I will be totally honest, my first reaction upon entering the conference at 9.15am, and having a quick walk around, was to go to the bathroom and cry. It was such an emotional thing. The first thing I noticed was that a lot of the attendees who had arrived that early were wheelchair bound, or struggling to walk with sticks/walkers. The physical/muscle wasting aspect of the disease was extremely apparent in a number of them, and it was somewhat overwhelming. It was a shock for me, as all the information I had received up to that point was indicative of people not needing walking aids. However, there was a comment made by Dregans specialist when we saw him last week, which I guess I didn't take in at the time....
As the day went on, it was quite obvious that there was a large range of sufferers there, usually with their families, and the way the disease has presented itself in a lot of them was extremely variable.
I think the thing that hit me the most, was the feeling of acceptance amongst everyone, although I didn't realise this is what it was until much later. The acceptance that this is the disease, this is the person! This is what WILL happen, and that even with monitoring and support, there is actually nothing that will stop the progression, and even the support you can get doesn't seem to make any difference to the ultimate prognosis... that was a hard truth!
The presentations were just amazing, the information we received was detailed.... and very blunt. It drummed in to us how very little is known about the disorder, and how ultimately it is down to the CARERS to make sure that the medical professionals are informed.The specialists who attended were extremely knowledgeable about it all, and they were stressing that it MUST be a specialist with knowledge of genetic disorders who you see. A cardiologist is not good enough, you have to see a cardiologist with a SPECIAL INTEREST. Otherwise, you simply won't get the support you need. He may look at an ECG (for example) and see a slight change, but say its not important, because on a healthy patient, it very well might not be. But on a patient with DM it is a sign of things to come, and is VERY important..... this ranges through all the symptoms... And man, there are a LOT! Too many to talk about in one blog post for sure!
Some of the top scientists and researchers were there, including the ACTUAL guy who found the chromosome which causes the disease in 1992. THE ACTUAL GUY! This is amazing! And, it shows how little is known about it, but also, how research can progress in a persons lifetime. There would have been families in that room who had been suffering with the disease and had no idea what caused it, and one day - answer! Just wow!
Another thing that was apparent, is that the convention was aimed at people who had Classic/Adult onset DM1, and who were not necessarily cognitively impaired (to the degree of Dregan and Autism/LD). We did get to speak quite deeply with Dr Chris Turner, who is one of the leading specialists in London, and he seems to have taken a special interest in Dregan, noting that he is quite a unique case. He has offered to see him in his clinic once Dregan turns 16, and liaise with his consultant until then - this is GREAT. We also received a lot of advice from a specialist nurse, which helped us understand why a couple of things are happening, and how to 'deal' with them!
There were some things we learnt that I still can't find the words for, so that will be left for another blog post. Our overall feeling about the conference was that we are SO glad we went along, and feel like we were very lucky to find out about it. We only received the diagnosis 8 weeks ago, and in that time our lives have literally flipped and changed. In that 8 weeks we have done enough research to educate ourselves basically on the disorder, but to be able to go and get advice at this point, from the actual people leading the research and care, was amazing.
So, this blog entry basically explains how we feel from the experience of meeting other people with DM, and from being in that room. An overall positive experience, but so much to process, not all of it good.
One more thing. There are 2 things about the day which I will always remember:
1 - Waiting in line for a wee at break time, I was talking to a lady who had a very mild form, but her 2 daughters and her sister all had it also. Another lady came in, and was quite badly affected in her muscles, she had eye Ptosis (droopy eyelids) on both eyes, and her facial muscles and speech were badly affected, and she was struggling to walk. She said to me - "Its a curse" Just simply that statement. That affected me deeply, and I had to compose myself before leaving the bathroom.
2 - Nobody was smiling. Not because they were not happy, but because many of the sufferers facial muscles were affected, even the people in their 20's, and they couldn't smile. Every now and then you heard a laugh at a joke or something, but the sheer fact that over time this disease can take away your ability to smile, is something that only hit us much later. In fact, Pete mentioned it over breakfast when we were discussing how we had both been in 'process mode' all night, and not slept very well.
So, on that quite sad note - here is a picture of my Bear's wonderful smile. Despite his other symptoms, just now, his eyes and his facial muscles are not affected - so lets get as many of these smiles captured as we can!
x
Legoland 2009 - Aged 10!
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