Patient Stories

In loving memory of Marconi. 'Marconi was a young man of 18 who passed away on 18th November 2023.  He was my warrior and my hero. I'm comforted knowing he can now walk, run and is playing with other MTM children in heaven'. Marconi's mum, Rachel. If you wish to make...

It took me thirty years to get the diagnosis of Myotubular Myopathy. From being a child I had always found it difficult getting off the floor, going upstairs and hills etc. My headmaster said they kept the medical kit for me as I was always falling over and injuring...

This is Rubén, our little (big) bundle of laughter and chaos. Rubén was born on the 17th December 2017... I remember excitedly packing minimal things in our hospital bag as our plan was to be in and out and on our way home the next day due to such a hassle free...

When I was pregnant with Scott I always knew something wasn't right (he was my 2nd child), I didn't feel normal movements or kicks. Each time I went to hospital I was put on the machine and always came under criteria but was always sent home and told to come back...

In memory of Jack. This is Jack Adam Blunsdon, ‘chunky monkey'. Jack was born on the 11th January 2006. After a traumatic birth, with Jack requiring resuscitation and ventilation, we made it to SCBU. Nobody knew what was the matter with him, all we knew was that he...

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...

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...

In memory of Archie and Connor. My sons, my warrior twins, Archie and Connor, were 35 weekers - born on 20th February 2018 but born as “floppy babies” as the doctors call it. Archie was not breathing at all, Connor was but with some help from the nurses. They both got...

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,...

In memory of 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,...

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...

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...

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...

In memory of 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...

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...

In memory of 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...

In memory of 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...

This is our son Roman, who is now 7 months old and has x-linked myotubular myopathy. My pregnancy was totally normal but I didn't feel Roman move much and they told me that was probably normal because I had an 'anterior placenta' (which is when the position of the...

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...

In memory of 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...

In memory of 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...

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...

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...

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...

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...

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...

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...

In memory of 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...

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...

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...

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...

In memory of 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...

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...

In memory of 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...

In memory of 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...

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

In memory of 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...

In memory of 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...

In memorial of 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...

In memory of 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...

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...

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...