RE: [Myotubular_Myopathy] New to this group need some help
I am glad you found this group, the people here are amazing, and let you know you are not alone.
I have a son who, Jack who is 14 months old. He has a G-tube, Trachy is on a Vent.
We were told the same thing, that it was unfair to keep Jack on support as we had a 4 year old at the time to think about, we do not have home nursing here in Australia. So its hard to get support..
I hope to hear more about you and your family,
Jacks webpage : www.caringbridge.org/oceania/jack
From: miracleshappenant01 [mailto:miracleshappenant01@...]
Sent: Thursday, 30 October 2003 7:01 AM
Subject: [Myotubular_Myopathy] New to this group need some help
Hi everyone, my name is Tina Katz and I live in Monroe, CT with my 4To unsubscribe from this group, send an email to:
sons and husband. My baby Anthony not a baby anymore has Myotubular
Myopathy MTM1. He is 21/2 years old now and I am so very proud of
him. At birth we had no idea that anything was wrong until I
delivered and he wasn't breathing on his own. He was trached and
given a G-tube at 3 months. Prior to that I was told that Anthony
would have brain damage and it would be a unfair life for him and my
other 3 boys if we kept him on life support. Well with the support
of our family and God's love we knew what the right thing to do was.
He knows about 30 signs, he is so active and catches on so quickly to
act out all the nursery rymes. I guess in 2 years I never knew these
groups existed. It would be great to be able to talk to another mom
that truly can say I know what your going through. Please let me
know if this is how I am supposed to communicate.
Thank You so much, Tina
Your use of Yahoo! Groups is subject to the Yahoo! Terms of Service.
- Hi, Pat!
Yes, my immediate family is very supportive (husband,
daughter, myself). As far as extended family goes- it
is varied. We moved 9 hours away from all of our
family (due to husband's job change) just 3 months
before Benjamin was born. Most everyone came down
when he was born and were supportive at the time,
however, not living near him has skewed that original
intent. I have even had close family suggest that
after all these months I might reconsider taking my
son off of the ventilator or maybe 'putting him in
some kind of a HOME'. I know they are trying to think
of what would be best for us- but, what about
Benjamin? What about what's best for him? This
saddens me that they view him the way a lot of medical
personnel in the past (and present) viewed him- of
course, a lot of them are medical personnel...
As far as family history goes, it is very strange. My
mother's family has a long history of male babies
dying after birth: my great grandmother had 11 infant
boys die shortly after birth, my grandmother had 1
male neonate die shortly after birth, my mother had
one male infant die, my aunt had 3 singleton male
neonates and 1 set of twin male neonates die shortly
after birth- in addition she had another set of male
twins and one died shortly after birth, the other one
is my cousin, John. She also had a set of girl twins.
In 1987, one of these twins- my cousin, Shelly, had
a male baby- who was very premature- who died 4 hours
after being born. In 1989, she had a full term baby
boy who was having trouble breathing. He was admitted
to the NICU in a Missouri Children's hospital- 3 mos
later, he was diagnosed with centro nuclear myopathy,
and Shelly was told there was no hope for him
(Gregory) and that they should be 'humane' and turn of
the ventilator. They agreed at first, but she
couldn't stand it and she made them re-intubate him.
Several more times they pressured her to take him off,
but each time, she had them put the tube back in. The
last time this was done, Gregory surprised them all
and began to breathe on his own! An hour later, he
was still breathing on his own, and 3 days later, he
was still breathing with no assistance! So, he was
discharged to their home with a portable suction
machine and an NG tube. They had him home for
approximately 4 mos when a tragic thing happened.
While in the car, their portable suction machine broke
down. Sadly, by the time they could get him anywhere
for help, it was too late- he aspirated and died.
Then, the children's hospital contacted Shelly and
said they were doing research on centro nuclear
myopathy and that it was very rare. In fact, they
were the "ONLY FAMILY IN THE USA REPORTED AS HAVING
THIS" and they were certainly "THE ONLY FAMILY IN THE
USA WITH A FAMILIAL LINKAGE OF CNM" So, they
requested blood from everyone in the family who was
sill alive, and they tested us. Using linkage
analysis, they reported who was and was not a carrier.
My mother was reported as a carrier. So were one of
my sisters and I. Remember though, this 'research'
was done in 1989, and the MTM1 gene was not discovered
until 1996. Well, at the time, I was 17 years old,
far removed from the rest of my mom's family (my
father was in the military). In fact, I never knew
this cousin of mine at all. Essentially, I tucked
away this information on a back burner of my mind. I
got married in 1994, and my daughter was born in 1995.
