jack

[Guest guest]

Hi,

Thank you for your responses. I realized I didn't share enough about

my son Jack. Part of me struggles because he is doing so well, but

the other part is petrified of what the future will hold. Jack was

born full term and healthy. He was a planned repeat c-section since

I had a placental abruption at 32 weeks with my first son .

(Matt is now a healthy 4 1/2 year old) I breastfed for 10 months,

and during this time, Jack was robust and healthy. He was in the 95th

percentile for his weight. At his first year check up, he had not

achieved any milestones, ie pulling to a stand, standing or walking.

I wasn't very concerned. What concerned me was the fact that Jack

wasn't eating or growing. He became constipated, and we were

referred to our GI doctor. Long story short, he was diagnosed with

failure to thrive (he went under the 10th percentile) reflux,

constipation, and gastroparesis. Our GI doctor was the first to

mention a biopsy and Dr. Shoffner in Atlanta. He was concerned

because Jack had underlying hypotonia. We received our diagnosis in

August, which I can honestly say I still don't quite understand. It

doesn't seem very specific... Jack is now stable, unless he gets a

cold, etc. Many people don't think anything is " wrong " with him

because he looks so good. He has achieved many milestones and we are

thankful. That is why I am here, for support, information and

research. I want to do whatever I can get the word out about

mitochondrial disease and I thought this would be a good place to

start. Sorry for rambling on, but it is nice to actually tell my

story to people who will understand.

Thank you,

[Guest guest]

,

Jack sounds very much like my Asher (almost 4 now). Asher seemed fine and

healthy when born, did okay, but did have some feeding problems early on.... at

9 months, ped noted that he wasn't crawling, then we finally got a PT eval and

he was 3 standard deviations below the norm (couldn't crawl, walk, or pull to a

stand). After lots of physical therapy, Ash " looks " perfectly normal to the

outside viewer and can mostly keep up with most kids (altho, if you look close,

there's a qualitative difference in physical abilities). Shoffner dx Asher with

Mito, Complex III defect and possible Complex I defect. Our major problem has

been the gastrointestinal - Ash's intestines slowed down so much that he stopped

eating when he was about 2 1/2. He had a g-tube put in last March and has since

grown and thrived, except that he is severely constipated. We are going for a

colonic motility test in Boston in Feb. and Asher may have to have a cecostomy

b/c he can no longer tolerate the laxatives/suppositories and the oral meds to

speed up his system do not work.

Ash does fatigue more than his peers, but cognitively he is at or above his age

level. More of his story is on the Personal Journey page at the UMDF website.

The UMDF website is a great source of info as is this group.

Anyhow, Welcome. I know that it is hard to live with the 'unknown' of the

future, but that also can give us the hope that our kids will do okay with the

new supplements, etc.

Anne R