Please help me, I'm panicking.

[Guest guest]

We took my ds to see a neurologist for the first time yesterday. He's six. We

took him as part of an autism clinic where he's seen multiple specialists

(genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor

informs us that recent results from a genetics appointment we had about six

weeks ago had come in, and she needed to call the geneticist to understand it

better. When she comes back in the room she says my ds has a deletion on the

5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out

huge words I couldn't understand, but some I picked out were malignant,

mitochondrial, and metobolic. I plainly asked her if this is a scary thing we

need to worry about and she just said we'd have to talk with the geneticist, and

that he wants her to take more blood to do another genetics test to further

investigate. I asked for a copy of the report, which I of course read right

away. The first line says there is a " loss " on the 5q11.2 chromosome, but the

break point has not been identified. The description goes on to talk about

hearing loss, vision loss, and " lethality within the first decade of life " . I

freaked out of course and called to talk with the genetic counselor, since the

dr was out. He says that the test only shows that he has a deletion of one of

the chromosomes, not both. He gives me all these crazy analogies about each of

us having two pairs of each gene, blah, blah, blah. That mitochondria provide

energy to our cells and organs, and when one link in the chain isn't working

than the whole system can be negatively affected. When I asked him if my son was

going to die he just says there's nothing in this test that tells me that is

going to happen. That further investigation is necessary to determine how well

the other gene he has at that location is functioning. Everything I'm reading is

scaring the crap out of me and I can't understand any of it for sure. Has anyone

ever heard of this, dealt with this, etc. I realize this mutation could have

caused his asd, but is possible that will be the end of the damage done? Or, is

it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

[Guest guest]

,

Mu son is 16 years old and originally dx'd Autism spectrum, globally delayed. By the timehe was 5 yrs old we knew something more was wrong. Long story short, we learned he has a terminal dx usually in the in the first and sometimes second decade of life. What he has is lysosomal storage disease, he is bron appearing normal, and gradually declines as he is missing an emzyme that breaks down the garbage in his cells. Long story short, severity usally depends on several factors, the amount of active enzyme level, and where the break in the gene happens to be. 's level is low. he only has 1.5 percent active and needing a minimum of 12% to be normal. We were told he would be in a wheelchair by 8 or 10 yrs, have a feeding tube or even gone by 10 -12 yrs. He is now 16 yrs old, and actually getting closer to 17 yrs. He is still walking with guded supervision due to vision issues, he still eats by mouth, still laughs at things here and there. he has however lost all his speech and has seizure disorder which we control pretty well naturally, and has bone and joint issues as well. Mobility has been one of our main goals with him as once you lose mobility other things get worse from cicrulatory, to digestion and so on. We have stayed away from drugs and worked at trying to correct issues metabolically as they occur. The docs originally were not on board, but now they seem to test for whatever I ask to help me figure out new issues when they arise. The life is not easy, but my son is still alive and the prospected time frame for his life has passed. Everyday we get now is a blessing and that's what we do.. we go day to day and Thank God for every day we have.

There are many rare disease that still have no treatment or cure. Sanfilippo included. I know a freind with a P- something gene issue the same way, her daughter was not expected to live beyond 3 yrs. She is 17 yrs, disabled, but happy and loved. So take these things with a grain of salt. The docotrs don't know everything, only what the books tell them. ((HUGS)) and prayers that you will have many years with your son. This group will help you alot and there are other out there as well that can help in the metabolism field. Feel free to email me if you want to talk

Patty T - Mom to

http://www.caringbridge.org/md/myjesse

wordinedge@...

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss" on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure. Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

[Guest guest]

Patty, I was hoping with all my heart that someone had experience to share with . Thanks for the wonderful post! We should count our blessings each and every day. Love and hugs to you and , and extra hugs for your son for being so amazing! -Tammy From: "Wordinedge@..."

To: mb12valtrex Sent: Thursday, December 22, 2011 5:41 PM Subject: Re: Please help me, I'm panicking.

,

Mu son is 16 years old and originally dx'd Autism spectrum, globally delayed. By the timehe was 5 yrs old we knew something more was wrong. Long story short, we learned he has a terminal dx usually in the in the first and sometimes second decade of life. What he has is lysosomal storage disease, he is bron appearing normal, and gradually declines as he is missing an emzyme that breaks down the garbage in his cells. Long story short, severity usally depends on several factors, the amount of active enzyme level, and where the break in the gene happens to be. 's level is low. he only has 1.5 percent active and needing a minimum of 12% to be normal. We were told he would be in a wheelchair by 8 or 10 yrs, have a feeding tube or even gone by 10 -12 yrs. He is now 16 yrs old, and actually getting closer to 17 yrs. He is still walking with guded supervision due to vision issues, he still eats by mouth, still laughs at things here and

there. he has however lost all his speech and has seizure disorder which we control pretty well naturally, and has bone and joint issues as well. Mobility has been one of our main goals with him as once you lose mobility other things get worse from cicrulatory, to digestion and so on. We have stayed away from drugs and worked at trying to correct issues metabolically as they occur. The docs originally were not on board, but now they seem to test for whatever I ask to help me figure out new issues when they arise. The life is not easy, but my son is still alive and the prospected time frame for his life has passed. Everyday we get now is a blessing and that's what we do.. we go day to day and Thank God for every day we have.

There are many rare disease that still have no treatment or cure. Sanfilippo included. I know a freind with a P- something gene issue the same way, her daughter was not expected to live beyond 3 yrs. She is 17 yrs, disabled, but happy and loved. So take these things with a grain of salt. The docotrs don't know everything, only what the books tell them. ((HUGS)) and prayers that you will have many years with your son. This group will help you alot and there are other out there as well that can help in the metabolism field. Feel free to email me if you want to talk

Patty T - Mom to

http://www.caringbridge.org/md/myjesse

wordinedge@...

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

[Guest guest]

Like Tammy I was really hoping someone would reply to you soon who was perhaps in a similar situation who could encourage you , b/c I felt your fear reading your email and I just started praying for you and your son. And wow, Patty, your story is such an encouragement to all of us here. It brought tears to my eyes. My 7 year-old ds also has asd, and your story reminds me to continue to be grateful for every second I have with him, and not take anything for granted. Thank you so much for sharing...Soraya

Patty, I was hoping with all my heart that someone had experience to share with . Thanks for the wonderful post! We should count our blessings each and every day. Love and hugs to you and , and extra hugs for your son for being so amazing! -Tammy From: "Wordinedge@..."

