Today I would like to tell you the story of how my parents found out that I had the Kabuki Syndrome. It was quite a roller coaster of emotions that we went through together but my parents didn’t settle for “we are not sure” so they continued to search until they found the syndrome I had.
It was back in january 2005, the year I was born, that their quest for answers started. After several months in and out different hospitals, undergoing many many blood tests, EEG’s, MRI’s and other scans and tests the doctors told my parents “We are very sorry, but we do not know what is wrong with your son. It must be some sort of genetic disorder but we can’t pinpoint it right now. It’s like looking for a needle in a haystack, and we don’t even know in what haystack we have to look”.
But what the doctors didn’t realize, was that my mom wouldn’t settle for that answer. So in 2005 she started her endeavour to find out exactly what syndrome I had. She wouldn’t stop until she got the answers. That way, my parents could use this knowledge to help me become as good as possible and even, one day, maybe cure me.
So my mom, who hates working on computers, sat down behind a computer and began her search. Every single day she looked up all kinds of syndromes on the internet and compared the traits that came with that syndrome to my own traits. The high arched eyebrows, long eyelashes, horseshoe shaped kidneys, a high arched palate, my lower placed ears, hypotonia, joint laxity, neonatal teeth, fetal fingertip pillows and a preauricular pit.
For days on end she searched the internet. Days became weeks, weeks became months and during the weekends, mom and dad would sit down together comparing what she found with what I had. I didn’t realize that there where so many rare genetic disorders and the doctors were right when they said that it was like looking for a needle in a haystack. Until august of 2006, after almost a year of searching the internet, my mom was convinced that she had found it. She called my dad at work and said, “Honey, this time I’m sure I found it! Jerom has Kabuki syndrome!” Dad looked it up on the internet and rushed home that day as he too was now convinced… I had Kabuki syndrome.
But being convinced it one thing… being sure is whole different ball game. Luckily my parents quickly found a specialist professor in the Netherlands, our neighbouring country that had been investigating Kabuki for several years already. An appointment was quickly made with Professor Stumpel in the hospital of Maastricht and in September of 2006 my parents drove 200 km to go see her.
As we were all sitting in her waiting room, my mom, my dad, my big brother who was 4 years old then and myself, the professor passed us on her way to her cabinet. She looked at me and she then quickly shifted her eyes at my mom who had a combined look of hope and anxiety… and then she softly smiled and nodded. It wasn’t a nod to say hello or a courtesy nod, it was an all convincing nod that screamed “your search has come to and end, your son has Kabuki”.
My parents heart was pounding as we all went into the doctor’s cabinet. Professor Stumpel is a very kind and gentle person who speaks with a soft but clear voice. As she investigated me, she asked my parents dozens of questions about me and the journey that I had been on so far. Then she sat down and with her soft voice turned to my mother and spoke the words that we had been hoping for since the day I was born. She said: “Mom, you have done a fabulous job in looking for what syndrome your boy has. You can be proud of yourself because YOU found it. I can formally confirm that your son undeniably has the Kabuki Syndrome.”
With those words, both mom and dad started crying… at first I was surprised to see them cry but then I quickly realized those weren’t tears of pain or sorrow but they were tears of happiness and joy. We finally knew what was wrong with me, we could finally start my journey towards a joyful life and eventually and hopefully one day, a cure!
Unfortunately, at that time, back in 2006, there was still very little known about the genetic disorder itself. The professor claimed that there were less dan 130 documented cases of Kabuki syndrome worldwide and they had only found just one gene (MML2) of the two (KDM6A) that causes Kabuki Syndrome. It would take my parents 7 more years to get the confirmation of Kabuki Sydrome by means of a genetic test result but that, my friends, is a different post that I will write later for you.
My dad told me a quote this week that he got from a colleague of his by the American poet Maya Angelou: “Hope and fear cannot occupy the same space. Invite one to stay”.