The day when we got a diagnosis

Noreen is a parent-carer for her daughter, Safa, who has special needs. She also works in the voluntary sector supporting the parents of children with special educational needs as well as in education supporting children with special educational needs in school. In this blog, Noreen reflects on her journey towards a diagnosis for her daughter and the differences this did and did not make.

 

The journey hadn't been easy. It took 16 months before I finally got a name for the condition Safa had: Cytochrome C Oxidase Deficiency, a form of Mitochondrial disease. I had never been good at Science at school. I still don't know how I managed to scrape through and pass my Science GCSE. Before I had Safa, I didn't even know what mitochondria were and had certainly never heard of Cytochrome Oxidase but at least now I knew exactly what I was dealing with.

Getting a diagnosis for Safa had not been easy. All tests had come back clear and there was only one test remaining that could let me know what her condition was: a muscle biopsy. She needed to be put under general anaesthetic so that doctors could make an incision and take a sample of muscle from her thigh.

It was an invasive procedure but I had spent months trawling the internet for answers and would come across the possibility of it being one debilitating disease or another. The prognosis was always so bleak and as a parent I felt I needed to know, if I could, exactly what I was dealing with. Even the doctors weren't sure: there were too many 'what ifs'. I still remember the day I was told that she could possibly have an enzyme missing and I sat arguing with the doctor telling him, 'you create babies from scratch nowadays, if she has an enzyme missing why can't you create it and put it in her?'

To which the doctor calmly replied, 'Technically we do not create babies from scratch.'

It wouldn't change the way I cared for her but at least I could be more informed and prepared. She was due to undergo surgery for removal of cysts just before her first birthday and the muscle biopsy was performed at the same time.

I was called back into the hospital 4 months later as the consultant sat me down and confirmed that they had a diagnosis for Safa. I admit I was disappointed and looking back I am glad that I know what her condition is, but on that day when the doctor told me that the disease is degenerative and his exact words were, "there is no treatment or cure for the condition," I was devastated.

In my heart I had convinced myself that all her problems were due to the cysts she had removed and she was doing better than the doctors had thought she would. She had fought death to be alive and she was my little fighter. It took a while for it to sink in and I remember crying all the way home. The journey to the hospital always took longer than an hour.  Those words seemed so final, if the condition could have been treated I would have had some hope but I felt bereft, being told that there is nothing that could be done to help her.

I decided we would just have to take every day as it came and that is exactly what we did.

Noreen

Getting a diagnosis helped in the sense that I could stop trawling the internet and I felt empowered being able to know and understand how best to support Safa. If I had to do it again I would still choose to know her condition rather than wonder what it could be, but it no longer matters what her diagnosis is because she astounds me every day and she has done things the doctors never thought she would. 

 

Have you had a similar experience to Noreen and her family? If you need expert advice, Contact a Family have produced guides for Getting a Diagnosis, Living without a diagnosis and getting Support when you don't have a diagnosis. You can also ring our Freephone expert helpline at 08088 083 555, Monday to Friday, 09:30-17:00.

You can link up with other parents on our online community to share experience and advice. You can join the discussion about this blog here.

Would you be interested in writing a blog? Email community@cafamily.org us your contact details and we will be in touch about how we can get your voice heard.

Written by Contact at 12:00

Comment

Comments closed