So there it is, after 4 and a half years of fighting his diagnosis it was finally written down in black and white!
Congenital Myopathy!
More specifically he has a mutation and deletion to his titin gene.
The only person world wide to be documented with the mutation and deletion he has, Our baby is literally one of a kind.
What does that mean? haha, well they can tell us an educated guess based on what other people with titin gene abnormalities have but they cant tell us exactly what to expect. From our understanding the titin gene is in charge of muscle stuff haha, his muscles don't engage, grow and contract as they are meant to. So all his joints over extend because the muscles around them don't help support them, that's why he has trouble holding his head up at times and why his legs or arms will randomly give out because he muscles are weak and will release. The reason everything has been delayed as far as his mobility goes is because they develop and strengthen at a much slower rate.
The choking and refusing to eat wasn't because he wasn't hungry or behavioural it was because the muscles in his throat were too tired to swallow, the constant falling when walking wasn't because he would lose concentration it was because his muscles would give out, his super quiet crying as a newborn wasn't because he was a chill baby it was because the muscles were under developed so he physically couldn't cry any louder, the sleepy newborn wasn't because of our amazing parenting but because his fatigue levels are so high, the constantly being sick wasn't because we were around to many viral bugs it was because he couldn't cough the flem out to help get better so it would sit in his chest. These are just a few things we realised.
What does this mean for Rhys? Well no one really knows. Realistically his muscles will reach a point where they cant strengthen anymore so it will be key to help him maintain what muscles he does have for his independence. We have been told it's likely he will become wheelchair bound as his muscles won't be able to keep up with the weight of a healthy young male and the speed he will grow. He is at high risk of several things but the most concerning are Cardiomyopathy, which is weakening of the heart muscle. Scoliosis, which is curvature of the spine and Lung issues because of muscle weakness.
