For the second home game of the season, the charity health initiatives host a little boy close to the hearts of some of our very own fans. Blake McMillan is 5 months old and was diagnosed after birth with MeCP2 duplication syndrome. Dad, Paul McMillan, is a lifelong devoted Dundee fan, Mum Jenny is the great niece of Bobby Seith and Dundee FC Director Steve Martin has close links with the family and will be climbing Mount Kilimanjaro from October 23rd to 31st to raise funds for the Blake McMillan Trust. Steve will be joined by fellow dees Duncan Soutar and Colin Morris on the climb, and to top it all off, one of the heroes of the ‘Deefiant’ season Craig Robertson is a Trustee of the Blake McMillan Trust.
MeCP2 Duplication Syndrome is a rare condition, occurring almost exclusively in males, with only around 150 diagnoses worldwide. Symptoms can include moderate to profound intellectual disability, weakened muscle tone, problems with feeding and failure to thrive, speech that is poor or non existent, and muscle stiffness. Severe, uncontrolled epilepsy is also very common with sufferers of this condition.
Developmental motor skills are profoundly delayed, such as sitting and walking, with one third of those diagnosed needing assistance with walking, with the majority needing a wheelchair by adolescence. Most sufferers have recurrent respiratory tract infections which often lead to pneumonia, sadly a major cause of death, with almost half of those affected succumbing to the illness by the age of 25.
Society Community Director Jacqui Robertson met with Paul, Jenny and Blake to hear their story and what follows is a from the heart letter from Jenny and Paul. We appreciate how hard this must have been but both Jenny and Paul want to get Blake's message across to highlight what is a rare and relatively unknown condition in the hope that research can be improved both by donations and understanding.
"Blake James McMillan arrived on 21.3.12. Weighing in at 6lb2oz he was tiny, compared to his big sister Faye who was 7lb15, but he was very cute! We first realised that something was wrong at 24 hours when he got his paediatric review. There were a few wee things that were not quite right about him, so the consultant came in to give a second opinion. Within minutes he was taken to special care, and we were left in shock. The midwives had already started planning our discharge and we could not believe this was happening.We were allowed to see Blake an hour later, and he had a nasogastric feeding tube in situ and he was sleeping. They said they wanted to run some tests, and he would be in for a few days. I was left in a side room in the ward, and eventually, after what seemed like weeks, but only days, I was moved through to be with him.
After various tests and scans, we were allowed home, and were to wait for the results. We were unable to just enjoy the newborn stage, with a huge question mark looming over our lives. We were terrified as to what could be wrong with our beautiful little baby, but as the days went by, we began to believe that he was going to be just fine. However, our darkest day arrived! We went back up to Ninewells to see the consultant, to receive the results of his genetic tests, and with the words 'It's bad news', our lives as we knew them, completely crumbled. The condition is one that even the consultant had never heard of, and our geneticist had known of it, but never cared for anyone with it. MeCP2 Duplication Syndrome is what Blake has been diagnosed with. We were told that day that it would affect him 'globally'. It was all too much to take in at the time, and we left the hospital dazed, confused, terrified. We have since learned so much more about this dreadful condition, and the more we learn, the worse it becomes! There is no light at the end of this tunnel.
The pain we felt then, and still do, and probably always will, is indescribable. Immediately, we grieved for the son we thought we were having, the dreams we had for our little boy, shattered, Paul’s dreams of playing football with his son, destroyed. We are now facing an entirely different future, a lot of it unknown, but what we do know is not good. Our pain was tangible, our loss so strong that we didn’t know how we could ever pick ourselves up. This kind of news is something that no parent should ever hear, yet here we were, after having one healthy little girl, and a healthy pregnancy, with no indication whatsoever that there was anything wrong, with the worst possible news ever. We struggled through each day, and we still do. Some days are better than others, but we carry this huge sadness with us everywhere, it never leaves and we never forget it. I can honestly say that not a minute goes by where I don’t think about it. I even dream about it. We have no escape from it, and more importantly, neither does Blake. He is such a handsome little boy, who is so dearly loved by so many, and we find it so difficult to believe that this perfectly formed little boy has such a dreadful, cruel sentence.
There is no cure for MeCP2 Duplication Syndrome, although trials are being carried out in America which need to be funded. Here in the UK, there are not many sufferers, and only 5 diagnosed with it in Scotland. The condition has just in the last few weeks, joined forces with Rett Syndrome, which mainly affects girls, and which is also related to the MeCP2 gene, so finally MeCP2 Duplication Syndrome are under a charity, although not themselves a stand-alone charity. We hope to raise awareness into this condition, and ultimately get more researchers interested and involved into looking in to treatments or cures. We are aware that a cure in our son’s lifetime is unlikely, but we also think it’s so important that we think of future parents going through this in years to come, and maybe their story will have a happier ending.
We have set up a Trust Fund, called The Blake McMillan Trust. We are going to use this for any of Blake’s needs. We have already had it made clear to us that Blake may not receive everything he needs from the NHS, and we want to give him the best of everything, from equipment, therapies and carers to treatments. We also believe strongly in helping others with MeCP2 Duplication Syndrome, so will have decided to donate a percentage of everything that comes to Blake, to the UK group for the condition. As I said before, research is so important, and we want to help improve the lives of people with this awful condition.
We would just like to add that we have been so grateful for the immense support we have been given. Everyone at Ninewells has been faultless. Nothing has been too much trouble, and in fact, our consultant paediatrician even made a house call to check on us! Blake has a physiotherapist, a speech and language therapist, a dietician, and a case manager (bit like a PA!!). Our family and friends have rallied round, even strangers have offered help and support. We have had plenty of shoulders to cry on, and plenty of good listeners to call upon. Whilst our situation is unbelievably sad, and helpless, we have encountered so much love, and we are blown away by human kindness.
No amount of money will take this away from our boy, but it may help make his life as comfortable and happy as possible, and we will strive to give him everything he deserves, love being at the top of the list."
Blake is the match mascot on Saturday so please give him a warm welcome to the pitch. Also thanks to the generosity of two Dundee fans who wished to remain anonymous, Blake is also Saturday's match sponsor.
For more information about Blake and upcoming fundraising events please take a moment to check out the links below and like “Blake's page” on Facebook.
Baby Sensory Bash
Blake's Mountain Goats
The Angus Kiltwalk
Also, Blake’s Birthday Bash….Dinner Dance 23rd March, Apex Hotel Dundee (which sold out in 12 hours!)