To: mb12valtrex Sent: Thursday, December 22, 2011 5:41 PM Subject: Re: Please help me, I'm panicking.

,

Mu son is 16 years old and originally dx'd Autism spectrum, globally delayed. By the timehe was 5 yrs old we knew something more was wrong. Long story short, we learned he has a terminal dx usually in the in the first and sometimes second decade of life. What he has is lysosomal storage disease, he is bron appearing normal, and gradually declines as he is missing an emzyme that breaks down the garbage in his cells. Long story short, severity usally depends on several factors, the amount of active enzyme level, and where the break in the gene happens to be. 's level is low. he only has 1.5 percent active and needing a minimum of 12% to be normal. We were told he would be in a wheelchair by 8 or 10 yrs, have a feeding tube or even gone by 10 -12 yrs. He is now 16 yrs old, and actually getting closer to 17 yrs. He is still walking with guded supervision due to vision issues, he still eats by mouth, still laughs at things here and

there. he has however lost all his speech and has seizure disorder which we control pretty well naturally, and has bone and joint issues as well. Mobility has been one of our main goals with him as once you lose mobility other things get worse from cicrulatory, to digestion and so on. We have stayed away from drugs and worked at trying to correct issues metabolically as they occur. The docs originally were not on board, but now they seem to test for whatever I ask to help me figure out new issues when they arise. The life is not easy, but my son is still alive and the prospected time frame for his life has passed. Everyday we get now is a blessing and that's what we do.. we go day to day and Thank God for every day we have.

There are many rare disease that still have no treatment or cure. Sanfilippo included. I know a freind with a P- something gene issue the same way, her daughter was not expected to live beyond 3 yrs. She is 17 yrs, disabled, but happy and loved. So take these things with a grain of salt. The docotrs don't know everything, only what the books tell them. ((HUGS)) and prayers that you will have many years with your son. This group will help you alot and there are other out there as well that can help in the metabolism field. Feel free to email me if you want to talk

Patty T - Mom to

http://www.caringbridge.org/md/myjesse

wordinedge@...

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

[Guest guest]

Tammy, I truly know the feeling she is going thru right now if her son has a dx that has no cure. It is devasting when you get that news. My heart sank. I think I cried everyday for 3 months, then decided I need to get on with life and do what I could to make my son the best I could with whatever days we had. The days got easier initally and right up to puberty when he started having seizures, even after learnign abuot seizures and dealign with them, they were still pretty good over all. Then the downward spiral started 3 yrs ago and realtiy started sinking in. I was able to deal with the delays in learning, potty training, behaviors, and all the things that come with cognitive issues, even the regression when it started, but as time goes on and more regression happens, the reality is too close. My thought now is quality for sure over quanity. We have reached a point where if he gets one major illness and he could be gone, or anesthesia or something could go wrong easily if we need to do it for some reason. (I avoid it if possible) . I truly have to thank God for everyday now. I cry a little more often these days now than I have over the past 10 years I think. I could have him for10 more years or just 10 more days.. we're at that point health wise, even though he is healthy per say, the storage is building up and make it harder for him. It breaks my heart that he has to go thru this.

I am more than happy to share and talk about these things with her and anyone else. Unfortunately it is a reality, but we really need to enjoy the now... after all none of us are really guaranteed tomorrow, we just never know. Thank you!!

xoxoxoxo

Patty

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss" on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure. Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

[Guest guest]

I have so many things to say to that I dont even know where to begin...ok first of all...let me say that my personal belief is nothing is written in stone...what does that mean part of a chromosone missing....i mean i know what that means...but what does that really mean?

i think if we all got tested we could find some cromosone missing in all of us....docters just love to look smart point their finger at how wise they are with this gene and that gene....do you know your body is capable of healing everything including our genes?

why cant we change our chromosones? says who? people are being recovered from AIDS people come back from the dead and many more.incurable things....the only limits we have are those we place on ourselves...if your child knows you believe in this stupid label he will follow you because he loves you and will obey what you believe about him!

instead pray over your son...ask God to place miracles over him!

these stupid diagnoses that docters give....how wrong have they been thruout time??

what about the missing gene in these docters souls....shame on them! who the hell are they? what do they know?

aarrr! I promised i would do no more docter bashing...but oh if I could just hit a couple of them and get away with it....sigh..

anyways im regressing...but this is my message to you....believe in God...the healer of all things....believe in miracles....

To: mb12valtrex Sent: Thursday, December 22, 2011 4:20 PMSubject: Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby. Please help me!!!!

[Guest guest]

I think about this a lot also Patty....that none of us have very long if you think about it? even a full lifetime goes pretty quick in the sceme of things...

I always joke that i will have my bags packed looking at my watch when it is my time to go...i mean whew!

but all our time is short...our spirits are eternal...and our body is just a temporary vessel....

sometimes in my darkest hours i think i will end up in an institution sometimes my ptsd is so bad...i......i fear i cant handle the demons anymore

it is then I swear I get a glimpse by God of what heaven could be....a place where we are all healed and the pain in our bodys...or minds no matter how bad are healed...and in its place we all have peace and joy..i hold on to that thought in my worst days....

channa

To: mb12valtrex Sent: Thursday, December 22, 2011 8:49 PMSubject: Re: Please help me, I'm panicking.

Tammy, I truly know the feeling she is going thru right now if her son has a dx that has no cure. It is devasting when you get that news. My heart sank. I think I cried everyday for 3 months, then decided I need to get on with life and do what I could to make my son the best I could with whatever days we had. The days got easier initally and right up to puberty when he started having seizures, even after learnign abuot seizures and dealign with them, they were still pretty good over all. Then the downward spiral started 3 yrs ago and realtiy started sinking in. I was able to deal with the delays in learning, potty training, behaviors, and all the things that come with cognitive issues, even the regression when it started, but as time goes on and more regression happens, the reality is too close. My thought now is quality for sure over quanity. We have reached a point where if

he gets one major illness and he could be gone, or anesthesia or something could go wrong easily if we need to do it for some reason. (I avoid it if possible) . I truly have to thank God for everyday now. I cry a little more often these days now than I have over the past 10 years I think. I could have him for10 more years or just 10 more days.. we're at that point health wise, even though he is healthy per say, the storage is building up and make it harder for him. It breaks my heart that he has to go thru this.

I am more than happy to share and talk about these things with her and anyone else. Unfortunately it is a reality, but we really need to enjoy the now... after all none of us are really guaranteed tomorrow, we just never know. Thank you!!

xoxoxoxo

Patty

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby. Please help me!!!!

