November 1 2007
NZORD 2007 Conference Report
What a coincidence of interests there is between different support groups who share the same rare disease. For many older members the syndrome their children had is no longer as rare because of the power of the internet to inform and because of the explosion of knowledge which the mapping of the genome has brought in its wake.
Once again we were inspired by the scientists who want to make a difference in the lives of families who nurture those with a rare disease.
One common story was the Odyssey of Diagnosis which follows so many tortured paths and wastes so much mental and physical energy. The young parents said that though it was hard finding out, they knew what to do and what to expect and did not go round in circles of despair and self blame.
With early intervention, some syndromes now have the hope of a cure or an alleviation of the symptoms that make life so much of a hurdle. Communication waiting for the right response instead of expecting an instant response can make such a difference to learning and behaviour.
I was interested to hear that other syndromes such a Fragile X have a lot of anxiety and panic attacks associated with them. I was thinking of Kathy Hunter's comment about Dr Huda Zoghbi working on a drug to target the anxiety response in Rett. Kathy said that buspar had helped Stacie reach equilibrium.
Other parents had exactly the same difficulties with bad seizures and the anxiety of following ambulances to hospital so they could have their care. Seizure control is one of the big issues for so many families. Finding the right drug at the right stage and then being seizure free is something we all look forward to.
I also talked to the representatives from Parent to Parent who were attending. They hold free training days to become a parent counselor and they are working on a programme for advocacy too. We may be able to use their facilities for video conferencing so people who cannot come to meetings may be able to join the conference. Dr Mike says one day we will be able to do this via computer so our members in rural areas will not feel as left out.
On the forum section I have talked about national screening. although Rett is not on their sights yet, it is interesting to think about and to discuss the idea. At what stage is it best to know what the reality is about our children and does it save a lot of trial and error, which we have all been through. You may like to leave comments on the forum which we can send as feedback to NZORD.
Parents talked about being so tired it is hard to advocate for oneself and how important emotional support is at the time of discovery and to surmount some of the difficulties the children suffer. We all said that the experience was one which we would have never chosen but learnt so much about what the nature of life and love and hope is all about.