The story of Louise
Dafydd was a happy smiley baby and despite a difficult birth (2 weeks early born by emergency C-section) he had no obvious problems. He developed normally and although we thought he was a bit slow with some things, and was a good sleeper, we had no idea anything was wrong. Until Dafydd got to about 10 months old.Â
Dafydd was starting to move around he could roll, push himself up on to all fours, sit up, hold his head up, grab toys, move toys between his hands, eat finger food, point at what he wanted and drink from a bottle. From the start of July 2019 he began to regress and lose skills. He became ‘floppy’, could no longer sit up to feed, could no longer feed himself finger food and had no strength in his muscles or had very stiff movements (which he had always had). He began to lose weight and was sleeping for very long periods of time.
Initially the Health Visitor said it was probably nothing serious and to book a ‘non-urgent’ appointment with the GP. A week later, when we visited the GP, Dafydd had deteriorated further and the GP was so worried she sent us straight to Glangwilli Hospital for initial tests. From there he was sent to Noah’s Ark Children’s Hospital in Cardiff for further testing under the neurological team. He stayed for almost 2 weeks. He had every test we could possibly imagine. MRI, CT Scans, lumber puncture, bloods, sleep scan, developmental tests, physiotherapy, Speech and Language Therapy. Every test came back negative.
Dafydd had to be fed through a naso-gastric tube as he could not hold his head up to eat. Initially they told us we would not be sent home without a diagnosis. However it looked like a diagnosis would not be forthcoming so the last test was a genetic test and we were sent home. The test had only been used at Cardiff for a few months and they warned us it could take a while for results to come back. The results came back sooner than we thought the diagnosis was Dopa Responsive Dystonia. A genetic disorder that he had inherited from us (his parents). Both of us have passed on a faulty gene meaning his body cannot produce the chemical that sends messages from his brain to his muscles. Luckily we were told that there was medicine that could help. Dafydd has been on his L-Dopa medicine for about 5 months and he is regaining some of his skills and movements. Â We were warned there would be a 1 in 4 chance of another baby having DRD but as Dafydd was born through IVF that will not be an issue.
Dafydd’s Dad has had to give up work to care for him as his feeding, medicine, and appointment regime is quite complicated. We know we are very lucky as his condition is treatable with medicine, and we got a quick diagnosis, but our fear is for Dafydd’s future as cases in children his age are rare. Worldwide cases (all ages) are estimated 1 in a million/ 1 in 2 million. Doctors are unsure how his development may progress, and the level of care he will need going forward. We are very concerned about his long term physical development but also his social and emotional development. He has a huge team looking after him from his specialist in Cardiff to local physiotherapy, SALT and play specialists.