mitochondrial disease/chromosome link

[Guest guest]

I don't know if this information will be helpful to anyone but in case

it is I wanted to share it with others. I'd be interested to know if

anyone has had this same diagnosis.

My son (28 months) has been undergoing testing for 2 years to

determine the cause of his difficulties. In February he was diagnosed

with non-specific mitochondrial disease. In August we went to the

Cleveland Clinic and had more extensive testing done. Through

chromosome microarray analysis it was discovered that has a

deletion on the long arm of chromosome 2 at band 37.3. I got an email

from the Dr. at the Cleveland Clinic today saying it was very probable

that the chromosome deletion is linked to the mitochondrial disease

(now identified as complex IV deficiency). Apparently " there are

several pieces of the mitochondria that are either put together by

proteins made on that terminal piece of chromosome 2 or directly

involved as " bricks " in the structure of the mitochondrial respiratory

chain. " (quote from Dr. P) I share this only because it may be of

interest to other parents of children with mitochondrial disease. A

lot of 's symptoms weren't completely explained by the mito dx.

so now we can understand the bigger picture.

[Guest guest]

, if you wouldnt mind what are some of your sons symptoms.. Hailee is

undiagnosied and our insurance company is refusing to send us to Cleveland and

our dr here is stumped we have labs that are abnormal, but nothing is peicing

together..

[Guest guest]

It started when he was a baby and had poor gaze and difficulty

feeding. He had/has low tone, absent reflexes, elevated CPK

(consistently), elvated lactate/pyruvate, external hydrocephalus, high

arched palate, close set eyes, broad nasal bridge, slow bone

development (his anterior fontanell isn't closed yet and he's still

teething), strabismus, ambloypia, sensory integration dysfunction,

mild autistic tendancies, speech delay, behavioral issues (diagnosed

as ADHD, regulatory disorder), sleep disorder and I'm sure I'm missing

a million other things. What are your son's symptoms?

> , if you wouldnt mind what are some of your sons symptoms..

Hailee is undiagnosied and our insurance company is refusing to send

us to Cleveland and our dr here is stumped we have labs that are

abnormal, but nothing is peicing together..

>

>

[Guest guest]

MICHELLE!

Yes, I meant to yell! My name is , and my 2 and 1/2 year old

daughter's name is Ann. SHE HAS THE EXACT SAME DELETION AS YOUR

DAVID! Are you a member of Chromosome Deletion Outreach? Who do you see at

Cleveland? (Oh, hope of all hopes, it wouldn't be Dr. Gupta, would it?)

We have not yet been diagnosed with mitochodrial disease, but has

a trache, hypotonia, global delays, a feeding tube, and weird weaknesses,

which are not seizures, and which have not yet been defined. If you have

half of a minute, please feel free to e-mail me privately, or on the

list-serv, as I have a thousand and two questions for you, and yet another

thousand and two comparisons that I would like to make.

Thrilled to meet you,

Mama to Alan, 9, Gwendy, 7, and Ann, 2.5, del 2q37.3-qter de

novo.....

mitochondrial disease/chromosome link

I don't know if this information will be helpful to anyone but in case

it is I wanted to share it with others. I'd be interested to know if

anyone has had this same diagnosis.

My son (28 months) has been undergoing testing for 2 years to

determine the cause of his difficulties. In February he was diagnosed

with non-specific mitochondrial disease. In August we went to the

Cleveland Clinic and had more extensive testing done. Through

chromosome microarray analysis it was discovered that has a

deletion on the long arm of chromosome 2 at band 37.3. I got an email

from the Dr. at the Cleveland Clinic today saying it was very probable

that the chromosome deletion is linked to the mitochondrial disease

(now identified as complex IV deficiency). Apparently " there are

several pieces of the mitochondria that are either put together by

proteins made on that terminal piece of chromosome 2 or directly

involved as " bricks " in the structure of the mitochondrial respiratory

chain. " (quote from Dr. P) I share this only because it may be of

interest to other parents of children with mitochondrial disease. A

lot of 's symptoms weren't completely explained by the mito dx.

so now we can understand the bigger picture.

Please contact mito-owner with any problems or questions.

[Guest guest]

What is the chromosome deletion outreach? I'd love to get involved

and learn more. We saw Dr. Parikh, he's new in Dr. Cohen's office.

Is Dr. Gupta a genetist? Ask away with questions, we're not shy about

sharing our story.

> MICHELLE!

>

> Yes, I meant to yell! My name is , and my 2 and 1/2 year old

> daughter's name is Ann. SHE HAS THE EXACT SAME DELETION

AS YOUR

> DAVID! Are you a member of Chromosome Deletion Outreach? Who do

you see at

> Cleveland? (Oh, hope of all hopes, it wouldn't be Dr. Gupta, would it?)