[Guest guest]

Channa, I look forward to the day when I see my son whole in heaven, no more disability or disease. The whole happy person that he is inside. I can see it in his spirit shining through even now. God give me glimpses of these things too. He always does it just when he knows I need it. He carries me through those tough days.

God Bless you... and if we never meet here on earth, I will remember you when we get to heaven one day!!

xoxoxo

Patty

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss" on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure. Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

[Guest guest]

oh....Patty!!!!!!!!!! what a wonderful thought....I know I have told you this before, but you are one of Gods angels....the love you have for your son....and the fight you have fought...you are a warrior and would love to be lucky enuff to meet you in heaven one day:)

i will be at the open bar...

To: mb12valtrex Sent: Thursday, December 22, 2011 9:30 PMSubject: Re: Please help me, I'm panicking.

Channa, I look forward to the day when I see my son whole in heaven, no more disability or disease. The whole happy person that he is inside. I can see it in his spirit shining through even now. God give me glimpses of these things too. He always does it just when he knows I need it. He carries me through those tough days.

God Bless you... and if we never meet here on earth, I will remember you when we get to heaven one day!!

xoxoxo

Patty

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby. Please help me!!!!

[Guest guest]

Who is our listee that signs her posts "We are not human beings having a spiritual experience. We are spiritual beings having a human experience" ? With all my heart and soul I believe that. And I can not imagine the rich rewards that await those who traveled the most difficult roads...and the special angels beside them that held their hand the whole while. I pray you are filled with peace and joy in the mean time. Your family is very, very special. xoxTammy To: mb12valtrex Sent: Thursday, December 22, 2011 8:49 PM Subject: Re: Please help me, I'm panicking.

Tammy, I truly know the feeling she is going thru right now if her son has a dx that has no cure. It is devasting when you get that news. My heart sank. I think I cried everyday for 3 months, then decided I need to get on with life and do what I could to make my son the best I could with whatever days we had. The days got easier initally and right up to puberty when he started having seizures, even after learnign abuot seizures and dealign with them, they were still pretty good over all. Then the downward spiral started 3 yrs ago and realtiy started sinking in. I was able to deal with the delays in learning, potty training, behaviors, and all the things that come with cognitive issues, even the regression when it started, but as time goes on and more regression happens, the reality is too close. My thought now is quality for

sure over quanity. We have reached a point where if he gets one major illness and he could be gone, or anesthesia or something could go wrong easily if we need to do it for some reason. (I avoid it if possible) . I truly have to thank God for everyday now. I cry a little more often these days now than I have over the past 10 years I think. I could have him for10 more years or just 10 more days.. we're at that point health wise, even though he is healthy per say, the storage is building up and make it harder for him. It breaks my heart that he has to go thru this.

I am more than happy to share and talk about these things with her and anyone else. Unfortunately it is a reality, but we really need to enjoy the now... after all none of us are really guaranteed tomorrow, we just never know. Thank you!!

xoxoxoxo

Patty

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

[Guest guest]

Amen...

To: "mb12valtrex " <mb12valtrex > Sent: Thursday, December 22, 2011 10:38 PMSubject: Re: Please help me, I'm panicking.

Who is our listee that signs her posts "We are not human beings having a spiritual experience. We are spiritual beings having a human experience" ? With all my heart and soul I believe that. And I can not imagine the rich rewards that await those who traveled the most difficult roads...and the special angels beside them that held their hand the whole while. I pray you are filled with peace and joy in the mean time. Your family is very, very special.

xox

Tammy

To: mb12valtrex Sent: Thursday, December 22, 2011 8:49 PMSubject: Re: Please help me, I'm panicking.

Tammy, I truly know the feeling she is going thru right now if her son has a dx that has no cure. It is devasting when you get that news. My heart sank. I think I cried everyday for 3 months, then decided I need to get on with life and do what I could to make my son the best I could with whatever days we had. The days got easier initally and right up to puberty when he started having seizures, even after learnign abuot seizures and dealign with them, they were still pretty good over all. Then the downward spiral started 3 yrs ago and realtiy started sinking in. I was able to deal with the delays in learning, potty training, behaviors, and all the things that come with cognitive issues, even the regression when it started, but as time goes on and more regression happens, the reality is too close. My thought now is quality for sure over quanity. We have reached a point where if

he gets one major illness and he could be gone, or anesthesia or something could go wrong easily if we need to do it for some reason. (I avoid it if possible) . I truly have to thank God for everyday now. I cry a little more often these days now than I have over the past 10 years I think. I could have him for10 more years or just 10 more days.. we're at that point health wise, even though he is healthy per say, the storage is building up and make it harder for him. It breaks my heart that he has to go thru this.

I am more than happy to share and talk about these things with her and anyone else. Unfortunately it is a reality, but we really need to enjoy the now... after all none of us are really guaranteed tomorrow, we just never know. Thank you!!

xoxoxoxo

Patty

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby. Please help me!!!!

[Guest guest]

I pray that the mitochondrial disorder is minor and that it is treatable long term.I found this http://omim.org/entry/252010and if I understand it correctly, may be helped with NADH and CoQ10 supplementation??

God bless.

 

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a " loss " on the 5q11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and " lethality within the first decade of life " . I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure. Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

-- --------------------------------------------------------------------------------------------Click to find info about Vitamins and Minerals:http://www.facebook.com/note.php?note_id=10150543521682565

--------------------------------------------------------------------------------------------Click to find links to info about the Low Oxalate Diet :http://www.facebook.com/note.php?note_id=10150543495292565

------Toni------Mind like a steel trap...Rusty and illegal in 37 states.

[Guest guest]

, when I read your post and then Patty's post, I could not stop crying. Not

because I know what exactly is going on with your kid but because I could relate

to the fear and pain you are going through. Then I got some strength and did

some reading on the matter. First of all your child is 6 years old and if he had

a major chromosomal deletion and severe mitochondrial disease, he would show

signs of cardiorespiratory failure and would not have survived this long. So

hopefully, it is not that variety. He may have a partial deletion which is

manifesting itself as developmental delay in different areas that is qualifying

him on spectrum. Most of the kids on spectrum have mito dysfunction and they

respond to supplements like carnitine for instance which helps the mitochondria.

