Hi all

The test results are back.  Kyle and Kayla are getting a baby brother.
And, yes he has X-linked MTM.  October will be a busy month for us.
We already have 5 birthdays that month.

Take care,

Darlene

Hi all

The test results are back.  Kyle and Kayla are getting a baby brother.
And, yes he has X-linked MTM.  October will be a busy month for us. 
We already have 5 birthdays that month.

Take care,

Darlene

Wow, well first of all congrats :o) and good luck.
Its good that you have a diagnosis before your baby is even born,
because the severity of the condition depends on not only the
genetics, but on how quickly the doctors pick up on it, there have
been many cases whereby the baby has gone 2-3 hours without medical
intervention (they don't fare so well), basically the sooner the
baby gets help breathing the better his/her chances are.

This is not only true in XLMTM but of all hereditary congenital
myopathic conditions that effect the lungs.

The fact that you have a prenatal diagnosis suggests that there is a
known history of MTM in your family, so you will probably know what
to expect, things like polyhydramnios (excessive amniotic fluid),
which if you suffer from badly they can drain some off (this is not
dangerous for you or the baby), this may help with the discomfort.

I would like to congratulate you again, and wish you all the best of
luck, and just remember this, 20-30 years ago the chances for a baby
with MTM were not good, but now we have a better understanding of
the condition and better technology to give a baby born with the
condition the very best care.

All the best Moz & Rachel



--- In Myotubular_Myopathy@yahoogroups.com, "Darlene" <dm4462@m...>
wrote:
> Hi all
>
> The test results are back.  Kyle and Kayla are getting a baby
brother.
> And, yes he has X-linked MTM.  October will be a busy month for
us.
> We already have 5 birthdays that month.
>
> Take care,
>
> Darlene

Hi Darlene,

Congratulations on the upcoming grandson. I agree with others
(Including you!) that it is helpful to at least know...you can be
prepared and be ready. Having them live next door is indeed a gift.
You know so much and can be helpful. At least the battle won't be
fought without knowledge.

I have been reading about Kyle and am wondering if you can tell me
about his therapy...quantity, etc. I am talking to Javad's therapist
and see of we can increase PT to twice a weeks during the summer and
increasing water therapy to once a week (instead of alternate weeks).
  I want to show them Kyle as a reason to increase. Now that Javad is
healthy I think he can be getting stronger with more therapy.

Any info you can give is great. Also, how much does Kyle weigh and how
tall is he? They are closest in age.

Shannon

PS I will keep the new baby in my thoughts that they will have clarity
for the future.

Our son was born on 01/01/2005 yep New Year's day.

My wife had polyhyramnios, and reduced fettle movement in the later
stages of her pregnancy, but apart from that the pregnancy went very
well, she had a short labour and was only pushing for about 30
seconds, then out popped a beautiful baby boy, he looked "normal"
but after a couple of minutes we noticed he was going a funny
blue/purple colour, the midwife then pushed the alarm button, and
two midwifes/nurses rushed in and took our son (his name is Marconi
by the way) into another room, the midwife who had delivered our son
was still in the room with us so we asked her what was happening,
she just said its probably nothing its just that the baby was
delivered so quickly he was probably in shock, and needed some help
getting his breathing started.

Quite some time had passed (about 30 mins but it felt like hours)
and still no news, I went out of the delivery room to find out what
was going on, at this point I was told Marconi  was being taken to
I.C.U.

I felt terrible for leaving my wife in the room all by her self, but
at the same time I had to be with our son, at this point I was told
to wait outside I.C.U in the waiting room, I could hear lots of
machines bleeping (they were driving me mad) after about an hour of
listening to the bleeping machines I decided to take a look, all I
saw was about 6 doctors and nurses huddled around an incubator, one
doctor looked at me as if to say you shouldn't be here, so I left
thinking they were busy seeing to another baby.