>

> We have not yet been diagnosed with mitochodrial disease, but

has

> a trache, hypotonia, global delays, a feeding tube, and weird

weaknesses,

> which are not seizures, and which have not yet been defined. If you

have

> half of a minute, please feel free to e-mail me privately, or on the

> list-serv, as I have a thousand and two questions for you, and yet

another

> thousand and two comparisons that I would like to make.

>

> Thrilled to meet you,

>

>

> Mama to Alan, 9, Gwendy, 7, and Ann, 2.5, del 2q37.3-qter de

> novo.....

>

> mitochondrial disease/chromosome link

>

>

> I don't know if this information will be helpful to anyone but in case

> it is I wanted to share it with others. I'd be interested to know if

> anyone has had this same diagnosis.

>

> My son (28 months) has been undergoing testing for 2 years to

> determine the cause of his difficulties. In February he was diagnosed

> with non-specific mitochondrial disease. In August we went to the

> Cleveland Clinic and had more extensive testing done. Through

> chromosome microarray analysis it was discovered that has a

> deletion on the long arm of chromosome 2 at band 37.3. I got an email

> from the Dr. at the Cleveland Clinic today saying it was very probable

> that the chromosome deletion is linked to the mitochondrial disease

> (now identified as complex IV deficiency). Apparently " there are

> several pieces of the mitochondria that are either put together by

> proteins made on that terminal piece of chromosome 2 or directly

> involved as " bricks " in the structure of the mitochondrial respiratory

> chain. " (quote from Dr. P) I share this only because it may be of

> interest to other parents of children with mitochondrial disease. A

> lot of 's symptoms weren't completely explained by the mito dx.

> so now we can understand the bigger picture.

>

>

>

>

>

>

>

> Please contact mito-owner with any problems or

questions.

>

[Guest guest]

-

Chromosome Deletion Outreach is a clearing house of sorts for kids/people

with all kinds of rare chromosomal disorders. Right now, I know of about

twenty other kids registered on CDO on-line with similar or exact deletions

for 2q37.3. (Search for their site on google...I don't recall the exact

site...) That list-serv has been very helpful in making our trip seem

normal, and can help to answer questions related to unusual problems because

of chromosomal issues.

Dr. Gupta is a neurologist at CCF, and has been wonderful during our path to

finding exactly " What " is wrong with Elly. The last time we saw a medical

geneticist was over 2 years ago in Akron, and while friendly, they didn't

have a whole lot to say to us.

Goodness-where to start? was diagnosed at birth with multiple

anomalies (she's beautiful, but skewed) like the cleft of her soft palate,

ear formation issues, hypotonia. We tested chromosomes right away, and the

karyotype came back fine, but the FISH test came back with the 2q deletion.

The only thing that the geneticist could tell us was that there had been an

instance or two of situs inversus with the deletion.

At about 12 months we installed the g-tube in Elly, and at about 16 months

we trached her. We've repaired the cleft of the soft palate, done a fundo

and a fundo revision, installed ear tubes. She has weekly ST/OT/PT/DT. She

sees a Pulmonologist, a cardiologist (Aberrant right sub-clavian artery off

of a left aortic arch, retro-esophageal-doesn't affect function), an

orthopedic surgeon, a neurologist, a developmental pediatrician, a pediatric

ophthamologist, an ENT, a plastic surgeon, a behavioral therapist, a

Gastroenterologist. We've been in x-ray so many times that the radiologists

call us by name. Her pediatrician threatened to put her chart on wheels if

she didn't start behaving.

For the first year of her life, Elly didn't move very much at all. For the

first 5 months or so she was generally non-responsive, and very lethargic.

I used to have to wake her up to make her move. After we installed the

feeding tube she didn't have to work so hard. She actually prop-sat on her

own at about 14 months. And she started crawling at about 18-20 months.

She started walking at about 27 months. She still has severe dysphagia, and

gets only about 15% of her caloric intake by mouth.

We have been having episodes (Throughout her life, but very often recently)

of regression and inexplicable weakness. Her balance, which was never

really great, is now Horrid. She has been firmly diagnosed with

dysautonomia, and cerebral hypotonia. She has global delays, and odd

episodes of regression. She also has episodes of one-sided weakness. We

were talking about a possible diagnosis of Alternating Hemiplegia of

Childhood, but she doesn't fit there exactly either. Seizure like episodes,

with no seizure activity, MRIs which show a smaller brain than typical with

slightly more fluid.

Sigh. Enough. Just wanted to share a small bit of history with you. I

will forward my phone and address to your private e-mail account. I would

love to speak with you.

Re: mitochondrial disease/chromosome link

What is the chromosome deletion outreach? I'd love to get involved

and learn more. We saw Dr. Parikh, he's new in Dr. Cohen's office.

Is Dr. Gupta a genetist? Ask away with questions, we're not shy about

sharing our story.