Kerrie tells us about her son, Dude’s, diagnosis of 4H Leukodystrophy
We knew something wasn’t quite right after having 10 pregnancies and 8 births (one born sleeping). You kind of have the upper hand in knowing the “normal” range of development for a child. Dude always wobbled when he first began to walk and had a wide gait. He would bump into things and fall over easy!. Of course COVID got in the way of seeing anyone in quick time. Our health visitor pushed and we went and saw our own GP and he felt the same as we did. By 2pm that same afternoon we were up at the hospital being booked in for an MRI to see if there was anything to show?. Blood tests were done and there were some elevations in some areas but nothing that appeared to be sinister. Until the results came back from the MRI the next day the doctor approached Dudes bed and said there was no easy was of saying it but Dude didn’t have enough Myelin (White Matter) on his brain. Causing the messages from his brain to the rest of his body to be slower and sometimes broken. I thought that’s OK we will wait for it to grow back and he will be OK! This wasn’t going to be the case as it isn’t going to grow back! Further bloods were done and genetic testing took 3 months to get the results.
That’s when the biggest blow came the horror, the shock all rolled into one. We attended the appointment to get the results and we knew it wasn’t good by the look on the consultants face, we sat, he sighed and said we have found Dude to have something called 4H Leukodystrophy POLR3B. I said ok what do we need to do whats the treatment. He said sadly there is no treatment and no cure. Like being struck by a bolt of lightning my heart shattered and sank to the bottom of my chest! He then followed that by passing us the name on a piece of paper and apologising for knowing nothing about it as it was so Rare! He explained all he knew is that Dude would lose the ability to walk talk but couldn’t say a timescale for this. He gave us the name of a website to look at to gain further information. Something he had found while googling before we got there. Mortified by this news, our brains shattered and emotions at an all time high. Feelings of outrage and feelings of so much sadness that he was going to progress into a disease we know nothing about! Where to go? What to do ? Who to ask? What an absolute dire situation to be in.
I cried for weeks googling the disease and seeing the outcome. After lots of research we found a doctor in Amsterdam and decided to book a consultation with her to find our what was happening to our son. We Met with Dr Wolf and she explained the MRI results she explained all the things we can expect all what’s in store for Dude! Some say knowledge is key but that day knowledge felt like the end of the world for us.
We got in contact with the YAYA foundation and got lots of information from them. We also found a Leukodystrophy Charity in London it wasn’t for the type Dude had but the were lovey and helpful. We attended a community weekend and met other families with other leukodystrophies and made good friends. ALEX TLC have been there for us and guided us when needed we are still not sure of everything and what we should be doing but we would be miles from where we are today without these awesome people.
We took a trip to Philadelphia in October 2023 to go to a 4H specific conference, there. We met the the founders of the YAYA organisation and a specialist research team. Dude has some tests and became part of the research study. His 3 sisters Star Rio and Sunni along with mummy and daddy gave their blood to help the programme. They are looking into finding bio markers and common matches in siblings and non siblings with and without the disease.
Fast forwarding to now Dude has become more wobbly and has hand tremors causing issues with fine motor skills such as writing etc. He uses a wheelchair when he is tired or his legs hurt. It’s coming up for nearly 2 years since diagnoses and we are off to Amsterdam again for a catch up appointment with the founder of the disease Dr Wolf. Every step along the way of this journey Dude has smiled every day he is happy we do anything and everything for him to feel safe and happy. The love from our family and friends has been the best treatment by far. They have kept us going, brightened the worst days and been part of the best ones. Our outlook on life changed that day but our zest and fire in our souls now is at a high to ensure Dude lives his best life for as long as possible. He is our hero our White Matter Warrior!