Finding a therapy for Robin

Thank you for visiting our page. We are reaching out for your generosity towards our 8 year-old boy, Robin who has an ultra-rare genetic disease called KAT6B syndrome. We are currently designing a research project and need funds additional to ours to complete this project which, hopefully, will lead to crucial information on Robin's unique cells for a therapy.  

Here is our story.

Robin's story

Robin was born in July 2014 after a normal and quiet pregnancy. A few things were different with him at birth (he is our second child) but not to the point that we were alarmed right away. It is only when he turned 6 months that we had to be realistic: he was not meeting the regular milestones of child development, far from it. He could not hold his head, was very weak (he was not moving from any position we would put him), had difficulty feeding (he would choke, even on milk) and there was no babbling coming out of his mouth (even the crying was not very loud which I guess, as tired parents, we were happy about :)) He had a severe torticollis soon after birth which led to his head being flat and face deformed and he had to wear a helmet 23h/24h for 3 months (from 8 to 11 months old) to reshape his head. The torticollis took months to reduce but it was only the beginning of the journey as it became clear he needed physiotherapy, not only for his torticollis but also for his very delayed motor skills, occupational therapy, speech therapy and hospital appointments in many departments to check on different things. He had surgery at 8 months for an undescended testis. We were wondering if he would be able to walk, eat on his own or speak which are questions that you don't want to doubt about as parents. And the danger of all this is to become so swamped by it that you are no longer your child's parent but his therapist.

It is only after 3 and a half years and some thorough genetic testing that the diagnosis finally came: he had a mutation in his KAT6B gene (aka Say-Barber-Biesecker syndrome). This was then the beginning of another journey: finding out more about KAT6B and what can be done. Well, this journey turned out to be quite short because there was not much to be found about it out there! That is when, as parents, you become the ones educating doctors instead of the opposite because no one knew about KAT6B.

KAT6B

There are currently about 150 individuals diagnosed with a KAT6B mutation worldwide. It is an autosomal dominant syndrome and apart from very rare exceptions, there are as many different mutations as there are cases which results in a very wide phenotype. Some kids are mildly affected and some others severely with various congenital malformations, global developmental delay, speech delay and intellectual deficiency. So, Robin is one of a kind as there is only one like him in the world but the downside is, this is a huge challenge for potential therapy because it has to be tailored to his very own mutation.

Fortunately, my work in the drug development field made me see that some very rare diseases can get some attention, usually thanks to highly motivated families and I even got to see some medicines designed for one single patient. So I just began thinking: "why not Robin?" but I also was thinking (and seeing) how expensive that was. Nowadays, with new technologies being available, some things are not as costly or time-consuming as they used to be so my next thought was: "I cannot bear the fact that there could be a solution out there and the only limitation would be financial". So here I am! and here is the plan.

What is the plan?

The plan to be financed is quite simple: take some skin cells from Robin (through a skin biopsy), cultivate his fibroblasts and characterize precisely the metabolic differences between his cells and "normal" cells. Once this is done, an assay would be developed to identify marker(s) of his disease and finally, we would screen a library of drugs and supplements on these cells, measuring these markers in order to possibly identify a "hit": a drug or supplement having a positive effect on Robin's cells (increasing KAT6B).

This personalized medicine has a cost. A high one. Which is why we seek public help today. Our goal is ambitious and it is only half of what will be needed but it would be such a great and exciting start!

What will be the future?

Robin is now 8. He can walk, run, ride a bicycle with help. He can also feed properly but he cannot speak in a manner that everybody understands him. He can manage everyday life but not by himself due to his delayed fine motor skills (he needs help to dress, is not potty trained,...), muscle weakness and intellectual deficiency. He also has epilepsy under control with proper treatment. But he goes to school! A school for kids with special needs that is perfect for him and he loves learning new things at his own pace. Every small victory is a huge one for us: like when he first pointed his finger to something at 18 months or finally succeeded in blowing his candle for his 6th birthday!

Our hope with this fundraising, is to find a therapy that will help Robin lead an independent and fulfilling life as an adult. It would also be the first time that a KAT6B patient's cells would be thoroughly studied which, hopefully, would pave the way towards more KAT6B research in the future.

Thank you all for your support and please, spread the word!!