Blog

Through the Rare Project we introduce you to the people behind their rare conditions.

Alex - GA1

Alex is utterly amazing. He faces such challenges in life (he cannot sit, walk, talk, grasp objects, feed independently) yet he is a happy little boy who loves nothing more than watching cbeebies and playing with his brother. He is very social and loves interacting with people, in fact he is an outrageous flirt with the ladies! Everyone who meets him just adores him and he has the most infectious laugh which takes over his whole body when something amuses him.

He doesn’t like being on his own (unless he can watch TV) and although he cannot talk, he is very expressive when he wants something! He absolutely loves books, especially noisy books and his current favourite is the Gruffalo and The Tiger who Came to Tea. I love that he is interested in the same TV programmes and books as other children of the same age but it breaks my heart to see other children grow and develop all their physical skills (feeding themselves, potty training, dressing etc) as I know that Alex is unlikely to ever be able to do those things.

Alex has GLUTARIC ACIDURIA TYPE 1. It is an inherited metabolic disorder (a genetic disease) which, if left untreated, can lead to brain damage. Screening for GA1 is now included in the national screening programme but unfortunately Alex was born before this was introduced in the UK so we had no idea he had the disease. In fact, his first 6 months of life were completely ‘normal’. At 6 months old however, he fell ill with a sickness bug and he then suffered an encephalitic crisis (i.e. brain damage) which has left him with little control over his body and an associated movement disorder called dystonia which forces his body into unnatural postures which can be very painful.  It was heartbreaking in the beginning to know that the brain damage could easily have been avoided had we known about the disease, especially as many countries across the world have been testing for the disease at birth for a long time before Alex was born. It’s too painful to think about ‘what could have been’ had we known about Alex’s disease before he had the crisis so we have to accept what has happened and try to give Alex the best life he can possibly have. Alex has a rambunctious 5 year old brother who is a constant reminder of what he might have achieved and unfortunately every milestone his brother meets is bittersweet as we know that Alex will never do the same things (like riding a bike or scoring a goal).

Alex needs our support with every activity…washing, feeding, dressing, playing etc. The movement disorder also causes his body to be very stiff at times which is painful for him so we give him medication to keep his body in a relaxed and comfortable state. He has a very strict low protein diet so all of his food is monitored and weighed etc. He has a very busy schedule as he sees therapists on an almost daily basis and is constantly at appointments for various treatments and therapies. He doesn’t sleep very well so my husband and I take it in turns to attend to him in the night because it’s impossible to function when your sleep is interrupted night after night.

I used to feel so embarrassed when people would look at Alex but in order to stay sane I have to just ignore people’s glances and get on with our day. We have all had to develop a thicker skin since Alex’s crisis which is liberating in a way because we just cannot allow ourselves to be affected by what others think.  I think people usually feel sorry for him and for us which I appreciate but I also find the pitying glances hard to deal with it as it’s a reminder of how pathetic the situation is and that is very hard to deal with.

We wanted to take part in the Rare Project because raising awareness and understanding of rare diseases is so important for us because like every family in the land, all we want is the best for our children.  We want our son to be happy, to have friends and to have opportunities to fulfil his potential as much as he possibly can.   This will only happen once more people are better informed about rare diseases and can be more understanding about those who are different from the ‘norm’.

We are supported by a number of fantastic local charities who we would highly recommend to anyone with a poorly child;

  • Homestart. (They are a national charity that match volunteers with families who need some respite time).
  • Carer support (They are a wonderful small charity who organise regular support meetings and educational sessions for parent carers in our area)
  • Small Steps (They are a truly wonderful charity offering physio and sensory development sessions)
  • White Lodge centre (Another truly wonderful charity offering a range of services for people with disabilities).

For more information on inherited metabolic diseases like GA1 you can contact Climb via their website www.climb.org.uk