-----Original Message-----
From: Scott Fontana [mailto:masonsparents@...]
Sent: 31 August 2004 08:43 PM
To: Myotubular_Myopathy@yahoogroups.com
Subject: [Myotubular_Myopathy] Updated on Mason

Thank you for all of your words of concern. We have made in through the two week mark in which the neurologist advised us that if any further seizures were to occur, they would likely happen again. Mason was back to his same old self, we went to our pediatrician for a follow up and it was noted that Mason was due for a hepatitis shot. Two days later, Mason needed to go on an increased ventilator support and increased O2. He has gotten gradually better over the past few days and it is anticipated he will make a full recovery. The doctors believe his body is just whooped. Mason takes a long time to recover. When he had surgery in the past for ear tubes, tonsils, laser work on his stoma and vocal cords, it took us months to get him to the point where he could sit unassisted again. The doctors felt this is due to the general anesthesia and stated they often see this type of reaction in kids with neuromuscular disorder. Overall though, Mason seems to be getting better.

connie guinn <kookla_g@...> wrote:

Scott and Staceyann,

I'm sorry to hear that about Mason- that must have been so scary.  Is he doing ok now?  Has he had any more seizures?   I haven't heard of seizures being related to xmtm before.  Perhaps this was an isolated incidence?  Let's hope so!  My husband had an unexplained, isolated incident of seizing one time (about 7 or 8 years ago), and he has never had it happen again.  Anyway, let us know how things are going.  Godspeed.

-Connie

masonsparents <masonsparents@...> wrote:

Hello all,
Last Sunday morning at about 6:45 AM, my wife and I were awakened by
our nurse calling that Mason was in trouble. She stated he had been
sleeping when the apnea alarm went off on the vent. When he sleeps he
is only on C-Pap, sometimes the apnea alarm goes off if he has a
plug. She went to suction and got nothing, she hooked him back to the
vent and the apnea alarm went off again. She states Mason turned
black, but the pulse-ox only hit 84 on the sats, she bagged him and
he began respirations on his own. His color and sats were good, his
heart rate was high. His eyes were wide open, his pupils were
dilated, he body went into tremors, he was unresponsive. We called
911, he was taken by ambulance to our local hospital, they were able
to get the seizure to stop with medication, after 45 minutes. A CAT
scan showed no brain abnormalities. He was flown to San Francisco,
where our specialists are. While there he had an EEG, and spinal tap
which were normal. The neurologist planned to do an MRI, but in light
of the normal EEG adn CAT scan, he decided not to. Mason did not
really wake up until Monday at 10:00AM. The MD's believe the seizure
came first and caused the respiratory issues. Masons entire chest
wall seized. It was so scary. To see him now, you wouldn't know that
anything had happened - he is as happy as can be.  It is not believed
that he sustained any brain damage. The neurologist stated sometimes
kids just have seizures with no explanation. He said the seizure is
not related to Mason's diagnosis of X-Linked Myotubular Myopathy. We
were prepared for respiratory and neuromuscular issues, but never
seizures. The neurologist states if seizures are going to happen
again, they may occur in the next 2 weeks. We are watching him like a
hawk. Is anyone aware of seizures being associated with x-linked MTM?
I've never found anything about it.

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MY FIANCE DANIEL HAS MYOTUBULAR MYOPATHY. I HAVE SEEN THAT SOME OF YOU
HAVE SPOKEN TO HIM (NICE GUY ISNT HE?) I HAVE KNOWN DANIEL FOR 6
YEARS. HE WAS DIAGNOSED 4 YEARS AGO. IT HAS BEEN A LONG HARD ROAD, AS
ALL RELATIONSHIPS ARE. . . BUT MORESO BECAUSE I HAVE HAD TO SEE THE
LOVE OF MY LIFE SUFFER. HE SPENDS HIS FREE TIME SCOURING THE INTERNET
FOR POSSIBLE TREATMENTS, AND HAS GONE SO FAR AS TO ADD HIS NAME TO A
LIST OF WILLING PARTICIPANTS FOR A DRUG-STUDY TREATMENT IN BOSTON, TO
FIND A CURE/TREATMENT. IT GETS FRUSTRATING AT TIMES, BECAUSE I KNOW
THAT THE LIKELYHOOD OF SOMETHING WORKING IS SLIM TO NONE. BUT I STAND
BY HIM THROUGHOUT ALL OF HIS EXPERIMENTS. THE LAST ONE DROVE ME NUTS-
UPPED HIS TESTOSTERONE LEVEL SO HIGH. . . HE WAS A JERK FOR A MONTH, I
ALMOST THREW HIM OUT. BUT HE WISED UP AND STOPPED THE PILLS. NOW HE IS
LOOKING FOR THE NEXT POSSIBLE TREATMENT. . . AND I WILL STAND BY HIM
NO MATTER WHAT. EVEN IF I WANT TO STRANGLE HIM. GUESS STUBBORNESS IS A
GOOD THING WHEN IT COMES TO A DIBILITATING DISEASE......RIGHT??? IF
ANYONE WANTS TO CHAT, I AM A STAY AT HOME MOM, ONLINE MOST OF THE DAY.
YAHOO MESSENGER ID: JULIET0068000 AIM ID: GIRLX0240 HOPE TO TALK TO
YOU SOON!

