Thanks to Charlotte Older who sent us in this lovely Q&A style article about this adorable little chap, Henry, who was diagnosed with Methylmalonic Acidaemia (MMA).
Who do you know who has an inherited metabolic disease?
Henry was born June 2015 and 4 days later he suffered his first ‘metabolic crisis’. We were transferred from Leeds to Manchester and were told Henry had inherited MMA, a rare metabolic condition.
What do you know about the disease/what’s life like?
We didn’t know anything about MMA and were given a booklet which gave us the basics. The dieticians and doctors advised Henry would need to be on a special diet and medication for the rest of his life. They said he might not have an appetite and so would need tube feeding; his muscle tone would be very weak; and owing to the crisis he would likely experience developmental delays.
At 8 months old Henry has a good appetite and eats everything orally with no need for a tube. He is very strong and loves sitting up unaided, standing holding our hands, and is trying to crawl! He is also chatting away and meeting developmental milestones. In all intensive purposes he is a very happy and healthy baby boy, subject to a low protein diet and daily medication.
We are still very anxious about what the future holds for Henry and have regular checkups with the metabolic doctors. We are also in discussions around liver and kidney transplants to give Henry his best chance.
How did you get in touch with Climb?
The doctors at the Royal Manchester Children’s Hospital put us in contact with CLIMB. Our parents were the first to contact CLIMB while we focused on getting Henry out of the hospital. Then once we were home I contacted CLIMB personally for more information and a friendly voice to talk to. Julie Kempster is our main contact and has been a stalwart pillar in our journey with Henry. It is very reassuring to know we are not the only family living with MMA and that we have a good support network around us.