Family Stories


Share your story

We are so grateful to all the families and individuals affected by myotubular and centronuclear myopathy, who have shared their stories with us. Please contact Melanie Spring if you would like us to include your story.  Thank you

Aaron

Aaron was born on the 10th September 2007, by emergency caesarean. He presented blue, floppy and not breathing. It took the paediatric ‘crash’ team 22 minutes to resuscitate Aaron...the longest 22 minutes of any parent’s life. From there Aaron went to the Special Care...

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Adam

This is our son Adam aged 16. Adam has X-Linked Myotubular Myopathy and is currently fully mobile, though he does experience extreme fatigue. Adam is due to Start College in September this year to study computer engineering dependant on his GCSE grades. We feel very...

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Archie

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...

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Charlie

Charlie has an autosomal recessive form (RYR1) where he inherited two changed copies of the same gene (one from me and one from his dad). We were shocked to find that we are both carriers as it is so rare and we had four healthy children before Charlie! Due to this,...

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Daniel

My Son So precious and so small, You've made me so proud, Touched the hearts of all, And made us laugh out loud. From a baby so delicate, To a boy so strong, In my heart forever more, You will always belong. The kisses you blew, I kept every one, The smiles you gave,...

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Daniyal

Daniyal was born on 7.12.2007 early morning, after 30 hours in labour he was born blue and floppy. It took 30 minutes to resuscitate him and eventually there was a pulse and breathing, those 30 minutes were the longest minutes in my life. At this stage I did not know...

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Diego

Diego is three and a half years old now, and was born in Spain. He was born very floppy, but without breathing problems. After 12 hours he needed to be ventilated, but only for 1 day. During the first 8 months nobody knew what was wrong with him. In this period he...

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George

We are a family living in Melbourne, Australia and at the start of 2008, we welcomed our third beautiful child into the world. This is our story... "My pregnancy was just like the other two except I expected to feel far more movement, given that it was my third. The...

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Ingo

Our son, Ingo Thomas Knippenburg, was born in the Netherlands on September 23rd 2004. He was a very gentle, bright and trusting boy, with the most beautiful blue eyes and the sweetest smile. He sadly passed away on February 9th, 2005 aged only 4 and a half months,...

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Jack

What happened to my family is like something you read in a magazine. But it really happened to us. My son, Jack, was born dead. It took the doctors 20 minutes to resuscitate him. It was touch and go – but they did it, Jack did it. From then on we were on the...

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Jeno

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...

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Joey

Hi, my name is Joey Wells, I am 22 years old and I have myotubular myopathy. I have done a lot in my life time, such as play tee ball, school plays, parades, attend public school, all of this was just as a child. When I was 16 years old I was forced to be trached. I...

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Jonah

Jonah is 10 years old and was born in San Antonio, Texas. We didn't know what was wrong with him at birth, and thought it was the side effects of an epidural. But Jonah experienced breathing problems and eventually he was diagnosed as having myotubular myopathy. They...

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Joshua

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...

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Keely

Keely is the third child of three - in 2007, aged 3 she was diagnosed as an X-linked manifesting carrier. Keeley was born 10 days late (the same as the others) after a rubbish pregnancy, I was ill pretty much all the way through with colds that moved in and out of my...

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Kuba

Kuba has had myotubular myopathy since birth. He has always needed the help of a respirator to breathe, and he is unable to walk. When he was younger, Kuba was more able to move his arms and legs, and he was able to lift himself without help. He is now 5 years old and...

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Leon

  On the 11th of September we finally knew that our second son would be born by cesarean section. That day was quite stressful but at last we reached the delivery room where I suddenly had a panic attack. Not even the midwife was able to calm me – it felt as if I...

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Liam

Liam was born on Wednesday 29th December 1993 at 11:45pm weighing 4lb 11oz 7 weeks early. I carried alot of water whilst pregnant with Liam which nobody picked up on, and I lost over 5 stone the night I had Liam which shows the amount of water I carried. Liam was born...