In August of 2000, the children's hospital in
Missouri re-contacted my cousin to tell her that they
were going back over old research and they realized
that all of the testing had been done incorrectly and
that all of the results were skewed and wrong and that
if we wanted to know real (true) results, we would
have to get retested. Only, now they weren't't doing
research anymore so we would each have to be tested at
the U. of Chicago at the cost of $3,000 each.
Knowing that no one had the money for this, and
thinking that no one except she and her husband were
interested, she told only one aunt about being
contacted. In Sept of 2000, I became pregnant again.
I was elated! it had been 6 long years of trying
with no avail. The genetic testing done 11 years
earlier was not on my mind at all- I had completely
forgotten. My mother, however, did not, and she
worried incessantly (to herself). Finally, she told
my sisters her fear, and they approached me. 'How
silly,' I thought. 'Such worriers!' When the first
ultrasound revealed that I was carrying a boy- they
really fretted. I brushed them casually aside,
thinking, 'have they nothing better to do?' Our
insurance did not cover the genetic testing from Uof
Chicago. 'Just as well,' I thought. I mean, who wants
to go through 5 more months of being pregnant, all the
while KNOWING that something is wrong with their
child? Not me. So, on June 21, 2001, my son, Elijah,
was born! He was so beautiful and tiny and thin and
floppy and... he wasn't breathing. 'This is not real.
It isn't happening- it will all go away soon,' I
thought. Then I watched while, for 30 minutes, my
precious child was 'bagged', all the while being
coaxed to breathe by the nurse who was squeezing the
bag. I wanted to jump off of the bed and help him-
his seemingly lifeless body kept puffing up off of and
then, alternately, sinking back down onto the isolette
with each contraction of the am-bu bag. Finally, the
pediatrician arrived. (There are no major medical
facilities where he was born). Elijah was swaddled
quickly and placed in my arms for a few brief seconds.
I could finally see his tiny little face, his thick,
jet black hair, his beautiful long hands. I called
out to him and he opened his eyes! Yes, he even
turned his head in our direction, and he opened his
mouth as if to cry- but no sound came out, only
silence. All the while his color was becoming more
and more dusky. He was whisked away and I was left
numb, wondering what had just happened. Suddenly, I
thought of LeeAnn- where was she? I needed to hold
her. I wanted to be the one to tell her about her
brother. My brother-in-law had taken LeeAnn and her
cousins out to eat. I demanded to go to the nursery
to see my son. When I arrived, I saw this big (22
inches long) boy with this tiny frail body, hooked up
to so many machines and wires. He looked so perfect,
so peaceful. I asked to hold him. When he was placed
in my arms it felt as if he were a hollow toy with
some sort of battery-operated mechanism inside (the
ventilator). I immediately fell in love! All around
me was sadness- everywhere I looked. From family, to
the nurses, to visitors, to the physicians- all were
grim-faced or weeping, but I was smiling. I was
proud! the doctor came over and told me that there
was no hope for him. I just stared at him blankly. He
said that my son would not live. 'Where is LeeAnn?' I
thought again. She was so looking forward to having a
baby brother- now what will she do? I don't want
anyone else to tell her! Besides, they are wrong. We
will just wait this out until morning- it will all be
fine. But all evening long, people kept coming in
weeping as if they were saying goodbye to him, in
fact, they were saying 'goodbye' to him and 'I'm
sorry' to us. The next morning, we were told that he
was just barely alive. He was dying, cellularly,
before our eyes. That it would be so much nicer for
us if we could remember holding him without all the
wires and tubes attached, but we only had a window of
opportunity to do this, because he was slipping away
minute by minute. We kept pushing the decision off
longer and longer. But they were relentless. We were
so tired and confused and scared. We didn't want our
baby to die- and we certainly did not want to be the
decider's of such fate. But, these are the
'professionals'. Don't they know what they are
talking about? Even family members who have medical
backgrounds said things looked grim. Do we not have
any support? Are we fools for not wanting what seemed
so obviously right to all the 'knowledgeable' people?
We argued to the last minute and persisted in 'just a
little while longer' until we were exhausted.
