It's late (for me) I've been in bed for hours, in fact I went to bed before my son. I was exhausted. The emotional drain is having it's physical impact. I'm sure my husband is thrilled when I take myself off to bed a 6.30pm and leave him alone for the evening. Anyway, I've woken up and come downstairs to make a cup of tea and thought I would try and get down what has happened to get me so worked up again.
I spent all weekend researching Vascular Ehlers Danlos Syndrome (Apparently, vascular is it's preferred name nowadays, rather than type IV) and writing down everything I found, that I felt would be useful in a talk with the genetic counsellor when I called her. I wanted to be informed, know my facts and have some kind of leg to stand on when asking for someone else to look at my son. I also wrote down all the information I could about my son that I thought, again, could be relevant and back up my argument for another assessment.
I found research by the Mayo clinic, in 2007, that stated in only 30% of cases, did patients present with the "typical" look and yet, the Dr seeing my son, completely discounted him on this fact alone, that he didn't "look" as though he had vascular type EDS.
I also found research on the National Centre for Biotechnology Information which is a recognised dot gov site, relating to capillary fragility ~
"Easy bruising is, to a variable degree, present in all subtypes of EDS, and is because of fragility of the capillaries and the perivascular connective tissues. Vascular fragility affecting medium-sized and large arteries and veins is typically observed in the vascular subtype of EDS, caused by a molecular defect in collagen type III, an important constituent of blood vessel walls and hollow organs."
and yet, my son's capillary fragility had, again, been discarded as not relevant.
As far as my lists and notes in relation to my son, he has easy bruising/capillary fragility, some hypermobility, translucent skin (where you can see his veins through his chest), limb pain in his legs and a lot of tummy pain and nausea.
After making my lists I was adamant I had enough to warrant his being seen again, by someone that knew what they were doing. I was armed and I was a bloody angry worked up parent.
In this worked up state and with my pages of notes in hand, I called the hospital and requested to speak with the genetic counsellor whom had been present. She wasn't in and would return my call the following day. Wasn't it?? I'd got lists!
I spent all of yesterday at work, clock watching, checking my lists and looking at the clock some more, until eventually about 1.30pm she called.
I started by telling her I wasn't happy with how the appointment went last Wednesday, pointing out that the Doctor had asked for her opinion several times and had at one point stated that she, the counsellor, knew more about the topic in hand that she did and this bothered me, because if the Doctor didn't have confidence in her own ability, then how was I to have confidence in her.
I went on to admit I had written notes and apologised if I was stilted as I talked. I discussed all the above and then went on to say that in relation to the Doctor dismissing his fragile capillaries, two other Doctors in my son's short six year life, had put the fragility down to collagen. The consultant paediatrician that had referred him and a dermatologist had mentioned it several years ago.
I don't think I had to try so hard, to have made so many notes, as the counsellor had already spoken with the consultant in the specialist EDS clinic, who was "more than happy to see him" She had spoken about him to the consultant on the simple facts she already knew about him after being informed I had called and wanted to talk with her. Without knowing my concerns, the consultant had enough information from the counsellor to say she would see him in the specialist clinic.
The disorder is little known about and there are only two clinics in the UK that specialise in EDS and are the national clinics. One is in Great Ormond Street Hospital and the other in Sheffield Children's Hospital, and now, finally, my little boy was going to get a proper assessment by people who understand the disorder.
The counsellor was lovely with me. She had listened intently as I rambled and appeared to understand. She said my little man would probably have a biopsy, which is the test for vascular EDS. This scares me as he will be distraught, he hates Doctors and hospitals as I keep taking him since he was a baby, so he gets all quiet and upset when he has to go. I won't tell him he's going back to a hospital until maybe the day before and I certainly won't tell him about the biopsy.
The scary bit about all this is that we now have an appointment for next Wednesday 1st September.
I'm scared again now EDS is back on the table, of the type they will test him for, but so glad I was taken seriously.
So now I'm being stressful me, unfocussed, tired, and trying to get through until Wednesday, where I know I will be talked to, explained to and treated like an anxious mum who deserves to know what decisions are being made and why.