Running Up That Hill

by Daniel's Mum

Daniel came into our world on the 11th July, 1996. The most beautiful little slip of a thing with shocking red hair. My husband has black hair and I have brown, so of course I had to put up with endless jokes about the mythical ginger postman! After a rollercoaster pregnancy, I was relieved to finally hold my little man… to my confusion, Dan had one extra little finger, perfectly formed and although we didn’t know it at the time, it was the start of his and our BBS journey.

Dan’s failing kidneys were picked up at around five to six months and many tests followed at Great Ormond St Hospital, with Dan being diagnosed at around ten months old. There was no explanation of what BBS was and in those days, no internet. In the local library I found a book explaining the symptoms of BBS, in out of date and brutal terms. Time stood still a bit. We knew about the kidneys, extra finger and weight issue, however the potential learning difficulties and visual impairment was a shock. It was our genetics counsellor who told us a bit more about the syndrome and the LMBB Society and this was when we first made contact with Drina Parker.

After the wait to get pregnant and the roller coaster of pregnancy and childbirth, when things are not as they should be, it is important to allow time to grieve for the life we thought we would have and accept the one we are living. Raising a child battling illness and disability is an incredibly intense experience, especially when there is delayed development; every moment and milestone is so precious. As many BBS parents have experienced, having a child with disabilities tends to sort your friendship group out for you. It is hard to raise a baby with developmental delay, obesity, kidney failure and visual impairment in close contact with other, apparently healthy babies. There is too much comparison and too many competitive and sometimes unkind or thoughtless parents. I withdrew for a short time and my parents cocooned us and provided the love and support needed to get through the difficult early days of diagnosis and acceptance. They are our greatest cheerleaders and we simply could not function without them. Over the years, we got a grip on all things BBS, accepted our lot and woke up to the fact that very few families and people in life escape unscathed.

By the time Dan reached school age, I realised that it wasn’t about me… there is nothing like the pain of watching your child struggle and suffer… but ultimately, we can leave the BBS mantle at home and go out socially and recharge. Our children have to live with BBS for the rest of their lives. Our role is to be their parent, their friend, their advocate and their cheerleader and help them make their lives as good as they could possibly be. There is no one else in the world who knows our child like we do, and we have to take this on board and make ourselves heard. Maintaining good relationships with the key people in our children’s lives is vital, but we have to believe that we are an equal partner with medical, social and educational teams, whether they do or not. We have to use the resources available to us, to give our children the confidence, courage and self-esteem to know that they have a great deal to contribute to this world.

Sometimes this is easier said than done and there are just too many hills. I was at the House of Commons recently for the Rare Disease Reception and an MP spoke very passionately about the delegates in the room, who were all either parents or rare disease patients. She praised and thanked us all and asked us to keep pushing our MPs, to keep rallying and protesting and demanding to be heard. This made me quite cross. Isn’t it enough that we have to fight at a local level for our children to have access to decent health, education and social care, while at the same time cope with the demands of looking after our families, in between hospital stays and appointments? And of course, we are not immune to the life events that affect everyone else, in fact, families like ours are more susceptible to illness, relationship break-downs and financial hardship. I think one more glass of wine and I may well have started a riot!

As a family, we had three major worries when Dan was little, his weight, his eyes and his kidneys. Between four to five months, Dan ballooned from normal weight to clinically obese and like other BBS mums I spent the next X number of months and years explaining to all and sundry that I really wasn’t over feeding him! He was an enormous baby, however we were strict, maintaining portion control and limiting treats to special occasions and although he was always chubby with a BBS tummy, we managed to get his weight under control. At around 15, Dan finally started shooting up and the excess pounds melted away. Dan has grown up with a conscientious attitude towards food and now manages his diet beautifully.

When Dan was three, his little brother, Connor, came along. Con was a gorgeous little boy, a ray of sunshine and he and Dan were good friends. It was hard on him though, as it is for all siblings of children with illness or disability; there was no child on this earth more loved, however he perhaps inevitably felt that Dan was more important and his self-esteem suffered. We worked hard at getting things back on track and although it took a while, we got there. Connor has grown up into a funny, loving, typically moody teenager, who loves his brother and is passionate about disability rights and the LMBBS.