I AM SORRY FOR YOUR LOSS. IF YOU WOULD ALLOW ME TO, I WOULD LIKE TO
PRAY FOR HIM, AND FOR YOU.


--- In Myotubular_Myopathy@yahoogroups.com, "Alistair Wright"
<alistair.wright@s...> wrote:
> Sorry, just found the addy for the group. We will post more detail
> later. Matthew is at peace.
>
> -----Original Message-----
> From: Alistair Wright [mailto:alistair.wright@t...]
> Sent: 27 August 2004 09:46 AM
> To: 'Jessica Juckers'
> Subject: Matthew has passed on.
>
> Hi Jess,
>
> Just wanted to let you know that Matthew passed away this morning. I
am
> at home and don't have the addy for our group, so if you could let
them
> know. It was sudden and unexpected. He wasn't sick and we think his
> heart just stopped.
>
> He was singing and playing last night and was in top form. What a
way to
> go. So glad it wasn't in the hospital with pneumonia or in pain.
>
> Thanks for all your support.
>
> Janice and Alistair.

Alistair & Janice,  All I can say is THANK YOU for allowing all of
us to be a part of Matthew's short, but incredible life.  You two
made sure every day was special for him and I think, at least for
me, that it is such an inspiration for us to do the same for our
boys.  I just cried streaming tears reading what Alistair wrote.  It
is just so amazing how wonderfully healthy he had been these past
few months.  And you so right when you say that it was because of
him being so active with the family.  I am so thankful that Matthew
was able to have those great times, as I am sure you are, and that
he didn't die on a hospital table with iv's and machines hooked to
him (as if the vent wasn't enough).  But he was happy and he died
peacefully, probably dreaming of how much he loved his family and
what a happy boy he was.

This is such a wake-up call for me in so many ways.  One being that
in the past few months Jacob's sleeping HR has been 10-20 bpm higher
than usual.  So, tomorrow he has an appointment with his
pediatrician and I am going to insist on an echocardiogram and an
EKG.  Jacob did have an enlarged heart when he was about 11 months
old, but it resolved on its own.

I am thinking of you both every day.  Please come here to vent or
cry or just to talk.  We love you very much and you will always be a
part of our family.

