Brand New Member - Confused

[Guest guest]

Hello everyone,

I hope it's ok that I'm here. I have a 4 year old son who, for the

past 2 years, has been having hospital appointment after hospital

appointment, test after test in an attempt to work out what's behind

his global developmental delay.

I'm not very good with medical stuff unfortunately, so please excuse

my bad attempt at trying to explain things.

As I said he has a global delay, he has low muscle tone, he didn't

walk until 20 months, he still doesn't have functional speech,

problems with fine and gross motor skills. He also has a lot of

autistic characteristics, a lot of obsessive behaviour, problems with

social interactions, behavioural difficulties etc.

In the past 18 months he has had 4 seizures, the first putting him in

intensive care and lasting 50 minutes. They have all been teamed with

either sickness or a high temperature, which can be common, but

because of the severity of the first he is on seizure medication.

He has had every test under the sun that you can think of, his

metabolic doctor has had a field day I think. Some of which weer very

invasive which I have found hard to cope with. He has had two

abnormal results come back from urine tests and just today we were

told that when doing dna tests on his muscle biopsy they've found a

defect in his mitochondrial DNA.

It's a relief to be getting some answers finally, but it's still

quite scary. I don't even really know what we're dealing with. They

don't have any specifics to tell me, just that they are thinking it

is likely that he has a disorder that has been inherited from me. If

it's what they are thinking it could be there is a 30% chance that

any other children I have will also be disabled. I found this earth

shattering because although I am a single mum now, I have always

wanted to have more kids in the future and wanted the chance to raise

a 'regular' kid and to have a brother/sister for my special Zachary.

The doctors have said that because Zach isn't deteriorating and is

still progressing and learning new things they aren't too worried for

now, because that indicates it may be a mild disorder, so they aren't

going to do anymore invasive testing for now. We go back to see him

toward the end of the year and if there has been any changes he will

look into doing a liver biopsy which will provide more answers but is

apparently really risky surgery.

I don't really know what to think. It all sounds so scary. If they

aren't doing any testing for now how are they going to know exactly

what disorder we're dealing with? Or do you just sometimes not get a

specific label?

I'm sorry if this is all a bit jumbled and confusing, I just don't

know what to do next. I've joined a few of these communities because

it's a relief to talk to people who actually know what I'm talking

about, not the ignorant people I normally have to face.

Thanks for reading this far!

Kristy-Lea

[Guest guest]

Hi, welcome to the group and sorry you have to be here. You've

come to the right place. Your son sounds a lot like my 3-year-old son.

He also has global developmental delay, no speech, autistic

characteristics, etc. Yes, it is common to get results that show a

mito disorder but not specifically which one. We have had a diagnosis

for a year now so I guess we're getting used to dealing with this

beast. Feel free to ask questions.

Hello everyone,

I hope it's ok that I'm here. I have a 4 year old son who, for the

past 2 years, has been having hospital appointment after hospital

appointment, test after test in an attempt to work out what's

behind

his global developmental delay.

I'm not very good with medical stuff unfortunately, so please

excuse

my bad attempt at trying to explain things.

As I said he has a global delay, he has low muscle tone, he didn't

walk until 20 months, he still doesn't have functional speech,

problems with fine and gross motor skills. He also has a lot of

autistic characteristics, a lot of obsessive behaviour, problems

with

social interactions, behavioural difficulties etc.

In the past 18 months he has had 4 seizures, the first putting him

in

intensive care and lasting 50 minutes. They have all been teamed

with

either sickness or a high temperature, which can be common, but

because of the severity of the first he is on seizure medication.

He has had every test under the sun that you can think of, his

metabolic doctor has had a field day I think. Some of which weer

very

invasive which I have found hard to cope with. He has had two

abnormal results come back from urine tests and just today we were

told that when doing dna tests on his muscle biopsy they've found

a

defect in his mitochondrial DNA.

It's a relief to be getting some answers finally, but it's still

quite scary. I don't even really know what we're dealing with.

They

don't have any specifics to tell me, just that they are thinking

it

is likely that he has a disorder that has been inherited from me.