I then went back to be with my wife, she kept asking me what they
were doing, but I had no idea myself, shortly afterwards we were
told that we could go and see our son and that he had been put on a
ventilator, when we did go to see him we found a tiny baby 6lb 4oz
who looked all the more tiny because he had his legs hunched up so
that his knees were by his armpits, he was completely floppy and
inactive, we couldn't see much of his face as the ventilator was
covering most of it, I remember thinking to myself hasn't he got
long toes, but thought nothing more of it at the time, at this point
the nurse took a Polaroid photo.

We were then told that our son had to be transferred to another
hospital as they didn't have the incubators and resources to keep a
baby in an incubator long term, I was happy however to find out that
he was going to hope hospital as that was the place I was born, and
a very good hospital too, shortly after arriving at the new
hospital, Marconi was took of the ventilator after less then 14
hours of being put on it, this was the first encouraging sign, he
was then put on CPAP and gradually weaned off the IV drip and fed
expressed milk by NG tube.

At this point the doctors started to ask questions about my wife and
her family, we had already told them all we knew, they seemed to
focus all the questions on her and her side of the family, my wife
also has a two year old son (Regan) from her previous relationship,
he was also born with the same problems, but all the doctors told
her at the time was that it was a benign hypotonia, no mention about
the possibility of it happening again.
I was so fed up of the doctors telling me that they don't know what
it is yet, they did lots of tests on Regan including DNA but found
nothing wrong, so I decided to do some research myself on the net, I
was at least able to determine that it was some sort of muscle
disease, at first I was convinced it was congenital myotonic
dystrophy, but the doctors said that they have already checked for
that in Regan and all the genetics came back clear, I then took a
look at MTM and this seems to answer many questions, like why dose
it seem that only baby boys are born like this in the family?

Marconi was then transferred to Leeds after spending his first week
in Manchester, by this point he had been in 3 different hospitals in
just a week, but we were glad to have him in Leeds because that's
where we live, he was only born in Manchester because we were
spending New Year with my family who live in Manchester.

As the days went by we could see Marconi getting stronger, opening
his eyes more and his cry had gone from a silent one to a quiet one
that you clearly hear, he was also beginning to move about a lot
more, he was took off CPAP and then put on oxygen, and at age 3 and
a half weeks he started to feed from the bottle.

Marconi came home at 1month old exactly 28 days, and has been doing
very well ever since, he is still a floppy baby but is getting
stronger every day and gives the most beautiful smiles, both Marconi
and Regan are so full of life it is hard to believe that the doctors
were unsure if they would make it from one day to the next.

We still don't have a diagnosis, the doctors want to perform a
muscle biopsy on Regan as he is older and they are more likely to
find the cause of the problem in him as his muscles are more mature,
I will be seeing a neurologist on 19/05/2005 I hope to find some
answers soon, in the meantime I have some questions that you may be
able to help me with, firstly dose the child need to be anesthetised
for a muscle biopsy, and are there any increased risks of things
like malignant hyperthermia under anaesthetic or
anaesthetic awareness for children with XLMTM?

Thank you for reading our story Moz & Rachel

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Hi Moz and Rachel,

Congratulations on Marconi. Also well done on getting yourself so
informed - that is vital to the support and care of Marconi - as you
probably have read, you will become more informed than the Dr's around
you.

Good luck and God Bless and welcome to the group. Your story is very
similar to all of ours. The confusion of not knowing what is wrong with
your baby is very frustrating, and I wish the hospitals would have
someone to just come and tell you. When Matthew was in hospital (he was
there for 17 months), I would spend a lot of time talking to the Dad's,
just to let them know what to expect. The first sight of your baby with
tubes wires and machines is horrifying.

But it sound like Marconi is a strong boy and is doing well. Post
pictures some time so we can get a visual of what you all look like.

Cheers

Janice

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Moz and Rachel,

Reading your story is like many of our own. My son, Javad, was not
diagnosed intil he was almost 2 yrs old. He had been diagnosed with
Congenital Myasthenia Gravis until then. He is three and a half. When he was
born, he also was very floppy and had to be put under an oxygen hood. He
was transferred after 24 hours to a hospital that specializes in children. He
was never put on a ventilator, but has had multiple hospitalizations for
respiratory infections.

