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.

10 comments:

  1. Thank you so much for sharing your story. i have always wanted to have more info on Conradi Hunerman syndrome but there isn't much to search. I had 2 sons with this syndrome. they were my blessing and my whole heart. i was fortunate enough to have them for a short while until they passed. I love to hear others stories and was so grateful to come across yours. your daughter is beautiful and i wish you the best. thank you for your story and sharing it .

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  2. I'm so glad to hear from you! I haven't updated this blog for a long time as I'm pregnant with my 4th daughter and finding it hard enough just coping with that. I'm so touched by your story as I know how rare it is for boys to even make it full term. My girl is now 18 months and doing really well but her scoliosis is getting rapidly worse. I will make an effort to get back here as soon as possible! All the best x

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  3. Thank you for sharing your daughter is absolutely precious !! I have 2 girls with CHS for the most part they are living a normal healthy life my eldest is 12 she will need spinal surgery later this year to correct a curvature (kyphosis) she also has severe scaling of the skin since birth but neurologically she is perfectly fine my youngest is turning 8 she was born with shortening of all the long bones on her right side only and has already undergone extensive bone lengthening surgeries. It's been a roller coaster of emotions since their birth understanding this condition and where did it come from I am currently 8 weeks pregnant and to say I'm not totally freaked out would be a complete under statement I fully understand the risks involved if this was to be a boy I was blessed with a perfectly healthy boy born in the middle of my girls Im praying God will have mercy on me and let this pregnancy go through. My very first pregnancy resulted in s still birth at 38 weeks it was a boy we don't know if his death had anything to do with CHS as they found 2 true knots in the cord on delivery. I wish you all the best and am so thankful there are other families out there who understand how difficult it is dealing with this rare genetic disorder xxx

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    1. Hi. Would you be able to email correspond? ' My four month was diagnosed at 2 weeks old with CHS. Any advice would be great.

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  4. Hello,

    My name is Dorsa. I am an intern with Rare Genomics Institute and RareShare this summer. We are helping research information on rare disease and I am looking to interview experts/patients about different diseases to help patients with these diseases.

    I am working on disease CHS. I'd really appreciate it if you could share your experience with us through a phone interview.
    The interview should take no longer than 30 minutes and we will send you the interview questions beforehand.
    Please contact me at n_dorsakord@yahoo.com and let me know if you’re interested.

    Best,
    Dorsa

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  5. Hello! My daughter as well as myself were both diagnosed with Conradi Hunermann in 2014. Mine is very mild,but my daughter has cataracts and both her right humerus and femor bones are short. It's looking like we may need to consider leg lengthing surgery in the future. She is now 2 1/2 and doing great. I'd love to hear more about your experience. Please feel free to email me at jessij3 (at) Hotmail.(com)
    Thanks!

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    1. Jess, I'm so glad that you have got in touch and I'm very happy to write to you about Tula. An email is on it's way! x Chloe

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  6. Hello! I was just diagnosed with CHS and so was my daughter who is almost 4 months old.

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    Replies
    1. Hi! Please contact me at chloe grice at y mail dot com. I am more than happy to talk to you about CHS and give you all the support you need. It's scary if you have no idea what you may have to go through with it. Very best wishes to you and your daughter and I look forward to talking to you xxx

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