‘All too often the person is lost behind the diagnosis’

At the 2018 Rare Disease Day reception in Scotland, Rebecca gave a speech about her daughter, and their experience of living with a rare disease.

It’s a difficult thing, to admit to yourself that you think there is something wrong with your child. It’s harder again to say that statement out loud to your loved ones or health professionals. It becomes a battlefield when those professionals repeatedly dismiss your concerns. It took strength I didn’t know I possessed to persevere for 18 months in the face of accusations of Munchausen’s by proxy and statements such as ‘I can assure you, there is categorically nothing wrong your child, she is just lazy’ and ‘you’re a paranoid, sleep deprived first time mum’.

I started to question my own sanity, whether I was crazy and whether my daughter’s inability to crawl, walk or babble by 18 months was simply down to bad parenting or was something else really amiss. My heart and my gut knew differently and so I soldiered on. We wiped the slate and changed our medical practice and our health visitor. I invited the new health visitor to our house to see my daughter and I let it all out.

Then came those three words I will never forget. ‘I believe you’.

I finally had an ally. Blood tests were ordered to rule out genetic causes in the first instance. And so, we waited.

Picture a dark wet November evening, we were sitting in the chiropractor’s office having just spent another weekly appointment trying desperately to help my girl with her tone and strength (at vast personal expense) when the phone rang. It was her new paediatrician. She mentioned the blood tests and how the microarray had picked up some small variants on some chromosomes and most of the time these were benign and didn’t mean anything. However, Hannah’s findings were significant. I stood there and let the tears fall. A mixture of heartbreak that my daughter did have something wrong with her and it was confirmed my child was disabled, and of relief that my daughter did have something wrong with her.

I felt vindicated; I wasn’t crazy, paranoid, and delusional – though I was sleep deprived and I still am! I wasn’t projecting and most importantly I was right and had advocated so strongly on her behalf and it paid off. She has a rare genetic condition called Inverted Duplication and Deletion of 8p. She has a deletion and a duplication of genetic material on her eighth chromosome. There are 65 registered cases worldwide. It doesn’t have an eponymous name that people may have heard of. Of that group of 65, she is the only one with her arrangement. Hannah is truly unique.

Hannah lives with epilepsy, severe learning delay, macrocephaly and hypotonia but these are just labels. She also has the warmest smile and the biggest heart.

Most of those health professionals who dismissed my concerns now make up some of Hannah’s medical team. I’m sure you can hazard a guess at how many apologies I have had from them.

In fact, I remember staring down the man who had told me there ‘was categorically nothing wrong with her and she was just lazy’, as she lay in intensive care on life support for five days after a horrendously long and life threatening 40-minute seizure.

Ironically, in the lead up to her paediatric intensive care unit (PICU) stay I took her to six GPs over the course of ten days and was repeatedly turned away with advice of ‘give her Calpol, it’s viral’. It was actually respiratory syncytial virus which developed in to bronchiolitis and it nearly took her life. The main reason she survived was because I, as her mother, took her to A&E instead of seventh GP and the seizure happened five minutes after arriving, next door to the resus room.

Please don’t think I am here speaking with the intent to bash our NHS. The paramedics, the doctors and nurses in resus who we are now on first name terms with have saved my daughter’s life on numerous occasions. We have a great relationship with our new medical practice and my daughter is kept alive because we have access to medication and rescue medication at no vast expense. We have world class medical system here in the UK with a wealth of knowledge and expertise and I am wholly grateful for its existence.

However, something needs to fundamentally change within our system. There needs to be more awareness surrounding rare diseases and conditions and what they mean for people. I would say patients but all too often the person is lost behind the diagnosis. I’ve lost count of the amount of times I given her medical history, got to her genetic diagnosis and been met with a blank look. A doctor once asked me if she would grow out of it. It’s not that these people don’t care; it’s just not on their radar.

Recently after her Disability Living Allowance (DLA) was only re-awarded for a year and I queried why I was told by the person who made the decision it was as her needs may change. Exasperated I said something along the lines of ‘well unless her eighth chromosome grows back then I doubt it’. The poor woman answered, ‘Oh I don’t know what that means’.

What we must start doing is making it better known that these conditions exist, they are largely unstudied, but the parents of these children are the experts. We are the ones searching frantically for more information. The ones forming bonds and connections with other families with a similar diagnosis and swapping stories and best practice. The ones seeing how their children have developed.

Imagine the excitement of finding another family with a child older than yours, with the same condition, giving a glimpse of what may be to come.

These other families become friends, allies, your support network and a place to vent when you have a bad day. You celebrate the little victories and the big ones but most importantly you share everything so when health professionals ask you can share from first-hand knowledge details of this syndrome. We’re very lucky to be taking part in a research study in to Inverted Duplication and Deletion of 8p spearheaded by Prof. Wendy Chung at Columbia University in the USA along with colleagues from Weill Cornell University, also based in New York. There’s even a new name somewhere in the future and the parents of those affected are being charged with deciding that name.

Here I stand now having the same concerns with my third child, five years on from our initial battle and meeting the same barricades and blockades that I had previously. I first took her to the doctor at age six weeks with concerns. She is now eight months and I am still struggling to get anyone to listen. I sat in my GPs with a locum doctor two weeks ago and listed all my concerns again and stressed how I felt that I wasn’t being listened to or taken seriously, that I had a disabled child but also my middle child is a typical child and something with my new baby was amiss. She changed the subject and ended the appointment proving my point.

I am not being listened to. I don’t have a degree in medicine, I haven’t been a specialist in genetics, paediatrics or emergency care.

However, I spend 24 hours a day, seven days a week with my child and I know her better than any degree could ever give me. I’m my children’s voice and I am not being heard.

It’s not just health professionals or doctors who don’t know enough about rare conditions. Regular people, friends, family, colleagues, acquaintances and just the general public ask what’s wrong and you can visibly see them switch off as you try to explain what her diagnosis is and what it means for her. I’ve learned, as an act of self-preservation to not give her whole story or ‘label’ when people ask but then I wonder if I’m not doing enough to raise awareness. A few years ago, we filmed a segment for STV news for Jeans for Genes day about what it meant to live with a genetic condition. It was aired after ten pm at the end of the news programme. If we want to really raise awareness then we need people to listen and put it right out there where it can be seen.

We’ve had too many battles as a family ranging from DLA tribunals, healthcare, the fight for access to appropriate support for education, accessible housing and this shouldn’t continue.

I want to make a difference. Not just by raising awareness, I don’t want future families to have to endure the emotional torture that our family did and get to the diagnosis without so much as a ‘sorry, we were wrong. Your child has a genetic condition, we don’t know anything about it, here is a flyer for Unique who can give you more information, you’re now discharged from genetics’.

Let’s learn to listen to parents, listen to the experts in their own bodies and their own children. Listen to people describing their symptoms and asking for help. Let’s think outside the box rather than take a wait and see approach. Let’s stop allowing parents to question their ability to parent and allow them to advocate on their child’s behalf and be truly heard. Let’s take a step back and look at the bigger picture and truly place the best interests of these people at the heart of their care. Let’s not keep making the same mistakes of the past and stop an unnecessary rollercoaster of misdiagnosis or refusal to diagnose therefore stopping the access to the right medical and emotional support required to allow them to flourish.

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