If

it's what they are thinking it could be there is a 30% chance that

any other children I have will also be disabled. I found this

earth

shattering because although I am a single mum now, I have always

wanted to have more kids in the future and wanted the chance to

raise

a 'regular' kid and to have a brother/sister for my special

Zachary.

The doctors have said that because Zach isn't deteriorating and is

still progressing and learning new things they aren't too worried

for

now, because that indicates it may be a mild disorder, so they

aren't

going to do anymore invasive testing for now. We go back to see

him

toward the end of the year and if there has been any changes he

will

look into doing a liver biopsy which will provide more answers but

is

apparently really risky surgery.

I don't really know what to think. It all sounds so scary. If they

aren't doing any testing for now how are they going to know

exactly

what disorder we're dealing with? Or do you just sometimes not get

a

specific label?

I'm sorry if this is all a bit jumbled and confusing, I just don't

know what to do next. I've joined a few of these communities

because

it's a relief to talk to people who actually know what I'm talking

about, not the ignorant people I normally have to face.

Thanks for reading this far!

Kristy-Lea

Please contact mito-owner with any problems or

questions.

[Guest guest]

Welcome to the group. I'm sure you will find alot of support here. I did notice that they were considering doing a liver biopsy for your son. Just so you feel more comfortable, my daughter has had 3 of them and did just fine. What type are they considering? The needle type is less invasive but much more risky than the open one. Grace had this type twice, both of wich gave us very little information, and none towards her diagnosis of mito. Her open liver biopsy was done at the same time as her muscle biopsy. This is what finally gave us the diagnosis of mito, although not specific to any known type. I was told that with Grace she definatly does have mito, but she will never have a specific name to her type quite frankly because they have never seen anything like her before.

I'm glad to hear your son is doing well now. Our Grace was very sick as a baby, but since being on the cocktail she has really come a long way.

Best wishes

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[Guest guest]

I am so sorry that you even have to be part of this group, but I will tell

you that this group is made up of some amazing, intelligent,compassionate

and supportive people. I know how shocked you are with all of this

overwhelming information. The UMDF is the best source to start with. They

will send you lots of information and can help you find specialists. I am

glad you even found a doctor that was willing to get as far as you have with

a diagnosis. It took me until my daughter died to get one. Do not be fooled

that just because your child is doing well, there is no rush to get a

specific diagnosis and start aggressive treatment because it might be a

" mild " form. That is just plain not true. The doctors that are " mito

specialist " do not even know enough about the disease to give any definite

answers. I urge you to push for a specific diagnosis and find a good doctor

that knows this disease, develop a close not relationship so you can do the

best for your child step by step as you come along. My daughter died very

quickly in 33 days and she never " looked " like she ever had mito, at least

that is what the doctors tell me now. Then, leanna was diagnosed who is now

7 and still looking really good Leanna has a severe form just like her

sister had and you would never ever believe it and we were told that she

could die just as quickly. I do not feel that the medical field know enough

about mito to ever make a conclusion that a patient probably has a " mild "

form without exhausting all testing. My girls are living proof of this.

Althoug there are no treatments, there are still things that you can do that

help slow down the progression of the disease and things that you should not

do that can make it worse and believe me I did a lot of wrong things with my

first born that I am convinced make her deteriorate faster that if we had

known. Bottom line is that you are really going to have to fight to do what

is best for your child and do not assume the docs know everything because

they do not. Demand that they pursue this and do not put it off. If you want

to see how " normal " my daughter was, you can visit her memorial site at

www.samyahaddad.com and see the hell I went through to get a diagnosis only

after she died. I wish you the best of luck and remember, knowledge is a

weapon and there is always hope.

God bless,

 

 

Suhad Haddad  --  Mom to Samya (Died 12-10-02 of Leigh's Synd.) & Leanna

with same disease.

Samya's Memorial Site: www.samyahaddad.com/.org/.net

Email: Suhad1970@...

Alt Email: Suhad@...

AiM Chat: Suhad1970

Brand New Member - Confused

Hello everyone,

I hope it's ok that I'm here. I have a 4 year old son who, for the

past 2 years, has been having hospital appointment after hospital

appointment, test after test in an attempt to work out what's behind

his global developmental delay.

