Please help me, I'm panicking.

December 23, 2011

Thanks Patty! You and your family will be in my prayers too.

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!!!!

> > >

> >

>

December 23, 2011

exactly....that is why i am so angry all the time....I have met too many docters with no compassion....

with great power comes great responsibilty...and if they were not ready for that responsibilty they should never have become a docter.

sadly....docters make a lot of money and that seems to be the prime motivation..for many of them to go to med school...

it is the same as meeting a priest or rabbi who doesnt believe in God. i have met a lot of those too!!!!!!

i worked in strip clubs for a long time...worked in some really raunchy biker bars up in cananda in the 90s

i thought when I got out of that toxic scene I would get away from all the evil in the world...but it turns out you got the same stuff everywhere....we are taught to believe in justice. that people we look up to are deserving of our trust...docters ..teachers...police...but it is not always so.

That is why i think these groups are so important...becuase they teach people to think for themselves...question...everyone....

I am sure you are one of the 2 percenters alexis..........to bad there are not more who think like you....

To: mb12valtrex Sent: Friday, December 23, 2011 1:46 AMSubject: Re: Please help me, I'm panicking.

, 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!!!!>

December 25, 2011

There is no proof that this genetic conditions are causatives and not just

common co-morbidities. Children with fragile X have recovered. Genes change.

The genetic abnormalities may be caused by the same infections causing all other

disease. It does not mean the symptoms that these infections cause cannot be

reversed with the return to health.

>

> 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 AM

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

>

> Â

> I agree with you Channa.Â 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.Â 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.Â 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 sheÂ 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

> >

> >Â

> >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?

> >Â 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!

> >Â 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??

> >Â what about the missing gene in these docters souls....shame on them! who

the hell are they? what do they know?

> >aarrr!Â 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....

> >Â

> >

> >________________________________

> >

> >To: mb12valtrex

> >Sent: Thursday, December 22, 2011 4:20 PM

> >Subject: Please help me, I'm panicking.

> >

> >Â

> >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