Javad had a muscle biopsy over a year ago. He did have to be put under, but
he did not have an difficulties. They put tubes in his ears at the same time.
Javad also had to put under when he had his surgery for undescended
testicles ( common issue with these boys). I would suggest if they are
planning any other procedure, do them at tem same time. The muscle biopsy
is very quick...day surgery only.

I hope that things go well for both Regan and Marconi. If I read correctly, they
think that both boys might be affected?  We on this group have found the
same as you...these boys are full of life. What gifts!

Talk with you soon!

Shannon

Thanks you for the help and advice Janice & Shannon

We have now uploaded some pics of Marconi, and will soon add some of
Regan too.



--- In Myotubular_Myopathy@yahoogroups.com, "badboymoz2004"
<badboymoz2004@y...> wrote:
> Our son was born on 01/01/2005 yep New Year's day.
>
> My wife had polyhyramnios, and reduced fettle movement in the
later
> stages of her pregnancy, but apart from that the pregnancy went
very
> well, she had a short labour and was only pushing for about 30
> seconds, then out popped a beautiful baby boy, he looked "normal"
> but after a couple of minutes we noticed he was going a funny
> blue/purple colour, the midwife then pushed the alarm button, and
> two midwifes/nurses rushed in and took our son (his name is
Marconi
> by the way) into another room, the midwife who had delivered our
son
> was still in the room with us so we asked her what was happening,
> she just said its probably nothing its just that the baby was
> delivered so quickly he was probably in shock, and needed some
help
> getting his breathing started.
>
> Quite some time had passed (about 30 mins but it felt like hours)
> and still no news, I went out of the delivery room to find out
what
> was going on, at this point I was told Marconi  was being taken to
> I.C.U.
>
> I felt terrible for leaving my wife in the room all by her self,
but
> at the same time I had to be with our son, at this point I was
told
> to wait outside I.C.U in the waiting room, I could hear lots of
> machines bleeping (they were driving me mad) after about an hour
of
> listening to the bleeping machines I decided to take a look, all I
> saw was about 6 doctors and nurses huddled around an incubator,
one
> doctor looked at me as if to say you shouldn't be here, so I left
> thinking they were busy seeing to another baby.
>
> I then went back to be with my wife, she kept asking me what they
> were doing, but I had no idea myself, shortly afterwards we were
> told that we could go and see our son and that he had been put on
a
> ventilator, when we did go to see him we found a tiny baby 6lb 4oz
> who looked all the more tiny because he had his legs hunched up so
> that his knees were by his armpits, he was completely floppy and
> inactive, we couldn't see much of his face as the ventilator was
> covering most of it, I remember thinking to myself hasn't he got
> long toes, but thought nothing more of it at the time, at this
point
> the nurse took a Polaroid photo.
>
> We were then told that our son had to be transferred to another
> hospital as they didn't have the incubators and resources to keep
a
> baby in an incubator long term, I was happy however to find out
that
> he was going to hope hospital as that was the place I was born,
and
> a very good hospital too, shortly after arriving at the new
> hospital, Marconi was took of the ventilator after less then 14
> hours of being put on it, this was the first encouraging sign, he
> was then put on CPAP and gradually weaned off the IV drip and fed
> expressed milk by NG tube.
>
> At this point the doctors started to ask questions about my wife
and
> her family, we had already told them all we knew, they seemed to
> focus all the questions on her and her side of the family, my wife
> also has a two year old son (Regan) from her previous
relationship,
> he was also born with the same problems, but all the doctors told
> her at the time was that it was a benign hypotonia, no mention
about
> the possibility of it happening again.
> I was so fed up of the doctors telling me that they don't know
what
> it is yet, they did lots of tests on Regan including DNA but found
> nothing wrong, so I decided to do some research myself on the net,
I
> was at least able to determine that it was some sort of muscle
> disease, at first I was convinced it was congenital myotonic
> dystrophy, but the doctors said that they have already checked for
> that in Regan and all the genetics came back clear, I then took a
> look at MTM and this seems to answer many questions, like why dose
> it seem that only baby boys are born like this in the family?
>
> Marconi was then transferred to Leeds after spending his first
week
> in Manchester, by this point he had been in 3 different hospitals
in
> just a week, but we were glad to have him in Leeds because that's
> where we live, he was only born in Manchester because we were
> spending New Year with my family who live in Manchester.
>
> As the days went by we could see Marconi getting stronger, opening
> his eyes more and his cry had gone from a silent one to a quiet
one
> that you clearly hear, he was also beginning to move about a lot
> more, he was took off CPAP and then put on oxygen, and at age 3
and
> a half weeks he started to feed from the bottle.
>
> Marconi came home at 1month old exactly 28 days, and has been
doing
> very well ever since, he is still a floppy baby but is getting
> stronger every day and gives the most beautiful smiles, both
Marconi
> and Regan are so full of life it is hard to believe that the
doctors
> were unsure if they would make it from one day to the next.
>
> We still don't have a diagnosis, the doctors want to perform a
> muscle biopsy on Regan as he is older and they are more likely to
> find the cause of the problem in him as his muscles are more
mature,
> I will be seeing a neurologist on 19/05/2005 I hope to find some
> answers soon, in the meantime I have some questions that you may
be
> able to help me with, firstly dose the child need to be
anesthetised
> for a muscle biopsy, and are there any increased risks of things
> like malignant hyperthermia under anaesthetic or
> anaesthetic awareness for children with XLMTM?
>
> Thank you for reading our story Moz & Rachel

