About Myotubular Myopathy, Myotubular Myopathy Trust

Zak is 12 years old and is more mildly affected by x-linked Myotubular Myopathy.
He is bright and funny and really enjoys hydrotherapy because in water he can feel what
it is really like to hop, run, jump and move freely. Zak is lucky, he is one of the 1% who
has made it to 10 years old, even though before the age of 3 years he had 7 episodes of
lung collapse and pneumonia.

Jeno is a 5 year old boy with Myotubular Myopathy. Most of the times he is a very happy boy, but sometimes, when he realises he is different from his older brother and friends, he feels sad about his weak muscles. Jeno likes to join in with games played by his friends, but sometimes they laugh when
he runs as hard as he can but falls and can't get up without help. And, sometimes, when Jeno coughs
in the morning it worries him as he thinks he is going to get pneumonia again and
have to stay in hospital.

There are three genetically distinct forms of Myotubular Myopathy.

The commonest is x-linked, affecting only boys, and also the most severe. It usually presents in the newborn period and there is associated breathing and swallowing difficulties in addition to the general muscle weakness. The other forms are either dominant or recessive in inheritance, are usually milder and vary widely.

Our logo represents the muscle cell of someone with Myotubular Myopathy. In normal muscle development the central nucleus will go to the outside edge of the cell and use a protein called "myotubularin" to become strong and healthy. In the baby with Myotubular Myopathy, the "myotubularin" protein is missing which means that the muscles remain in the very weak stage of development. So as well as causing general muscle weakness, many sufferers need mechanical ventilation to stay alive and need to be fed straight into the stomach via a gastrostomy. Many are medically very fragile and need nursing care 24/7 for at least the first few years of life. Sadly, many babies are too weak and die from complications associated with the condition.

Here are only a few personal experiences of Myotubular Myopathy. If you are new to Myotubular Myopathy, and would like to find out much more detailed information, please click on the link to "the Information Point for Centronuclear and Myotubular Myopathy".
This is a comprehensive UK information site where you can find many other links to UK and global resources for Myotubular Myopathy and Centronuclear Myopathy!

This is Joshua. Myotubular Myopathy means that his movements are slow and deliberate, although
he has excellent fine motor skills! He is unable to walk or even bear his weight and his tendons have tightened so much at the back of his ankle, even something as simple as straightening his leg needs working at. Joshua is 24 hour ventilated with breathing support, which he initiates all by himself. His biggest problem though is lack of strength in his cough and his inability to clear his secretions so he needs regular chest physio to keep his airways clear. Like most children with myotubular myopathy, Joshua is gastrostomy fed due to his weak swallow.

Our son Archie McInerney was born on the 26th August 2005 at 5.20pm at Kings College Hospital, London. Sadly he left us on the 4th February 2006: his heart was tired with all the extra work and sadly slowed down and stopped. Throughout Archie's journey he has shown us inner strength when physically he was unable; the light that shone in his eyes as he looked at us inquisitively and the
smile that warmed hearts of all who met him.

Toni and her dad Mike have the dominant form of Myotubular Myopathy. This means that only one copy of the genetic error is needed to cause the condition and one good copy cannot compensate.
Their symptoms include difficulty with stairs, lifting and carrying and opening bottle tops, things that most people take for granted. And they both have a tendency to fall.A long-term prognosis is unknown, both have experienced progression since their diagnosis so attend for physiotherapy and hydrotherapy sessions in order to maintain what movement and flexibility they already have.

This is Tom,he's 3 years old and loves his life: his cars; his trains and his sister.
He has the milder form of Myotubular Myopathy and is one of the few lucky ones who survived
his first year. However, he still can't walk or even crawl and probably the toughest thing for
Tom is that during every single day just breathing is difficult. Even a common cold could be fatal. But he manages to come out of every crisis with a smile and a double thumbs up!

This is our son Adam, aged 15. Adam has x-linked Myotubular Myopathy and is fully mobile. We feel extremely lucky that Adam appears to be only very mildly affected and is quite independent. Adam does have problems running, swimming and riding his bike, but that does not stop him from enjoying them. Adam is very resiliant and always finds a way of joining in and achieving what he wants: he refuses to give up and makes the best of his free time. Adam spends a lot of time fishing and playing on his playstation. He is in mainstream school and doing brilliantly well with support.

