The view from the trenches – Advocating for your rare disease child

The view from the trenches – Advocating for your rare disease child

This is Rebecca’s story – she presented this to a conference recently.   Rebecca lives in Glasgow, Scotland, United Kingdom.

My name is Rebecca Pender, I’m from Glasgow.   I want to introduce you to my family and I and tell you a little bit of our journey and why we are so passionate about bringing change.

I wear many, many hats in my day to day life. I work full time as well as writing, advocating, raising awareness for rare genetic conditions, with a side of inclusion activism thrown in for good measure. I’m also a bit of a social media addict. 95% of the time though, my favourite and most treasured hat I wear is being Mum to my three beautiful daughters, Hannah 5, Molly 3 and Daisy 1. The 5% it’s not my favourite is because, to be honest, I have three children under 6

The reason I do what I do, the person who gives me the drive and determination to change the narrative is my eldest Daughter Hannah who is almost 6 years old.

She is a daughter, a sister, a granddaughter and Nanas Hannah. She is a cousin, a friend, a student and a teacher. She is a bringer of light in what sometimes seems like quite a dark world. She was conceived in our hearts for 5 long years before she was actually conceived. She is an actress, a musician and singer, a selfie queen, a snuggle monster and a wind-up merchant. She loves music and curious George, she loves school and friends and dancing, handbags and dressing up and her favourite past time is seeing how far she can wind up her little sister. She loves people and being included. She knows when she has been left out. She loves food but especially chocolate and gravy. She teaches unconditional love, patience, gratitude, resilience and strength. She also happens to have PMLD. Hannah’s primary DX is Inv Dup Del 8p, a rare genetic condition with only 65 known affected worldwide. She also lives with a severe learning disability, Epilepsy and complex arachnoid cysts in her pineal gland. She is non-verbal although EXTREMELY vocal, doubly incontinent, hypermobile and hypotonic. She has seizures which go in to Status and become life threatening in the blink of an eye. But first and foremost, she is Hannah.

I heard a woman called Elaine speak at a course I was on and she revolutionised the way I introduced Hannah to people. We no longer start conversations in a deficit lead way unless it is necessary, like a medical emergency or the dreaded DLA renewal which is currently an annual affair.

I am here to talk to you all today about The Power of The Parent Voice and How important it is in the context of in Person Centred and Collaborative Health and Social Care, and co-production. Specifically, under the banner of co-production when dealing with rare conditions and diseases. In Hannah’s case I am her voice as she doesn’t have one.

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 Mrs Pender, 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 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 picked up small variants on Chromosomes and most of the time these were benign, 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, 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.

Its very important to understand that I am not here to vilify our healthcare system. Its world class and has saved my daughter’s life on countless occasions and she is kept alive and healthy because she has access to daily meds, oxygen and emergency care at point of need. We are very lucky. But that doesn’t mean there are not improvements that can be made in practice and the attitudinal culture of hierarchy which sometimes exists.

In November 2014, I took Hannah to see 6 GP’s over the course of 10 days and was repeatedly turned away with

“It’s just viral, treat with Calpol, return if she gets worse”

So, I did return, repeatedly. Some were my own GP practice, and some were out of hours services. It wasn’t until day 10 and GP#6, that I demanded immediate action, I explained that I am sure it was viral, but it’s not going away and she is worsening. The Doctor said that although Hannah was clinically fine she would write a letter for her to be seen at A+E if it would make ME feel better.

When we arrived in triage I explained that she had barely been drinking fluids, I handed her, her juice cup for the 100th time that day and in true child style, she showed me up and drank half a cup of Dioralyte.

They checked her temp and it had gone up to 39.3 so we were immediately taken through. We were explaining to the doctor what had been going on when I notice her hands had gone blue, she went limp and started to seize in my arms.

2 minutes went by, then 3,4,6, by the time we hit 7 minutes they administered Midazolam, but it didn’t work.  She was choking, and I had to run, carrying her in my arms, while 20 weeks pregnant in to resus and handed her over to a team of 20 doctors and nurses. I watched as they cut her clothes off and fought and fought to save my baby girl. I then went in to shock.

Hannah seized for over 40 minutes and aspirated her stomach contents. It didn’t stop until she was ventilated. She spent 5 days on life support and we were unsure if she would pull through or not, and if she did, would there be any neurological impairment further to her already lengthening list of DXs.

