Learning about TSC was a journey I never wanted to make, writes Dr Chris Kingswood, Consultant Nephrologist and Head of Research Strategy for the TSA. My first experience, as a young medical student, was to visit a long stay ward for severely disabled children. I decided two things; not to be a children’s doctor and never to look after young people affected by a devastating illness like TSC. It was just too tough. 

Fast-forward 12 years and my contentment at being a senior trainee in adult kidney medicine and a new father was shattered by Lauren’s (My daughter’s) diagnosis of TSC. Suddenly Lesley and I had to radically alter our expectations of life and our future. Both being medical helped (Lesley is a nurse), e.g. we had both treated many people with seizures. But it is different when problems happen to someone you love.

Emotions flip continually between cool professional detachment and sadness and panic; also in those days too little was known about TSC. We did know about the huge variability in outcome. We transitioned early childhood and school years in a series of steps of dashed hopes. Most illnesses, however bad, are time limited. That allows you to move on from shock, anger & guilt to acceptance. But TSC is never ending, throwing up new challenges each year. Coping is more difficult when the grieving process never stops.  

Diagnosis and early medical care were good for us. All parents of children with a rare disease rapidly become medical and advocacy experts, filling in gaps in knowledge that handicap the doctors, nurses and teachers who are trying to help them. We started further along that process than others, and have been helped by some great teams and individuals along the way. An early highlight was visiting the Bath clinic when Lauren was 6, where John Osborne put everything into perspective; telling us what we would need to live with but also what we would not.  

Our major early fights were over schooling. Eventually Lauren was accepted into St Marys in Bexhill, a wonderful caring family of expert teachers and support staff. They helped her grow and learn; learning to read and write and sign.  

We encouraged her love of music. Her difficulties in some areas were balanced by savant skills in others (The ability to remember tunes, play instruments and her memory). Processing new information was and is very slow and requires patience, particularly from strangers.  

Education for parenthood is an on-going process. Life is a rehearsal but happens only once. We worried how Laurens problems would affect our son Mark. We did feel very guilty that we did not spot his severe dyslexia earlier; our comparators were Lauren and our own dimly remembered childhood. But in general he has coped extremely well, becoming a supportive and tolerant young man with a great sense of humour. He never had an adolescent blitzkrieg – much to our relief. For him Harry Enfield’s Kevin was a skit to play in jest rather than for real.  

Along our journey we have met wonderful people and made friends we would never have encountered. With a shared grief, shared problems and a shared mission to make things better in the future. The TSA is truly a club we would never have wanted to join but became a club we could not have lived without.  

A counterbalance to the grief that will not resolve is the opportunity to help others and spend time with empathetic people who really understand because they have been there.  

Living with TSC is a terrible strain on relationships. It makes them stronger or it breaks them. I am not sure is there is any reason or logic about which way things will go but it brought us closer together like survivors on a life raft. A wider network of a very supportive family helped. It gets harder as older members of that family shuffle off and the network shrinks. New friends and younger relatives help. 

Professionally I had charted out a path for my career, which changed drastically, despite my intentions. I continued to be a practising adult kidney specialist. At first I tried to keep TSC at home separating being a parent from being a doctor. Not too difficult as I (Like most doctors) knew very little about TSC. Things changed gradually at first. When Janet Medcalf or Ann Hunt asked me about TSC and kidneys I would say, truthfully, that I knew very little; then they would ask; “but how do you measure kidney function?” or “what is an ultrasound?”.  

At the point I first met John Osborne things flipped. I asked him, “Who is the expert in TSC kidney problems because they seem very important”? His answer was no one. No one in the UK, no one in Europe, no one in the world. Then he asked me. “Do you want to do some research?” It was a challenge I could not refuse and we sent out a questionnaire about renal failure in TSC to all UK renal units and published the results together. By stages I abandoned my previous research into hypertension and TSC took over. As Catherine Falconer wisely said it is better to focus all your resources on one problem to make a big difference than to spread them making little change to many. It comes at a cost, I is not always easy to balance busy work, active research and adequate support at home. But helping others aids staying sane; and staying sane is the first priority, the first duty.  

Our journey is not over. Lauren has refractory epilepsy, has enough independence to disengage with doctors, but needs 24-hour supportive care. It is harder as we get older and start down the path of physical frailty ourselves. But we always hope. Lauren’s mood and behaviour cycles wildly; bad days are survivable, good days are wonderful and very precious. We live in hope that each new dawn will bring more progress, for Lauren, for everyone. That improvement will be accumulate, the downs less, the ups more. Maybe tomorrow…