My nine year old son

hi my nine year old son has just found out after a nine year battle with doctors that, he has gorlin syndrome. I am still waiting to find out if i have it.My sons body is deforming more and more,He has bifid ribs,spina bifida, fused vertabras,fluid on the brain,laxy muscles and epilepsy.but more and more he's behaviour is changing, he just doesn't seem the same child he was, just lately. I am having him tested for autism, but i miss the bubbly child i had before.I just wonder if there is anyone out there with the same problem or someone who has advice for me.

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  • hi, sorry to here about yours son, it's very sad. my nine year old daughter isnt as bad as your son, gorlins syndrome is different in all children. my daughter megan is covered in basal cell carcinomas which she is recieving treatment for. she had operations last year on her jaw cists and is now clear of them but still needs monitoring for the next ten years, she has significant frontal bossing and has a larger head than me but she has not got any brain issues in fact she is very bright. she hasnt been xrayed for bifid ribs or fused vertabrae and i'm not sure if i want her to be, it's alot to cope with. funny you should say about autism my daughter is borderline and has diagnosed dyspraxia. like yourselves it has taken years to get an accurate diagnosis but eventually we got there. my daughter has now under all the speciality consultants pertaining to her specific problems and this is all we can ask for.

    i cant give you any advice but knowing others are in a similar situation can often help give support to you. i emailed margaret costello who is the founder of the gorlins syndrome site along with her late husband and she has been very supportive.

    gorlins syndrome started off as a rogue gene in my daughter, myself and my wife were tested and have not got the gene that caused it, the odds on winning th lottery were less than my daughter getting gorlins syndrome but she has it and we have to deal with it, we thank our lucky stars that she is the way she is it could have been worse and she is beautiful and we love her just like you love yours. the thing is, we must be there for her and support her because in the end it will be her problem regarding fertility, skin cancer and everything else that she will get.

    if you ever need a chat just email me on pablo220@hotmail.co.uk. i will be more than happy to give you a shoulder to cry on etc.... take care and all the best.

  • Hi,Charlie03. I have empathy for the situation you are in. I will pray and keep in my thoughts and living fairly close to you, tender my support in what ever way I can,even if it is only over the phone or by blog. I am one of four in a family of nine,plus two near relatives to have the Gorlins with varying degrees of the syndrome, but none to the severity of your son.

    For myself I have been very fortunate to have had an excellent line of medical support. First it is essential to have a good G.P with a knowledge of the conditions afflicting your son,gorlins,The doctors training these days does not cater for any in depth training in genetics etc through no fault of their own, and also to the availability referrals which are at hand today.To have gone nine years before reaching a diagnosis is mind boggling. My line of support as been very good dermatologists along with excellent plastic surgeons and latterly maxilofacial clinic. But the most effective for you would be a ref ferral to the Genetics Dept either through G.P or Dermatologist, where you will get advice and support to help you to cope, along with the Gorlin support groups and friends. It is a long journey you will have to travel which you do not have travel on your own. I did not know the proper diagnosis until I came back to this country, but I,m learning as much as I can from the internet. I know it is easy for me to say now, but I have learned to cope with Gorlins by been at peace within myself, knowing that I have to continue with the treatments, and pray and hope in the future there may be some form of cure, not for me, but those who have their life to live, like your boy. With that I will close,as when my thoughts dry up I know that for now I have said enough. I pray sincerely That God will protect, sustain and direct you and all your family through every day of your life and as with the previous supporter my email is gwharrison2aust@ntlworld.com.

  • Some good advice for this post. Diagnosis is vital for suibsequent surveillance for complications associated to the condition and for giving genetic information. Families should be offered regular screening, ideally with one clincian or a genetic department monitoring and co-ordinating care. A referral to a genetic centre is usually made through a GP. However, if you or a family member have previously been seen in a Clinical Genetics Unit it may be possible to contact them directly as a self referral if further questions or concerns arise. Take advantage too of this area, we also have a page on Facebook with can be accessed by following this link facebook.com/groups/1272325... and don't forget to check in at gorlingroup.org for all the latest information. Best wishes.

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