How many of these kids get tested for this gene deletion? Who knows how many of

the kids who are showing improvement with supplements actually have the same

deletion. What makes me angry is that when our kids get diagnosed,

pediatricians, neurologists and developmental specialists don't even do any

workup. When I took my son to a neurologist, she told me that there was no need

to do any workup. When I told her that I was planning to take some time off to

better understand and help my son, she told me that all my son needed was

special ed school. She said that my son has a diagnosis and I should accept it

and concentrate on my career.I usually don't hate people easily but I really

hated that woman. These selfish specialists have no idea how precious our little

angels are. If all the kids need genetic analysis, why aren't we told? Why all

these heartless pediatricians don't screen for mild symptoms of autism in

children who show language delay. And then they all say that they chose

pediatrics as they loved kids. I am an internist and I try to do justice to my

patients by always reminding myself that I have to treat all my patients the way

I would want my family members to be treated if they were sick. Aren't

pediatricians supposed to practice preventive medicine where any aspect of

child's growth is concerned.

Sorry for getting distracted as after reading what you are going through

reminded me all the bad memories. Just wanted to reassure you that a lot of our

kids on spectrum have mitochondrial disease, may be this chromosomal deletion is

common too. If you have another appointment with the doctor, ask him to explain

everything in detail and if he says something that you don't understand, make

him explain. I don't know if this will help or not but just know that you and

your kid will be in my prayers.

is

yahoogroups.com, " " wrote:

>

> We took my ds to see a neurologist for the first time yesterday. He's six. We

took him as part of an autism clinic where he's seen multiple specialists

(genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor

informs us that recent results from a genetics appointment we had about six

weeks ago had come in, and she needed to call the geneticist to understand it

better. When she comes back in the room she says my ds has a deletion on the

5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out

huge words I couldn't understand, but some I picked out were malignant,

mitochondrial, and metobolic. I plainly asked her if this is a scary thing we

need to worry about and she just said we'd have to talk with the geneticist, and

that he wants her to take more blood to do another genetics test to further

investigate. I asked for a copy of the report, which I of course read right

away. The first line says there is a " loss " on the 5q11.2 chromosome, but the

break point has not been identified. The description goes on to talk about

hearing loss, vision loss, and " lethality within the first decade of life " . I

freaked out of course and called to talk with the genetic counselor, since the

dr was out. He says that the test only shows that he has a deletion of one of

the chromosomes, not both. He gives me all these crazy analogies about each of

us having two pairs of each gene, blah, blah, blah. That mitochondria provide

energy to our cells and organs, and when one link in the chain isn't working

than the whole system can be negatively affected. When I asked him if my son was

going to die he just says there's nothing in this test that tells me that is

going to happen. That further investigation is necessary to determine how well

the other gene he has at that location is functioning. Everything I'm reading is

scaring the crap out of me and I can't understand any of it for sure. Has anyone

ever heard of this, dealt with this, etc. I realize this mutation could have

caused his asd, but is possible that will be the end of the damage done? Or, is

it inevitable that something terrible is going to happen to my baby.

>

> Please help me!!!!

>

[Guest guest]

I second that AMEN!!!

Patty

Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss" on the 5q 11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure. Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

Please help me!!!!

[Guest guest]

Its scary to hear that an ASD kid can develop normal with some delays till puberty and then regress to a point of physical disability. I was about to ask whether all ASD kids have chromosomal mutations/deletions. I got the answer from this post. Many just dont test for genetics so there is no way to know if they have a chromosomal issue. But after I thought about this, I conclude to myself--- what can I do after a chromosomal diagnosis. We would intervene for any ASD kids going by their symptoms. A diagnosis is good only if it could help with a cure or improvement. Else why do we need a diagnosis. What are we going to do knowing that a chromosome is deleted or mutated.

I hope God gives strength to Patty to carry on,, many in her shoes would have just given up,, but to hear she has carried for so long and doing the best for her son is very inspirational and out of this world.

, a diagnosis is a very scary thing , for us its our child and for the doctors its just one of their patients-- mostly no empathy from them-- most would only be proud to present a diagnosis. I do not know if my son has this issue just because we have not tested, or many children may be having the deletion or mutation issues and no one can tell for certain that maybe "all" ASD kids do not chromosomal issues. So stay in the present and if your son is improving through supplements then keep going with it. As other members have said, there are mito supplements. Hypotonia is a common problem with these kids. I pray god gives you the needed guidance and strength to deal with this.

is, are you a doctor , because this makes me think so " I try to do justice to my patients by always reminding myself ..."

>

[Guest guest]

The key for me discovering that had more than ASD was when he started losing skills that he learened well and accomplished already. I knew this was not normal that something more was wrong. He was one smart little man at one time, knowing his colors, counting without missing a number thru 25. Followin directions failry well most days. He was basically a fairly normal child with a mild hearing and speech delay, he also had a lot of echoalic tendencies too. He knew directions and his way to places better than some adults I know, LOL!!! It wasn't till I saw a a full 2 page spread in the newspaper about a young giril with a rare disease call alpha-manosidosis that I was able to ask doctors to test. All he symptoms during her childhood and even her facial features were so much like . (Alpha manosidosis is a related disease in MPS and ML Storage disease family) I contacted the family and they lead me to the doctor that diagnosed their child. Within 3 months we had a dx. I can say that the diagnosis has helped me to stop beating my head against the wall on many issues. I can understand the full scope of the why's and how come he does things, (or doesn't do things) After many years of research and trial and error now, I can also understand his metabolic system more with the diagnosis. So even though I may not like the diagnosis, it has given me ground to be smarter about my approaches to treating and caring for him. Never do we give up, and we certainly enjoy when we have stablized periods of time. Now we are at crossorads in his conditions, because most kids at his level of severity have not lived this long and encountered the issues we are slowly encountering. So fixing or stabilizing some of the issues are becoming more of a challenge due to clogged up pathways. Happiness and comfort are my long term goals now and maintaining what we still have. (Though I will say I am always lookiong at new things for the brain dementia. There are so many similar issues in the Azheimers brain are in the Sanfilippo brain as well. So all these subtrate reduction therapies are of interest to us. So we move on to another new day and watch every study trial that comes about around the world, and being a Board Member of Team Sanfilippo, we fund research on many things that the common population is not, so we can see if soem of these natural things will help our kids. I feel like we don't need a drug to fix our kids, but God has placed so many plants and herbs on this earth with healing properties, that the right combination of things should be able to much for our kids, if not heal them too!!! Never give up Hope!! There is always A Light just around the bend to overshadow the present darkness if you allow it.

xoxoxo

Patty T - mom to

http://www.caringbridge.org/md/myjesse

Re: Re: Please help me, I'm panicking.

