I’m coming to this group with a bit of a wildcard request for help regarding my son with no current diagnosis. Any insight would be greatly appreciated. We are due to see a private paediatrician specialised in rheumatology. I think he may have EDS and would like some help on which questions to ask and what to look out for.
Apologies for long explanation, I’m not sure what is/isn’t relevant:
My son is 4. He was born with two club feet which we treated with Ponseti. They then noticed he was low tone and hyper-mobile at 6 months. He had reflux and was severely allergic to dairy (hospitalised etc). He was closely observed by Great Ormond and they suspected myasthenia. His genetic testing did not show any version of myasthenia currently tested.
By 2yrs old they had done a series of EEG showing some affected areas on one side of his face, throat and neck. He otherwise hit all of his milestones without issue. His general health was good apart from sleeping more than other babies.
He also has two eye conditions on his “bad” side. These have now been diagnosed as 4nerve palsy and eyelid ptosis. This all makes him tilt his head constantly. The physio fears she can spot a slight twist in his spine.
His low tone has required sporadic physio and he still gets sudden bouts of tiredness. He also complains of sudden pains in his lower limb joints. The club foot physio is very good and does not think he pain in his hips and knees are in line with the talipes.
He is a very energetic little boy who is very strong overall, but he has some localised weaknesses (mainly in his core). His posture at rest is completely slumped. On most days he will play lying down completely, resting his head down etc. for 15-20minutes at a time and then be ok to move around again.
We have been discharged by GOSH as they can not give us a diagnosis and we “were lucky to have such a healthy little boy”. Obviously we are lucky that he is ok, but he is affected by the tiredness and pain. This is now more affecting that he is at school and needs to sit nicely all day. The excel uses needed for the spine issue is also problematic as he can not do them due to hip pain.
Does any of this sound like EDS or something else? What should we ask, say and look for when we see the rheumatologist paediatrician next week? All feedback welcome. Negotiating all this through 8 consultants, 4 different hospitals, an inconsistent GP surgery and no overall co-ordinating doctor is a bit of a strain.