Our boys were born with Myotubular Myopathy and the years that followed were extremely difficult

financially, physically and most of all, emotionally. In 2004 our eldest son Trent developed chronic respiratory distress, spending 6 weeks in ICU. The doctors said he wouldn't come home, but he proved them wrong, and made it home. A week later, after spending a beautiful week together, his little body gave up and he passed away aged 5. We miss him so much and in particular his little brother Zac who is now 6 years old has not only to deal with such a huge loss, but also look at his own mortality.

Reece was born on 12 May 2006 and when he was delivered he couldn't breathe. After struggling on and off ventilation for the next 3 weeks, the doctors decided to give him a tracheostomy to help his breathing and speed his recovery. We were hoping to nurse him at home, but then Reece had several trips back into intensive care, following several cardiac arrests. Thankfully, he's not been back in ICU since. We were given a diagnosis in February 2007 which came as a shock, although we knew there was something wrong because he's never been home from hospital. But he's now doing much better: clapping his hands, blowing us kisses, and even managing to babble past his tracheostomy!

My son Daniel was born on 2nd February 2006 at University Hospital North Durham. At birth, he could not breathe by himself and was very floppy. But with great thanks to the dedicated doctors and SCBU nurses they managed to keep him alive. He was ventilated for 21 days and then put onto cpap. We came home after 4 months. Daniel is still NG tube fed and still requires suction to keep his airways clear of secretions, but luckily, only requires a few hours a night on cpap. Daniel is the light of my life and a little fighter, after a very bumpy start. He is so happy and smiles all the time, claps his hands, blows kisses and has even started to hold his own head.

Markus was born 25 June 2002 with severe breathing problems. He needed to be ventilated with 100 % oxygen. When we got the diagnosis, the Norwegian doctors said that he probably would not survive very long, which was very hard to accept, especially after seeing his beautiful smile .... as long he got help to breathe. I had to fight for him with all my strength: and we got the treatment he needed in London where he was trached and had a mic-key. Markus is soon going to be 6 yr s old! He’s a very clever, charming and a happy boy, in spite of needing a wheelchair and help to suction the secretions away. I worry every time he gets a cold or a little sick, but we do what we have to do - enjoying life.

Our son Maddux was born February 4th 2005 in Denver, Colorado. We went into the hospital, expecting to bring home a healthy baby boy, and were baffled when he wasn't able to breathe or move on his own. We removed him from life support on February 10th 2005. Four months after his death, and autopsy, only then were the doctors able to tell us about his condition. Myotubular Myopathy (MTM1). Please help find a cure for Myotubular Myopathy, so no other parent has to experience the pain and heartache from the death of their precious child with this condition.

"I....want....flowers", he signs, while we are on our way home from the hospital.
He presses his small fingers to his nose,
Wrist red and swollen from the three blood tests,
And pretends to smell imaginary Buttercups.
He inhales them tiredly,
Drained from the bloodletting,
The tourniquet,
The second stick of the needle after the collapse of the first vein.
At the hospital my mother and I watched helplessly.
It is a chore to extract his blood.
It turns and twists within small tunnels.
The needle searches as if for a rare nectar.
As if he were a flower and the syringe the tongue of a butterfly.
That would be fine.
Except this one stings as it drinks him.
He sat still as they pricked his hands.
I remembered how he looked up at my mother,
Face turned to a frown, a wince, and then the quiet gasp
As they pull out the stopper
Slowly bleeding him into the plastic vial.
Now exhausted, he sits in his wheelchair, strapped to the van his grandmother drives.
He asks her for flowers....
And my mother stops.
Stops as if the world depended upon it.
Stops as if it would somehow save his life.
She pulls over to the side of the road,
And in her dress
Bends down properly...only because it is proper to
bend while picking flowers...
And hands him three Blacked-eyed Susans.
And I saw for the first time that day,
His face opening up towards my mother...
As if she were the sun, and he a Lily of the Valley.

"I...Want...Flowers"

This poem was written by
Jonah's mother, Jennifer Darr,
for Jonah's Grandmother.

Jonah was born on 9 November 1998 and has myotubular myopathy.

Read other poems by Jennifer