Regrettably, we relented, and our sweetie baby was
extubated, and the machines were turned off. They
handed him to us- he just kept looking up at us, his
eyes moving back and forth from one of us to the
other. We held him and rocked him and sung to him and
prayed over him and cried for him for what seemed like
only seconds... Soon, he was turning a different
color. Is this real? LeeAnn ran to get the rest of
the family; the rest of the time, Elijah was passed
around from one person to the next, as each one took
turns holding him and rocking him and weeping over
him. I held him and held him and held him. I have
never cried so much or so intensely in my life. I
can't even tell you when it was that he passed- there
was no definite moment. All together we had him alive
with us for only 23 1/2 hours. A man from the funeral
home came to get him, and we had to sign papers. I
looked over at the isolette where he had lain, and I
saw a small, square-shaped, bundle wrapped in the
blankets used to line the isolettes. I walked over
and laid my hand on the bundle- it was firm, a very
snug wrap. But it definitely held the form of a small
body. I knew this was what was left of my son. I
turned away with bitter tears and a broken heart. An
hour later, I walked out of the hospital with his
packed diaper bag, my overnight bag, the balloons I
had received during labor, and my daughter in my arms.
Remorse? Regret? Constant sheering pain? Wishing
for a second chance? A never- ending ache? Wondering
how in the world so much could have occurred in so
little time? Wondering how such a previously avid
anti-euthanasia person could come to such a result?
Me, too. It was all so sudden and so quick. We were
so pressured and felt so isolated, alone, and
powerless. Mix that with the extreme exhaustion, and
emotional turbulence that go along with childbearing,
and maybe there's an answer. Maybe I can now look not
so judgmentally on those who have made similar
choices. Maybe this experience made us strong enough
to fight for Benjamin- no matter what. I believe
things happen for a reason. I don't know what all the
reasons are, but in the end, it all works out- doesn't
it? Six months after Elijah was born, I became
pregnant again. At 4 months, I found out it was a
boy. At 6 months, we had a major career adjustment
and we ended up moving- 9 hours away from our
families. Benjamin was born on Sept 12, 2002 in a
major city, near a major children's hospital. We had
no idea going into the labor whether or not he would
be affected, but we were prepared. We told them the
possibilities, what the old literature says, what the
reality is, what we wanted, and what they were to do-
if he was affected. Because of this, they prepared
the neonatology team and we planned an induction date.
Benjamin, however, had other plans! He came 3 days
before the planned induction!! Even so, the neo team
was prepared- even at 1 am! He was intubated 6
minutes after being born. He was in the NICU for 2
1/2 months before he finally came home with us. He
is an absolute treasure and a joy! A lot of hard
work, too, but aren't all good things? I say, YES!!!
Tonight is my night up with him- we do not have
nurses on the weekends. Godspeed.
--- redscootee@... wrote:
> Sounds like your family is very supportive.
> You are right! Benjamin does sound like he is a very
> bright young man.
> Looking forward to hearing more about your family.
> I gave info on my family on my reply to Tina.
> Meant to ask her too does anyone else in your family
> have mtm? We think
> my mom did but she passed away before we were dx'd
> 13 years ago. We have
> just had a firm dx of mtm for 5 years.
> take care pat
> World of__________________________________
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- Tina, HI! I am glad you found this group also (I am also happy that
it has been so active lately), because I love communicating with
other mtm parents. Your story sounds much like ours. My son,
Jacob, was born at 40 gest. age. We had no indication that anything
would go wrong (although we knew my family history, but of course
thought, "It will never happen to us!"). His doctor also told us
that it would be best for us to take him off the vent, but from what
we knew from my family history, these boys live happy, productive
lives; there was no way we were letting that happen. The ONLY
reason he was on/off the vent so much in the beginning was because
he kept aspirating his oral secretions, so we began pushing for a
trach and g-tube, and he finally got it at 5 weeks of age. He came
home 10 days later and it has only been uphill since. He is know 21
months (as of tomorrow) and is just as sharp as a tack. He just
amazes me more and more everday with his intelligence and humor. I
read were Connie said that Ben falls over purposefully when they try
to sit him up. Jacob did/still does the same thing and he just
thinks it is so funny. He will also fall back when I am holding him
on my lap. He is also acts out "Itsy-Bitsy Spider" and "Twinkle,
Twinkle Little Star".
Your family sounds divine, but you must be one busy mom! WOW! Four
boys. I just have my Jacob and I feel overwhelmed sometimes, but I
won't complain anymore; I will just think of you :-)
Again, it is great to be able to chat with you. I hope we can keep
this board busy. I like it especially because it is such a small
Take care, Amanda (Jacob's mom)
--- In Myotubular_Myopathy@yahoogroups.com, "miracleshappenant01"
> Hi everyone, my name is Tina Katz and I live in Monroe, CT withmy 4
> sons and husband. My baby Anthony not a baby anymore hasMyotubular
> Myopathy MTM1. He is 21/2 years old now and I am so very proud ofmy
> him. At birth we had no idea that anything was wrong until I
> delivered and he wasn't breathing on his own. He was trached and
> given a G-tube at 3 months. Prior to that I was told that Anthony
> would have brain damage and it would be a unfair life for him and
> other 3 boys if we kept him on life support. Well with thesupport
> of our family and God's love we knew what the right thing to dowas.
