Our journey so far...

Well here is our first blog! I will start with our journey so far.

My name is Carol-Anne. I am married to Adrian and mum to Nathan, Cameron and Amber. Amber is 3 years and 5 months. She was born OK but at three and half months started having seizures. From then on it was noted she had hypotonia (low tone), mild developmental delay, and a few blood problems. Basically, the picture now is that Amber has uncontrollable epilepsy and currently not on any medication, hypotonia, severe developmental delay, non-verbal, does walk but moves around the floor, eye movement problems and dystonia in hands and feet. We currently do not have a diagnosis, and have been through the whole range of testing that is currently available. We have been to Great Ormond Street Hospital (GOSH) twice, but to no avail, but recently were called from our home on Somerset to Newcastle Royal Victoria Infirmary, at the Mitochondrial Clinic, where we have been given a secondary diagnosis, but to what we don’t know!

Amber has had five MRI’s all of which were normal. The next round of investigations will involve bone marrow biopsy. We are also waiting to be referred back to GOSH, this time to see a Metabolic Specialist, herein known as Metabolic Man.

Amber attends an Opportunity Group, and will start at a Special Needs School in January. I have just gone through the statement process, which was pretty painless, so she can access more services. I have decided for her to go to school early (was due to start Sep 09) because at the moment I feel she is not getting the support and therapy she needs. At the moment we don’t get respite, or social service input. At the end of last year I was awarded 2 and ½ hours every other week through direct payments, and it seemed hardly worth the trouble, and the time was not right for me to organise it all. I have the social worker coming round Wednesday this week with the Health Visitor and Community Nurse, so hopefully this time we will not be short-changed, which I believe is due to having no diagnosis and their lack of understanding of Ambers condition. I will update you all next week.

Also on the horizon is a house move. We have just sold our house and are purchasing a bungalow, it was a struggle to find somewhere suitable for all of us to fit, and we are down-sizing, but it has the key attributes of a bedroom for Amber and us on the ground floor with a large bathroom. So more to come on that too…

In terms of Ambers health, the first three weeks of the summer holidays she was brilliant, seizures reduced, increase in cognition and strength, but then a couple of week ago, for no apparent reason she is back on the slide. I am sure some of the parents reading this will know what I mean when I say make large strides forward, that sometimes are only short lived! And how frustrating it is. I am waiting for a call from the Neuro, to see what the plan of action is. She isn’t medicated at the moment because nothing works, so my gut feeling will be to re-start Amber on the Ketogenic Diet.

As for me, I don’t work, apart from being a full-time carer! I am on a quest that I cannot deny, and hopefully you will all be able to share my journey from now on, it’s a long road, but I do think finally we are starting to get somewhere.