I'm not very good with medical stuff unfortunately, so please excuse

my bad attempt at trying to explain things.

As I said he has a global delay, he has low muscle tone, he didn't

walk until 20 months, he still doesn't have functional speech,

problems with fine and gross motor skills. He also has a lot of

autistic characteristics, a lot of obsessive behaviour, problems with

social interactions, behavioural difficulties etc.

In the past 18 months he has had 4 seizures, the first putting him in

intensive care and lasting 50 minutes. They have all been teamed with

either sickness or a high temperature, which can be common, but

because of the severity of the first he is on seizure medication.

He has had every test under the sun that you can think of, his

metabolic doctor has had a field day I think. Some of which weer very

invasive which I have found hard to cope with. He has had two

abnormal results come back from urine tests and just today we were

told that when doing dna tests on his muscle biopsy they've found a

defect in his mitochondrial DNA.

It's a relief to be getting some answers finally, but it's still

quite scary. I don't even really know what we're dealing with. They

don't have any specifics to tell me, just that they are thinking it

is likely that he has a disorder that has been inherited from me. If

it's what they are thinking it could be there is a 30% chance that

any other children I have will also be disabled. I found this earth

shattering because although I am a single mum now, I have always

wanted to have more kids in the future and wanted the chance to raise

a 'regular' kid and to have a brother/sister for my special Zachary.

The doctors have said that because Zach isn't deteriorating and is

still progressing and learning new things they aren't too worried for

now, because that indicates it may be a mild disorder, so they aren't

going to do anymore invasive testing for now. We go back to see him

toward the end of the year and if there has been any changes he will

look into doing a liver biopsy which will provide more answers but is

apparently really risky surgery.

I don't really know what to think. It all sounds so scary. If they

aren't doing any testing for now how are they going to know exactly

what disorder we're dealing with? Or do you just sometimes not get a

specific label?

I'm sorry if this is all a bit jumbled and confusing, I just don't

know what to do next. I've joined a few of these communities because

it's a relief to talk to people who actually know what I'm talking

about, not the ignorant people I normally have to face.

Thanks for reading this far!

Kristy-Lea

Please contact mito-owner with any problems or questions.

[Guest guest]

Dear Kristy-Lea

So sorry about the diagnosis and your fears about the future. There are many times they do not know which specific mito disease it is. My son's is unspecified. They are discovering new mutations all the time.

Visit the United Mitochondrial Disease Foundation's website to better understand what you are dealing with and things you can try to see if they help. (www.umdf.org). And try to get to a doctor who specializes in mito disease. UMDF can help with that too. We love Dr. Bruce Cohen at the Cleveland Clinic.

Glad you found this message board. Hang in there.

Donna

mom to Craig (age 8 with unspecified mito) and Dalton (possible mito, but doing well so far)

Brand New Member - Confused

Hello everyone,I hope it's ok that I'm here. I have a 4 year old son who, for the past 2 years, has been having hospital appointment after hospital appointment, test after test in an attempt to work out what's behind his global developmental delay.I'm not very good with medical stuff unfortunately, so please excuse my bad attempt at trying to explain things.As I said he has a global delay, he has low muscle tone, he didn't walk until 20 months, he still doesn't have functional speech, problems with fine and gross motor skills. He also has a lot of autistic characteristics, a lot of obsessive behaviour, problems with social interactions, behavioural difficulties etc.In the past 18 months he has had 4 seizures, the first putting him in intensive care and lasting 50 minutes. They have all been teamed with either sickness or a high temperature, which can be common, but because of the severity of the first he is on seizure medication.He has had every test under the sun that you can think of, his metabolic doctor has had a field day I think. Some of which weer very invasive which I have found hard to cope with. He has had two abnormal results come back from urine tests and just today we were told that when doing dna tests on his muscle biopsy they've found a defect in his mitochondrial DNA.It's a relief to be getting some answers finally, but it's still quite scary. I don't even really know what we're dealing with. They don't have any specifics to tell me, just that they are thinking it is likely that he has a disorder that has been inherited from me. If it's what they are thinking it could be there is a 30% chance that any other children I have will also be disabled. I found this earth shattering because although I am a single mum now, I have always wanted to have more kids in the future and wanted the chance to raise a 'regular' kid and to have a brother/sister for my special Zachary.The doctors have said that because Zach isn't deteriorating and is still progressing and learning new things they aren't too worried for now, because that indicates it may be a mild disorder, so they aren't going to do anymore invasive testing for now. We go back to see him toward the end of the year and if there has been any changes he will look into doing a liver biopsy which will provide more answers but is apparently really risky surgery.I don't really know what to think. It all sounds so scary. If they aren't doing any testing for now how are they going to know exactly what disorder we're dealing with? Or do you just sometimes not get a specific label?I'm sorry if this is all a bit jumbled and confusing, I just don't know what to do next. I've joined a few of these communities because it's a relief to talk to people who actually know what I'm talking about, not the ignorant people I normally have to face.Thanks for reading this far!Kristy-LeaPlease contact mito-owner with any problems or questions.

