On Thursday the 6th September we travelled down to London to the Rare Disease Clinic at St Thomas' Hospital.
On the Thursday we started with a gathering of a few families and some pizzas, catching up and talking about the children.
The Clinic officially began on the Friday, a whole 6 hours planned in a hospital. The idea of it is daunting and I don't think anyone would opt to spend that long in a hospital, but here we were after signing ourselves up for Terri to get a medical MOT and service.
We got to the Clinic for 9 am. Checked in, and was shown around the facilities available to us while we were there. To begin with they gave Terri a basic check - blood pressure, weight, height check and gauze to put in her nappy to try and gather a urine sample (easier to try and catch all the wee in a toilet - especially when she is incontinent).
We got a list of our appointments:
10:00am Dermatology
10:45am Gentics & Dental
12:15pm Opthamology
After these appointments we would be sent for lunch and to recoup to discuss any findings and any more requests from the Doctors would be dealt with, requests of bloods etc.
We met a few different children and families; some we had met before and some others that were new to us and the Amy and Friends family. Some with Cockayne Syndrome and some with TTD. A similar syndrome, connected to CS:
"Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment."
Like Cockayne Syndrome to suffer from TTD both parents have to carry the faulty gene and the child must receive both faulty genes. Other similarities are photo sensitivity, short stature, intellectual impairment and problems in their DNA repair.
Our first appointment was dermatology. We discussed Terri's sun sensitivity, when she was a baby, spending only 5 minutes in the sun would result in her skin burning, cracking, drying and peeling off. She has since worn factor 50 to protect her skin. The dermatologist checked over her skin, looking for any major signs of sun damage or any differences in her skin.
Nothing unusual was noted and we were told that we were doing everything we should be in sense of caring for her skin.
Next was genetics, they discussed our family tree and whether there was any other signs of CS like symptoms throughout. Our relatives don't show any signs - my Grandad, had a baby sister called Cynthia, she passed away in early infancy, through 'failure to thrive', but I suppose we will never know if this was linked or not.
All of this information gathered in the Clinic, after our consent, can be used towards families of the future learning about the syndrome and eventually, hopefully, improve the quality of life for the CS babies of the future, maybe someday, removing Cockayne Syndrome from the world. This information is used anonymously and will be used in the production of medical research papers.
When we weren't in the appointments, there was a large room with couches and a big table - where we all sat around drinking tea and chatting with the children. It just felt like home.
It was a surreal experience, seeing everyone in London, usually when we're together it is at the retreat. Its funny, even though we are only together once a year, it is like we have known each other forever. I feel more comfortable with people I have only met 12/15 times than people I have known all of my life. Surreal, but warming.
The main appointment we were patiently waiting for was the ophthalmology. Terri has recently had a lot of trouble with her left eye, she had cataracts removed when she was around 2, and since then her eye has been extra sensitive to sunlight. More recently, we discovered Terri has a detached retina... her eyes is now dying, shrinking and the pupil and iris is completely misshapen. When contacting other specialists, via our local hospital, the only options we were given were to have her eyelashes cauterized every 4 to 8 weeks, meaning consistent anaesthetic procedures. The other option, was to remove her eye.
After having her eye checked by the specialists at the Clinic, I feel so much better, it's not getting any better and it probably wont, but at the same time she agrees that there is no action required unless she contracts another infection in her eye. The prospect of having to put Terri through another surgery, when the outcome wasn't guaranteed, was making me panic.
As Terri's health is continuing to deteriorate, in a way, it was beginning to look like the beginning of the end, but the Clinic has given me a sense of calm.
When you go to other appointments, the stress and anxiety is always apparent, we are always on edge as to how Terri would react to tests/doctors, but the caring and child friendly specialists at the Clinic were patient and calming, making the whole experience the most relaxing day I have spent in a hospital in my life.
This isn't to say that we have gone to the Clinic and all of a sudden Terri's health is improving, but that all isn't lost and that there are paediatric staff out the there that care and will take their time to make you comfortable.
My faith and confidence in hospitals and medical care for Terri has been lost for a long time now, but maybe, this Clinic if just what everyone has been waiting for.
So if you're reading this and you have been invited along to the RDC and you're not entirely sure if it will be for you.. it will. It is supportive, it is safe and it is friendly and it is worth it.
Thank you so much to Jayne Hughes and everyone else who has put their heart and soul into Amy and Friends, helping to make big changes for little lives.
Yorumlar