Love, Amanda


--- In Myotubular_Myopathy@yahoogroups.com, "Wright, Alistair \(A\)"
<alistair.wright@s...> wrote:
> Sorry for just sending such a short message about Matthew passing
away
> and then going silent, the last few days have just been so hectic.
>
> Thanks to everyone who posted messages of support, you can't
believe how
> much they helped. Due to the time zone differences we would get a
new
> message every so often when we really needed it.
>
> It came as a huge shock to us. Despite it being winter here and
everyone
> else in the house coughing and spluttering Matthew was in
incredible
> health over the last few months. A turning point for him was when
we
> started taking him to visit people more often. The day we went to
his
> cousin Jade's birthday party (she was exactly 3 days older than
him) we
> left our house with his vent using 8 liters/min oxygen and when we
got
> back he was only needing 3 and it subsequently came down do 1/4
> liter/min. He became an active part of our lives and the more we
took
> him out the better his health became. Thinking about it, it is
obvious
> lying in a bed all day staring at the roof is not very stimulating
and
> for him he was now suddenly being bombarded by stimulation we all
take
> for granted - every trip was a huge adventure. At the same time his
> verbal skills also blossomed, he started singing nursery rhymes,
rock
> songs, could count to 60 and recite the days of the weeks, months
and
> even tell various people to shut-up. At last he and Nicholas (our
other
> son) started playing/fighting with each other. Everything was
starting
> to come right.
>
> This last week was incredible, on Monday we took him for a walk
around
> the neighborhood. Normally Matthew really battles with the
sunlight, but
> on that day he took his glasses of and looked at the Birds and
Dogs.
> That night I lay next to him on the bed for about an hour and he
was
> just stroking my arm. On Tuesday I bought this 1 meter long
polystyrene
> glider and in his room we were throwing it back on forth. We were
not so
> good and there were a lot of near misses which resulted in us
nearly
> breaking the lights and a lot of laughter. Later that night Jan
sat on
> the bed cuddling him while she watched her favorite TV program
(CSI).
> Over the weekend we had moved his room around so that he could
have a
> good view out the window. On Wednesday we had a mighty storm, the
first
> rains of spring, he loved it. On Thursday my parents who live
quite far
> away cam and visited. My mom could not believe her ears when for
the
> first time she could clearly hear what he was saying. We had such a
> great visit with him. Nicholas and him were fighting over a toy.
> Nicholas being stronger was being a bit of a bully and so we told
him to
> play nicely. He climbed over Matthew and gave him a big kiss on the
> forehead. When Nicholas was taken to bed we said "Good night
Nicky" and
> Matthew said "Sleep tight". Just before we went out for dinner
with my
> parents I held him tight, looked him in the eyes and told him I
loved
> him with all my heart and kissed him on the lips. He has only just
> learnt to kiss back and it was wonderful. We found out from his
nurse
> that he just sang himself to sleep after we left. On returning
home he
> was sleeping so peacefully, but Jan still popped into his room and
gave
> him a kiss.
>
> At 4:30am our panic button siren went off. On rushing to Matthew's
room
> we say his nurse frantically trying to bag him. At the time we just
> thought he was desatting. We bagged and his sats rose to 84%. The
> paramedics arrived and informed us that he was actually dead, and
that
> the pulse reading from the pulse oximeter was the result of the
bagging.
> I insisted they try restart his heart with a defib machine and
continue
> CPR until my neighbor who was is Dr arrived. It was all in vain and
> Matthew was declared dead at 5am. My first thought when I finally
> accepted the news was "At least my little boy will not have to
fight any
> more. Later it was Amanda's words "A little boy whose legs and
lungs
> didn't work on Earth is now running and playing as he should."
which
> settled in my mind. According to the Nurse he was sleeping
peacefully,
> everything normal and then he let out a little sigh and shortly
after
> that the machines started to alarm. It would appear he had a heart
> attack, or his heart just stopped or something. We did know that
he had
> an enlarged heart and looking back at the log sheets could see the
pulse
> was about 15-20 higher while he was sleeping than usual.
>
> We always new that the chances are we would out live him. I just
always
> thought he would make it to 12 or 13 at least. Also we always
thought it
> would be his lungs with their pseudomonas that would let him down
and
> that he would be in the PICU and with course after course of
intravenous
> antibiotics etc or something would go really wrong at home with the
> equipment, or something. We were not prepared for this sudden
death.
> Saying that however, if it had to happen we could not have asked
for a
> better way, peacefully in his sleep.
>
> I am sorry that I am rambling and being sentimental, but you are
the
> only guys who really truly understand. All the people who with the
best
> intentions tell us its for the best as he had a hard life don't
know
> Matthew; they don't know this little guy who loved life and lived
each
> day to the full. For him everyday was Saturday. We also never
tried to
> put him in a routine, he could stay awake as late as he wanted,
sleep as
> late as he wanted, in fact live life as he wanted.
>
> We had his service yesterday. We could not bear to have a little
coffin
> in front of the church and so we decided to go for memorial
service. We
> could not believe it, there were over 200 people present, for a
little 3
> yr old. I doubt I will get that many when my time comes. To give
people
> something positive to remember him by, during the service we
played a
> loud rock song (his favorite), and showed a slide show of photo's
of
> him. I could not believe just how many photo's I had of him and in
all
> of them he was smiling. It gives me so much comfort to know that
he was
> loved so much, by so many and was so happy. I am also in a little
way
> relieved he never had to sit at a window in his chair and watch
other
> children playing soccer, although knowing him it would not have
> mattered.
>
> Thanks again for all the support, advice and love you have given
to Jan
> and me over the last year since we joined the group, we will
definitely
> stay members to watch our "other" sons grow and flourish. I hope
you all
> take from our experience to love your boys with all your hearts,
live
> life to the most, and don't put things off until tomorrow, because
one
> day tomorrow might not come. Especially to all the silent fathers
of our
> special boys. I know it is difficult to show emotion and be silly
with
> your kids in front of strangers (nurses) but you must. It is easy
to sit
> on the sidelines and not be so involved, but you must. And most
> important please have big dreams for your boys, they do and they
will
> surprise you.
>
> Alistair
>
>
>
>
> -------------------------------------------------------------------
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> is subject to the standard Sasol eMail disclaimer which may be
found at:
>
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>
> If you cannot access the disclaimer through the URL attached and
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> to receive a copy thereof please send an eMail to
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------

