I consider myself very lucky and privileged to have spent the last 30 years working with people and their families who have Tuberous Sclerosis Complex (TSC), writes Dr Charles Shepherd, of Belfast Hospital Trust.
It is a fascinating condition, in that there are some many variations of the condition. It is also a terrible condition for the people who are afflicted with it. To be able to help to try and overcome these difficulties has been a truly enriching experience. I have also had the privilege of working with some wonderful health professionals and the people who started and ran the Tuberous Sclerosis Association (TSA).
In my reflections on my journey in TSC, I have a very special place in my heart for the TSA. I think it is a wonderful organisation in representing parents and patients. I must pay special tribute to the founders of the organisation, especially Tom and Ann Carter, Graham Harker, Ann Hunt, Janet Medcalf and Northern Ireland’s own Maureen Algie. They were relentless in helping to establish the TSA, promote research and improve the care of patients and their families. Sadly Janet and Ann are no longer with us and are greatly missed.
My journey began in 1987, when as a newly appointed senior registrar in the Royal Hospital for Sick Children in Glasgow (RHSC). I approached John Stephenson the consultant paediatric neurologist about doing some research. He introduced me to Julian Sampson who was undertaking a population study on TSC in the West of Scotland. I was asked to undertake a study of the different types of seizures seen in the patients in the study.
This I did over the next two years. I bought at great expense an Amstrad 1640 computer which was considered top of the range to help. Nowadays it seems like something from the stone age. I had to combine this study with my clinical duties and my work as part of the RHSC child protection team. Also there was the small matter of 3 young children. Not easy!!!!
I had by then discovered the expert in TSC was Many Gomez who worked in the Mayo Clinic in Rochester, Minnesota. One day feeling very frustrated by yet another call from A and E requesting help on child protection, I wrote to my uncle, John Shepherd who was a physiologist at the Mayo. He contacted Many and he accepted me as a research fellow at the Mayo.
I approached Anna Louise, my wife, who being always game for an adventure told me to go for it. We overcame all the hurdles like getting funding and having to let the house. At the last minute Glasgow Health Board pulled out of funding me as they promised and the TSA stepped in to encourage me to go. Thankfully the Health Board changed their mind and gave me some money. Thus with the help of the Health Board and the TSA we were able to set off on our adventure.
In July 1989 we flew from Dublin to Rochester, Minnesota via Boston and Minneapolis which was an adventure in itself. We settled in a house and bought some furniture and a car. We then spent the rest of the summer exploring Minnesota and I started my research going through the charts of 345 patients with TSC who had attended the Mayo Clinic.
I was a really good year, no nights on call, and a chance to work with some really outstanding doctors. There was Many himself, Bernd Scheithauer (now sadly deceased) with whom I did the study on brain tumours, Wayne Houser with whom I studied MRI scans and Len Kurland who facilitated the Olmsted county population study on TSC. I was able to publish several papers originating from the work I did there.
Towards the end we took 2 memorable trips to Yellowstone national park and up to visit Anna Louise’s relatives in Canada. Our children, who are now all not children, still talk about these two trips.
We came back to Glasgow in July 1990 and to the RHSC. I continued to work on my papers and prepared to write up my research as an M.D. I also stared applying for consultants posts which brought me to Craigavon in April 1991.
For the next few years I concentrated on keeping my head above water as a busy paediatrician, looking after our now 4 children and finishing my research. This culminated in the award of an M.D. in July 1995.
At that time the TSA were actively starting specialist TSC clinics in which the person as a whole was cared for and not just one particular system. We were eager to progress this. I stared with Prof Nevin in 1996 in Craigavon and unfortunately it never really took off. The management there really did not get the point.
Prof Nevin was able to start the clinic in Belfast City Hospital and Hilda Crawford came aboard as the TSC specialist nurse. When Prof Nevin retired, Patrick Morrison (now Prof) took over and I think that is when the clinic really took off. I also need to acknowledge the input of Shane McKee who also helped.
We compiled a database of all our patients in Northern Ireland. This has been excellent in providing data for studies but also has been excellent in maintaining an excellent standard of clinical care. We are able to identify those patients that need the relevant scans.
I have been fortunate in working with really a great group of people in the Belfast TSC clinic. Hilda has now sadly gone on to a life of commuting between Paris and Sydney but is greatly missed. Tara O’Neil came and in a short time made a great impression. Then marriage occurred and off she went to her native Dublin.
The present team of Deirdre, Patrick, Claire, Rachel and I work very well together. Our only aim is to provide top class care to patients in Northern Ireland with TSC and if we can improve it.
For me I have really enjoyed my journey through TSC both research and in particular looking after patients.