> He knows about 30 signs, he is so active and catches on so quicklyto
> act out all the nursery rymes. I guess in 2 years I never knewthese
> groups existed. It would be great to be able to talk to anothermom
> that truly can say I know what your going through. Please let me
> know if this is how I am supposed to communicate.
> Thank You so much, Tina
- Connie, That is so fantastic that Ben can talk above his trach.
Jacob has always made sounds above his, but never said anything. He
now wears a passy-muir valve and has always made preliminary
sounds. He also says "Hi", "uh-huh", and "huh-huh" - very cute. We
are trying so hard to get him to talk and he actually mouths the
words sometimes, but is having a hard time putting sound to it. He
does know many signs, for which I am very thankful. He has no
problem telling us exactly what he wants. Jacob also like to be
hung upside down. His face will turn bright red and he just keeps
signing, "more, more, more!". Too cute!
Amanda (Jacob's mom)
--- In Myotubular_Myopathy@yahoogroups.com, connie guinn
> Hi, Tina! My name is Connie. I live in Texas with my
> husband, son, and daughter. My son, Benjamin, now 13
> mos old, was born with mtm. He was floppy at birth
> and unable to breathe and so was intubated. A month
> later he was trached and given a g-tube. We were told
> that he wouldn't live to be 1 year old. He is
> incredible! He is such a delight- so loveable! His
> big sister, LeeAnn, adores him- she is his second
> 'mom':o) Benjamin talks above his trach; he says
> 'mama', 'dada', 'no-no', 'baba', 'wa-wa-wa', etc. He
> is working on sign language and can sign'eat' and
> "mother' and 'father'. He loves books and being read
> to. He also loves being swung upside down by his
> feet! He has been home since he was 2 1/2 mos. And
> he is as smart as a whip!! I mean, this kid is
> brilliant!! We love him tremendously, and do not
> regret fighting for his life. I have a sense of what
> you have gone through, but I can't imagine having 3
> others at the same time!! I am here to talk with you
> about anything- please feel free to write again. This
> group is very friendly and helpful. Godspeed.
> --- miracleshappenant01
> <miracleshappenant01@y...> wrote:
> > Hi everyone, my name is Tina Katz and I live in
> > Monroe, CT with my 4
> > sons and husband. My baby Anthony not a baby
> > anymore has Myotubular
> > Myopathy MTM1. He is 21/2 years old now and I am so
> > very proud of
> > him. At birth we had no idea that anything was
> > wrong until I
> > delivered and he wasn't breathing on his own. He
> > was trached and
> > given a G-tube at 3 months. Prior to that I was
> > told that Anthony
> > would have brain damage and it would be a unfair
> > life for him and my
> > other 3 boys if we kept him on life support. Well
> > with the support
> > of our family and God's love we knew what the right
> > thing to do was.
> > He knows about 30 signs, he is so active and catches
> > on so quickly to
> > act out all the nursery rymes. I guess in 2 years I
> > never knew these
> > groups existed. It would be great to be able to
> > talk to another mom
> > that truly can say I know what your going through.
> > Please let me
> > know if this is how I am supposed to communicate.
> > Thank You so much, Tina
> Do you Yahoo!?
> Exclusive Video Premiere - Britney Spears
My husband is very supportive. I am an only child. My mom passed away 16
years ago before we had a dx even of md. Looking back she also most
likely was a manifesting carrier. My dad finally went in for the blood
test and does not have md. Thus he does not talk about it at ALL with
me. He will either change the subject or not reply at all. I contributed
to an article in the Quest magazine about family reactions and then I
sent him the article. Never heard if he read it or not. Here is the page
if you care to read it.
<a href="http://www.wtv-zone.com/mdaww/family.html">Family Reactions to
Although our situations are different I can understand the
disappointment and heartache family can cause.
I have often wondered if I knew that we had x linked myotubular myopathy
would I have still had my children and I can't see how I would have done
As you say about Benjamin is such a joy!
If you ever need to vent cuz family is giving you a hard time vent away!
I was wondering if you would mind if I put your story about Elijah and
Benjamin on our site? I was fortunate, to have had my daughter Jennifer
for 32 years before she succumbed to a complication of xmtm. When my son
found out he has xmtm he blamed me. I just told him I had no way of
knowing we had it and no matter what I love him very much. He is finally
accepting it and taking better care of himself. He is 28.