Dear Alistar and Janice,

Thank you so much for your letter. You have both been in my mind
every day. I still cannot believe the events of this past week. I
know that you must still be in shock. When I read Alistar's letter,
it warmed my heart how much Matthew had blossomed in the last few
months. I am so glad that you were all able to have such wonderful
times with him and that he was able to experience such wonderful
things. I am not surprised by the many people that were at matthew's
service. I know that we were all there in spirit. Alistar, your
letter was beautiful and I sit here with tears streaming. Sometimes,
I think that this hits too close to home for all of us. Like Amanda,
this has been a wake-up call for me. I am taking Javad to the
cardiologist to make sure that everything is in order. I hope you
know that we all care about your entire familiy very much. We are
always here, wanting to hear about your running, Nicky's growth and
antics. Matthew will forever be missed and in our hearts.

Much love,
Shannon

From: Wright, Alistair (A)

To: Myotubular_Myopathy@yahoogroups.com

Sent: Wednesday, September 01, 2004 9:12 AM

Subject: [Myotubular_Myopathy] Hi Everyone

Sorry for just sending such a short message about Matthew passing away and then going silent, the last few days have just been so hectic.

 

Thanks to everyone who posted messages of support, you can't believe how much they helped. Due to the time zone differences we would get a new message every so often when we really needed it.

 

It came as a huge shock to us. Despite it being winter here and everyone else in the house coughing and spluttering Matthew was in incredible health over the last few months. A turning point for him was when we started taking him to visit people more often. The day we went to his cousin Jade's birthday party (she was exactly 3 days older than him) we left our house with his vent using 8 liters/min oxygen and when we got back he was only needing 3 and it subsequently came down do 1/4 liter/min. He became an active part of our lives and the more we took him out the better his health became. Thinking about it, it is obvious lying in a bed all day staring at the roof is not very stimulating and for him he was now suddenly being bombarded by stimulation we all take for granted - every trip was a huge adventure. At the same time his verbal skills also blossomed, he started singing nursery rhymes, rock songs, could count to 60 and recite the days of the weeks, months and even tell various people to shut-up. At last he and Nicholas (our other son) started playing/fighting with each other. Everything was starting to come right.

 

This last week was incredible, on Monday we took him for a walk around the neighborhood. Normally Matthew really battles with the sunlight, but on that day he took his glasses of and looked at the Birds and Dogs. That night I lay next to him on the bed for about an hour and he was just stroking my arm. On Tuesday I bought this 1 meter long polystyrene glider and in his room we were throwing it back on forth. We were not so good and there were a lot of near misses which resulted in us nearly breaking the lights and a lot of laughter. Later that night Jan sat on the bed cuddling him while she watched her favorite TV program (CSI). Over the weekend we had moved his room around so that he could have a good view out the window. On Wednesday we had a mighty storm, the first rains of spring, he loved it. On Thursday my parents who live quite far away cam and visited. My mom could not believe her ears when for the first time she could clearly hear what he was saying. We had such a great visit with him. Nicholas and him were fighting over a toy. Nicholas being stronger was being a bit of a bully and so we told him to play nicely. He climbed over Matthew and gave him a big kiss on the forehead. When Nicholas was taken to bed we said "Good night Nicky" and Matthew said "Sleep tight". Just before we went out for dinner with my parents I held him tight, looked him in the eyes and told him I loved him with all my heart and kissed him on the lips. He has only just learnt to kiss back and it was wonderful. We found out from his nurse that he just sang himself to sleep after we left. On returning home he was sleeping so peacefully, but Jan still popped into his room and gave him a kiss.

 

At 4:30am our panic button siren went off. On rushing to Matthew's room we say his nurse frantically trying to bag him. At the time we just thought he was desatting. We bagged and his sats rose to 84%. The paramedics arrived and informed us that he was actually dead, and that the pulse reading from the pulse oximeter was the result of the bagging. I insisted they try restart his heart with a defib machine and continue CPR until my neighbor who was is Dr arrived. It was all in vain and Matthew was declared dead at 5am. My first thought when I finally accepted the news was "At least my little boy will not have to fight any more. Later it was Amanda's words "A little boy whose legs and lungs didn't work on Earth is now running and playing as he should." which settled in my mind. According to the Nurse he was sleeping peacefully, everything normal and then he let out a little sigh and shortly after that the machines started to alarm. It would appear he had a heart attack, or his heart just stopped or something. We did know that he had an enlarged heart and looking back at the log sheets could see the pulse was about 15-20 higher while he was sleeping than usual.