[Guest guest]

I am sorry that the diagnosis has been Mito but I am sure it must be

of some relief to finally know for sure what is wrong. Welcome to the

group. This is an awesome group full of very caring and informative women.

Feel free to ask anything you might be wondering about.

See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see

a photo look into what Mito looks like

Darla: mommy to

Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomy, SID, global delays, asthma, cyclic vomiting,

bladder issues, wheelchair for distances, eye issues, autistic behaviors,

gastric emptying issues...

Zipporrah (14 months) Mito, strokes, neuro-motor planning dys., SID, GERD,

dysphasia, 100% G-tube fed, speech delays, extreme fatigue, excessive

phlegm, asthma, trach issues, aberrant subclavian artery, disautonomy,

hypertonicity, migraines, possible seizures, dumping syndrome, iron

deficiency, ...

Luke (16), Leah (14), Rachael (13), Isaac (10), Tirzah (8), Kezia (4), &

Marquis (3), Joey & (12 months) (some with Mito symptoms)

Brand New Member - Confused

>

>

>

> Hello everyone,

>

> I hope it's ok that I'm here. I have a 4 year old son who, for the

> past 2 years, has been having hospital appointment after hospital

> appointment, test after test in an attempt to work out what's behind

> his global developmental delay.

>

> I'm not very good with medical stuff unfortunately, so please excuse

> my bad attempt at trying to explain things.

>

> As I said he has a global delay, he has low muscle tone, he didn't

> walk until 20 months, he still doesn't have functional speech,

> problems with fine and gross motor skills. He also has a lot of

> autistic characteristics, a lot of obsessive behaviour, problems with

> social interactions, behavioural difficulties etc.

>

> In the past 18 months he has had 4 seizures, the first putting him in

> intensive care and lasting 50 minutes. They have all been teamed with

> either sickness or a high temperature, which can be common, but

> because of the severity of the first he is on seizure medication.

>

> He has had every test under the sun that you can think of, his

> metabolic doctor has had a field day I think. Some of which weer very

> invasive which I have found hard to cope with. He has had two

> abnormal results come back from urine tests and just today we were

> told that when doing dna tests on his muscle biopsy they've found a

> defect in his mitochondrial DNA.

>

> It's a relief to be getting some answers finally, but it's still

> quite scary. I don't even really know what we're dealing with. They

> don't have any specifics to tell me, just that they are thinking it

> is likely that he has a disorder that has been inherited from me. If

> it's what they are thinking it could be there is a 30% chance that

> any other children I have will also be disabled. I found this earth

> shattering because although I am a single mum now, I have always

> wanted to have more kids in the future and wanted the chance to raise

> a 'regular' kid and to have a brother/sister for my special Zachary.

>

> The doctors have said that because Zach isn't deteriorating and is

> still progressing and learning new things they aren't too worried for

> now, because that indicates it may be a mild disorder, so they aren't

> going to do anymore invasive testing for now. We go back to see him

> toward the end of the year and if there has been any changes he will

> look into doing a liver biopsy which will provide more answers but is

> apparently really risky surgery.

>

> I don't really know what to think. It all sounds so scary. If they

> aren't doing any testing for now how are they going to know exactly

> what disorder we're dealing with? Or do you just sometimes not get a

> specific label?