Thanks Darlene for the info. I have talked to his PT and she is going
to see if we can increase his PT to 2 hrs a week during the summer. I
would like him to be seeing an OT more often. He sees one with his
water therapy which I am going to try to increase to once weekly and
then I am also going to see if she can see him for OT also once a
week. I am really motivated by Kyle's progress. I feel that Javad has
been really held back by his multiple hospitalizations. Right now we
are battling with him gaining more weight. He is retaining water (they
have him on prednisone) and I think that they are going to need to
increase his lasix again. It's frustrating!

PLease keep my daughter Stesha in your thoughts. She is battling a
constant ankle injury (which she reinjured tonight), but they can't
seem to come up with a plan to help strengthen it! Argh! She hurt it
on Halloween this last year!

Talk with you soon!

Shannon

Regarding apnia monitors

We want to get an apnia monitor for our son, we were just wondering if
we need to buy one ourself or can the hospital supply him with one?

The only reason we ask is because we are having trouble sleeping and
keep waking up to make sure he is all right.

Have any of you used them before? What do you think of them?

Thanks Moz & Rachel

Regarding apnia monitors

We want to get an apnia monitor for our son, we were just wondering if
we need to buy one ourself or can the hospital supply him with one?

The only reason we ask is because we are having trouble sleeping and
keep waking up to make sure he is all right.

Have any of you used them before? What do you think of them?

Thanks Moz & Rachel

Javad came home on an apnea monitor from the hospital, but since apnea
hadn't really been a  problem, we switched to a portable pulse oximeter when
he was 2  months old. We use that now. We have an Ohmeda (not the best
but does an adequate job!) The medical insurance actually paid for it with no
problem. It helps to have a dr to prescribe it.

Shannon

Connie,

 

Kyle had a CT scan  about 2 years ago.  Nothing was said about anything being unusual. 

 

Darlene

----- Original Message -----

From: connie guinn

To: Myotubular_Myopathy@yahoogroups.com

Sent: Friday, May 06, 2005 1:50 PM

Subject: [Myotubular_Myopathy] CT scans and hydroma

Hello everyone!

 

I was wondering if any of the boys have had CT scans (CAT scans) done on their heads?   I also was wondering if any of them have been diagnosed with hydroma?  If anyone has any hsitory with these things, please let us know.  Benjamin recently had a CT scan of his head which revealed bilateral hydroma.  The pedi neurologist and the pedi neurosurgeon both think that it is due to the size of his head (that his brain is normal in size, but his head is so big, that his body compensated by building the fluid in order to keep the brain cushioned in the skull).    He has a repeat CT scan scheduled and an MRI, also.  I will let you know what I find out.  In the mean time, if anyone has had experience in this area,  please let me know. 

