I have spoken previously about Ollie, the grandson of our friends in France. Here I want to explain a little more and give some information about what I am doing to help.
I am quoting now from the JustGiving site started to raise funds for equipment needed by him and his family.
When Ollie reached 1 year old in June 2010 he began to show signs of wanting to walk just like any other child, he had been crawling around no problem and was starting to stand up whilst holding onto furniture and even managed to walk across the living room whilst holding onto his walker.
However he suddenly stopped doing this and when we tried to stand Ollie up he didn’t want to and stopped being able to support himself as though it was uncomfortable, he even stopped crawling for a number of weeks. In January 2011 we took Ollie to a pediatrician who did various tests which all came back fine but when we returned to the same person in April there was still no sign of Ollie improving with walking and he was now 20 months old.
Ollie was referred for more extensive tests at the RVI where we were told that there was definitely a medical problem but they were not sure what it was at that stage.
In June 2011 just after Ollies 2nd Birthday we found out that Ollie had Spinal Muscular Atrophy which was a Genetic condition passed from both myself and my wife Nicola who both have the same faulty gene which is responsible for producing protein in the body to enable the signal from the brain to pass to the relevant muscles to allow them to move and to grow. Myself and Nicola are both carriers of the faulty gene but everyone also has an exact copy of every gene which steps in when the other one is faulty.
However both myself and Nicola have passed our faulty gene to Ollie which means that his backup gene is also faulty.
The condition is a regressive condition which means that the strength he has now is the most it will ever be and he might get weaker as he gets older as it could spread to other muscles. At the minute Ollie is unable to walk at all and can’t even stand up without help as his muscles are so weak and underdeveloped in his legs. He is strong in his upper body but probably is about 10 percent weaker than other children and his hands often tremble which is part of the condition.
The condition can come in three broad levels. Level 1 patients have the condition in the most severe form and generally don’t survive past their second birthday due to the weakness in the muscles which affects the respiratory system and leads to breathing and chest conditions. Level 2 patients until recently were categorised as children who have never walked independently before the onset of the condition and can have a reduced life expectancy which used to be in the early 20’s but due to advanced patient management now are thought to hopefully live a normal life expectancy. Level 3 patients have walked independently and can still stand and walk aided. Ollie has been categorised as a good level 2/poor level 3 patient.
There is no treatment or cure at present although research is ongoing but Ollie is faced with life in a wheelchair and he has a manual wheelchair (NHS) already.
To provide the best future for Ollie we are going to start fundraising to provide a specialist motorised wheelchair for Ollie which will allow him to stand upright and adjust his height to work surfaces. There are various designs on the market and we are still looking at which would be the best but they retail around £15,000.
Please donate whatever you can to help us reach this target. Visit JustGiving by following this link.
To help Ollie and his family, our friends, next weekend – 20th to the 22nd July I will be walking across the Welsh three thousand foot mountains. 15 mountains, all in one go. I’ll be starting with Snowdon and camping up there overnight, then down into the valley, up and over the Glyders and Tryfan. I’ll drop back down into the Ogwen valley before heading up to a last night camping near Pen yr Ole Wen on the Carneddau plateau before finishing later the following day.
I’m hoping the weather will be good or the camping will be interesting in some real Welsh weather. Officially it should be done in 24 hours but I’m hoping to complete it over three days, as I’ll be camping and carrying everything I need. I will be starting with others who are planning on travelling much quicker aiming for less than 24 hours, but I will be alone most of the time. The list of summits is below, and you can find info on the web about the routes and the challenge itself, the record is 4hrs 19m, not a time I will be troubling.
Crib y Ddysgl
Pen yr Ole Wen
I’ll repost later to let you know how it goes.