More than seven months after a consultant told teengirl she was hypermobile and had Ehlers-Danlos Syndrome we finally got back to see him.
I had my notepad filled with questions but he refused to answer any of them because it was only a ‘ten minute appointment’ and he didn’t have time.
In fact he would not allow me to tell him about teengirl’s chest pains because there wasn’t ‘enough time’ to discuss it.
So I made the quick decision to get as much out of him in the short space of time we had and pushed for:
- a referal to a geneticist
- a brain scan
“Why do you need to see a geneticist when there is no cure for EDS vascular or otherwise?” teengirl’s paediatric consultant asked.
Horrified but not surprised I told him that if teengirl has vascular Ehlers Danlos Syndrome it could kill her. And as she’s already suffered a brain haemorrhage it’s looking likely that it’s vEDS. Adding: “I’d like to know so I can advise teengirl on how best to look after herself to hopefully prolong her life and we’d like more information on how to manage her condition if it is vEDS again to help us prolong her life.”
The backwards and forwards of this went on for at least 8 of our precious ten minutes until I finally got him to very reluctantly agree to refer her.
Then we moved on to what may be epilepsy or mini strokes: episodes of absence, uncontrollable sudden shaking hand and tapping fingers that can last more than two hours.
He grilled us and I mean grilled us on these. At one point he demanded to know why I hadn’t seen many of them. I had to restrain myself and force a normal tone into my voice when I said: “Because I’m at work until late and teengirl’s studying for GCSE’s so we don’t spend that much time together.”
He then made teengirl feel stupid when he asked about the most recent shaking/tapping episode. Teengirl said the last one had only been short as it just lasted about 20 minutes.
He looked at her and with scorn in his voice said: “Twenty minutes is not a short time.”
But he did refer her. Just two days after we saw him teengirl got a referral to Young Epilepsy for a sleeping EEG and we’ve just had confirmation she’ll get a brain MRI soon as well as a referral to a geneticist for a ‘discussion’.
When we left the consulting room teengirl burst into tears. She had no idea it would be this hard to get help, advice and referrals. She went in there that day expecting help to be readily available, to be offered even. And instead she had to watch me go into battle for her.
Through all this past year teengirl has been a rock. She has coped with every little thing that this chronic illness has thrown at her without tears. Every day she stoically faces the fear that she may have a disorder that might kill her sooner rather than later and every day she wakes up in pain and remembers that she has a debilitating chronic illness that means constant pain for the rest of her life, a walking stick already and perhaps a wheelchair in her very near future.
Every single day teengirl faces and meets each new challenge that EDS brings her but that day in that consultant’s room he belittled her, he made her feel like she wasn’t important and he made her feel worthless. He made her cry. And he had no right to do that when she is going through enough already.
My child has an incurable and invisible genetic disorder through no fault of hers. She will be in pain for the rest of her life. Why do we have to fight to get help?
I feel like I’ve spent teengirl’s whole life fighting with doctor’s about and for her health. It should be easier than this. I know it’s never going to be simple but I would like not to have to get dressed in my battle gear before we visit any doctor, to not have to steel myself in readiness for the fight. I would like to just be able to have the expectation that what she needs will be made available to her to help her live her life to its fullest.
I’m not under any illusions I know teengirl is just a number, a figure on a budget sheet and a body to be poked, prodded and pushed back out the door.
But what they forget is that she is my child and I will not give up. So don’t bother wasting our precious consultation time arguing with me.
Please just listen to me and my child.
FYI – vEDS is a genetic condition caused by an alteration or mutation in gene COL3A1. When this gene is altered it causes a lack or deficiently of collagen type III. This leads to less effective connective tissue particularly in blood vessels, hollow organs and the skin.
People with vEDS have fragile blood vessels, this can lead to major complications including rupture of blood vessels. There is also a risk of damage to hollow organs, such as bowel perforation or uterine rupture. Fragile blood vessels also mean people with vEDS bruise very easily. Thin skin makes blood vessels visible on the upper chest and legs. Occasionally people with vEDS will also have hypermobility of the small joints and wounds will likely take longer to heal, etc,.
Since I wrote this blog (and didn’t post it) teengirl has had a sleep EEG but her MRI was cancelled on the morning of her appointment. Because she’s had brain surgery the radiographer wanted to check her medical records to ensure no metal had been put in. Two months and several phone calls later we’re still waiting for that MRI appointment to be rescheduled.
We do, however, have our first appointment at the Connective Tissue Disorder Clinic at Guys and St Thomas in London in September. Where I hope we’ll see a geneticist and hopefully move closer towards genetic testing.
Here are a few previous posts on teengirl’s journey:
For more information on this rare genetic condition please visit Ehlers-Danlos Support UK