  

I still am only online about once a week or less, but I will get back to you.  I hope everyone is doing well.

 

Kyle, you amaze me each time I read about you!  Keep up the good work!!

 

Godspeed,

                 -Connie  

---

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Regan's story

Hi I'm Rachel, Regan & Marconi's mum and this is the story of Regan
My second son, I have 3 boys Jordan aged 7, Regan aged 2 years and 8
months, and Marconi aged 4 months, both Regan & Marconi were born
with problems, we still don't know what it is, but we and the
doctors suspect it's XLMTM, you may have already read Marconi's
story, this is Regan's story.

My son Regan was born on the 01/10/2002 he was so beautiful, I was
only in labour a short time and one push he was out, my mother then
noticed his colour and alerted the midwife, she then gave him some
oxygen and handed him back to me, we laid there together just
looking at each other then my mum and I cried, she held him I
noticed she kept pulling back his blanket, she then told me that he
wasn't a well baby but not to worry (she had noticed he was loosing
his colour), she then went to get help, there where about 4 doctors
around his bed all I could do was cry and ask is he going to be ok.

He was then taken to I.C.U
I went to see him, when I got there he was laid on his tummy with a
tube in his nose (NG tube) they told me he was floppy which was
because he was born quickly, they also said he should be ok in 24
hours at 1 day old Regan went into special care (SCBU) where he
stayed until day 3, he was then taken back to I.C.U, I was also told
at this point that he had been but on a ventilator, when I got there
he was on CPAP he was on that for another day, they took him off
when he went for his MIR scan, when he came back to my surprise he
was taken to special care again where all the nurses and I could do
was care for him, I tried to breast feed him but due to him not
being able to suck he couldn't latch on, we tried the bottle every
time he drank from the bottle his sats would drop and he would need
oxygen, then they had to give him the rest of the feed through the
NG tube,
  I thought he would never drink from a bottle but he did within a
week and half he was away drinking slowly but he managed it, I went
to see him one day and nurse showed me a first aid video, I then
knew he was due to come home, I was so pleased when he came home
aged 18 days.

He was doing fine at home up until the age of 8 weeks when he had an
attack of bronchiolitis, I took him to the doctors, all they gave
him was nose drops, 4 hours later he ended up in hospital his skin
was nearly grey, his nostrils were flaring, he was very ill, he
ended up on a vent, NG tube and drip as he was so dehydrated, all I
could do was ask the doctors about his chances, all they said its
too early to tell it depends how he reacts to the antibiotics.

He was put on children's I.C.U it was a very scary time for me as I
had never seen him like that before, the vent was doing most of the
work for him, as the days passed I noticed he was awake more and
breathing a lot better, he was on the vent for 4 days then he was
put on a ward where again he was struggling with his bottle, he had
thickener in his feeds so he could keep them down, on day 8 I took
him home again only to be faced with the illness again a week later
(Christmas eve)he was taken to casualty again, there they checked
him over and said I could care for him at home, I was pleased but
scared at the same time, I was glad to have him home for xmas, I had
to feed him 1oz every hour which was very tiring but it helped him
he soon got back to his normally jolly self.

As the months passed I was so frustrated as he was ill every month
with one thing or another mainly chest infections, but still no
answers as to why this was.

As he hit 1 year old the illnesses seemed to lessen, Regan has had
physiotherapy, occupational therapy and speech therapy, he seemed to
come on well after the age of one as before with his illnesses he
was right back to square one again and had to reduce all the things
we did with him.

He crawled at the 13 months, it was commando style for a while I was
shocked as I got told he'd never do all the things he was doing, he
took his first steps at 18 months.

He's 2 years and 8 months old now, he cannot talk he tries to
communicate with me by pointing at the things he wants.

He is a little unsteady on his feet, he keeps falling over and
hasn't got the reflexes to catch him self when he falls he falls
flat on his face and knees ouch!!!

He's such a happy little boy always smiling he's the light of my
life, it makes my day just to see him smile.

I have uploaded some photos of Regan and Marconi for you to have a
look at.

Thank you for reading our story Rachel & Moz