Homocystinuria: Arthur’s Story

Through the Newborn Screening Test, Arthur was diagnosed with Homocystinuria (also known as HCU) a couple of weeks after he was born.

 

“My son, Arthur, is 11 weeks old and he was diagnosed with Homocystinuria at two weeks old following his heel prick test that they do at five days old.

 

Having Homocystinuria (HCU) means that his body can’t break down the amino acid methionine – causing a build-up of methionine and another substance called homocysteine in his blood and urine. These can be very harmful and cause a lot of problems whilst growing up but if diagnosed and treated early, most children are able to live healthy lives. However, the treatment has to continue for life.

 

My reaction when I got the phone call was, as you can imagine, shock. I had never heard of Homocystinuria and I didn’t understand anything that the consultant was saying on the phone. I just kept asking him if Arthur was okay and if I needed to take him to hospital. He calmly told me that I needed to come and do some more tests the next day and that we would talk from there. I was so upset and kept crying and googling stuff (the worst stories are always on Google!).

 

After seeing the team (consultant, metabolic specialist nurse and dietician) at the children’s hospital and spending a good couple of hours there, I felt a lot better. They explained that the condition is diet controlled and that if we start now at a young age, he would be fine. I was still upset because you don’t want anything to be wrong with your baby and for them to have a special diet and medication for the rest of his life but now that I have more knowledge on the disorder and know that I have support from the metabolic team, my family and some families that I have reached out to with children with the same/similar thing, I know that he will be absolutely fine and I am reassured.

 

My advice would be never to google stories because 99% of the time, the internet is full of the bad and scary stories. Try to take some time out to gather your thoughts, as it is a lot of information to take in. You’re not going to remember/know everything in one day. You grow and learn with your child and they won’t know any difference so long as they have all your love and support throughout their life!”

 

Thank you for sharing your experience and helping other families coming to terms with their diagnosis. If you would like to share your story and help other families processing their diagnosis, please email Maggie on margaret@metabolicsupportuk.org

If you would like any support with your condition, including connecting with others with your disorder, please contact us on contact@metabolicsupportuk.org