Thanks for taking the time to visit our JustGiving page.
Matt is entering the Great Eastern Run again on October 9th 2011. Once again we are raising money for Newcastle University and their research into treatments and methods in preventing Mitochondrial Diseases. Unfortunately Caroline will be unable to enter the run in 2011, because she is recovering from heart surgery. She hopes to be running again next year.
Matt & Maries a son Henry was born on 6th October 2007. Henry was a normal baby until he was 3 months old when we noticed he had rapid movement in his eyes, horizontally and vertically. We had an appointment with an Opthamologist and he was diagnosed staight away with a condition called nystagmus. Several months passed and his condition improved a lot to the point where it was hardly even noticable. At 11 months old, Henry had an MRI scan on his brain, to see if anytyhing was causing his nystagmus, the scan came back normal. Then at around about one year old, he had a spell of being a bit wobbly, mostly his head. We took him to see a Peadicatric Consultant, however the wobbliness stopped after only a short time. This was put down to 'one of those things'.
Henry continued to appear to be a normal child and started walking at around 15 months and making the usual baby noises. Over the following months we started to have concerns over his walking and speech development. At around 18 - 19 months Henry started to have very brief seizures, a small eye roll, sometimes with a jerk of his head. We were then referred to a Peadiactirc Neurologist Consultant. at first the seizures were infrequent, but after a month or so, they became much more frequent. After some tests (EEG), several appointments and showing a video we had taken of Henry, he was diagnosed with Epilepsy, and prescribed Sodium Valproate.
Sodium Valproate had a very quick effect, and we noticed an improvement with seizures, and Henry in general was a happier child within a matter of a couple of weeks. This carried on passed his second birthday, until around beginning November 2009. Henry fell ill, vomiting, tiredness etc, we took him to see a GP and were told he had a virus (ear infection), Henry appeared to improve for a few days, but then over the course of the next few weeks he was very up and down. After appointments with the G.P. they still said it was a virus and not unusual at the time of year etc. It all came to a head one day when Henry was having such a bad day (hardly being awake etc). We also noticed he was puffy around his eyes and hands and had a slight yellowness to his ears so we took him to hospital. We stayed in overnight but were sent home the following day. Two days later he had a routine appointment to see his Paedicatric Neurology Consultant. Who after much deliberation, decided to stop his epilepsy medication, keep us in and run more blood tests. Over the next couple of days Henry had lots of blood tests, and was very unwell and we were told his liver wasn't working properly. We never once thought things were as serious as they would turn out to be & we thought Henry would be ok by Christmas which at that point was two weeks away. Finally after 3 nights, Henry was transferred to Kings College Hospital in London, on 12th December 2009, as they specialise in Liver Patients.
When we arrived at Kings, we were told Henry had Acute Liver Failure. Which they think was caused by Sodium Valproate toxicity. This was devastating news and we asked if he would need a transplant. They told us sometimes the liver recovers but a transplant is a possibility. The following morning we had a meeting with a Professor (one of the Liver Team), who told us they had all of Henry's notes from our local hospital and suspected Henry had a Mitochondrial Disorder. We had never heard of this, but as he explained what this was, the shock and horror sunk in. We were told that if Henry did have Mitochondrial Disease, a transplant would have devasting neurological effects and possible damage to other organs. I asked him if Henry could die and he said yes. We were absolutely distraught and could not believe this was happening to our little Henry.
The Professor explained the following: Mitochondria exist in nearly every cell of the human body, producing 90 percent of the energy the body needs to function. In a person with mitochondrial disease, the mitochondria are failing and cannot convert food and oxygen into life-sustaining energy. This can be a very mild disorder or life threatening.
We were told that Henry would need to have specialist blood tests and biopsies. Over the next week, Henry got Swine flu and steadily went down hill. Throughout this first week in Kings Henry was incredibly brave having constant treatment including, needles/canulas, medication etc. On 21st December 9 days after of arriving at Kings, Henry had to go to theatre for skin and muscle biopsies, he also had a hickman line put in, so that he could receive medication easier. This required a general aneasthetic, and meant that he would need to ventilated and sedated when he came out of theatre. He was brought back up to the Paediatric Intensive Care Unit (PICU) where he stayed for the following three weeks over Christmas & New Year. Henry's liver became so ill, his blood wasn't clotting as it should, he became very yellow and he started retaining fluid. At one point, he seemed to improve to the point where they thought they could take him off the ventilator & on 24th/25th Dec he was trying to open his eyes & was gripping our hands when we spoke to him. This gave us hope that we may sometime get to see Henry open his Christmas presents which were waiting for him at home. Then other problems started, his lungs started bleeding, his kidney's weren't working properly. He had another MRI on his brain, which revealed significant changes due to his mitochondrial disease. Throughout this time, the PICU staff were fantasic. They did everything they could for Henry, never giving up on him and supported us when we needed it. We prayed for Henry everyday, for a miracle to happen. Henry rallied several times, and fought as long as he could, in the end though, he was too weak to carry on. Henry passed away on 7th January 2010, aged 2 years and 3 months of multiple organ failure as a result of Liver Failure and Mitochondrial Disease. He was the light of out lives, and we can't put into words how much we miss and love him.
In April 2010 we returned to Kings College Hospital for Henrys final biopsy and blood test results. The results were as expected, Henry had more than one defective POLG gene confirming he had Alpers Disease which is a form of Mitochondrial Disease and most probably it was unmasked by the medicine Sodium Valproate.
Alpers Disease will affect less than 1 in 200,000 people and is therefore very rare.
Thank you for every donation for such a worthwhile cause.
Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving – they’ll never sell them on or send unwanted emails. Once you donate, they’ll send your money directly to the charity and make sure Gift Aid is reclaimed on every eligible donation by a UK taxpayer. So it’s the most efficient way to donate - I raise more, whilst saving time and cutting costs for the charity.