We also have an article on our site about mtm that is very inspirational
also. It talks about the doc thinking the one patient would not live
beyond his first year and he is still thriving at 12? not sure of his
age now. He will accompany her on lectures from time to time. Nice to
see when a doc can admit they were wrong. (S) Here is the article. <a
In todays day and age kids are given a much better chance of living
longer and better quality of lives.
You and others on this list are like a breath of fresh air. Your
children are so precious and are lucky to have the parents they do that
show through lots of hard work and love anything is possible.
If anyone else would like to send their story or has a web site we would
love to include yours as well. We feel it is important to get the word
out on md. I get so tired of ppl saying oh you have ms. (GRR)
Have really enjoyed all the successes of your children. Tx for sharing.
Someone had asked where everyone was from. My husband and I live in
Roanoke, VA U.S.A., at the foot of the Blue Ridge Mountains. Beautiful
view out our windows.
take care pat
- Pat, Thanks for your response- you certainly do have a
lot of experiences to share. I read the article- that
is so accurate. How would I go about putting
Elijah's and Benjamin's stories on your site? I know
the boy that you were mentioning (from your site).
His name is John Scoggin. We live 30 minutes from
them and we are in touch with them quite often. Take
--- redscootee@... wrote:
> My husband is very supportive. I am an only child.
> My mom passed away 16
> years ago before we had a dx even of md. Looking
> back she also most
> likely was a manifesting carrier. My dad finally
> went in for the blood
> test and does not have md. Thus he does not talk
> about it at ALL with
> me. He will either change the subject or not reply
> at all. I contributed
> to an article in the Quest magazine about family
> reactions and then I
> sent him the article. Never heard if he read it or
> not. Here is the page
> if you care to read it.
> Reactions to__________________________________
> Although our situations are different I can
> understand the
> disappointment and heartache family can cause.
> I have often wondered if I knew that we had x linked
> myotubular myopathy
> would I have still had my children and I can't see
> how I would have done
> things differently.
> As you say about Benjamin is such a joy!
> If you ever need to vent cuz family is giving you a
> hard time vent away!
> (G) BTDT
> I was wondering if you would mind if I put your
> story about Elijah and
> Benjamin on our site? I was fortunate, to have had
> my daughter Jennifer
> for 32 years before she succumbed to a complication
> of xmtm. When my son
> found out he has xmtm he blamed me. I just told him
> I had no way of
> knowing we had it and no matter what I love him very
> much. He is finally
> accepting it and taking better care of himself. He
> is 28.
> We also have an article on our site about mtm that
> is very inspirational
> also. It talks about the doc thinking the one
> patient would not live
> beyond his first year and he is still thriving at
> 12? not sure of his
> age now. He will accompany her on lectures from time
> to time. Nice to
> see when a doc can admit they were wrong. (S) Here
> is the article. <a
> In todays day and age kids are given a much better
> chance of living
> longer and better quality of lives.
> You and others on this list are like a breath of
> fresh air. Your
> children are so precious and are lucky to have the
> parents they do that
> show through lots of hard work and love anything is
> If anyone else would like to send their story or has
> a web site we would
> love to include yours as well. We feel it is
> important to get the word
> out on md. I get so tired of ppl saying oh you have
> ms. (GRR)
> Have really enjoyed all the successes of your
> children. Tx for sharing.
> Someone had asked where everyone was from. My
> husband and I live in
> Roanoke, VA U.S.A., at the foot of the Blue Ridge
> Mountains. Beautiful
> view out our windows.
> take care pat
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- Connie, Thanks so much for allowing us to share your story. I will put
it on our site and let you know when it is on. Does Benjamin have a
favorite color or cartoon character or something? If he does I will try
and look for a background along those lines for the story.
Like Toni mentioned in her email ppl seems to enjoy reading the personal
stories. I think it gives them a much better picture of what living with
a nmd is like.
take care pat
benjamin's favorite, by far, is Elmo!! Godspeed.
--- redscootee@... wrote:
> Connie, Thanks so much for allowing us to share your__________________________________
> story. I will put
> it on our site and let you know when it is on. Does
> Benjamin have a
> favorite color or cartoon character or something? If
> he does I will try
> and look for a background along those lines for the
> Like Toni mentioned in her email ppl seems to enjoy
> reading the personal
> stories. I think it gives them a much better picture
> of what living with
> a nmd is like.
> take care pat
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