 

We always new that the chances are we would out live him. I just always thought he would make it to 12 or 13 at least. Also we always thought it would be his lungs with their pseudomonas that would let him down and that he would be in the PICU and with course after course of intravenous antibiotics etc or something would go really wrong at home with the equipment, or something. We were not prepared for this sudden death. Saying that however, if it had to happen we could not have asked for a better way, peacefully in his sleep.

 

I am sorry that I am rambling and being sentimental, but you are the only guys who really truly understand. All the people who with the best intentions tell us its for the best as he had a hard life don't know Matthew; they don't know this little guy who loved life and lived each day to the full. For him everyday was Saturday. We also never tried to put him in a routine, he could stay awake as late as he wanted, sleep as late as he wanted, in fact live life as he wanted.

 

We had his service yesterday. We could not bear to have a little coffin in front of the church and so we decided to go for memorial service. We could not believe it, there were over 200 people present, for a little 3 yr old. I doubt I will get that many when my time comes. To give people something positive to remember him by, during the service we played a loud rock song (his favorite), and showed a slide show of photo's of him. I could not believe just how many photo's I had of him and in all of them he was smiling. It gives me so much comfort to know that he was loved so much, by so many and was so happy. I am also in a little way relieved he never had to sit at a window in his chair and watch other children playing soccer, although knowing him it would not have mattered.

 

Thanks again for all the support, advice and love you have given to Jan and me over the last year since we joined the group, we will definitely stay members to watch our "other" sons grow and flourish. I hope you all take from our experience to love your boys with all your hearts, live life to the most, and don't put things off until tomorrow, because one day tomorrow might not come. Especially to all the silent fathers of our special boys. I know it is difficult to show emotion and be silly with your kids in front of strangers (nurses) but you must. It is easy to sit on the sidelines and not be so involved, but you must. And most important please have big dreams for your boys, they do and they will surprise you.

 

Alistair

 

 

 

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Hi All,

For those of you who don't know, Matthew died in his sleep in the early hours of Friday (27th August) morning.  I have decided to copy our eulogy to him as his last page update.

I have put some of my favourite pictures on the photos page.

Alistair and I would like to thank you all for your love and support over the last few years.

The address for his page is :

http://www2.caringbridge.org/africa/matthew

Thanks

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Hi All,

For those of you who don't know, Matthew died in his sleep in the early hours of Friday (27th August) morning.  I have decided to copy our eulogy to him as his last page update.

I have put some of my favourite pictures on the photos page.

Alistair and I would like to thank you all for your love and support over the last few years.

The address for his page is :

http://www2.caringbridge.org/africa/matthew

Thanks

 

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Thank you for sharing Matthew with me this last year. Although far
more affected than Javad, he gave me hope that Javad may someday
speak. What I would give to hear him say "shake that ass!" Alistar's
letter gave me visions of my own husband laying with Javad at night,
face to face, Javad's hand on David's face. It is so odd...every
night this week I have shed tears for a boy and a family that I have
fallen in love with and feel are my friends. These are people I have
never seen, talked to, hugged, but yet I feel that we know each
other so deeply. Nothing with fill the hole that Matthew left, but
yet no one will ever forget him. I had a dream the other
night..Matthew and Javad were playing in this field (since we live
so far apart, I have no idea where they were!) They were running
through the field, laughing and holding hands. Big smiles on their
faces as they laughed. I woke up, my face wet with tears. I can
never know how you feel, but please know I have shared in your loss
and join you in celebration of the wonder of Matthew's life.

Shannon

OR A FAMILY MEMBER WHO HAS IT?

MY FIANCE HAS IT. ITS HARD TO DEAL WITH HIS DEPRESSION OVER IT - ANY
SUGGESTIONS? HE GETS MOODY AND I NEVER KNOW HOW TO REACT. PART OF THE
TIME I ACT LIKE NOTHING IS WRONG. THE OTHER PART OF THE TIME....OK. I
ALWAYS ACT LIKE NOTHING IS WRONG. LIKE ITS NO BIG DEAL, EVEN THOUGH IT
IS. I KNOW SOMEDAY HE WILL BE IN A WHEELCHAIR, AND I KNOW THE THOUGHT
UPSETS HIM.I DONT KNOW HOW TO FEEL ABOUT IT. ABOUT ANY OF IT. OR HOW
TO ACT ABOUT IT. ANYBODY OUT THERE HAVE ANY SUGGESTIONS? OR ANYBODY
WANT TO TALK? MY YAHOO MESSENGER ID IS juliet0068000. come talk to me
please?

Hello!

 

I want you all to know that I'm reading all your mails with big interest.

I dont write myself, because my english is very bad. But I am able to understand most of what I'm redaing.