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Maddux

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...

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Markus

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...

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Melissa

Melissa's story updated: They say things happen for a reason, and I certainly believe that, as great things have happened many times in my life. I am the youngest of 5 children. When I was born on October 22nd, 1989 the doctors knew something was different. I was...

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Nathan, Sean and Alex

Nathan was born on the 28th October 2000 and from the start it was known that something was not right. He was sent to Ireland's top Childrens Hospital for tests where, after sending a muscle biopsy off for testing, we found out he had Myotubular Myopathy. After...

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Nathaniel

Nathaniel was born in March 2008; he didn’t breath and looked floppy when he was delivered and had to be resuscitated. We first saw him in intensive care and instantly realised that things were serious. A nurse, when asked whether Nathaniel would live, replied “it’s...

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Nicholas

Our son Nicholas was born at 8.15am on March 31, 2009 (Australian Eastern Time), died at 15.37 on May 20, 2009 . My husband and I finally understand that life is so valuable. We also realize that the world is lovely although the reality is cruel. For so many days (51...

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Oliver

Oliver was born April 14th, 2015. He was our second boy, and my pregnancy was totally different from my first, I was much weaker and in more pain. We assumed it was due to him being breached the entire time. I had a scheduled c-section because I had already had one...

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Patricia

Patricia was born on January 11th 1987 and passed on December 25th 1987.

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Philip

Philip was born 9 weeks early on 23nd September 2008 . He moved rarely and needed CPAP, then after a few days he needed ventilation because he was too weak. Philip had to stay in ICU for 2 ½ months and another 4 months in hospital before he came home. We got his...

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Reece

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,...

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Ronnie

Ronnie was born on the 19th of January, 1990. He was immediately taken to Arnold Palmer Children's Hospital and put into their new neo-natal hospital which had just opened the prior month. He wasn't supposed to make it through the night. He was born caesarean and had...

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Shaun

Hello, my name is Shaun Marsh and I was born on 17/12/1989. At birth there were no implications, so at first everything seemed to be fine. After seven months my mother noticed that I was extremely floppy and so she took me to see the doctor. I began seeing consultants...

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Sukhi

Sukhi Tanday, January 1990 – February 2017 An inspiration to us all.     Click Here To Make A Donation In Memory Of Sukhi  ...

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Tom

On 21 July 2003 our son Tom was born at home. Within minutes he turned blue and the paramedics rushed in. Tom made it though. But this wasn’t the end – rather the beginning of a process with which we were to become all too familiar. Our son struggling for life - blue...

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Toni and Mike

My father and I were diagnosed with centronuclear myopathy (CNM) in January 1999. Both diagnosed as adults, dad was 55 and I was 28. Looking back on my own life, it does seem there may have been early signs of a problem. I was somewhere between 18 months and two years...

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Vitus

Vitus was born November 5th 2008. When he was born, the first thing we noticed was that he didn´t scream. He was very floppy, and the doctors needed to ventilate him, and we were transferred to another hospital that could manage his symptoms better. After 1 month he...

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Will

Our twins were born prematurely at 32 weeks. Whilst Isla was born little she was healthy. Will was a different story altogether, one that would be played over the months and years that followed. He was fortunate to be diagnosed with X-linked Myotubular Myopathy early...

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William

This is our precious little boy William he is currently 5 and half months old. William was born at the University Hospital of Wales which we are very grateful for, as the teams of specialists here are on hand all the time and they are amazing. After a very long failed...

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Zac and Trent

In March 1999 we had our first child. All throughout the pregnancy friends asked us - what do you want a boy or girl? We said we just want a healthy baby. We had no known history of any genetic diseases in our family so were pretty confident that our baby would be...

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Zak

Living with MTM can be tough sometimes, not just personally but for my family too. But with so much research in the pipeline I feel that there's more hope for a successful treatment than ever before. As a family we enjoy some great experiences and I try not to let my...

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