Nicki's story

My name is Nicki. I am 48 years old and care for my 21 year old son who has a rare disease, Argininosuccinic Aciduria (ASA). Due to this he has been registered disabled since he was 3 years old.

The complications of this condition are global developmental delay, he has learning disabilities, physical disabilities including hyper mobility, low muscle tone and flat feet.

For long distances and after illness he uses a wheelchair. He has periods of hyperammonemia usually requiring hospital admission to be put on an IV drip.

His diet is protein restricted and he has 32 ammonap tablets a day with 44mls of l-arginine. (Shared 6 hourly). He has micro nutrients, vitamins and iron. Four years ago he had his first seizure and is now diagnosed with epilepsy and medicated.

Since getting divorced when Brandon was 5 I have been a sole carer for him whilst also bringing up his two older siblings. I had another son Brett who passed away at 6 days old and was posthumously diagnosed with ASA; he was my first born. 

It was a struggle when Brandon was in paediatrics but he did have “open access” to a local hospital, which was a great feature, as he needs bloods done relatively quickly and usually a drip administration. There are many charities that support disabled children and they did help make life sweeter and less stressful. 

When he turned 18 it was a huge milestone but the battles were about to begin! Educationally there are very few provisions available, a postcode lottery in my opinion.

Social workers who do not have enough if any experience of these young adults with rare diseases. These young people are living longer and no local authority seems to be prepared or preparing for them. 

Personally I feel I have been fighting for Brandon’s entire life either for adequate health care, education and or social provisions. Support for myself has been lacking I do suffer from depression and anxiety but being a sole carer makes it difficult to attend counselling or suchlike. My two eldest no longer live at home. 

I find it very difficult to trust others to care for Brandon due to the complexities of knowing when he is becoming unwell. My eldest son, now in the army, was my right hand man and my rock. I trusted him to care for Brandon and help support me in my caring role.

Looking back it could not have been easy for him being a young carer helping with his brother and supporting his mum, especially when I had depression. We are still very close and I am so proud of him! 

When I could, while Brandon was at school, I undertook courses in Makaton, retook my GCSEs, an access to teaching course and much volunteering. This helps with my self worth and personal development and improves my mental health. Although I don’t think SS understand how important this is.

We are a family with a rare disease not just a Brandon with a rare disease! 

For others I would definitely recommend contacting their local carers centre who have a wealth of knowledge and information on helpful groups and can even help with grants and courses. This I feel is much more important as your loved one gets nearer to adulthood as things do change drastically. 

Parent carer groups were a fantastic way to socialise with others in similar situations and a great place to share knowledge. 

We have had direct payments in children’s services and now through adult services; to employ a personal assistant. But there is a huge difference which is not made clear at all! Whilst under children’s services this is free.

Due to Covid-19 and being unable to attend college, as it was unsafe for Brandon, his social worker helped put in place a direct payment so we could employ a carer to help at home with education and socialising.

However, even with my wealth of knowledge, I was not aware he would have to pay out of his benefits towards it. I believed this was in place of college so the thought never crossed my mind. We then received a bill which we were not expecting.

No one had even mentioned that we would receive a bill or that my son would have money taken from his meagre benefits to pay it. So the last year I have now been arguing about this. 

We filled in a DRE (disability related expenditure) form; using the government guidelines; yet financial assessment disagreed with the amount we stated was affordable.

There should then have been discussion around agreeing an affordable cost. Except they just started bullying us with bill after bill and just pigheadedly refusing to budge.

The SW could offer no support either. This caused me lots of stress and worry. Whilst searching online I came across a LA document from 2018 stating there was something called a “Waiver Scheme” where you can apply under various reasons to have the amount reduced. 

I have now applied and am awaiting the outcome. The bill so far is £2025.

The social worker said she had never heard of it. I said now you have you can help others and it’s not right this information is hidden. I submitted a FOI request asking how many people had applied for this and the numbers are staggeringly low. 

I don’t only want to support my son having his best life but if I can make life better for others in a similar situation I will.

But it should not come down to me, that’s why us carers need the professional support of those paid to make the lives of the vulnerable better.