Its scary to hear that an ASD kid can develop normal with some delays till puberty and then regress to a point of physical disability. I was about to ask whether all ASD kids have chromosomal mutations/deletions. I got the answer from this post. Many just dont test for genetics so there is no way to know if they have a chromosomal issue. But after I thought about this, I conclude to myself--- what can I do after a chromosomal diagnosis. We would intervene for any ASD kids going by their symptoms. A diagnosis is good only if it could help with a cure or improvement. Else why do we need a diagnosis. What are we going to do knowing that a chromosome is deleted or mutated.

I hope God gives strength to Patty to carry on,, many in her shoes would have just given up,, but to hear she has carried for so long and doing the best for her son is very inspirational and out of this world.

, a diagnosis is a very scary thing , for us its our child and for the doctors its just one of their patients-- mostly no empathy from them-- most would only be proud to present a diagnosis. I do not know if my son has this issue just because we have not tested, or many children may be having the deletion or mutation issues and no one can tell for certain that maybe "all" ASD kids do not chromosomal issues. So stay in the present and if your son is improving through supplements then keep going with it. As other members have said, there are mito supplements. Hypotonia is a common problem with these kids. I pray god gives you the needed guidance and strength to deal with this.

is, are you a doctor , because this makes me think so " I try to do justice to my patients by always reminding myself ..."

>

[Guest guest]

is, you rock!

And , I haven't answered your post because I have nothing helpful to offer,

but know that I will pray for you and your son. I can only imagine the fear you

are experiencing.

Blessings,

Cathy

> >

[Guest guest]

Patty, what features did your son have that made you think it was more than asd?

We had this testing done on ds as a routine procedure done as part of an autism

clinic. DS has always been a " gut " kid, with various gastrointestinal issues

that come and go. We couldn't afford our DAN anymore, so decided to try the

traditional medicine route. The geneticist is listed on the DAN website, so we

started with him. He never seemed concerned about DS having anything serious. DS

has a huge head, and a pretty severe speach delay. He's very sensory seeking.

But, he's amazinging intelligent, probably hyperlexic. He was writing words

before he ever said anything. He's now fairly verbal in that he can request

anything with 2-4 word combinations.If he sees a word once he knows it forever

and can identify hundreds of sight words. He just doesn't read sentences all

strung together yet. He doesn't have any respitory, or heart conditions. Any

medical conditions at all really, besides the gut and skin issues. He's had two

CAT scans since he was little because of the size of his head, which were both

normal. He also has something called Ehler Danlos syndrom which runs in my dh's

family. This is a connective tissue disorder where hyperlasticity, double

jointedness, and fragile skin are common. He's only ever regressed when he was a

year old, he stopped waiving after getting his vaccines. We haven't vax'd him

since. He's condinued to make progress in all other areas, just at a slower pace

than a typical child. I guess my only worry right now is that his behavior

lately has gotten more aggressive and irritable. Then again, we just had a new

baby and he started full day kindy this year. Some major changes that I assumed

were causing the behaviors.

The report we recently receiveed says that he has a minimum. .018 or maximum

..055 gap in the 5q11.2 chromosome, but only on one. I don't know enough to know

if these measurements signify anything. Further testing is needed to see if the

other gene is affected as well. When I talked to the genetic counselor he said

that since ds's other test results. (urinalysis, lactic acid, etc.) are all

within normal range, there is no reason at this point not to believe the other

gene is functioning " at some capacity " . He's says lots of people do fine with

just one functioning gene in a pair. What I can't seem to find out is A. What if

it's also mutated in some way, or what if it's not? If it is also damaged does

that mean some terrible degenerative condition in in our future? What if it's

not damaged, is ds's asd the end of the damage that can or may be done?

In my searching I've seen some mention that certain types of ehler danlos can

also be identified on that same gene (5q11 anyway). Is it possible this mutation

is only there because of that condition?

Ugh, I hate this. In someways I wish I hadn't sought out this damn testing. Is

it better to be oblivious to something terrible coming, or waiting and wondering

if it may happen and when?

Patty, thanks for your story. Although I'm praying like never before that my son

will not go down a similar path, I'm very grateful for any information you can

give me.

>

> >

>

[Guest guest]

I agree with you Channa. When my son was 10 months old we were told by specialists that he will be blind, deaf, and who knows what else because when I was hearing all that I close my ears, denied all that they were saying and pray and ask God for his healing power and for guidance to help my son while I wait to his appointed day of full recovery. My son is ten years old now. He sees and hears normally. He is improving very slowly, but improving. He is happy and fills my days with love, kisses and hugs. We all feel that horrible pain you are going through, in one way or another we all have felt it. I do have bad days of not knowing what to do, I cry and pray and somehow God gives me peace and strength to keep going. Don't give up hope and know that God is in control and nothing is impossible for him. I also believe He made our bodies capable of

healing.In this group there was a you tube of a neurologist that said that doctors forget to mention that genes can be turn on and off. Who can say that chromosomes can do the same?I know the case of a down syndrome girl in Spain. The mother never gave up and help her daughter. The girl is a woman now, she is a teacher and a ballerina, and her features has change that you could not see that she had down syndrome as a child. Like Channa said there is nothing write in stone or for me in iron.Love and prayers for all our children and parentsSubject: Re: Please help me, I'm panicking.To: "mb12valtrex " <mb12valtrex >Date: Friday, December 23, 2011, 1:52 AM

I have so many things to say to that I dont even know where to begin...ok first of all...let me say that my personal belief is nothing is written in stone...what does that mean part of a chromosone missing....i mean i know what that means...but what does that really mean?

i think if we all got tested we could find some cromosone missing in all of us....docters just love to look smart point their finger at how wise they are with this gene and that gene....do you know your body is capable of healing everything including our genes?

why cant we change our chromosones? says who? people are being recovered from AIDS people come back from the dead and many more.incurable things....the only limits we have are those we place on ourselves...if your child knows you believe in this stupid label he will follow you because he loves you and will obey what you believe about him!

instead pray over your son...ask God to place miracles over him!

these stupid diagnoses that docters give....how wrong have they been thruout time??

what about the missing gene in these docters souls....shame on them! who the hell are they? what do they know?

aarrr! I promised i would do no more docter bashing...but oh if I could just hit a couple of them and get away with it....sigh..

anyways im regressing...but this is my message to you....believe in God...the healer of all things....believe in miracles....

To: mb12valtrex Sent: Thursday, December 22, 2011 4:20 PMSubject: Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby. Please help me!!!!

