To better times ahead

Joseph’s lovely Granny, Lynne, died a few weeks ago (23 April) and today we should be celebrating her 68th birthday. The past few months have been emotional and stressful and a whirlwind of journeys to the UK to be with Lynne and the rest of Matt’s family.

Throughout all the shock and sadness we’ve felt over the past few months, Joey has been our anchor and our rock. His smiles and amazing nature has carried us through the toughest days, especially our 18 hour long and final journey back to the UK to say goodbye to Lynne.

Joe’s medical check ups continue and in April he had his first set of botox injections to reduce spasticity in his ankles. We’ve been told by doctors that this is a neurological problem caused by an erratic flow of nerve impulses sent from the brain to the muscles which causes excess contraction in one muscle group.  In Joseph’s case, his toes were remaining pointed and he couldn’t plant his heel on the ground when in his standing frame or trotter and putting on his shoes was also very difficult. A check up with the orthopedic doctor last week confirmed that the spasticity in Joseph’s ankles is no longer localised, it is in fact spreading to his thighs and hips. So, Joey will be having regular sets of botox injections at the hospital to reduce this spasticity.

In other areas, we had very good news in March when we attended the annual general meeting for ELA (European Leukodystrophy Association) in Paris. For the second time we met Professor Yanick Crow who gave us an update on his ongoing work on Joseph’s illness (Aicardi-Goutieres syndrome) and also his plans for the coming few years.  Professor Crow has dedicated his entire career to AGS and has almost single handedly discovered the existing genes that cause the different types of AGS which allows us to have a diagnosis for Joey’s illness.  Thanks to the ELA and also to the European Union, Professor Crow has recently received a substantial amount of funding to continue and expand his amazing work and team.  This is a massive step for everyone affected by AGS and raises our hopes for learning and understanding more about AGS and maybe one day finding a treatment(s), or dare we suggest a possible cure for reversing the brain damage already done?

The next few blogs will tie in Joey’s ongoing progress alongside a race countdown for our friend Ed Nicoll who will be competing in Ironman Nice on 27 June 2010 and helping us raise more money for ELA.  Ed lives near us here in France and is packing in his training with a very busy work and home life, so we are deeply touched by his madness to fit in an Ironman in honour of Joey and all other leukodystrophy sufferers.

3 Responses to "To better times ahead"

  • C Myers says:
  • mona qadri says:
  • Edel Kennedy says:
Leave a Comment