 

I have a nearly 15 years old healthy son, and Remi who is elleven months old with x-linked mtm.

I am pregnant with a boy. He is going to be born 30.12.

 

Remi is still in hospital. We had him home a month during the days, but he had to stay in hospital at nights because the nurses who is gonna come home to us at nights are not finish trainig yet.

 

I hope you understand what I mean, I dont always find the right words.

 

We live in Norway.

 

 

Lill Tove

 

 

 

My father and I were diagnosed with Centronuclear Myopathy in January 1999. At this time, over a period of ten years I had seen three doctors but had received no definite diagnosis. I recognised at 18, that when standing, my posture was bad and saw my first specialist in the belief that I had problems with my back. The specialist wanted to cut both my ankles open and lengthen the heel cords, a procedure that I believe is called Tendo Achilles surgery. The thought of having both legs in plaster for at least six weeks scared me immensely and I decided to get a second opinion.

Although I wasn’t diagnosed until I was 28, I did seem to show a lot of symptoms, that now, in hindsight were probably signs, it is just that no one was looking for them. As a child I had very bad asthma which put me in hospital a lot. I was somewhere between 18 months and 2 years before I learnt to walk, my mum says I used to go everywhere on my bottom. The doctors thought I had one leg longer than the other and there was talk of me having a calliper but that never happened. I have always had problems with walking long distances, I am quite flat footed and tend to fall over my own feet if I am not careful. I never enjoyed sport, doing everything I could to get out of it. In addition, I have a very weak voice which others often find difficult to hear and which I find very frustrating as I do not feel it truly represents who I am. I was recently told by a tutor that my writing had a strong academic voice - I was overjoyed.

Around 1993 I had some electrical tests at the Walton Centre in Liverpool, I was told I had a mild muscle abnormality. Shortly after this time, dad began to experience his own problems. Around 1998 he had a muscle biopsy which proved inconclusive. Recognising that Dad and I had similar symptoms I too pushed for a muscle biopsy. I was told it was unlikely to provide any information, however as a result of my biopsy, dad and I were subsequently both diagnosed with the autosomnal dominant inheritance form of the condition.

Dad and I share symptoms in that we do not walk comfortably and stairs can be hard going for us. My grip is very bad, particularly in my right hand and I am right handed too. I am constantly buying things in the supermarket and then realising when I get them home they are Toni proof. Neither dad or I can get up from a sitting position to standing without using our knees. Also I am unable to stand up straight with my heels flat on the floor. It seems I have compensated for this without even knowing it, as I always stand with one foot flat and one foot slightly bent and then I look quite ordinary. At my initial assessment with my physio she said that I disguise my condition very well.

Dad didn't begin to show symptoms until maybe 10 years ago, so had a normal life up until that point. Now he walks with a stick and he too has a tendency to fall. Stairs are even more hard work for him than they are for me. Dad worked throughout his life up until 31st December 1999 when he retired because of ill health.

I saw a physiotherapist and an occupational therapist at the hospital for a short while. The occupational therapist advised me I have muscle wasting in my hands. She gave me a splint for my right hand which I was advised to wear over night because of shrinkage in my tendons and wrist. I found it uncomfortable and later it was decided that as the problem had no got any worse, it was not necessary for me to wear it.

Dad and I attend the Walton Centre in Liverpool once a year for a check up and DNA testing has been done on our whole family but we have yet to receive the results.

When I first received my diagnosis, I felt a lot like I had been handed a time bomb which may or may not explode at any minute. After seeing three doctors over ten years, I now had a diagnosis but I really knew very little else. It seemed that the illness was likely to be progressive but at what speed no one seemed certain. The one certain thing amongst all the vagueness was that were I to have children, there was a 50% chance that my children too would have this illness. At first I found that very hard to accept. It put the responsibility squarely on my shoulders for another human life.

I recently finished reading ‘Lucky Man’ the memoir of Michael J Fox in which he discusses with great honesty his fight with Parkinsons disease. One paragraph towards the end of the book really hit home with me.

'As I well understood if you're a Young Onset Parkinson's patient, worried that being open about your diagnosis will hurt or even destroy your career, it’s all too tempting to get caught up in an elaborate web of obfuscation. In an insidious way, the disease itself is your accomplice in this deception - and who’d be looking for them in a forty year old anyway? To all outward appearances, you seem fine and you carry on with your life. But you’re not fine and you’re getting worse and so you wait as long as you can to tell anyone, adding the terrible burden of secrecy to the already considerable weight of your disease’.