[Guest guest]

,

has had a large head since birth, he wore a toddler cap out of the hospital, not an infant cap. We always said hehad lots of brains up there, LOL! We did ultrasound and CT's as well and even MRI's at one point and nothing ever showed up. (not until he was 10 yrs oldm then a wee bit of white matter is hwoing up in the lower rear cortex of the cerebrum of his brain. This is when most of language really started leaving us. Also an area in the upper left middel region was showing up as well. was delayed in potty training, he too did not string many sentences, but lots of two to 5 word phrases.

He talked alot. For him fine motor skills were more of an issue, but his gross motor was excellent. He could sight memorize words as well, and sing anything he ever heard one time... word for word. he was amazing that way. he learned best to rythm and music. His liver and spleen were slightly enlarged which is very common in MPS diseases (the classification that Sanfilippo falls into, there are many Lysosomal storage disease out there) Until I started vitamins, had severe sensory issues. It was like they were reversed. Anything pain related he would laugh at and things like a nice bath in warm water he would scream bloody murder. I dreaded bath time, I was always thinking that the neighbors would calling the police thinking I was abusing my son. HA,,,Never happened thank God. If he'd fall and skin his knee he'd laugh not cry, same with discipline he would laugh hiliariously. The B- Vitamins (we did a 50mg comples back then) , extra 400 mcgs Folinic Acid and a full spectrum Whey protein for amino acids seemed to change all the sensory issues. We tried brushing and everythingelse known to change it for several years, not until adding supplements did it change. Now his sensory reactions are right on!!! We did not have repsiratory issue, though saw enlarged tonsil and adenoids thaty were unusually large for a 2 yr old., that we removed. This would of been our first sign if we'd known about storage diseases. But we didn't know then. From then he did very well, about 6 yrs old we started seeing him lose some of his language responses. Just a little bit, at forst I thought maybe hearing was getting worse and he needed to be fitted with new hearing aides. But tests showed his hearing was still the same, no more regression there. So then we thought maybe he just doign selective hearing and ignoring us. Not so either. That was the start of steady decrease in language over the next several years. He was 6 yrs old when I got him diagnosed. He has since lost his potty training, though he is aware of when he goes and wants ot be changed. He has lost all speech other than a laughter and smiles. and once a while he tries to talk and says "No" or "Ma", One of th eolder boys in Switzerland who is less effected said to his mom that it hurts to talk. :-( We assume storage material is building up on the vocal chords or somewhere. It's not worth the risk of anesthesia to scope these kids as airways become fragile as they age. He had a leaky aortic valve, but we have improved that to nearly perfect again. Unheard of in MPS diseases. I contirbute it to Nattokinase and Benfotiamine. He gets a ost other heart healthy supplements, but it never improved over 5 years until adding these things. Natto for healthy blood flow and circulation and benfotiamine (Lipid soluable B-1) for neuropathy-(for us mostly nerve pain from lumbar formainal stenosis on his left side)

Theres so much more I can tell you, but ihave to head to work now, I have to be there at 10am. I'll be home after 5pm. eastern time. I'll try to get back again this evening. Here's great tutorial of the brain too. You might enjoy this, it easy to understand. http://www.alz.org/braintour/3_main_parts.asp

Hugs to you and your son!! xoxoxox Enjoy your holiday and try not to stress on the unknown and enjoy today!!!

Patty

Re: Please help me, I'm panicking.

Patty, what features did your son have that made you think it was more than asd? We had this testing done on ds as a routine procedure done as part of an autism clinic. DS has always been a "gut" kid, with various gastrointestinal issues that come and go. We couldn't afford our DAN anymore, so decided to try the traditional medicine route. The geneticist is listed on the DAN website, so we started with him. He never seemed concerned about DS having anything serious. DS has a huge head, and a pretty severe speach delay. He's very sensory seeking. But, he's amazinging intelligent, probably hyperlexic. He was writing words before he ever said anything. He's now fairly verbal in that he can request anything with 2-4 word combinations.If he sees a word once he knows it forever and can identify hundreds of sight words. He just doesn't read sentences all strung together yet. He doesn't have any respitory, or heart conditions. Any medical conditions at all really, besides the gut and skin issues. He's had two CAT scans since he was little because of the size of his head, which were both normal. He also has something called Ehler Danlos syndrom which runs in my dh's family. This is a connective tissue disorder where hyperlasticity, double jointedness, and fragile skin are common. He's only ever regressed when he was a year old, he stopped waiving after getting his vaccines. We haven't vax'd him since. He's condinued to make progress in all other areas, just at a slower pace than a typical child. I guess my only worry right now is that his behavior lately has gotten more aggressive and irritable. Then again, we just had a new baby and he started full day kindy this year. Some major changes that I assumed were causing the behaviors.

The report we recently receiveed says that he has a minimum. .018 or maximum .055 gap in the 5q11.2 chromosome, but only on one. I don't know enough to know if these measurements signify anything. Further testing is needed to see if the other gene is affected as well. When I talked to the genetic counselor he said that since ds's other test results. (urinalysis, lactic acid, etc.) are all within normal range, there is no reason at this point not to believe the other gene is functioning "at some capacity". He's says lots of people do fine with just one functioning gene in a pair. What I can't seem to find out is A. What if it's also mutated in some way, or what if it's not? If it is also damaged does that mean some terrible degenerative condition in in our future? What if it's not damaged, is ds's asd the end of the damage that can or may be done?

In my searching I've seen some mention that certain types of ehler danlos can also be identified on that same gene (5q11 anyway). Is it possible this mutation is only there because of that condition?

Ugh, I hate this. In someways I wish I hadn't sought out this damn testing. Is it better to be oblivious to something terrible coming, or waiting and wondering if it may happen and when?

Patty, thanks for your story. Although I'm praying like never before that my son will not go down a similar path, I'm very grateful for any information you can give me.

