Re: [Myotubular_Myopathy] Hi
- Hi,I agree with Amanda. It sounds like your sister has the autosomal recessive type. My grandson,Kyle, has X linked-MTM. We are expecting another grandson in October who also has the Xlinked-MTM. This we found out through genetic testing. If you really want to know if there is a possiblity of you having a child with this, then you should have the genetic testing. There is a 1 in 2 chance you may or may not be a carrier. If you are a carrier with the genetic testing you can be better prepared for when you do have children.We wish you and your sister all the best. We will keep her in our prayers.Darlene----- Original Message -----From: tinabeana24Sent: Tuesday, June 07, 2005 10:47 PMSubject: [Myotubular_Myopathy] HiI started writting this giving a backgroung, but I decided that
was not so important so here is a synopsis. I am the first child of
3 girls. My youngest sister was Dx w/ myotubular myopathy within
her first 3 months of life. SHe was born 12/3/1989.
During her life she has had multiple respiratory problems that
have prompted hospitalizations and surgeries. SHe has a g tube d/t
aspirations and a trach. SHe has also had scolisis surgery and
others that I can't think of right now. She gained strenghth for
several years. I recall when she was a toddler she would scoot
across the floor on her bottom. She could sit up by herslef and was
in PT to gain strenght to posssibly stand. Then she got pneumonis
and was trached. SHe has never gained back that strentgh. FOr a long
time though she reached a plateu in which she sat up with a little
support and sometimes by herself, eat a little without difficulties
(this is not for nutriton but for socializing), reun her elec
wheelchair, and raise and lower her arms from the elbows to hands by
herslef to scratch or move her glasses or whatever (at this time she
did not have strenght to raise are w. shoulder.
About 2 years ago she started becoming weaker instead of being
on the vent at night it is all day now (her vent is a bi pap/cpap
not a ventilator). She needs help to raise her arm to move her
glasses. She sits up with support only and although she has steel
rods inher back she is leaning over to the left when she sits up so
she not only requires supprt behain but beside her as well. She can
still feed herself as long as her elbows are on the table and she
only had to raise and lower her hand to the plate. At times though
she is too weak to eat or even sit up. She requires more and more
frequent suctioning of the trach.
She has alliveatedd many respiratory illnesses by homeschooling
but recently her lung collapsed and then she accuired psedomonious
for the 3-4 time with staph as well. This time it are worse than
ever. The DR wanted IV meds which he tries to get out of d/t
difficulty getting IV and PICC lines in. This time they could not
get either and a port was placed. She just finished her IV therapy
Friday so I hope she is completely over it. Her pulmonologist told
my mom when the trach was placed we had probably bought her 10 more
years and we are coming to the end of the end of the ten years. HE
gets blunt with mom because otherwise things don't sink in. So as we
have experienced her whole life the doctor is telling us she is
going to die, but we all will die someday I'm tiresd of hearing
she'll never make it out of the hospital, she won't live to be 3,
she will never be a teenager, she doesn' have much longer. I just
am happy for everyday we have with her.
I do not know which type of MTM she had d't my mom does not know
or maybe does not remember. WHen looking through information she
does not seem to fit any type to me. I wonder is there are any
female out there like her. I read about boys like her.
Also I am 24 years old and engaged we are going to want
children. My mom says we do not need genetic testing, but I wonder
if we do. I do not wasnt to bring a child into this world with
MTM. Although my sister has a great attitude and is a straight A
student her life has been so hard I don't want my children to have
to live through this. Does anyone know?
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