At first I didn’t want anyone to know either, scared of how they would react. I didn’t want to lose my independence or have people feel sorry for me. I am still very careful about those I tell. In general the earlier the onset, the more severe the disorder is but at 32 years of age no one is looking for me to be ill either and it seems easier to keep it from people who may not understand as long as possible but at the same time I wish I could have it all out in the open with everyone.

Strangely though, getting a diagnosis has actually been really good for me because now I know there is a reason behind why I have struggled with so much throughout my life and so I don't beat myself up so badly. I have been able to make changes to my lifestyle and plans for my future and putting together this website has been enlightening and therapeutic.

Dad now attends the Neuromuscular Centre at Winsford almost every week, where he has physiotherapy and hydrotherapy treatment in their heated pool. The use of the pool means he is able to exercise more strenuously than he would otherwise. Since finding a new job with flexible working hours, I have now started to attend also, although less frequently. The centre currently offers a unique opportunity for sufferers of Muscular Dystropy and associated conditions, although it is hoped that in time these centres will become countrywide.

Although I have concentrated on the symptoms of our condition and the things we can't do, we actually lead very normal lives. For all the things we can't do, maybe lifting a heavy box or opening a jar or bottle for instance, there is usually an alternative way to do something. This may mean that it takes us longer to do something but not that we are incapable of doing it all together and I like to think that this makes us special not different.

From: Jacqueline

To: Myotubular_Myopathy@yahoogroups.com

Sent: Tuesday, September 07, 2004 5:49 AM

Subject: [Myotubular_Myopathy] ANYONE HERE AN ADULT WITH MYOTUBULAR MYOPATHY?

OR A FAMILY MEMBER WHO HAS IT?

MY FIANCE HAS IT. ITS HARD TO DEAL WITH HIS DEPRESSION OVER IT - ANY
SUGGESTIONS? HE GETS MOODY AND I NEVER KNOW HOW TO REACT. PART OF THE
TIME I ACT LIKE NOTHING IS WRONG. THE OTHER PART OF THE TIME....OK. I
ALWAYS ACT LIKE NOTHING IS WRONG. LIKE ITS NO BIG DEAL, EVEN THOUGH IT
IS. I KNOW SOMEDAY HE WILL BE IN A WHEELCHAIR, AND I KNOW THE THOUGHT
UPSETS HIM.I DONT KNOW HOW TO FEEL ABOUT IT. ABOUT ANY OF IT. OR HOW
TO ACT ABOUT IT. ANYBODY OUT THERE HAVE ANY SUGGESTIONS? OR ANYBODY
WANT TO TALK? MY YAHOO MESSENGER ID IS juliet0068000. come talk to me
please?

Hi Amanda,

Just wondering how you made out during "FRANCES".  Is everyone ok?

Heard there was alot of damage again.

Take care,

Darlene

Hello,
We have recently set up a caringbridge page for Mason. We have
uploaded some pics of him. He continues to improve. Please visit
http://www2.caringbridge.org/ca/masonryan

Thanks,
Scott, Staceyanne & Mason Fontana

Hello,
We have recently set up a caringbridge page for Mason. We have
uploaded some pics of him. He continues to improve. Please visit
http://www2.caringbridge.org/ca/masonryan

Thanks,
Scott, Staceyanne & Mason Fontana

Hi Guys, Great to finally see mason, he looks fantasic. I look forward to reading updates on your lil manny.
Do you mind if i put a link on  Jacks Page over to Masons? please let me know.
Jess
www.caringbridge.org/oceania/jack


masonsparents wrote:

Hello,
We have recently set up a caringbridge page for Mason. We have
uploaded some pics of him. He continues to improve. Please visit
http://www2.caringbridge.org/ca/masonryan

Thanks,
Scott, Staceyanne & Mason Fontana

__________________________________________________
Do You Yahoo!?
Tired of spam? Yahoo! Mail has the best spam protection around
http://mail.yahoo.com

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

From: Susekie@...

To: Myotubular_Myopathy@yahoogroups.com

Sent: Tuesday, September 07, 2004 3:03 PM

Subject: Re: [Myotubular_Myopathy] REMI

Hello Lill!

Welcome to this group! Another European, who is not English! *g* My name is Rita, I'm from Germany, so not too far away from Norway - but I'm sorry: I do not speak Norwegian! :-( I think, you - unfortunately - don't speak German?

My son Tobias - yesterday, he turned 7 :-) - is affected by MTMX. Then I have a 4 year old daughter, Marlene. And before those two, my first son, Adrian, died at birth - he also was affected by MTMX, but we found out it, when Tobias was already 18 months or so.

We live near Hanover - the EXPO-city of the year 2000. Maybe you know it?