>

> >

>

[Guest guest]

In the movie, Lorenzo's Oil, the parents eventually do their own

research to figure out a way to stop a fatal genetic condition from

progressing. It has since saved many children from death. What I want

to say is that hope and faith can lead to a lot of success for at least

some. Life is complicated, so we will never be able to heal everyone,

but a great many can be healed or helped if they pursue it. I hate the

way the current medical establishment views genetic issues as somehow

untreatable. There is so much that can be done. If a gene doesn't

allow the body to make an enzyme, what about supplementing the enzyme or

giving something to make the body break the toxin down. There is a lot

more " where there is a will, there is a way " kinds of things that can be

done than what mainstream medical is touting. Therefore, search your

heart, and if you feel in your gut that there is hope; than search and

learn until you find what you are looking for. There is prayer,

homeopathy, Zytos, and all kinds of off-path healing options. We are

all here because our local docs told us that there was nothing

mainstream medical could do. I had some docs angerily tell me that I

would waste my time, and not to try these recovery methods. The docs

were wrong, and my children went from special needs schooling to regular

schooling. Seek out those with faith and success, for they obviously

have some answers. ly, myself, I would look into prayer first,

then Zyto and then homeopathy to learn more when the docs stop being

helpful. But, do use the docs as much as they are willing to do

testing, to pinpoint the exact chromosome issues, etc. The more you

know, the more you can understand how to help.

Love and prayers,

Heidi N

When she comes back in the room she says my ds has a deletion on the

5q11.2 chromosome related to the NCUFS4 gene.

[Guest guest]

, let me tell you what a " bad combination " is; having a beautiful child you

are crazy about and genetic testing. 2011 has been the hellish year of genetic

testing for my beautiful daughter, and sometimes I wish we had not done any of

it. She has mutations for two horrible diseases; Rett syndrome and Juvenile

Parkinson. Here, I need to apologize to all in the listserve who had to read

about my experiences over and over again. It took a whole year of nonstop

genetic testing to come to the conclusion that she will not get either of these

diseases, and that these mutations are what caused her autism. As parents, we

had to get tested numerous times, too. It turns out I have the Rett syndrome

mutation, too. I am glad my parents never knew about it. They had enough on

their plate with my brother who contracted meningitis at 2.5 months old and

could not walk or talk and was retarded after that. My Mom fed him and changed

his diapers until he passed away at 27 years old, when I was 17. A lot of people

have mutations they don't even know about. Scientists just discovered the gene

mutation for separation anxiety. Breast cancer is associated with a gene

mutation. J. Fox had the gene mutation for Juvenile Parkinson and didn't

even know it. I cannot even begin to tell you the hell I went through with

nonstop inconclusive genetic tests. I can't even begin to tell you about the

insensitivities of the doctors and some other people while I went through all

this. It feels to me like the field of genetics is still in its infancy. My

beautiful daughter, for some reason, has Asian eyes and a tiny flat nose and

white skin, while no one else in our families of Middle-Eastern (mine) and

Jewish (my husband's) origins do. I bet she has some syndrome that has not even

been discovered yet. Now just when I thought the genetic testing hell was over,

just a few days ago, I was looking up her " preoccupation with water " . Low and

behold, I read about a syndrome called Angelmans where kids have a preoccupation

with water and they are always very happy to the point that this syndrome is

nicknamed " happy puppet syndrome " . Just when my husband and I were thinking

" finally we have a happy kid " and everybody in the world is commenting on how

she is constantly happy and I even nicknamed her lovingly as " my nonverbal

nutcase " due to her happiness, it might all be due to this syndrome. Angelmans

syndrome is often mistaken for autism. Look up on the internet the interview

with Colin Farrel where for 7 years, he was told his son had cerebral palsy

until a doctor inquired about his son's constant happiness and preoccupation

with water. So, I contacted the geneticist a couple days ago and asked if they

tested for Angelmans syndrome. Of course, with the holidays, nobody is getting

back to me. I feel like I am putting myself back at the mercy of the noncaring

genetics department again, back to not knowing if she has a certain syndrome,

but I just need to know. One word of advice; don't stop the biomedical and

nutritional treatments. Our Dan doc said that even before all the genetic

testing, he could see from my daughter's lab results similar deficiencies to

Rett and Parkinson syndrome and he has been treating them with supplements. He

said he is not worried about genetic mutations, because there are ways to help

these kids. I have read comments from parents on the internet " My kid used to

have these mutations at a young age, but the recent testing revealed that he

doesn't anymore. I thought gene mutations were permanent. What's going on? " If

you do end up having to go through a ton of genetic tests like we did, prepare

for a courteous battle with your health insurance. As much as I hate them for

not covering any kind of autism treatment, I am thankful that they paid for all

these genetic tests.

>

> We took my ds to see a neurologist for the first time yesterday. He's six. We

took him as part of an autism clinic where he's seen multiple specialists

(genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor

informs us that recent results from a genetics appointment we had about six

weeks ago had come in, and she needed to call the geneticist to understand it

better. When she comes back in the room she says my ds has a deletion on the

5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out

huge words I couldn't understand, but some I picked out were malignant,

mitochondrial, and metobolic. I plainly asked her if this is a scary thing we

need to worry about and she just said we'd have to talk with the geneticist, and

that he wants her to take more blood to do another genetics test to further

investigate. I asked for a copy of the report, which I of course read right

away. The first line says there is a " loss " on the 5q11.2 chromosome, but the

break point has not been identified. The description goes on to talk about

hearing loss, vision loss, and " lethality within the first decade of life " . I

freaked out of course and called to talk with the genetic counselor, since the

dr was out. He says that the test only shows that he has a deletion of one of

the chromosomes, not both. He gives me all these crazy analogies about each of

us having two pairs of each gene, blah, blah, blah. That mitochondria provide

energy to our cells and organs, and when one link in the chain isn't working

than the whole system can be negatively affected. When I asked him if my son was

going to die he just says there's nothing in this test that tells me that is

going to happen. That further investigation is necessary to determine how well

the other gene he has at that location is functioning. Everything I'm reading is

scaring the crap out of me and I can't understand any of it for sure. Has anyone

ever heard of this, dealt with this, etc. I realize this mutation could have

caused his asd, but is possible that will be the end of the damage done? Or, is

it inevitable that something terrible is going to happen to my baby.

>

> Please help me!!!!

>

[Guest guest]

Mel, I think u have done an awesome job at expressing what I was trying to say

too. I still feel that 's kid will not have any crazy deletion but it is a

good idea to continue the workup so no other diagnosis is missed. I'm gonna make

an appointment for my son too as he has shown a lot of regression also. We all

will support each other with encouragement and hope. Anyways, this is the hope

for our kids that got us together on this forum. Patty! I wish I could get some

of the strength that you have. Oh! I don't know what I would do without my

buddies here. You all are like my new best friend(s).

is

> >

> > We took my ds to see a neurologist for the first time yesterday. He's six.

