Adam Crème is a husband to Danielle and father to Zach and Tyler. He shared his story at the BBS UK Conference in September 2022.
If you’d like to hear Adam’s story in his own words, click here to take you to our YouTube channel.
Hearing or thinking about BBS filled me with fear and anxiety up until very recently. Even though it’s been a long time since Zach’s diagnosis, today is the first conference we’ve attended. I wasn’t sure what effect sharing my personal perspective would have, but my fears were superseded by my overwhelming desire to try and help others avoid some of the pain my wife and I have felt over the years.
We were filled with excitement when Danielle became pregnant and never contemplated there being any health issues with our baby. Even after a Professor was called in to an appointment and asked us whether polydactyly was common in our families, which it wasn’t. We enjoyed preparing for Zach to arrive with the usual antenatal classes and copious amounts of baby shopping.
When Zach was born, he was given a clean bill of health and referred to GOSH to have his extra fingers monitored and removed. Zach didn’t learn quickly, and his speech and movement development was slow. He loved food and put weight on easily. We thought nothing of it because all babies develop at different stages, don’t they?
After a routine optical appointment, I was given the devastating news that Zach had Retinitis Pigmentosa and that Zach would probably lose his sight completely. That evening was a total blur. We cried, we showered Zach with more love and cuddles than ever before, cried some more and put him to bed. We then opened the alcohol cabinet to try to get some relief from the pain, but it had no effect.
Why us? Why Zach? It’s not fair.
We decided to only tell our immediate family. For me it was not about shame, it was about allowing Zach to have the most normal childhood as possible, without people treating him differently. This decision had a huge impact on myself and Danielle’s mental health.
It was in the early years that I suffered with my first bout of depression. I sought professional help through medication and counselling, and eventually after several severe relapses and different counsellors, I came to terms with Zach’s condition, and my own issues.
But everyone is different. My wife has been unable to talk to professionals and deals with it her own way. We’re both different people now. From fun loving and carefree to a couple with a weight on our shoulders and a dark shadow looming over us.
A gene specialist referred us to Professor Phil Beales at GOSH who first introduced us to Bardet-Biedl syndrome. He explained that every child with BBS was different, with varying symptoms and that there was no timescale that could be accurately applied to when or if these deteriorations would occur. When Danielle became pregnant with Tyler, there was no way for us to know if he would also be born with BBS as the mutated gene within Zach hadn’t been identified yet. It took 7 years before we knew which gene was mutated.
We got excited over potential treatments and therapies we researched online, but this was soon replaced by dread after reading contradictory research. Danielle became obsessive about Zach’s food, spending hours reading labels in the supermarket for the lowest fat treats. We were determined to teach him to eat healthily, but I felt terrible that he couldn’t have the same treats as other kids.
Zach finished primary school without the need for an EHC plan although we spent a considerable amount of money on private speech therapy lessons. When Zach started secondary school, he needed additional help, so Angela at BBS UK provided us with great support on the long and arduous journey of getting an EHC plan. Initially, Zach was incredibly reluctant to make use of the teachers assistant, however over time he has appreciated their help in ensuring he stays in mainstream education. He performed amazingly in his GCSEs and is currently in his final year studying for a BTEC in Business.
His vision remained OK, but he suffered from night blindness from an early age. It didn’t seem to bother him but it gave me incredible anxiety to think that one day he might not see at all. The kids thought it was great that we skipped the queues at Disneyland with an accessible pass and went on every single ride in one day. However, I longed to be stuck in 2-hour queues like everyone else. We’ve since learnt to accept the benefits, such as free carer tickets and being fast tracked at airports.
Zach never asks any questions about his condition, even during our frequent trips to the BBS clinic or to his ophthalmology appointments. He never complains about all the tests, except for the eye drops. Zach has always been a content and happy child. He loves football, plays FIFA, and going to watch West Ham every week. But I’m always concerned that the things he loves so much will one day be taken from him.
Zach started using a cane two years ago, and I was amazed that my inbuilt repulsion of seeing a cane disappeared as soon as I could see how much it helped him. We could no longer hide the fact that Zach had a vision impairment and as a result became more open to confiding in friends. People know Zach has a syndrome, but I’ve not told them the name or any of the other more personal symptoms. He’s a young man now after all.
The fitness study Zach participated in was a huge benefit. We were so lucky to be paired with Steve Berman at GOSH, who bonded with Zach immediately. It was a total no brainer for us to continue on with his personal training. Zach has also been playing football for an inclusive team for over 5 years and I’m now one of the coaches. He has grown up with our favourite word “moderation”, and leaves food on his plate when he’s full, self-regulates, and has an incredibly low BMI. We’re so proud of him for that.
When Zach was 12 and Tyler was 10, Tyler overtook him physically and mentally which caused some issues amongst the family. A few weeks ago, we finally told Tyler everything about Zach’s condition. This was one of the reasons that we decided to finally come to conference so that he could talk to other siblings who would understand him.
If I’m honest, we approached all the BBS clinic appointments with dread, praying for no deterioration or added complications. Tonia and Angela at BBS UK, and Kath and the team of doctors at GOSH have always been so welcoming and supportive. I’m ashamed to say that we’ve avoided other families with kids with BBS. This isn’t because we’re unsocial or uncaring but due to fact that by talking to others we would have to accept the reality that Zach has BBS. I think we’re past that stage now.
It’s been a journey that none of the family wanted, but I’m finally at the stage of acceptance where I’m ready to move forward. Hopefully during the conference, I can gain information to help us plan the family’s future, Zach’s further education, a job, and the rest of his life.
In typical Zach style, he didn’t ask many questions when we talked about BBS and the conference. I hope that attending the conference will help him on his own path to educating himself. Zach is an amazing young man that surprises me daily and I’m looking forward to him surprising me much more in the future.