I am forever grateful for that resus team, because of them she is still alive today. Because of their quick action they saved her life. However, they were only able to act so quickly because we were already at the hospital after I had demanded we be seen. It was a team effort. We all saved her life that day. But I shouldn’t have had to push so hard for it to be taken seriously. She had RSV and a chest infection which should have been picked up on examination before it ever got to the life and death scenario we had just endured.

Had she been prescribed anti-biotics for her chest infection then it could have all been avoided – and would have cost tens of thousands less than the lengthy hospital stay she ended up having. If they had listened properly.

As a contrary experience a few months later Hannah has a bad seizure requiring blue lighting to A+E at 4.20pm, they wanted to discharge her almost immediately but I held firm, telling them that her pattern was to have 2 large seizures 12 hours apart. They were reluctant but I stood my ground so they agreed. Sure enough at 4.15 am Hannah had her second tonic clonic within 12 hours and we were in completely the right place to have immediate emergency care. The nurse who I had told, and had helped me argue our case with the admitting Doctor took me aside and praised my foresight. I am not psychic but I know my daughter, I know her patterns and therefore my voice as her advocate should be heeded. I may not always be right but I have good odds.

I cannot change our story or our experience, instead I hope to use it to show how things can be done differently and that by working together we can prevent scenarios like that happening.

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 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 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 8th 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. Forming bonds and connections with other families with a similar diagnosis and swapping stories and best practice. 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 inchstones and the big milestones, 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 Inv Dup Del 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. Their study’s foundations rest on the participation and information gathered from us, the families living with this condition. We’ve also been working with a fellow parent who has set up the Project 8p foundation, a non-profit organisation to support families diagnosed with 8p conditions.

We must raise the bar in terms of how families and professionals work together. We need to leave ego and hierarchy at the door and work together and listen to each other to ensure that carers and those with disabilities are not let down. We need to invest time in carers, helping them find their confidence to effectively advocate for their children. Encouraging them to not only find their voices but teach them how to harness it and use it effectively to advocate for change and inclusion. It’s not parents’ vs professionals, its figuring out how we can work together to achieve better outcomes for everyone. It’s about highlighting the benefits of coproduction to ensure all needs are met. It’s also about health professionals using one of the most useful tools in their arsenal for fighting rare diseases. The patients and their families.

We can’t continue the way we are currently. Health professionals are overworked and overstretched, stressed, tired and at risk of burnout. So are parents and Carers of those with profound and multiple disabilities and rare conditions. We are all in the same boat. If we work together we can raise the bar beyond what ever seemed conceivable. We are on the precipice of change and the future of person-centred care is still able to be re-written, by listening and having an even playing field with those polished by their profession and those who are experts by daily experience, the possibilities are limitless.

The recurring theme from our experiences is painfully clear. I am not being listened too. 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, 7 days a week with my child and I know her better than any degree could ever give me. I am my children’s voice and I am not being heard. Recently someone who works within paediatric health told me that staff in universal services are finding it increasingly difficult to refer children with issues in to specialist services as those services have tightened their criteria so much that it makes it almost impossible for them. What happened to the policy of getting it right for every child?

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 10pm 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.

I want to make a difference. Not just by raising awareness but 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, your 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.

So what can we all do. If you are a professional, I want you to consider the way you deliver news to families, whether that be diagnosis or otherwise. Especially if the patient is in the room. Our choice of language is so important and can have a profound impact on families acceptance and journey with rare conditions. I would love if you could subtly change the conversations you have with families and truly listen to what they are telling you – especially if they have had a hard time being listened to in the past. You could be the one person to change their lives for the better and believe them.

If you are a family or patient – I would love if you could become the expert on your condition not only in general terms but what it means for you or your loved one, remember most conditions have a spectrum so they manifest differently in everyone. Spread the word and teach others what it means to live and love rare. Get involved in your care, make decisions in collaboration with your healthcare providers, join studies, it may not make a drastic change to your own loved one but it will pave the way for those who walk the path behind us. Have pride in your rare condition, it can be hard when it causes symptoms but our genetics make up who we are. And most importantly remember who you are aside from your condition, our genetic conditions DO NOT define who we are, they are but a small piece of the incredible puzzles that make us each individual and lovely.