My son Alex

I am Diana and I have an 11 year old son called Alex. My son has a lot of symptoms that overlap Loeys-Dietz syndrome, Marfan syndrome and Ehlers-Danlos vascular syndrome. I have been told I have EDS IV even though the DNA test was negative for the condition. My skin biopsy came positive but it was not EDS IV. I was told that i look like i have EDS so i must have it and because my son's symptoms were so strong i was advised not to have any more children. Alex body shape has all the features of Marfan syndrome but is skin is very thin and all his veins show through and bruises and scars badly with poor wound healing.  Also some of Alex's joints are very loose.  Just like EDS IV. Alex was 4 weeks premature when he was born and I was told some children are just born thin and veiny there is nothing to worry about. He has a cleft lip and a bilateral cleft pallet with a split uvula.  He has large almond shaped wide-set eyes with a small pinched nose. Alex's head is small like a slight early fusion of the skull bones with a small face with a little mouth and thin lips and a distinctive shaped small bottom jaw line.  A high arched palate and crowded teeth (which all are family has).  Small paper-thin ears that slightly stick out and lean backwards.  His arms are not too long but he has long, thin veiny hands and fingers.  The legs are very thin, long with all the veins show through, and has long thin bony feet with short, claw toes and mild club feet. Has a sunken chest with veins showing through.  Alex's heart is fine and there are no vascular problems.  At 6 weeks old Alex had a pyloric stenosis operation and was always failing to thrive and spent a lot of time in hospital after the operation.  At 12 week old I noticed his breathing was very shallow I took him back to hospital and a day later his lung collapsed. I was told the lining in the lung was unusually thin and fragile. His skin is thin with no body fat lining the skin, with loose joints.  At 5 year old Alex had a hernia operation.  Has severe dyspraxia, speech and language and learning problems and development delay.  Alex is now 11 years old and he still has limited speech and severe learning difficulties.  And goes to a special school.   I have been in contact with Dr Dietz and Dr Loeys;  I sent them all of Alex's medical records and they said he did not have LDS because of his cleft lip and good vascular structure but every thing else matched.  EDS IV highly suggestive but not 100% but then I was told that cleft lip and palate and pyloric stenosis did not go with EDS IV. And Prof Howard Bird is the only Dr. that believes Alex has something very unique but his hands are tied up in the system.  And nobody wants to get to involved as it costs to much money.  Which is a crying shame.  Another Dr. I have seen told me that Alex's cleft lip and palate and learning problems were a red herring and nothing to do with any condition.  It is just one of those things which was extremely frustrating when I have to see narrow minded Dr's that have not even heard of any of these conditions.  Alex is my only child and I love him so much and I will do everything I can to find out what is really going on with Alex.