New to group: how were your children diagnosed?

[Guest guest]

Hi! I am a new member, and my daughter - Daphne - is 10 months old. She

has infantile spasms (a seizure disorder), hypotonia, coarctation of the aorta

(a congenital heart defect) and milk protein intolerance. Her doctors have no

idea what the cause is of her seizures/ developmental delay, and she's

undergone pretty extensive genetic testing, and everything's come back

negative, so far.

We still need to do a muscle biopsy and an MRS. On Friday we had a visit to

Daphne's opthamologist, who noticed changes in her eyes since she was last

examined about 6 months ago. First, there was some scarring in one eye,

second her optic nerves were pale (optic atrophy). Her doctor said this could

indicate a mitochondrial disorder.

I thought I'd introduce myself, and was hoping you wouldn't mind telling me

how and when your children were diagnosed. I noticed some in the group

said the mito disorder was unspecified... and I was wondering how they know,

then, that it's a mito disorder?

I'm also really new to all of this, so any other information you could share

would be much appreciated!

Thanks,

[Guest guest]

Hi ,

>snip<

>First, there was some scarring in one eye,

> second her optic nerves were pale (optic atrophy). Her doctor said this

could

> indicate a mitochondrial disorder.

******Optic atrophy can be a symptom of a mito disorder. I don't know which

ones though.

>snip<

>I noticed some in the group

> said the mito disorder was unspecified... and I was wondering how they

know,

> then, that it's a mito disorder?

******My boys are suspected of having a mito disorder, but nothing has been

confirmed via (LOTS of)testing. The doctors are basing their dx on the

brain damage and abnormal bloodwork.

I hope you can put a name to the disease your child is thought to have.

While it won't change the outcome, there is some comfort in knowing. I have

always hated not having a firm diagnosis no matter how much I try not to.

Sue & Jack, worn out parents to the greatests kids on earth, Las Vegas, NV--

(14) & Billy (12)--both with Leigh's Disease (?), MR (mild), g-tube.

Billy--fundo, trach (larynotracheomalacia), vent 24/7, nice straight spine

(thanks to rods!). Chris-no left hip socket! Visit us!

http://members.cox.net/jscb

[Guest guest]

IMHO ( and his doctor's)The seizures are from the P part of the d*mn

DPT shot- it is grown on milk protein. My second son is also allergic to milk protein- you are living my nightmare

of when he was younger. Of course, the Tylenol we gave him just made things worse, as Tylenol depletes gluthianione.

The seizures should stop- my son had a stroke after the 3rd DTP, seizures from the 1st two. ( The "professional"

he had at the time convinced me that they were not spasms, just an immature nervous system-not)

My third son lost his speech and developed a lazy eye after the 3rd one, but was not

nearly as sick as an infant, and had never had milk protein or an antibiotic. He has regained his speech, and CLO

( cod liver oil) has corrected his lazy eye. If you want any suggestions, email me off-list. gstone98@...

Cindy-GA

New to group: how were your children diagnosed?

Hi! I am a new member, and my daughter - Daphne - is 10 months old. She has infantile spasms (a seizure disorder), hypotonia, coarctation of the aorta (a congenital heart defect) and milk protein intolerance. Her doctors have no idea what the cause is of her seizures/ developmental delay, and she's undergone pretty extensive genetic testing, and everything's come back negative, so far.We still need to do a muscle biopsy and an MRS. On Friday we had a visit to Daphne's opthamologist, who noticed changes in her eyes since she was last examined about 6 months ago. First, there was some scarring in one eye, second her optic nerves were pale (optic atrophy). Her doctor said this could indicate a mitochondrial disorder.I thought I'd introduce myself, and was hoping you wouldn't mind telling me how and when your children were diagnosed. I noticed some in the group said the mito disorder was unspecified... and I was wondering how they know, then, that it's a mito disorder?I'm also really new to all of this, so any other information you could share would be much appreciated!Thanks,

[Guest guest]

Welcome, ! We have twin daughters who were diagnosed through a muscle

biopsy. Many of their blood/urine tests also came back abnormal which pointed

our neuro towards the mito diagnosis. My girls also have seizures. They have

generalized, myoclonic and absence seizures. I'm glad you have found this

group and I hope you will find answers to your questions and support when you

need it.

Kim - Mom to and Lindsey (2) Partial Complex I, Mason (4) healthy,

Delaney (7) healthy, Husband Matt

> Hi! I am a new member, and my daughter - Daphne - is 10 months old. She

> has infantile spasms (a seizure disorder), hypotonia, coarctation of the aorta

> (a congenital heart defect) and milk protein intolerance. Her doctors have no

> idea what the cause is of her seizures/ developmental delay, and she's

> undergone pretty extensive genetic testing, and everything's come back

> negative, so far.

>

> We still need to do a muscle biopsy and an MRS. On Friday we had a visit to

> Daphne's opthamologist, who noticed changes in her eyes since she was last

> examined about 6 months ago. First, there was some scarring in one eye,

> second her optic nerves were pale (optic atrophy). Her doctor said this

could

> indicate a mitochondrial disorder.

>

> I thought I'd introduce myself, and was hoping you wouldn't mind telling me

> how and when your children were diagnosed. I noticed some in the group

> said the mito disorder was unspecified... and I was wondering how they know,

> then, that it's a mito disorder?

>

> I'm also really new to all of this, so any other information you could share

> would be much appreciated!