Over the years, Dan became increasingly unwell and in early 2006, a viral infection put him on the path to transplant. My kidney was transplanted into Dan at Great Ormond Street Hospital. Daniel was only ten years old and was incredibly brave. He had been needle phobic his whole life and during this period, endured so many needles, canulas and tubes with absolute courage. By day two, Dan was off morphine and on paracetamol using the Playstation as a distraction. Meanwhile across at the Royal Free, I was hyperventilating because the morphine drip wasn’t working fast enough!

I missed Dan and Con so much but thankfully once Dan was discharged to the GOSH patient flat, we were able to be a family again. It was a tough few months for all of us, however we muddled through and came out stronger, individually and as a family. Dan’s kidney continues to do well.

Once we had all settled down after the transplant, the next worry reared its head, Dan’s vision. Dan was diagnosed with retinal dystrophy at around a year old and we settled into the routine of yearly check-ups. Not long after the transplant, at an ophthalmology appointment at our local hospital, the consultant was quite frank in front of Dan. Although Dan knew about BBS and his vision, it was a shock for him to hear it like that. The transplant had taken his mind off the long-term implications and he suddenly had to face it again. This was one of our more painful moments, seeing that realisation hit home. Running up that Hill is a song about swapping places – there have been so many times when myself and other parents like me have wished that we could do just that. We made our way home, all lost in our thoughts, when out of the silence, Dan pipes up ‘Horse walks into a bar, barman says…Why the long face!’ We were laughing and crying – a touch of hysteria I think.

You could be forgiven for thinking Dan was a joker and happy go lucky little boy but that couldn’t be further from the truth. Like many with BBS, Dan struggles hugely with his emotions. When he was little, emotional outbursts were a regular occurrence – the terrible twos (and threes and fours) for a BBS child, (and parent) are truly terrible! This phase passed, however the emotional difficulties remain, which makes it all the more remarkable how well he has coped with the various challenges over the years. I didn’t know whether to laugh or cry when I first saw him hook his finger over the cup to judge when it was full, it showed that his sight had deteriorated, but also showed a natural resourcefulness that would be invaluable.

When Dan was little I found the uncertainty difficult; we knew he would become visually impaired but we didn’t know when, we knew he would need a transplant but we didn’t know when. I wanted to know it would all be ok in the end. It was painful and difficult at times, but we got through it… You can rely on the clock to keep ticking and eventually it is over. The treats helped too! We had great fun with our caravan, we visited Legoland many times and Disneyland Paris thanks to Dreams Come True. We also threw caution to the wind and re-mortgaged to take the boys to Disneyworld Florida and to Egypt so Dan could fulfil his wish to see the tombs and pyramids.

So where are we now? Dan has endured much in his 18 years. There have been difficult, ignorant teachers, bullies, endless medical tests and interventions. He has had to cope with understanding the condition he was born with and the implications it holds for him and his future. But during this time, Dan has kept his identity. He isn’t defined by his weight, his vision or by BBS. He is a bright, funny young man who grew up on Disney, Dr Who, Star Wars, Lord of the Rings, Lego and computer games. He is developing an interest in politics, he loves Ancient History, Miranda, QI and comedians in general and he does not suffer fools gladly. Despite the many challenges, Dan has kept an eye on his future and has developed the drive to take him there. A failed sixth form placement gave him the determination to try boarding at the Royal National College for the Blind in Hereford where he is studying IT, Braille and Business. He is going to university in September to continue studying IT and we couldn’t be more proud of him.

Dan is not alone though. I have met many children, young people and adults who have BBS at conference and clinics over the years and their bravery, courage and determination in the face of disability and illness is inspiring. I have also seen so much achievement within our group, whatever the passion. We have successes in business, sport, in the workplace, (paid and voluntary), music, art as well as academic, there is a great deal that can be achieved. As a family, we were fortunate to learn this, early on at our first conference when Dan was just two years old, which gave us so much hope for the future. We met Steve Burge and shortly after, Graham Longly and Richard Zimbler and over the years more and more of you have shown us all what a great future our children can have.

We have come a long way since then and owe a debt of gratitude to so many. Thank you.