Max and Xander
Barnsley, South Yorkshire - UK
Hi, I’m Sophia Tattersall, mum to Xander and Max Tattersall. We live in Barnsley, South Yorkshire in the UK. Xander was 6 years old and Max was 3 when they were diagnosed with Classical Homocystinuria. Xander is now 17 years old, and Max is now 14. Both children were born naturally with easy pregnancies. Xander was born with an enlarged kidney and underwent pyeloplasty surgery to correct this when he was 9 months old, but nothing was picked up in regard to Homocystinuria at that time. Both children were also receiving early help with things like speech and language, and both already had an EHCP plan in place, which is an Education Health and Care Plan in the UK where we are from.
Xander hit all of his early milestones but then we had major problems with toilet training and his behaviour became absolutely terrible. Max was very late crawling; he was a bum shuffler, and he didn’t walk until he was 2.5 years old, which is also when he started having small seizures.
Eventually, they built up to the point where he was having over 150 seizures a day. He underwent an EEG and was kept in the hospital for a series of blood tests and to start epilepsy medication. He was also in status epilepticus which is one big fit. It’s really dangerous, but he was conscious and able to function. When the blood tests were done his blood was really strange, almost like jelly.
A week later on 6th August 2013 whilst me and my husband Lee were getting our heads around the epilepsy diagnosis, we received a phone call that Max had been diagnosed with a metabolic disorder and could we attend Sheffield Childrens Hospital on Friday 9th August, and to bring Xander too as he may also have the same disease. It was then that we met our Doctor, Professor Yap, and our metabolic team, and everything was explained to us.
I found it really hard to understand the science but decided to concentrate on what the dieticians were telling me: that we had something that could potentially make things better for the boys - the low protein diet. And if I could make a difference for them by producing delicious food that they would like, that’s what I would do.
It was a really hard time for us getting our heads around everything and it certainly has not been a straightforward journey. There have been many bumps in the road, mainly with Max, as he likes to throw us medical curveballs! Xander settled straight into the diet and drank his supplements straight away. Initially, Max did too, until everything settled down and he started spitting his epilepsy meds out and refused his supplement.
Max ended up having a gastro tube fitted into his stomach in June 2014, and although it was my worst nightmare and I felt like an absolute failure, it was the right thing to do and has helped him many times when he has been seriously ill.
Max has the additional complication of Lennox-Gastaut Syndrome, which is a rare epilepsy syndrome. When he hit puberty, his epilepsy was dire until March 2023; when he started on cannabis oil, and I have to say it has changed his life. He takes this alongside other epilepsy medications. Max is nonspeaking* and attends a special school. Xander attends a special speech and language school, which he has to travel to on a daily basis and it is over an hour away from where we live.
Before the boys were diagnosed, I had a gut feeling that it was something medical that was wrong – always trust your gut. Homocystinuria and epilepsy haven’t held us back; we have traveled, and we are going on a cruise with the boys this year.
My hope for the future is that an enzyme therapy is developed that will mean that people with HCU will be able to eat a normal diet, and I feel that that anything less than this is not worth it – both my boys have excellent control of their condition with the diet and don’t take betaine.
Always remember calories and hydration are key as well as hitting your protein target for the day. I can't believe that we are now nearly 11 years down the line, and I am so proud of us all because it hasn't been an easy ride.
Sophia shares a special note spreading awareness and advocacy to promote the use of term nonspeaking.
