When I was 5 years old, the professors at the hospital of Maastricht started a study on the effects of growth hormones on Kabuki children. Back then we hadn’t found the exact gene yet that caused my disorder so the doctors decided that I couldn’t participate to this study.
My parents were quite upset by this news so they started to investigate what it would take to get me to participate or if they could get me on growth hormones in any other way. So they took me to the University hospital in Ghent. There they met with a doctor who was willing to help us out. Although the earlier blood tests showed no decrease in my growth hormone production, the doctor was willing to start a GH-treatment. But this treatment was very expensive and not subsidised if started privately.
Meanwhile, my parents had also contacted a private research lab to test my bloodwork. As I didn’t have any genetic disorder on the Kabuki type 1 gene (KMT2D formerly know as MLL2) which, with 75% of all Kabuki kids, is the most common disorder, my parents had asked to test for type 2 (KDM6A). These results revealed I had a disorder type 2 which only affects about 5% of all Kabuki diagnosed people.
Knowing this new information, my parents reached out to the hospital of Maastricht again to find out if I could now participate to this ongoing study. By then it was 2014 so 4 years had gone by already. Again the response was negative so my parents needed to become more creative…
As the private scenario was so expensive, my folks turned directly to Pfizer, the pharmaceutical company that makes the growth hormones. My dad used linkedin to find out who he knew with contacts within Pfizer. To his surprise, a co-worker of his had a friend that worked there. Through that friend of his co-worker, he was able to reach the person responsible for the study that was being done at Maastricht. As Pfizer was the company paying for this study, they were able to help broaden the scope of the study to now also include kids with a Kabuki type 2 disorder.
Next thing you know, I was on growth hormones! Thank you Pfizer, thank you hospital of Maastricht!
The GH treatment has helped me a lot to become stronger and bigger. Although I only have about 3% fat – it has allowed me to overcome my “failure to thrive” which I had since birth. I realize they won’t help become 1,8m but that really doesn’t matter to me all that much. Without this treatment, I would never have become strong enough to walk.
By now, the clinical study has ended and I am no longer on growth hormones. But this turned the leaf to a new chapter where I had my leg surgery done to correct my legs so that I could walk. As I’m almost there, it’s now time to turn another leaf and start another chapter… how about potty training? It might seem trivial to some of you but getting rid of the diapers is my next big thing!
It requires all the people in my life to practice with me every day and to bring a new and strong structure in my daily routines – but as everybody is pulling together to help me overcome this next challenge, I’m sure I’ll be able to say goodby to those diapers soon. And while I’m practicing this on a daily basis… dad is already getting things in place for my next challenge. He’s talking to the health insurance to get me on those growth hormones again. So cross your fingers everyone so that he can get this done for me.
The moral of today’s story is simple. Hope without action remains a dream. If you want to advance in life and overcome the impediments that you come across – it is important to be hopeful about the best possible outcome. But hope alone is not enough, I’m afraid… You need to get up and take action… even when people, politics, the system or anything else is saying it can’t be done!
So if you want to move forward, don’t look at others to do it for you. For sure, the support of your loved ones, friends and family is essential, the first step will always need be made by yourself. And if you work hard towards your goals, the universe will collapse into the best possible reality.
I hope you enjoyed this weeks post and be sure to come back next week for another blogpost on my adventures in life!
C U
Jerom