TRANSCRIPT
First of all, I'd like to say it's a real privilege for me to be given the opportunity to speak to so many wonderful people. At that time of the day, I'm very grateful that you listen another 10 minutes to my story. Thank you.
It was the summer of 2005. I was sitting in the doctor's office and waiting for the results of an MRI scan for my first son, Jonas. he was six months old when seen because of developmental delay. They diagnosed a pontocerebellar hypoplasia type 2. I had no idea what that meant. Cerebellum? What for? The neurologist told me it's about coordination and motorics.
I asked her, “Does it mean Jonas will never learn to play the piano,” because he cannot move his hands independently. This, for me, would not have been such a big problem. I can't play the piano either. “Or does it mean he will never learn to ride his bicycle,” because maybe he couldn't balance on the bike. This, at that time, was the most severe impediment I could imagine for my son.
She answered, “It will be somewhere in between.” Then she gave me a small handwritten note, “PCH2, Professor Bart, 1995”.
At home, I Googled it. PCH2 is an ultra rare neurological condition due to severe underdevelopment of the brain. There were 16 kids in the study, none of them ever learned to sit, walk, talk or grasp. Typical symptoms were severe epilepsy, apnea, sleeping disorder, lots of respiratory issues, feeding and digestive problems, and ten out of these 16 kids died before they entered school. No treatment available.
This could not be true. No way.
Three months later, the engineer in me confronted my son's new neurologists with the before and after analysis of Jonas's progress. July, no head control at all. October, great head control. At least I thought so. July, no fixation at all. In October, his eyes followed toys as if they were magnetic, and so on.
However, the doctor made clear, “Great approach, but, unfortunately, the MRI and, thus, the diagnosis are crystal clear. Your son will never live an independent life.”
Devastating news and definitely far away from this piano bicycle thing.
He continued, “But from over 30 years of professional experience, I can assure you that every child has a frame of development. You can think of it as a picture frame. The size of the frame is different for each child. It depends on when the child was born, where they were born. Sadly, also on the financial status of the parents and it very much depends on the genetic disposition.”
“Jonas's frame,” he continued, “will be much smaller than the one of a child without PCH, but it is there. And its size is definitely not zero. The best you can now do for your son is to help him to live a good life within his frame.”
That's exactly what I've been doing since that day.
Months went by and the more Jonas stayed behind in the development, the more I realized that we were supposed to live our life in the parallel universe of the disabled people, similar to muggles and wizards in Harry Potter. At that time, standing in Jonas's room looking out of the window into the garden and realizing that I never will be able to play soccer with him made me cry.
In February 2007, Jonas's brother Felix was born, all pre and post natal tests showed a healthy boy who behaved wonderfully normal and completely different from Jonas in his neonatal period. Felix opened a completely new perspective, a foothold in the other universe. There was relief, hope and some kind of normalcy. Felix got a soccer ball for Easter.
But life had other plans. On a July evening at 6:30 PM, the lead neurologist and the director of the children's hospital herself walked down the aisle to Felix’s room. In this very moment, I knew what they were going to say, the same MRI as Jonas. Felix also had PCH2. No soccer in the garden. Nothing. Never.
The same evening, we drove back home from the hospital along a winding road through the woods. This was the only time ever I thought for a brief moment whether it would be better to run the car into one of the next trees. Obviously, I did not.
However, two severely disabled sons with the need of 24/7 intensive care, no treatment available, no support system, no idea what’s to come, this was what summer 2007 felt like.
Coping with this situation was not easy. It took me a while to accept that life was going to be completely different than what I dreamed of. Slowly, I realized that even though PCH2 was ultra rare, we were not alone. Together with other PCH parents, we established a virtual exchange platform and organized our first in person family meeting in 2008. We learned to support each other. We parents became the experts for our children.
We kicked off a series of biannual meetings for the families. We invited scientists and doctors to these meetings. We parents initiated the first ever natural history study on PCH2. Over the years, I became fine with looking out of Jonas's window and watching my sons in our garden enjoying to swing in the hammock, in the sun, which was in their frame. No more tears about not being able to play soccer with them, which was out of the frame. Life turned out to be different, but not necessarily worse.
In 2018, seven PCH parents founded PCH Familie e.V., the first registered patient organization for families living with PCH2. Our exchange platform grew to the most comprehensive source of information on PCH2 on the planet. We started fundraising to support science and to organize future family meetings.
The biggest of these meetings just took place in July this year, our Cruise4Life, 28 children living with PCH on board of a cruise ship on the Baltic Sea among 6,000 other passengers.
In 2019, we kicked off PCH2cure, our patient driven research initiative of basic researchers, clinicians and us parents, a small group of very committed people sharing an ambitious vision to find a cure for PCH2.
On December the 1st, 2022, my son Felix plunged into the biggest crisis of his life so far. Severe central fever hit him and almost killed him seven weeks later. And on the very same day, CZI publicly announced that PCH2cure received the brilliant $2 million PPC Grant, a complete game changer, the most important news for PCH2 families since the gene was found back in 2008.
Eventually, there was some hope to at least widen the picture frame for PCH2 children. This hope led me to my first CZI Science and Society meeting last year in September. There, I was completely overwhelmed by the power and the confidence in the room.
In the morning of the first day, we just heard it, Michael Hund from EB Research held a brilliant keynote and told us, “Be a buffalo and run into the storm.”
In the evening, Brian Wallach from I AM ALS told us via Zoom, “My generation is the first one that will not die from ALS.” What a powerful statement.
Exactly 18 years after having been told the story of Jonas's picture frame, this day in Newport Beach last year changed my life mission from improving the quality of life of my sons within the picture frame to get rid of the whole frame for all of the children with PCH2.
Before going to bed that day, I texted home, as of today, I'm 100% sure that Jonas and Felix will still be alive when we find a therapy for PCH2.
Thank you.