Thanks for taking the time to visit my JustGiving page.

I will be racing in this years Lanzarote IRONMAN on behalf of my good friends Mark, Alison and Jacob.  This charity has helped my friends enormously and I would like to help them continue with this great work. 

Jacob’s Story.

Jacob was born naturally and with no complications initially, however, on delivery he struggled to breathe and keep his body temperature up.  After spending his
first 48 hours on a heated bed the midwives were happy enough with his progress
to let us go home.

On his first physical check it became apparent that Jacob was suffering from a condition called talipes, commonly known as clubfoot.  The midwife thought this could have been due to the position in the womb and can sometimes correct itself in the first few weeks.

When this didn’t happen we were referred to the physiotherapist and in turn to an orthopaedic specialist.  He had some concerns after examining Jacobs’s muscular features and flexibility of his joints and sent us for some genetic tests at Alderhey Children’s Hospital.

Jacob spent the next 6 months in cast to try and rectify the condition, while undergoing regular physiotherapy

We received the results from the genetic tests and the results were worse than we had ever imagined. 

Jacob has Congenital Myotonic Muscular Dystrophy, which is arare form of muscle wasting disease. It is currently untreatable.

The symptoms can be hugely varied, from the child being lethargic or possibly requiring a wheel chair from birth.  While physical deterioration is inevitable, some of the
other learning difficulties can be overcome.  (All information on symptoms and affects can be found on the link to the Muscular Dystrophy Campaign page.)

Since Jacob has been diagnosed with this condition the list of appointments and specialists has been endless including: Physiotherapy, Orthopaedic Specialist,Paediatric consultant, Neurological Specialist at Alderhey, Speech and Language Specialist, Incontinence nurse, Psychologist and a Welfare and development officer.

Everyday bring a new challenge, tasks that people take for granted require special care. Jacob couldn’t crawl until he was 1, he couldn’t walk until he was 2, and he is still very unstable and cannot jump.  His speech is behind due to the control of his facial muscles, he is currently having speech and language therapy. You may notice a lack of facial movement when he laughs and smiles.

Jacob had to move to a school with a specialist class last September and has regular evaluations from a child development officer and psychologist.  They have concluded he
will continually need special attention due to his communication difficulties.
He also suffers from a short attention span and struggles with fine motor skills which effecting such simple tasks as holding a pen.  He has learning plans and development guidelines in place at school and is in a class of 9 with 3 teachers.

Despite being 7, his educational level is around that of a 4-5 year old. 

As we move forward we are having to plan for the fact that as he ages he will deteriorate and sport may not be an option, wheelchair access must become a major factor in things like choosing a school, where as before all we had considered were sports facilities and grades. Once he leaves home he may need special care, wheelchair access and at present is never likely to have children of his own.

Sometimes it is very difficult to think that we are lucky with the level of his condition, yet the specialists all tell us he has possibly one of the mildest forms of the condition they have seen.

Please Support Gav on his mammoth challenge and give generously to help fund the massive steps that are being made into finding a cure for Muscular Dystrophy.  In the hope that before it’s too late for Jacob, and hundreds like him, a treatment is found and he can live his life like the rest of us.

Thank You,  Mark, Ali and Jacob.

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