>

> I'm sorry if this is all a bit jumbled and confusing, I just don't

> know what to do next. I've joined a few of these communities because

> it's a relief to talk to people who actually know what I'm talking

> about, not the ignorant people I normally have to face.

>

> Thanks for reading this far!

>

> Kristy-Lea

>

>

>

>

>

>

>

>

>

> Please contact mito-owner with any problems or questions.

>

[Guest guest]

> [Original Message]

>

> To: <Mito >

> Date: 2/23/2005 2:57:06 PM

> Subject: Brand New Member - Confused

>

>

>Kristy-Lea,

I don't know if you've been dealing with the same doctors this entire time,

but what I've learned so far is it never hurts to get a second opinion if

you

are in doubt of your doctor. I'm new at this too, and we're set up to go to

a second second opinion Wednesday. We are not sure her neuro is the best

for her.

He also has the lets wait and see attitude. If you are not comfortable with

the

tests they want to do, I'd say its definately time to get another opinion.

The

neuro we went to see last was a neuro through the MDA clinic, and he

definately

was not somebody we could put our trust in with Leighann, our daughter.

Like everyone has told me in this group, just because they are a specialist

does not necessarily make them the best doc for your child. Trust your

mothers intuition. If it doesn't feel right, keep searching.

The best thing I can tell you is this is definately a caring and helpful

group.

I'm new to them, and they've helped me so much. Don't be afraid to ask

questions, they will help if possible.

Best of wishes for you and Zach,

Lois

>

> Hello everyone,

>

> I hope it's ok that I'm here. I have a 4 year old son who, for the

> past 2 years, has been having hospital appointment after hospital

> appointment, test after test in an attempt to work out what's behind

> his global developmental delay.

>

> I'm not very good with medical stuff unfortunately, so please excuse

> my bad attempt at trying to explain things.

>

> As I said he has a global delay, he has low muscle tone, he didn't

> walk until 20 months, he still doesn't have functional speech,

> problems with fine and gross motor skills. He also has a lot of

> autistic characteristics, a lot of obsessive behaviour, problems with

> social interactions, behavioural difficulties etc.

>

> In the past 18 months he has had 4 seizures, the first putting him in

> intensive care and lasting 50 minutes. They have all been teamed with

> either sickness or a high temperature, which can be common, but

> because of the severity of the first he is on seizure medication.

>

> He has had every test under the sun that you can think of, his

> metabolic doctor has had a field day I think. Some of which weer very

> invasive which I have found hard to cope with. He has had two

> abnormal results come back from urine tests and just today we were

> told that when doing dna tests on his muscle biopsy they've found a

> defect in his mitochondrial DNA.

>

> It's a relief to be getting some answers finally, but it's still

> quite scary. I don't even really know what we're dealing with. They

> don't have any specifics to tell me, just that they are thinking it

> is likely that he has a disorder that has been inherited from me. If

> it's what they are thinking it could be there is a 30% chance that

> any other children I have will also be disabled. I found this earth

> shattering because although I am a single mum now, I have always

> wanted to have more kids in the future and wanted the chance to raise

> a 'regular' kid and to have a brother/sister for my special Zachary.

>

> The doctors have said that because Zach isn't deteriorating and is

> still progressing and learning new things they aren't too worried for

> now, because that indicates it may be a mild disorder, so they aren't

> going to do anymore invasive testing for now. We go back to see him

> toward the end of the year and if there has been any changes he will

> look into doing a liver biopsy which will provide more answers but is

> apparently really risky surgery.

>

> I don't really know what to think. It all sounds so scary. If they

> aren't doing any testing for now how are they going to know exactly

> what disorder we're dealing with? Or do you just sometimes not get a

> specific label?

>

> I'm sorry if this is all a bit jumbled and confusing, I just don't

> know what to do next. I've joined a few of these communities because

> it's a relief to talk to people who actually know what I'm talking

> about, not the ignorant people I normally have to face.

>

> Thanks for reading this far!

>

> Kristy-Lea

>

>

>

>

>

>

>

>

>

> Please contact mito-owner with any problems or questions.

>