What I wish I had known when we got a Rare Genetic Diagnosis for my child.

I’ve told our story and battle to diagnosis many, many times, but recently I’ve been thinking about when we got that diagnosis, and what support (or lack thereof) was available to support us. I think about those families walking the path behind us and know they feel the way we did. Regularly people contact me when their child has been diagnoses with Inv Dup Del 8p and ask for advice, they ask about Hannah’s development and all the other questions they have racing through their brain after the news, but the strongest sense I get is that they just don’t want to feel alone. Some have got a diagnosis quite quickly, others have had a similar lengthy battle as us.

Although our initial experience in trying to gain a diagnosis for Hannah, and to be believed that there was something underlying going on, was not a pleasant one, once the health care professionals had agreed that it needed investigating further things moved quite quickly. Once Genetic testing was ordered, bloods were taken and the results were back in about 12 weeks. I did have to chase people slightly but that was my own impatience. Having been accused of Munchausen’s by proxy, called neurotic and told that my daughter was simply lazy, I was so relieved when we finally got a diagnosis. I felt vindicated that everything I had fought for was not in vain. I cried because it was confirmed my daughter was disabled, equally I cried in relief at the confirmation that I was not neurotic or overprotective. I was right and I had fought so hard on her behalf and it had paid off.

Our genetic diagnosis was actually a curve ball that blindsided us. Health professionals and us, her family had been convinced that she had Cerebral Palsy due to her birth so this took us all by surprise. I was also 16 weeks pregnant with my second child when we received the diagnosis which led to an uncertain few months wait to find out if my husband and I were carriers and if our new baby was also going to be affected. Hannah’s’ condition is De Novo meaning it’s a new genetic arrangement not inherited by either myself of her dad. We wanted a diagnosis because we needed health professionals to believe us and help us where Hannah was struggling. Issues like feeding, reflux, hypotonia, hypermobility, global developmental delay and seizures had us concerned. We fought for a diagnosis to be able to access the services and early intervention teams that would support Hannah to be the best version of herself she could be.

When we were given the diagnosis our geneticist didn’t know much about the condition as there are only 65 known cases worldwide. We were painted a pretty bleak picture of a future for Hannah and handed a leaflet for Unique. We were told she would likely never walk or talk and would need lifelong care due to her disabilities. I now know this to be incorrect. Disorder guides and expectations can be useful in painting a picture of potential development however they do not define your child’s future. While useful as a rough template for potential health concerns, condition guides don’t account for love, tenacity, stubbornness, nurturing, encouragement, happiness, strength and determination. Hannah has proven everyone wrong and continues to develop far beyond any limitations placed on her at the time of her diagnosis. It’s difficult to see the light when so many medical notes are written in such a deficit led way but by changing the way we speak about their challenges helps others see their potential as much as we do.

I am regularly caught between not letting Hannah’s diagnosis define her life and also raising awareness of rare conditions and what they mean for families like ours. I often say that although I wish I could take away Hannah’s challenges I wouldn’t take away her wonky genes. They are so intrinsically her that to change her would probably completely change her, the person we love. Although she doesn’t look “syndromatic”, most kids with her condition look similar and could pass as siblings, the mostly have wide smiles, dimples, beautiful eyes and the most incredible eyebrows. They also all love music and thrill-seeking and being upside down, proving that changes in genetic material can also be a beautiful thing. We are lucky enough to be in contact with almost all of the other Inv Dup Del 8P families in the world. For us having a diagnosis means we can connect with these families and share our lives, ups and downs, celebrations and hard times with others walking a similar path. We can share what works for our kids and what doesn’t and support each other on the tough days. There are still tough days even now 4 years after diagnosis when I question “why Hannah” but then I look at all that embracing her diagnosis has both brought me and taught me and I would have it any other way.

Here is my advice I tend to give parents and caregivers when they ask and Its what I wish I had known when we got that diagnosis almost 4 years ago.

It’s ok to feel relieved- especially If you have fought a hard battle to get to this point. Relief that you trusted your own voice and kept going until you got answers

It’s ok that even if you got the answer of a confirmed genetic diagnosis, you now have 60 million more questions. You now have a direction you can research in and connect to get answers.

It’s ok to grieve. This is a tough one, but it happens, you are not grieving for your child but for the picture you initially had in your head of what your lives would look like. Remember though, it’s ok to feel all those feelings you can’t quite explain, or feel guilty for having – own them, feel them, sort through them BUT don’t let them weigh you down and carry them forward. They serve no purpose moving forward and can prevent you from seeing all the joy that is to be had.

Don’t expect professionals to have all the answers – its not their fault, the likelihood is, especially with rare conditions, they have simply never come across the condition before. Become the expert in both the condition but also what it means for your child. Remember that like a lot of things genetic conditions come in a spectrum, two children with the same condition may be complete opposites in terms of health, abilities and presentation. Be the expert in YOUR child. Work WITH professionals, not against them. It’s hard to change that if you are used to battling but it’s important to form a coalition with them and redress any imbalance of power.

Join Unique at http://www.rarechromo.org

They can get you in touch with Families with a similar diagnosis and have the most up to date and comprehensive guides to each condition. They speak to families and collate all the information in to easy to read guides to help you understand your child’s diagnosis. They also arrange family days, raise awareness and support families who are registered. They have a facebook group and a newsletter. They do all this for free from fundraising and get no government funding so help them if you can.

Join Facebook groups with other families with the same condition, they are a treasure trove of information, lived experience, love support and guidance. I would be lost without our 8p family and count them as just that, Family.

Hannah and her buddy Ella. They both have a similar 8p diagnosis.

By all means research the condition and connect with others with the same condition, share stories, and connect with others with the same condition BUT don’t define your child’s future by others development. Guides, while useful don’t account for love, tenacity, stubbornness, nurturing, encouragement, happiness, strength and determination.

Summon your inner strength. Its not a straight road, there is twists and turns, conserve your energy for the battles that really count. Don’t waste time on prisoners.

Always assume competence and capacity. Seek out like minded others who align with your vision and values. It’s ok for your circle to change, you may find that certain friendships end but you also find that your life becomes completely enriched by your new friendships and connections.

Be an advocate for change and challenge social injustice. Stand firm in your beliefs but always move forward. Speak your truth. As Nelson Mandela said

“Be the change you wish to see in the world”

I don’t know everything, but I keep trying to find the joy, the silver lining, the happiness and I refuse to allow any struggles or diagnosis to define ours or Hannahs’ path. The single biggest piece of advice I could go back and tell myself is that

“Its all going to be ok”

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Author: Rebecca Pender

Rebecca Pender is based in Glasgow, Scotland and one of her many hats she wears is mum to 3 young girls under 6. Her eldest daughter Hannah has an extremely rare genetic condition called Inv Dup Del 8p. She also lives with epilepsy, brain abnormalities and a learning disability. As a family they refuse to let any diagnosis or struggle define what they can or cannot achieve, they may just have to improvise the plans. A graduate of the internationally recognised Partners in Policymaking programme, a leadership programme for parents of disabled children and disabled self advocates, Rebecca is a huge champion of disability rights and is determined to break down barriers for disabled people in areas like inclusion, collaborative care with health providers and social injustice. You can follow her on Facebook and also on Twitter.

One thought on “What I wish I had known when we got a Rare Genetic Diagnosis for my child.”

  1. This is an inspirational blog, Rebecca. I’m the grandmother of a baby boy who has just had this diagnosis, and I’ve found your writing very helpful. Thank you. Very best wishes to you and all the families coming to terms and finding a way forward after learning that there beloved child has this genetic disorder.

    Like

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