It’s been a tough week, Caitlyn was diagnosed with yet another medical problem, Narcolepsy. I thought I would list all of her stuff as she likes to call it. So, this is her stuff with brief explanations.
- Complex Chromosomal Abnormalities – She has a deletion on chromosome 2, she has a translocation of chromosome 2 onto chromosome 3 and she has an inversion also on chromosome 2, which basically means it’s upside down. Phew. This complex set of abnormalities hasn’t been seen before in medical journals. So we have no way of knowing what long term problems there are, but this could explain a lot of her current problems.
- Learning Difficulties – So yes, this could be related to above or it could be related to her autism. I don’t think it matters really one way or the other. She is running about 5 years behind mentally and academically.
- Autism – Thankfully only moderately.
- Dyspraxia – Things like riding a bike, being able to stand to dress her self etc are huge problems as are fine motor skills.
- Allergies – She has quite sever allergies to nuts, almonds being the worst. She carries eip-pens
- Asthma – She has never outgrown it, but learnt to control it pretty well.
- Bowel Problem – She gets bunged up a lot. I won’t go into detail but takes movicol for it.
- Epilepsy – Right temporal lobe with a tendency to generalise
- Narcolepsy – Right now, we don’t know much or what the future holds but we will cope as we always do.
- Cataplexy – Goes hand in hand with narcolepsy. When she laughs she often loses control of her muscles and falls to the floor. I often thought she was faking it till she almost drowned in Spain a few years ago.
Honestly, right now my head is all over the place. It’s a lot to take in. I have known about the last 2 problems for over 4 years and I’ve had to fight my case. They discovered her epilepsy and stopped looking and blamed everything on it. Her tiredness they said was related to the drugs she is taking. But I knew it was more than that. And finally at long last we’re on the right track. I have no idea what the future holds, whether she will be able to live alone or what her long term prospects are. But right now the only thing that matters is her. She is is amazing. I love her so much, I admire the way she copes, how she just accepts all of her problems. I just wish I was so accepting. It’s not bloody fair.