Rare Disease Fest 2020
Reflections on A Journey of Hope
The Cambridge Rare Disease Network held their RareFest online last Saturday and it certainly was impressive! There were talks on all sorts of subjects relating to rare diseases and I was able to attend many of them. Previously the event has been held over a weekend in Cambridge and was a “rare disease inspired interactive exhibition of science, technology and the arts.” However this year’s one day event took to the internet to deliver an inspiring, thought provoking event covering a great variety of rare disease related issues. All of the content is available to those who attended for the next 30 days, so I’ll definitely be re-visiting some talks and catching up on those that I missed. There was certainly too much for me to be able to capture in this short blog, so for today I’m reflecting on one particular talk that resonated with me as someone who has a rare disease (Noonan Syndrome) and, in my role as a teacher working with some of the families of children who have a rare disease.
The first talk I attended was a conversation between the makers and stars of the short film A Journey of Hope. It was commissioned by the charity The Same but Different with the aim of communicating to people how lonely, scary and intimidating the journey to diagnosis can be, how absolutely vital it is to be able to find answers and also how there really can be hope. The aim was to create a positive film that communicated what real life was like without glossing over the real issues. A film balancing hope and realism.
The interviews that happen in the film powerfully express many of the feelings that those of us in the rare disease community can identify with so strongly; the powerlessness you feel when you are operating in the dark, the sense of loss, the drive to know more or conversely the fear of knowing too much. All these feelings can be so overwhelming and all-consuming, but perhaps made all the harder by the feeling of isolation due to a lack of understanding or support when there is no diagnosis or if you are unaware of a support group.
The film was shown at the start of the talk and was followed by a conversation between two parents Maja and Tom, Ceridwen (founder of The Same But Different and Director of the film) and Shirlene (Executive Producer). It really was incredibly moving and raised a number of points that I could completely relate to. Maja spoke of the feeling of having to stop being a Mum and instead becoming a researcher in order to drive the search for a diagnosis. After eight years of searching, following genetic analysis, Maja was finally told that her daughter had a form of Ehlers Danlos Syndrome mef2c. She described that moment, as like a rebirth, providing her with new strength and gifting her with a feeling of being able to be just a Mum again. Personally I can really relate to this, having being diagnosed with Noonan Syndrome at the age of 16. I had always felt a little bit odd, different to other people. I was aware of feeling almost as though I experienced the world at a distance, that despite having a loving family and good friends I knew that I didn’t operate like other people or experience things the way they did. Finding out about having Noonan Syndrome explained so much of that and having the answers gradually made that feeling disappear. I don’t even know why it helped in that way; It’s something that I can’t articulate very well. I can only theorise that understanding myself and my foibles, knowing why they were there, helped me to begin to feel comfortable with who I was and in turn with who I was in community.
In contrast to Maja’s long search for answers Tom and his wife Helene were told that their daughter had Wolf Hirschhorn Syndrome only 2 weeks after she was born. But whilst their journey was different to Maja’s there were similarities and relatable nuances to their stories. Tom spoke about how glad he was that they had taken part in the film only a year after Julia’s diagnosis. He felt that this was incredibly important because people feel so differently at different points; that by taking part when they did, the film gave a sense of how raw their feelings were at that time and that it was vital to hear from people at different stages in their journey for this reason. Reflecting on this he told of how scared he was in the early stages to speak to people that were too far down the path and were confident of where they were going, feeling ‘too vulnerable to be guided by them’. But at the same time he was scared to talk to people who were too angry with the lack of support and he emphasised how important he felt it was to do things at the right time for you. This is something that I think is probably true for all distressing events in our lives.
There were many thought provoking things about the film, but one point that Tom raised during the chat about it was one that I hadn’t really considered properly before; we don’t really hear from Dads much. That has certainly rung true throughout the years I have been a special needs teacher. In 25 years it is nearly always the mothers that discuss the issues and express their feelings. Why is that? Do the fathers, husbands, brothers need to talk? Tom is keen to try and promote Fathers’ voices and it made me wonder what we can do at Together to facilitate men talking about their experience of rare disease.
The value of talking with people who have experienced a similar journey, whether because of the same or different rare disease, was so profoundly made for numerous reasons. Maja spoke about how talking with others had stopped her from feeling lonely and this is certainly akin to something that I have felt. After attending the Noonan Syndrome Association Families Day a few years ago I became a member of the association. And although a little intimidating at first, I soon began to feel as though I had found people that I shared bond with that is difficult to define. I know of many times when such opportunities for people to support each other from a position of understanding have been the best and finest therapy.
Most poignantly, Maja spoke about how she had spent many years being afraid of ever being pregnant again. How she could never envisage being a mother again. She believes that she isn’t the only parent that has felt the same way and I know this to be true. But Maja told us how having the opportunity to talk to others was partly what helped her to feel brave enough to try. And now she has another daughter, tiny and new, and clearly treasures them both.
The message that came through clearly throughout this conversation, was expressed in the birth of a new baby and so eloquently by Tom, is that eventually it is possible to find a way to enjoy your life, that there will be ups and downs, it might be bitter sweet, but that it is possible to be happy.
If you are looking for a rare disease support group or patient advocacy group and have been unable to find one, please check out SWAN UK (Syndromes Without A Name), a charity run by Genetic Alliance UK. If you are a man dealing with rare disease yourself, or in your family, check out Tom on Twitter and get in touch with us, we would love to be able to facilitate ways of enabling conversations. If there is anything from this blog that you would like to talk about, please don’t hesitate to contact us.