Monday, 14 January 2013
Conradi Hunermann Syndrome
Tula was finally diagnosed last year with Conradi Hunermann Syndrome.
You can read all about it here. It's a rare genetic disorder which mainly affects females and was probably passed on by me even though I have no symptoms, or it may have started spontaneously with Tula. We are very lucky to have had such lovely healthy girls so far: if we had conceived a boy in all likelihood he would not have made it full-term: males with this condition are extremely rare and usually very disabled by it.
Luckily she has a very mild form of it and will, as far as we can tell at the moment, be able to live a normal life.
We are going to see a physiotherapist tomorrow to work on her movements to help encourage her to make some progress with her motor skills, as she is slightly slow.
In the past couple of months Tula has suffered quite badly from heavy colds which have meant many sleepless nights for us both as she has had such difficulty breathing. Also a rather horrible stomach bug, but thankfully, she seems to have finally shaken everything off at last, and after a brief but worrying dip in her feeding is now making good progress with solids and is back to her normal, sunny self!
Another recurring problem for her is her eyes; she frequently wakes with her eyelids completely stuck together. I have been cleaning them with boiled water morning and evening, but it's been very traumatic for both of us as she has developed a particular hatred of this routine and screams in anticipation of me touching her eyes. I was using chloramphenicol eye drops, but they didn't seem to have too great an effect.
A friend of mine recently told me that parents of disabled children often go through a 'grieving' stage where they mourn the loss of the perfect baby they had envisaged through their/their partner's pregnancy, and I think I am finally emerging from some of that sadness, which up until now I hadn't properly recognised the cause of.
Tula will never be completely 'normal' (like such a thing exists anyway) but she is such a funny and charismatic little girl I think she will have a long and happy life.