40Re: [Myotubular_Myopathy] XMTM
- Apr 21, 2003Jessica,
Hello! My name is Connie.
I have a son, Benjamin, who was born with MTMX. He is
7 months old, trached, and has been on room air since
he was born, and has been on CPAP. It seems as if we
have a lot in common and will be able to exchange lots
of experiences (when there's time!) Benjamin got his
trach when he was 1 1/2 mos old. I believe that the
trach is so much easier on them for several reasons:
1) there is less trauma to thier tissues 2) there is
less fear about it coming out because, if it does fall
out, it can be replaced easily (by anyone) whereas
only a physician or nurse practitioner can replace an
endotracheal tube 3) with an endotracheal tube, you
will likely never get the opportunity to fully hear
your son's voice the way you can with a tracheotomy.
It's no guarantee that you will, but the likelyhood is
greater. Also, please know that a tracheotomy is
not a permanent thing- if warranted, it can be taken
out (called decanulation), and the stoma on the neck
will heal up and form a small scar (it kinda looks
like a smiley face). It certaily can't hurt- I mean,
if your son is needing some sort of pulmonary
support(regardless of what kind), then this is
definitely an option worth checking out. How much
did your son weigh when he was born? What was his
length? Was he full term? Did you have excessive
amniotic fluid during your pregnancy? What is his
height and weight now? Do you have any other
children? Benjamin was born on Sept 12, 2002 in
Houston, Tx. he weighed 7lbs 5.5oz and was 20&1/2
inches long. He was born at exactly 39 weeks
gestation. I did have excessive fluid during my
pregnancy- to the point that the last five days before
he was born, he was continually turning from the 'head
up' position to the 'head down' position (as confirmed
by ultrasound),yet, I had no knowledge that he was
turning like that except for the ultrasound images!
Now, Benjamin is 31 inches long and weighs over 21
pounds- he is enormous! I do have another child, a
daughter, LeeAnn. Write when you can. I understand
the time restraints. I, myself, am writing this from
the Ronald McDonald House. Take care.
Congratulations on your wonderful, amazing son. I am
so excited to find someone else who has an infant with
MTMX! The information everyone with older boys
supplies is helpful, but it can be very hard to
vividly remember back to these early days. i hope we
both can benefit from one another.
--- evilpixiecat <evilpixiecat@...> wrote:
> I have a son who was born 8 weeks prem who has been__________________________________________________
> diagnosed with XMTM, they have found the mutation
> and our genetisist
> says there is only one other boy with Jack's
> mutation, as there is
> around 200 hundred different mutations that have
> been found.
> apparently his mutation is usually associated with
> the severest form,
> however the other boy in europe was aged 16 in 1997
> when this paper
> was written.
> We all know that each child is different and they
> differently, but i am desperatley seeking other
> parents with children
> as special as ours.
> I am from Australia and i just started to get in
> contact with the
> Scoggins and the Frase's. but as we are all so busy
> with our
> beautiful boys contact is slow in coming.
> My son Jack is 6 months old, but only just 4 months
> corrected. he was
> ventilated at birth and remained vented for 5 weeks,
> then he was put
> on CPAP. He eventually was weaned down to CPAP of 5.
> Since birth he
> has only been on air, apart from suctioning etc.
> we tried him off the CPAP for 1 1/2 morning and
> eveing. but he failed
> to gain weight so we stopped.
> His Improvements have been great his arms and legs
> are getting
> stronger and he reaches out for toys and can hold
> his head
> momentarily, and is improving in this.
> However he swallow isnt productive. he can cough and
> bring up his
> secretions to be suctions. I would says his eyes are
> unaffected apart
> from some occassional partial eye closure some
> And he hasnt been 'trached. we are hoping to avoid
> it. but if jack
> gets to the point of not developing from having the
> nasal phar tube
> in and he seems not to be getting off the CPAP for
> extended Periods
> we will trach him.
> i would like to know if a trach will help come off
> the CPAP as in
> making the airway bigger.
> I have so many questions, so few people in contact
> I hope i can speak to any of you.
Do you Yahoo!?
The New Yahoo! Search - Faster. Easier. Bingo
- << Previous post in topic