Myotubular Myopathy Member Introductions

#17

Hi, I am Isis, mother of Gabriel Emilio, from LA/ Rio de Janeiro. We’ve been “stuck” in Rio since the birth of my twins, Gabriel and HannaH. Gabriel has XLMTM and we are desperate for a geneticist… for someone here to “translate” all that is going on… We’ve found a LOT of support on the yahoo group. And lets expand to this new group now!

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#18

id like to talk to other mums who have children with mtm i have 3 boys 2 have suspeacted mtm ages 4 and 2

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#19

I am a 34yo male with CNM.

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#20

I’m a parent of a 10 yr-old boy with MTM. I want to connect with other parents as much as possible.

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#21

Hi, my name is Jenna and my two year old daughter, Allison was diagnosed with Centronuclear Myopathy in May of 2007. Some of you may already know me from yahoo groups. I am still learning a lot about CNM and would love to hear from anyone who has or has children with this disorder.
Special note to my mom who told me about this community: THANKS for looking out mom!

~Jenna~ 22 yr old mother of 2yr old Allie with CNM

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#22

I’m a 22 year old female, and have just been diagnosed with Centronuclear Myopathy

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#23

my son alexander may possibly have myotubluar myopathy and i would like to meet and conversate with others in the same situation

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#24

Hi everyone!! Some of you might know me from the yahoo group, although I have not been around in a while. My name is Dana, husband Roy, 2 sons: Corey will be 18 in November and Cason just turned 4. Cason has MTM. He has been very floppy and sick since birth and after many many test and 2 muscle biopsies we got the diagnosis of MTM when he was 2years old. Cason has a trach & g-tube. For the 1st 3 years Cason spent more time in the hospital than at home. We are proud to announce that Cason has been 16 months without 1 single hospital stay !!!HOOORRAAYYYYYY!!! I live in Jacksonville Florida and look forward to meeting others, hopefully closer to us, to share with. Thank you.

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#25

I am a grandmother of an 8yr old who was born with MM and is living with my husband, myself, mom, dad and his brother. He not had any recent hospitalization but may be undergoing a fundaplacation soon (this was not done when his original G-Tube was put in). He is on a pulmonetic venilator. Since I do a lot of his home care it sometimes gets very stressfull. I would like to connect with other grandmothers and learn more about getting his bowels to move on their own. Sincerely, Barbara (grandmother)

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#26

grandson possibly has mtm, we live in nj and would like more info

                                                             thanks mary
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#27

Hi my name is Linda and Im from Sweden my father and I have myotubular myopathy. And my father sister and there cousin, the all got it after 45 I got it when I whas around 18.

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#28

Hi my name is kmi my son was diagnosed with the x linked MTM. i would like to meet someone with the similar MTM

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#29

Hi, gang. I’m the grandmother of a wonderful boy with x-linked MTM. He will be 5 in May, and I’m looking for ways to assist him in communicating. He has had a trach since infancy and, although we know he understands everything we say, he really doesn’t speak. He signs a little with help, but his weak arms and hands make signing hard. He sings along with us and with the others in his play group, but it’s hard for him to make consonants with his weak muscles. He has figured out how to shift his air flow to make different sounds.

Anyone having similar issues?

Julie

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#30

I have a son with x-linked mtm. We have done all of the genetic testing and know what his mutation is but there are no other kiddos with this mutation so the docs are unable to give us much info on how he will progress. Right now Christopher is healthy and growing. His movement continues to be better then expected and he’s started smiling and smirking in the past 3 weeks which has been fun to see. We are hoping that he will be home by the end of the month.
I would love to chat with people with kids with mtm to find out how you live everyday life. I’m really struggling with how limited activity’s will be once Christopher comes home but i also really want him out of the hospital. I also have a son Benjamin who just turned two in Dec. I want life to stay as normal for him as possible but I also want to keep Christopher healthy and out of the hospital. We have really had huge variation of opinion of what to expect life to be like for Christopher. Our geneticist is surprised every time he sees Christopher because he continues to gain strength and improve. Change happens gradually but to go from not moving at all to shaking a rattle and smiling has been very cool to see. Christopher is on a vent and will come home with it. He’s doing about 4hrs a day on cpap but we’re going to step his settings down very slowly because he just started growing and thriving in the past month.
Anyway I would love to hear other people stories and share life experience living with mtm.

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#31

Hello there! I have a son named Luke was diagnosed with x-linked myotubular myopathy. He’s 4 months old and will be having surgery to have a trach put in. I would like to connect with others who have children with this disease.

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#32

Hello careplace i got new pics if you like chek thm out!

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#33

I was reading mixednut’s story and it sounds about the closest thing to my story that I’ve heard so far. My son Jackson was born December 27, 2007, and has x-linked myotubular myopathy. He was born with next to no muscle (floppy, I hate that word, sorry) and was not breathing at first. Jack did eventually breathe on his own for the first weeks of his lief, but then he had 2 episodes and they intubated him. He only stayed on cpap for a couple days, then just about 10% o2, and then they put a tube in his throat, and eventually he had surgery, trach, g-tube, nissen, muscle biopsy, circ, and about 2 months later when he was almost home from the place we were learning to care for him at (Our Children’s House Baylor, in Dallas, TX) we learned he had this bizarre disease. We were told there wasn’t a lot they could do, most babies like him die from complications (like pneaumonia) that it was all up to him. I have to say I was probably the only one who refused to believe that this was the end of the road for my boy. I also have a two year old little boy, Reid, who is perfectly healthy, so to me there was no way. So, now I say to you that Jack is 7 months old this week, and he has improved so much in such a short amount of time that his list of Dr’s that we see pretty regularly are all amazed. He moves around, he rolls from side to side, he brings his arms and legs up, and holds onto his feet. He loves to hold on to his pulse-ox-probe chord and pull his legs up that way. He smiles, he frowns, he plays with his toys, and all this is just the beginning. I’ve had tons of help, but I also do a lot on my own. Reid is taking it hard, he doesn’t understand why Jack has to have so much attention, an dhe’s used to being the center of EVERYONE’s attentioon. I have to say that whatever nursing you can get your hands on is key not just for your son who has the disease, but for you, your 2 year old, and your sanity. I have been extremely lucky b/c we don’t have a lot of $ we have state funded health insurance, but there are lists you can get on to get extra nursing, it takes awhile to get someone you and your family is comfy with, but it is oh soooo worth it. I do feel guilty about not being able to take care of both my boys all the time, b/c I knew having a 2 yr old and a new baby was insane, but I have learned that it is IMPOSSIBLE to do it any other way. If you would like to talk further that would be great. I really don’t know how this thing works, this is my first time so if nothing else my e-mail is jonathefabulous@yahoo.com. Thanks for sharing your story!

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#34

Hey all, my name’s Chris and I’m a 22 year old guy who was born with this condition (some of you may know me!) although I was never given a firm diagnosis and it appears to be quite a mild form, since my mobility is pretty reasonable and I’ve never been on a vent.

That said, I’m still a sufferer and always looking to get in touch with others, especially in the UK!

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#35

I live in the northeast and suffer from seasonal depression. I basically hibernate from november until april. Besides moving, I’d really like to talk to people about how they’ve conquered their depression. I’m a really cynical person and depression has got me beat :confused:

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pinned #36
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