Luke is eight years old and has X linked myotubular myopathy. He lives with his mum Clair, dad Paul and sister Anna aged 11 in Coventry. Below Clair tells Our World all about Luke.
Luke was born on 29 April 2004 in Nuneaton West Midlands. Not breathing and very floppy, he was rushed to the special care baby unit to be stabilised and then transferred to the intensive care unit at Shrewsbury Hospital, Shropshire.
We were very fortunate as the consultant on duty at the time was Dr Ros Quinlivan, a specialist in myotubular myopathy, who had an idea this was what Luke had and this was confirmed with a muscle biopsy on his leg at just two weeks old.
We had an incredible support network with consultants, doctors, nurses, the Diana Team from Coventry and of course family and friends all rallying around to help with comfort, kindness and questions that needed answering.
At just over two weeks old Luke was weaned off ventilation to CPAP and was managing his feeds through nasal tube. He was transferred back to Nuneaton special care baby unit and spent the next three months there but was very poorly, needing resuscitation many times.
We were encouraged to bottle feed him but most times he would choke and splutter. It was an awful time as no one knew what was going on. I dreaded feed time as I was so scared but was told not to worry and on one occasion was told by the nurse that I was doing it wrong when yet again, as Luke choked and turned blue. He was whisked away to be re-sussed countless times over this. I felt awful like it was my fault.
At three months old it was decided that Luke would need to be transferred to Leicester Royal Hospital for a fundoplication which would help with his vomiting and while he was under, a gastrostomy button was also fitted, as he was to be tube fed. That was the turning point in Luke's life, as it was there we met Dr Hitesh Pandya, Luke's consultant. Whilst Luke was having his operation they found that he had a collapsed lung and that it had probably been collapsed since birth, which explains the reason of needing resuscitation so many times after feeding. We were told that he had an extremely weak swallow, so we were actually forcing feed straight into his lungs. The lung was a source for infection so they decided to remove it when he was well enough to have another op.
Luke was up and down for the next three months, just when we thought he was getting better he would become critically ill again and spent the next three months either in the intensive care or high dependence unit. The whole time he was vented on nippy or full ventilation, we were told it would be wise for him to have tracheotomy but we refused. It was a personal choice that we had discussed and decided against as we didn't want Luke being hooked to a machine 24 hours a day.
At six months old Luke was well enough for his upper lung to be removed and he recovered in ICU very well. At nine months old he came home on overnight ventilation for the first time, two weeks before Christmas but the next two years was a roller coaster ride for us all.
Luke had many critically ill episodes and was rushed to hospital. We were flagged on Coventry ambulances for him to be rushed to our local hospital at Nuneaton for stabilisation only and then moved to Leicester Royal Infirmary, it is still the same today. With very little trust in Coventry and Nuneaton hospitals we relied on the support from Leicester, Shrewsbury and Birmingham.
Within the first year of Luke's life, we were trained in resuscitation, physiotherapy, deep nasal suction and gastrostomy button changing. We were also introduced to Acorns Children's Hospice, where we saw a genetics counsellor. Myself, my mum and my sister were tested but they were okay, so it was agreed that it must be a new mutation that had started with me.
The guilt and devastation lives with me still and I hate the fact that my daughter may have to go through this, but it is early days and she is still young.
Luke has had other complications that are related to MTM, undescended testes (he did have an op but has made no difference). Also liver disease (high bile salts) - without the right treatment this is very dangerous and distressing as it causes immense itching and scratching but an antibiotic is all that is needed for this.
Luke also has no control of toileting and so he wears nappies. He uses an electric wheelchair and has no weight bearing.
Luke's daily routine is as follows; 6am up and off ventilation,
6.30am physio and nasal suction,
7-7.30am toilet, chair and milk tube fed,
8-8.30am cleaned, dressed and washed,
10.30am antibiotic Rifadin, Movical and water, which are all tube feed,
12.30pm toilet, chair and milk feed by tube,
2.30pm antibiotic Rifadin and water tube feed,
3.30-4pm physio and nasal suction,
4.30pm antibiotic Azithromycin with water by tube tube,
6pm toilet, chair and milk tube feed,
8pm bed, ventilation, full face mask on, sat monitor on, video camera on and baby monitor on.
This is his daily routine when he is well, if he has a chest infection there are more antibiotics to fit in and extra physiotherapy and ventilation during the day as well.
Obviously Luke wakes through the night either to be turned or needing mask off but he generally sleeps at least five hours with his mask on and occasionally goes all night. If there is a problem the alarms will sound. It is very rare that we have a full nights sleep.
Despite this, our Coventry support team still insists that we are not entitled to any support, as we don't need it when he is well, therefore they cannot supply it when he is not well. It is a difficult situation because on occasions, say where Paul and I both need to be at our daughters concert or play or even a parent evening and Luke can't go as it is on late, only one of us can go, as there is no one trained to look after Luke for a couple of hours.
Our only respite is when Luke goes to Acorns and that is fantastic, a wonderful magical place where he has a great time. We have respite about every three months for three to seven days depending on what they have available. However, as it is in Birmingham unfortunately we don't have the luxury of just having a day visit as the travel is to far and expensive. There is no other children's hospice in Coventry that has the level of care that Luke needs. Without Acorns and their support, I fear that our family would be broken. It truly has been a lifesaver and we are extremely grateful and thankful of everything they do with Luke.
Luke is happy, intelligent, playful, caring, gentle and kind. He gets on really well at school and has many friends. He has a very close and special bond with his sister. He likes to role play anything from cops and robbers to Harry Potter. He loves music and is a great little mover. He dislikes reading and being told what to do. He is fiercely independent and tries to do everything himself.
Luke has just been awarded a dream to Disneyland Florida and is really excited about flying.
The best advice ever given to us was off his consultant Dr Hitesh Pandya, who told us to always keep positive, don't listen to the down side of this disease, Luke has not read the book, he will find his own page to write.