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.
Thank you
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ChloeV
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You certainly have several things going on with your boy, but yes, it is great he is energetic as that will help you through this.
I think the questions you should as at the appointment next week are general ones such as 'what do you think this is' or similar. The specifics are the symptoms you should give them. Let them figure out what the most likely diagnoses is.
If by the end of the appointment they are making out that nothing is wrong then you could ask to have connective tissue disorders eliminated as some of them can be life threatening. That way you are not trying to tell them what you think it is because sometimes that can get their backs up.
Are you taking someone with you, like his father, your father, or similar? It is usually best to have both parents or at least another man at an appointment like this. First of all you will not remember everything they say in the appointment so two heads are better than one!
If you can take a list of all his treatments and appointments, maybe in a simple table with the date, the place and clinician, and just a few words about it. That way they can see what has been going on, and it can also help you if you can't remember or get confused. By all means take all your notes with you, but a summary sheet can be really useful and less scary to them than a pile of notes.
And it could be possible that the reason why you didn't get a diagnoses from GOSH is either they had a policy of not giving a diagnoses (there has been some evidence that some departments feel that giving a child a diagnoses might somehow make them disabled) or it might be that they really didn't know.
There is a lot of uncertainly in medicine, and there are many many (over 7000) rare diseases and there is also Hickam's dictum: Patients can have as many diseases as they damn well please! So when they can't give a diagnoses it doesn't always mean because they don't care, it might be that they really don't know.
Thanks for your response. Unfortunately we are dealing with other health issues in the family and it will be just me and my son at the appointment. Writing a summary is a good idea. It will probably be a bit overwhelming to see it all written down in one place, but a good record to have.
It is hard to be the advocate for someone else’s pain, especially your child... he is too young to effectively understand, locate/time and communicate his pain.
yeah, it is hard when they are so young. We mistook my son's pain to be in his ankles for a couple of years until he was 9 and suddenly blurted out, 'It's not my ankles that hurt, it is the bottom of my feet!' It is very hard to deal with that.
Is there anyone else you can take with you? A neighbour or friend?
Many of the issues you have described are indicative of EDS. it is really difficult to get a diagnosis as so many doctors are unaware of the symptoms of EDS. However, there is a private Hypermobility clinic at 16 Devonshire Street, London where the best person to see is Professor Rodney Grahame. He is a specialist in EDS and can diagnose patients shortly after meeting with them for the first time. He understands all the comorbid conditions related to EDS too and makes recommendations to other professionals in order to appropriately treat all issues. He is worth his weight in gold. Hope this helps. Good luck.
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20 years old and Am having a horrible time 
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