I see the search for a diagnosis for Joel very much as a journey. After all the regular tests came back as normal when Joel was a year old, and we were entered on the Deciphering Developmental Delay (DDD) project, we were told it would be approximately a year before we received these results. Although we were always warned that examining DNA and looking for that one genetic mutation is very much equivalent to searching for the proverbial needle in a haystack (actually, it’s far more difficult than that) we signed up to the project, knowing that this was the best chance of getting some answers.
So, we set sail. As you will have seen in my previous post, the journey was actually a lot longer than a year, but we finally arrived at our destination. Or so we thought. We unpacked, met the locals and felt relieved that we finally had a place that we belonged, a place to call home. However it soon became apparent that we didn’t really fit in on Bardet Biedl Syndrome Island. We were welcomed with open arms; it really is such a lovely, supportive community. We attended their annual conference and met some truly inspirational people. Yet still there was this nagging doubt that Joel didn’t really fit in with the typical presentation, and the specialists agreed with us. Doubt was cast over our long term residency on the island. Despite the fact that Joel’s initial ophthalmology tests showed that the rod cells on his retina were only functioning at 50% (visual impairment is one of the main features of BBS) we were granted a “temporary visa” by the medical team, and further tests were ordered. After a further 18 months we were told that we could remain on the island for now, but that permanent residency could not be granted at that time, and maybe never would be.
So, whilst maintaining close connections to BBS Island, we set sail again. We had joined the 100,000 genome project, knowing that this now represented our best chance of finding a permanent destination. At this point, I resigned myself to the fact that we may remain on this journey for the foreseeable future, and that sailing the Undiagnosed Ocean may actually be our destination in itself. Knowing that we may be on this cruise ship for a very long time, I decided to concentrate on doing what I could to raise awareness of undiagnosed genetic conditions, and genetic research. We were stuck on this ship, but I would seek to make it as positive an experience as possible, and try and ensure that as many people as possible knew we were out there. Few people are aware of Undiagnosed Ocean, or the thousands of families who are cruising around on this ship, often in uncharted waters, with an itinerary that is subject to change at any point.
However events took an unexpected turn. Back in May we received a letter from Joel’s original geneticist, stating that the DDD study had reanalysed Joel’s DNA, and discovered a completely different mutation, that may be responsible for his difficulties. I immediately emailed the geneticist to find out more, however there was little else she could tell me. All she knew was that she had been contacted by a doctor in Oxford, who had identified a new gene mutation in a handful of his patients (four, I believe) and Joel also appeared to have this mutation. She hadn’t even been told the gene this mutation was on. She had sent Joel’s DNA off to Oxford, and asked if Nigel, Toby (Joel’s twin brother) and I would be willing to give blood samples to also be sent off, which of course we were happy to do.
Since May we have been waiting for further information, and we have a ‘phone call booked with the geneticist in the next couple of weeks to discuss interim results. This time we will be more cautious; this island is likely to be newly discovered, and will most probably not even have a name, just a set of co-ordinates to identify it’s location. From what we have heard, it only has a very few inhabitants. We will take time to learn what we can of this new island, and if we leave our ship we will initially just pack an overnight bag. We will only settle down and make our home there when the doctors offer us our residents visa for this particular destination. Before then, we want to avoid becoming too emotionally involved in a community where we ultimately don’t belong.
Despite our caution, there is a glimmer of excitement, a hope that this will be our final destination, and the end of our journey to a diagnosis. Speaking of journeys, here is Joel at the station a few days ago, waiting for his beloved high speed train.
Joel loves any kind of transport, but particularly trains. He will happily ride around for hours, not really worried about where he is going, but simply enjoying the journey. I could learn a lot from him.