I'm sad that Remi is still in hospital! :-( How did you manage having him home during the days? With help from nurses or alone?

We only have few nursing, no nights, never. Tobias came home when he was nearly 7 months old and we got 3 hours a day nursing! But I could not imagine how you can manage this while being pregnant! Poooh... when I think of the time, I was pregnant with Marlene...sometimes is was very hard...

Where in Norway do you live? More in the south or in the north?

Now I have to look after my little daughter.

Best wishes,
Rita

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

From: ANN MILLER

To: Myotubular_Myopathy@yahoogroups.com

Sent: Tuesday, September 07, 2004 5:37 PM

Subject: Re: [Myotubular_Myopathy] REMI

Hi Lill,

 

Welcome to the group!  This is a great place to be for information and support. 

 

My name is Darlene.  I have a 33 month old grandson (Kyle) who has MTMX.

We live in the U.S.  I am the only one who cares for him.  We have no nursing.

He has a sister who is almost 4 years old.  We will not know if she is a carrier

until she is older.

 

Congradulations on the new baby. Have you been tested to see if this baby

has MTMX?   How is Remi affected?  Can he sit, roll, etc?  Is it mild or severe?

Is he on a ventilator?  Sorry for all the questions.  If you have any questions,

don't be afraid to ask.  We are here to help each other through hard times and

good times.

 

Again,  welcome to the group! 

Take care,

 

Darlene

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

From: Lill Tove

To: Myotubular_Myopathy@yahoogroups.com

Sent: Tuesday, September 07, 2004 3:19 AM

Subject: [Myotubular_Myopathy] REMI

Hello!

 

I want you all to know that I'm reading all your mails with big interest.

I dont write myself, because my english is very bad. But I am able to understand most of what I'm redaing.

 

I have a nearly 15 years old healthy son, and Remi who is elleven months old with x-linked mtm.

I am pregnant with a boy. He is going to be born 30.12.

 

Remi is still in hospital. We had him home a month during the days, but he had to stay in hospital at nights because the nurses who is gonna come home to us at nights are not finish trainig yet.

 

I hope you understand what I mean, I dont always find the right words.

 

We live in Norway.

 

 

Lill Tove

 

 

 

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

From: TONI ABRAM

To: Myotubular_Myopathy@yahoogroups.com

Sent: Tuesday, September 07, 2004 7:30 PM

Subject: Re: [Myotubular_Myopathy] REMI

Hello Lill

 

My name is Toni - I am 33 years old and live in Chester, UK.

 

My father and I have the dominant form of this condition.

 

I think your English is really good and I could understand everything you wrote - please don't let that stop you posting messages here.

 

Welcome to the group.

 

 

Toni

Lill Tove <lilltov@...> wrote:

Hello!

 

I want you all to know that I'm reading all your mails with big interest.

I dont write myself, because my english is very bad. But I am able to understand most of what I'm redaing.

 

I have a nearly 15 years old healthy son, and Remi who is elleven months old with x-linked mtm.

I am pregnant with a boy. He is going to be born 30.12.

 

Remi is still in hospital. We had him home a month during the days, but he had to stay in hospital at nights because the nurses who is gonna come home to us at nights are not finish trainig yet.

 

I hope you understand what I mean, I dont always find the right words.

 

We live in Norway.

 

 

Lill Tove

 

 

 

Hello!

 

I want you all to know that I'm reading all your mails with big interest.

I dont write myself, because my english is very bad. But I am able to understand most of what I'm redaing.

 

I have a nearly 15 years old healthy son, and Remi who is elleven months old with x-linked mtm.

I am pregnant with a boy. He is going to be born 30.12.

 

Remi is still in hospital. We had him home a month during the days, but he had to stay in hospital at nights because the nurses who is gonna come home to us at nights are not finish trainig yet.

 

I hope you understand what I mean, I dont always find the right words.

 

We live in Norway.

 

 

Lill Tove

 

 

 

Thanks for sharing pics of Mason. What a handsome young man. I love the
red hair.
I wish one of my kids would have ended up with my red hair but they were
both blondes. Look forward to hearing more about your family.
My name is pat. I am a manifesting carrier of x-linked myotubular
myopathy. My daughter was also a manifesting carrier with xmtm. My son
29, has xmtm. He is in the process of finding out if he needs to have a
pacemaker implanted.
If you have any questions feel free to ask. take care pat

Lill, Welcome to the group. Lots of great ppl here.
My name is pat and I am 53. My daughter and I are manifesting carriers
of x-linked
myotubular myopathy. My son is 29 with xmtm. We got a firm dx in 98.
Look forward to hearing more about you and your family.
If you have any questions feel free to ask.
take care pat