1523Re: Just returned from Boston
- Dec 2, 2004Hi, All!
I just wanted to let you know that Austin's genetic test came back
and we've been told that his MTM1 mutation is one that they've never
seen before. From what I've read they've identified 193 mutations,
and it looks like Austin's is the 194th. Now I'm wondering how can
that be? Lisa received a copy of the results, but I haven't seen it
yet. She was also tested yesterday, and the results should be back
within two weeks.
Austin's had a few ups and downs since I last wrote. He's still
having reflux, and the Zantac doesn't seem to be helping him. I
suggested they try Prilosec (thanks, Shannon!), but the pediatrician
told Lisa that she doesn't like to give Prilosec to infants Austin's
age - she thinks it's too strong. She wouldn't prescribe it for
Austin, so he's still having feeding problems. The good news is
that they've adjusted the Robinul dosage and he's much more alert -
even beginning to smile! I'm going out to Boston again this month
for 10 days, to spend Christmas with them.
I had to see what a bipap is before answering Shannon's question,
but the answer is no, Austin's not on bipap. He seems to be doing
well without any respiratory assistance. I just wish he didn't have
feeding problems, as he really needs to put on some weight to get
One last question. Have any of you participated in any XLMTM
studies? There's one going on at Boston Childrens Hospital, but
Lisa and Fred have been reluctant to participate because they were
pretty turned off by the huge team of geneticists who periodically
came to Mass General while Austin was in the NICU. If any of you
have participated I'd like to see what's involved, and if you felt
it was beneficial. Many thanks for any information you can provide!
--- In Myotubular_Myopathy@yahoogroups.com, "Shannon"
> Hi Carolyn,
> I am so glad that you had a great trip to Boston. I am glad that
> they tried the Robinul. We have found great success. I think it's
> success varies with those with a trach, but we have found that it
> works well for Javad. He takes it four times a day.
> I encourage Lisa to have genetic testing done (if they haven't
> already) through the UNiversity of CHicago. Her MD can order to
> test (it's a blood test) done on Austin so they can determine thethe
> mutation (if there is one). They can also do a test in utero if
> bext child is a boy. Just a thought. DOn't ever lose hope withUnfortunately,
> Austin. Obviously many of these boys have defied the odds. THat is
> mostly due to parental insistence and perserverence!
> many of the medical professionals have old information which has a
> grim outcome for these boys. We have shown them different.
> Is Austin on bipap? It has been wonderful for Javad.
> PLease remember that this is a place for you and Lisa!
> Talk to you soon!
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