Caitlyn and her stuff

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.

6 thoughts on “Caitlyn and her stuff

  1. Samantha Bourne says:

    Caitlyn is an amazing young lady,
    such a lovely person and I am so pleased to have met her. I cannot imagine how unfair all of this feels but you all have an amazing strength. One things is for sure and that is you knew something else was at play and fought for those investigations. All credit to you lovely xx

    Like

  2. Sarah Young says:

    That’s a lot for one person (and one family!) to cope with. My daughter has epilepsy (mostly complex partials), disordered sleep and has recently developed scoliosis. I am concerned that she will develop narcolepsy, as I have scoliosis + narcolepsy and she seems to be following in my phenotypic foot steps. She also has learning difficulties, though thankfully nothing too severe.

    How did you get genetic testing done? Ie, did you have to push for it?

    For years they denied anything was even wrong with us (repeatedly referring me to mental health / ignoring my efforts to explain my sleep problems, and say Lily as a 5-year-old was pretending to have 40-minute long seizures where she literally could not do anything except sit and sometimes moan). I am now working to convince medical staff that this third-generation disorder warrants genetic investigation, as this likely affects other family members and their decisions around family planning. But the New Zealand medical system, as we have encountered it, seems reluctant. Mostly because they don’t want to acknowledge any of the problems, and when they do they see them only in isolation.

    Having concerns being dismissed is just so incredibly frustrating.

    Like

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