Are there any knowledgable geneticists out there ?

[Origamiheaven]

My youngest ds has a very rare genetic condition. A single gene disorder that has only several hundred cases in the world. I am struggling to come to terms with this and there is one thing that I am obsessing about to the point where it is ruling my head ALL the time to the point I cannot function properly. Myself and my dh have been tested for this gene mutation and neither of us have this so my sons mutation occurred de novo. The thing is I was taking antibiotics when he was conceived. Although they are deemed safe to take in pregnancy I have this belief that it was these that caused the problem. Please can any one help me with this. The guilt I feel is over whelming. I would do anything to turn the clock back and not have taken the medication.

If you speak to the doctors who are caring for your son I've no doubt they will reassure you. There is no evidence that antibiotics can cause gene defects and thousands of women take them in pregnancy. If antibiotics are not given for a urinary infection for instance, a miscarriage might result, so they are only given if really necessary.

Feeling guilty is a totally normal reaction when you have a disabled child for many women unfortunately but they are only rarely justified. It's just something that happens and counselling can help get rid of these unjustified feelings.

It's also to do with acceptance and if you can contact other parents in the same position as yourselves you should be able to work towards peace of mind. The SN topic on MN might help you find other people.

You are also in shock at the moment but it will get better with time, try to talk to other parents and organisations and to family.

I know nothing about genetics, but I know about guilt.

My DS has autism...every few years a new study comes out suggesting yet another cause, not taking the right vitamins, weight and age of mother, not enough skin to skin after birth and of course vaccinations.

You have to go to yourself - I did everything right as far as I knew at the time.

Even if your son's condition was caused by antibiotics (which seems unlikely to me, though as I said, I know nothing) it still wouldn't be your fault.

I can't offer much knowledge about any of this, and I can't imagine how hard it is for you. Reassurance that you didn't cause this must be hard to believe, but it is true.

Have you been in touch with Genetic Alliance? AFAIK, they offer family support, which you may find useful. Rare Disease Day is also coming up (28th Feb) and there may be something on near you where you could meet up with others in situations that aren't dissimilar.

I hope you get some real life support to help you through this.

I have a daughter with a de novo genetic issue too. Like you I wondered how and why it had happened, analysed everything and felt that somehow I had to blame myself. Eventually after going around in circles in my head for several months I reached the conclusion that actually I wouldn't ever know, that the realistic chance was that I hadn't caused this in any way (and same for DH) and that was just a chance genetic issue. Try not to look to blame but instead focus on your DS and who he is. It does get a bit easier in time to accept that it has happened - you don't have to like it of course, but I guess it just "is" as time goes by. Most importantly he has a loving family who clearly care about him and will do the best they can for him whatever life may throw at you all in this. Love is something you can choose and can always have for him and in this respect he will be luckier than some children out there. Be kind to yourself and remember you never set out to cause any harm here, you must not blame yourself.