Posted by windsong on October 26, 2004 at 05:51:05:

Hello to everyone,
Its been a while since I have posted ,have had a lot of stuff to take on board lately.
I thought it was about time I came and gave an update to those of you interested

My little boy was 9 the other day and things don't seem to be getting easier - after the blurry eye problem (still present a month later)we took him to our local hospital as requested by his nurse. The doctor said that because an optician had said his eyesight was fine he thought there was no problem, he didn't look into a medical cause at all and dismissed my thought that it could be hypoxia or hypercapnia (something that is a problem with him) as I know that both can cause blurred vision.

He then shocked me by telling me that my son has a heart murmur, which is a new thing, this comes a few months after a continual problem with chest pain with exercise. He was diagnosed with asthma a few months ago as the cause of chest pain and has always had trouble with exercise tolerance but never wheezes or anything. So far the inhalers have failed to have any significant effect.

This doctor said that he needed to be seen by a cardiologist and have an echocardiogram because OSA patients have danger of heart damage, but becuase of some rule saying that patients need to have a named consultant (and my son doesn't have one)he couldn't do anything. We have been going to our local hospital when the community nurse sends us without having a named consultant for the past 5 years since he is seeing consultants in 2 London hospitals who are specialists, there has never been a problem with this - now this pig of a doctor decides that he wouldn't treat my son since he doesn't have a consultants name. He agreed however to refer him to opthalmologist and request to his Dr in London to refer to cardiologist.

Then a week later his community nurse called and said they would not be referring him to opthalmologist and furthermore every consultant , sho and registrar has decided that they will refuse to see my son (even in emergency) unless he gets a named consultant. For this we need a GP referral which will take minimum of 3 months. A letter has not been written requesting cardiology referral either. So not only does he have blurred vision and heart murmur with no-one looking into it but he also is left for 3 months, through the winter period with no local access to medical care. The hospitals in London are 2-3 hours away from us.

We complained since this isn't the first thing they have done to us and we got an apology for their behaviour and the promise of an internal referral to be made to a consultant. The apology isn't enough really and all this is the final straw in a long line of things so will be taking it further.

I'm still furious that they could treat a child like this, I think its highly irresponsible to leave a child who is ventilated and fully tube fed and has unresolved chest pain and now heart murmur with no medical care nearer than 2/3 hours.

Aside from all that the genetitist called and said that he had found a link between severe reflux and OSA. He thinks that my 4 boys all have a genetic disorder and that I also have this. Futher referrals and tests and research needs o be done but we are slowly finding answers it seems - even if they are not the ones I want to hear. He said its a dominant type of inheritance and thinks it may be a rare disorder of the autonomic nervous system. Obviously the apnea is a part of this genetic syndrome (I am going to psot separately about this on another thread)

Unfortunately it seems that my unborn baby is likely to have this genetic disorder whether a boy or girl. Very upsetting as we thought having had all boys affected a girl may escape (if it is a girl, don't know yet!) I didn't realise that I also was affected.
Does anyone else here have severe reflux (severe enough to need a nissens fundoplication) in several members of their family AND apnea requiring CPAP treatment in several members AND non verbal learning disorders, dyslexia, autism etc AND raynauds disease or other autoimmune disorders ?
The genetitist has said that the combination of disorders that my children manifest is unusual and rare, so much so that he was initially completely at a loss for ideas of what genetic disorder it could be.

Would be interested to hear of anyone with similar problems or anyone that has definate diagnosis of a genetical disorder that has caused their OSA....

Follow Ups:

• Re: Update on my little boy SleepyTimeGal 09:55 10/26/04 (1)
  • Re: Update on my little boy windsong 07:16 10/29/04 (0)

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