>

> Thanks,

>

>

>

>

>

>

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

>

[Guest guest]

Welcome.

" Her doctors have no

> idea what the cause is of her seizures/ developmental delay, and

she's

> undergone pretty extensive genetic testing, and everything's come

back

> negative, so far. "

Sounds just like my son 4 years ago. No one could pin point the

cause of his seizures. He had numerous metabolic tests done at

birth and everything was normal. Every test always came back

normal, nothing was out of range. We finally went to Mayo and had

numerous tests done there and the geneticist shook his head and said

I don't know what else to test for. He had a suspicion that it was

mito but everything was coming back normal. So finally Wyatt was

sick, usually we're not to happy about that but this time we were.

Sure enough his lactic acid was elevated and that lead to a skin

biopsy which determined complex I. A year later we did a muscle

biopsy and it came back in the gray zone. He could have complex I

and II, but the numbers weren't low enough yet they were not normal

either. Based on his symptoms, the skin biopsy, and that nothing

else has shown any sign of beign abnormal we have concluded that he

has complex I. Long answer to your question. HTH, post if you have

any other questions.

Geri-Anne and Wyatt, Complex I

> Hi! I am a new member, and my daughter - Daphne - is 10 months

old. She

> has infantile spasms (a seizure disorder), hypotonia, coarctation

of the aorta

> (a congenital heart defect) and milk protein intolerance. Her

doctors have no

> idea what the cause is of her seizures/ developmental delay, and

she's

> undergone pretty extensive genetic testing, and everything's come

back

> negative, so far.

>

> We still need to do a muscle biopsy and an MRS. On Friday we had

a visit to

> Daphne's opthamologist, who noticed changes in her eyes since she

was last

> examined about 6 months ago. First, there was some scarring in

one eye,

> second her optic nerves were pale (optic atrophy). Her doctor

said this could

> indicate a mitochondrial disorder.

>

> I thought I'd introduce myself, and was hoping you wouldn't mind

telling me

> how and when your children were diagnosed. I noticed some in the

group

> said the mito disorder was unspecified... and I was wondering how

they know,

> then, that it's a mito disorder?

>

> I'm also really new to all of this, so any other information you

could share

> would be much appreciated!

>

> Thanks,

>

[Guest guest]

,

My daughter andria is 4 years old and also had seizures at 3 months old and Infantile Spasms at 8 months. My daughter went on to have multiple health problems before Mitochondrial disease was explored. andria was diagnosed in October 03. Feel free to e-mail me to discuss a little more. lexicam24@...

Heidi

[Guest guest]

Welcome to the group.

Our daughter, Grace, is 2 years old she was diagnosed last summer via muscle/liver biopsy. She did have a lot of supporting bloodwork before the biopsy, but it confirmed the mito diagnosis. My child is labeled Non Specific Mito, because they have never seen her type of Mito before. She fits into many of the categories, but not one particular. For her, she is deficient, or the low end of normal in chains I,II,III,V (I think those are the ones, can't remember), her complex IV chain is actually overcompistating and has a 10 fold production (in her liver only). Also, every one of her mitochondria are mutated. From what I understand they are abnormally large and have very short cristae. Her pathology report is interesting because the review simply states "no normal mitochondria found".

Dr. Cohen does believe she also has some sort of secondary FOD but this is also a non specific diagnosis. He has informed us that we will probably never have any specific name for her disease, other than Mitochondrial Disease. She also has had some secondary testing done on her biopsies and they have all confirmed that she definitely has the disease, but nothing specific.

Unfortunately, this disease is just so new that there is just not enough information to have every type of mito found, yet. Although my daughter will never have a specific name, at least they are learning from her.

Best Wishes, I hope you do find a specific answer from your daughters biopsy.

[Guest guest]

Regarding your doctors vision, my mito doc asked me to take

my daughter to a nuero-opthamologist for an evaluation. There are only 300 in

the country, so it may be rather tricky, however I found it to be very

beneficial.

They try to help determine the cause of

the vision impairment or muscle weakness if it is nuerological, or energy

related or otherwise…Some specialize in young children and some do not.

In my case, my daughter has several eye muscle impairments that make her vision

still functional, but helped pinpoint the mito.

There is also a flash erg test that will

help determine if the retina is affected- which often is the case with

mitochondrial. This however may require sedation, so check with your doctor,

and research affects of anesthia on mito

patients ( see www.umdf.org) for paper

written by Bruce Cohen on the subject.

Anyway, I would research this and try to

find that type of appointment ( nuero-opthamologist). Bring brain MRI with you

and complete med. History. My opthamologist is the best in town but I was

amazed at the 4 pages of info the nuero-opthamologist found and how it helped

us.

Suzanne

[Guest guest]

Hi , Welcome to the group! I have a 7 yr old diagnosed with non specific mito. She had a muscle/skin biopsy done at the age of 2 1/2 at our local hospital. It was frozen. The initial results were inconclusive, but indicated general abnormalities of her mitochondria. The muscle was sent to Columbia U in NY and the skin to Canada for further testing, BUT not enough of the sample was left to do it. All of her labs were abnormal in a general nature, including her MRI's and all of her clinical symptoms are neurological in nature, but not specific to any disease or syndrome. Her former neuro told us he did as much testing as he could, and that she has something very rare or unknown, but is definatly mito/metabolic in nature.

She is currently under new neuro care, and they seem more proactive about her case, so I don't know if she will have any future testing or not. HTH

e, Chelse's mom(nonspecific mito)