This handsome guy hails from the United Kingdom and was diagnosed with 4H Leukodystrophy (4HL) less than one year ago. Hear from his amazing mom, Kerrie, about their journey with 4HL.
Tell us about your family’s diagnosis process with 4HL.
We first noticed that Dude’s walk was off balance (I have 7 kids; you know when something is different). We were referred to the hospital a few weeks later and we received a letter to say there was no neurological evidence of anything being wrong, so Dude did not need to be seen. Covid came and lockdown, so we continued to support Dude at home physically and educationally. He picked up things super quick like his memory was insanely brilliant. He continued to be a bit wobbly.
When the lockdown lifted, we revisited the health visitor and she said we must go to our General Practitioner and explain what has been happening. We went at 10am on Tuesday in January 2022 and by 2pm that same day we were up at the hospital seeing a neurologist. We spent the next week there having scans, etc. When they found out that Dude did not have the correct amount of myelin surrounding his nerves around his brain, they asked for blood from Dude’s father and myself for genetic testing. The consultant said if they could not find anything, he would ring me and let me know and we would do other investigations but if he did find anything he would arrange for us to meet. We spent the next three months not really knowing what to expect.
Then came the phone call asking us to come up for an appointment. My heart sank as I remembered him saying we would only meet if he had found something. We attended the appointment on April 26, 2022, where Dr Gallichan said they had found out Dude had 4HL POLR3B amd he wrote the name of it on a scrap of paper for me to take away and the name of the Yaya Foundation. He said he could not tell us anything as he did not know much about the disease except that it was a degeneration disease and Dude would progressively worsen over time.
We left the hospital, and I was beside myself. I broke down and thought he was going to die soon. I Googled it (worst thing I could have done) and spent the next few weeks crying all the time. Then I got in touch with the Yaya Foundation, and they sent me information and I talked with Christina who knew what was happening. I got my strong “mumma” head on and decided to spread awareness and start a fund for Dude for anything he may need through his journey and to donate for research into this dreadful life limiting disease. We have done sponsored walks, combat sessions, been in the local paper, had a big Blue Ball, done online raffles, church tabletop stalls. My family and friends really pulled all the stops out for Dude. We will continue to do this too. Between Yaya and Alex TLC (as we are UK based) these are the greatest source of help, advice, and information that we will be forever truly grateful for.
What does a day in your life look like?
Each morning, Dude is very wobbly, and his hand tremors are at their worst. It’s almost like Dude needs extra time for his body to wake up so we go slow and steady in the mornings he is super scared of the stairs. We do not know why but he needs to be either coaxed to sit down /hold hands/turn around to descend backwards or simply carried depends on the situation. Once downstairs, he will have his breakfast in his highchair (he still fits in there which is really handy) as Dude likes and tries to be as independent as possible, he wants to feed himself, but the tremors don’t help he shakes getting that spoon with Cereal and milk on from bowl to mouth is a mammoth task for him. Again, it differs daily; some days he manages, other days he will say, “I’m a bit wobbly you feed me!”
We get him dressed, again supporting his balance or sitting him down to get dressed. Depending on Dude’s mood this decides how this will go he is very literal so we need to be careful what we say as he may take it the wrong way. He is able to tell you if he is happy, sad, or angry, etc. He is obsessed with cars and knows almost every car logo we pass so we have hiked in on that and have a car logo book which we are able to regain his attention with.
He attends preschool four days a week and has a day at home with daddy on a Wednesday to give him rest. He loves preschool when he’s there. He has two brilliant special needs teachers that make up Dudes IEPs and keep him busy with 1-1 work time sessions to keep his skills going and encourage him to use his fine motor skills. He is doing amazing. Again, some days are worse than others depending on Dude’s emotions and if he’s tired or not.
We attend regular appointments with the eye infirmary (he has severe myopia or nearsightedness), he is waiting for his tonsils and adenoids to be removed (as he has some breathing challenges, especially at night), and we just found out he needs grommets or hearing aid, so this is in the pipeline too. His doctor is concentrating on fine motor skills too and we have bought him some small play activities to help retain these skills too. We are fitting some handrails at preschool to aid with balance on the toilet and stairs. Then we do teatime in Dude’s highchair or have a picnic on the floor if it makes it easier for him. Then we do bedtime, which can be challenging as he is very headstrong and if he doesn’t want to go to bed, he feels why should he! Generally, he will lay in bed and either play a Peppa Pig game on his tablet or watch a Ben and Holly or Peppa Pig or Blippi video and fall asleep.
What are some of the challenges you experience?
The hardest one was the initial diagnosis. The most awful thoughts pass through your mind and thoughts of the worst thing that could happen! The other challenges are his stopping breathing at night (hoping removing his Adenoids will help with this) and his outbursts when he’s upset or angry.
What are things you are grateful for?
I am so grateful that the Yaya Foundation was able to give me information and to talk me through the initial diagnosis. I am extremely grateful to know Dude is gonna live for so much longer than we thought. There is always hope and optimism by listening to conferences for Yaya Foundation and having that link is imperative to our journey. Alex TLC has been good for us too in the UK. I have used Facebook as a linking tool too and found many families in the same boat as us and are so grateful for their advice. Also Tammy’s book Raising Julia gave me insight and a lot of hope.
What advice would you give to a new family or person diagnosed with 4HL?
Link with Yaya Foundation and gain all the information before you drive yourself mad trying to Google and find stuff as the stuff you find is not good. Also to link up with other families; it was truly the most inspiring thing to get to know other families and talk to them and get real true information. Most importantly, do not panic and make every day count. Make memories to last a lifetime! Do not dwell too much on the future; concentrate on the here and now and what your children can do. Love them unconditionally. Be proactive because no one will do it better than you. Raise awareness and raise money for your needs now, your future needs and for equipment.
Do not give up; they deserve the best life!