We took him as part of an autism clinic where he's seen multiple specialists

(genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor

informs us that recent results from a genetics appointment we had about six

weeks ago had come in, and she needed to call the geneticist to understand it

better. When she comes back in the room she says my ds has a deletion on the

5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out

huge words I couldn't understand, but some I picked out were malignant,

mitochondrial, and metobolic. I plainly asked her if this is a scary thing we

need to worry about and she just said we'd have to talk with the geneticist, and

that he wants her to take more blood to do another genetics test to further

investigate. I asked for a copy of the report, which I of course read right

away. The first line says there is a " loss " on the 5q11.2 chromosome, but the

break point has not been identified. The description goes on to talk about

hearing loss, vision loss, and " lethality within the first decade of life " . I

freaked out of course and called to talk with the genetic counselor, since the

dr was out. He says that the test only shows that he has a deletion of one of

the chromosomes, not both. He gives me all these crazy analogies about each of

us having two pairs of each gene, blah, blah, blah. That mitochondria provide

energy to our cells and organs, and when one link in the chain isn't working

than the whole system can be negatively affected. When I asked him if my son was

going to die he just says there's nothing in this test that tells me that is

going to happen. That further investigation is necessary to determine how well

the other gene he has at that location is functioning. Everything I'm reading is

scaring the crap out of me and I can't understand any of it for sure. Has anyone

ever heard of this, dealt with this, etc. I realize this mutation could have

caused his asd, but is possible that will be the end of the damage done? Or, is

it inevitable that something terrible is going to happen to my baby.

> >

> > Please help me!!!!

> >

>

[Guest guest]

is,

The forums are the best place for support, as no one else truly understands the life we really lead!!! God Bless and I will praying for you have strength and encouragement all around you!!

Patty

Re: Please help me, I'm panicking.

Mel, I think u have done an awesome job at expressing what I was trying to say too. I still feel that 's kid will not have any crazy deletion but it is a good idea to continue the workup so no other diagnosis is missed. I'm gonna make an appointment for my son too as he has shown a lot of regression also. We all will support each other with encouragement and hope. Anyways, this is the hope for our kids that got us together on this forum. Patty! I wish I could get some of the strength that you have. Oh! I don't know what I would do without my buddies here. You all are like my new best friend(s).

is

> >

> > We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss" on the 5 q11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure. Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby.

> >

> > Please help me!!!!

> >

>

[Guest guest]

very cool about the woman in spain who had down syndrome as a child...i knew in my heart it was possible..i just never heard a story like that

To: mb12valtrex Sent: Friday, December 23, 2011 9:08 AMSubject: Re: Please help me, I'm panicking.

I agree with you Channa. When my son was 10 months old we were told by specialists that he will be blind, deaf, and who knows what else because when I was hearing all that I close my ears, denied all that they were saying and pray and ask God for his healing power and for guidance to help my son while I wait to his appointed day of full recovery. My son is ten years old now. He sees and hears normally. He is improving very slowly, but improving. He is happy and fills my days with love, kisses and hugs. We all feel that horrible pain you are going through, in one way or another we all have felt it. I do have bad days of not knowing what to do, I cry and pray and somehow God gives me peace and strength to keep going. Don't give up hope and know that God is in control and nothing is impossible for him. I also believe He made our bodies capable of healing.In this group there was a you tube of a neurologist that said that

doctors forget to mention that genes can be turn on and off. Who can say that chromosomes can do the same?I know the case of a down syndrome girl in Spain. The mother never gave up and help her daughter. The girl is a woman now, she is a teacher and a ballerina, and her features has change that you could not see that she had down syndrome as a child. Like Channa said there is nothing write in stone or for me in iron.Love and prayers for all our children and parents

Subject: Re: Please help me, I'm panicking.To: "mb12valtrex " <mb12valtrex >Date: Friday, December 23, 2011, 1:52 AM

I have so many things to say to that I dont even know where to begin...ok first of all...let me say that my personal belief is nothing is written in stone...what does that mean part of a chromosone missing....i mean i know what that means...but what does that really mean?

i think if we all got tested we could find some cromosone missing in all of us....docters just love to look smart point their finger at how wise they are with this gene and that gene....do you know your body is capable of healing everything including our genes?

why cant we change our chromosones? says who? people are being recovered from AIDS people come back from the dead and many more.incurable things....the only limits we have are those we place on ourselves...if your child knows you believe in this stupid label he will follow you because he loves you and will obey what you believe about him!

instead pray over your son...ask God to place miracles over him!

these stupid diagnoses that docters give....how wrong have they been thruout time??

what about the missing gene in these docters souls....shame on them! who the hell are they? what do they know?

aarrr! I promised i would do no more docter bashing...but oh if I could just hit a couple of them and get away with it....sigh..

anyways im regressing...but this is my message to you....believe in God...the healer of all things....believe in miracles....

To: mb12valtrex Sent: Thursday, December 22, 2011 4:20 PMSubject: Please help me, I'm panicking.

We took my ds to see a neurologist for the first time yesterday. He's six. We took him as part of an autism clinic where he's seen multiple specialists (genetics, endocrinology, gastroenterolgy, and now nuerology). The doctor informs us that recent results from a genetics appointment we had about six weeks ago had come in, and she needed to call the geneticist to understand it better. When she comes back in the room she says my ds has a deletion on the 5q11.2 chromosome related to the NCUFS4 gene. She dawdles around throwing out huge words I couldn't understand, but some I picked out were malignant, mitochondrial, and metobolic. I plainly asked her if this is a scary thing we need to worry about and she just said we'd have to talk with the geneticist, and that he wants her to take more blood to do another genetics test to further investigate. I asked for a copy of the report, which I of course read right away. The first line says there is a "loss"

on the 5q11.2 chromosome, but the break point has not been identified. The description goes on to talk about hearing loss, vision loss, and "lethality within the first decade of life". I freaked out of course and called to talk with the genetic counselor, since the dr was out. He says that the test only shows that he has a deletion of one of the chromosomes, not both. He gives me all these crazy analogies about each of us having two pairs of each gene, blah, blah, blah. That mitochondria provide energy to our cells and organs, and when one link in the chain isn't working than the whole system can be negatively affected. When I asked him if my son was going to die he just says there's nothing in this test that tells me that is going to happen. That further investigation is necessary to determine how well the other gene he has at that location is functioning. Everything I'm reading is scaring the crap out of me and I can't understand any of it for sure.

Has anyone ever heard of this, dealt with this, etc. I realize this mutation could have caused his asd, but is possible that will be the end of the damage done? Or, is it inevitable that something terrible is going to happen to my baby. Please help me!!!!