Rare is many. Rare is strong. Rare is proud

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29th February 2020 marks the 13th annual Rare Disease Day. Rare Disease Day, a global movement highlighting the voices of people affected by rare diseases around the world, is a vital opportunity to raise awareness of the 1 in 20 people who live with a rare disease, like TSC.

This year’s Rare Disease Day theme is ‘Rare is Many, rare is strong, rare is proud’. We are using Rare Disease Day to champion the amazing resilience, passion and bravery of parents in the TSC community, who work tirelessly to improve the lives of their children who live with TSC.

One parent, Bobbie Tyler, who took the time to tell us about her experiences of being parent to Jennifer, her daughter who lives with TSC:

“It has almost been like living on a different planet to those with “mainstream” children, as many of the milestones and opportunities parents may take for granted don’t apply. In the early days, it was even difficult to persuade the GP that Jennifer was having seizures and so her initial treatment for epilepsy was delayed. Once full diagnosis was reached, however, we couldn’t fault the staff at GOSS and our then local hospital in Chelmsford, Essex. Now, with Jennifer being seen by the wonderful staff at the TSC Supraregional Clinic at Bath Hospital, we know she is in safe hands.

We sought support from professionals, but no one really understood. Only the parents who are also part of the TSC community truly know what we were going through.

We were always able to “block out” the possible health issues of TSC (kidney involvement, resistant epilepsy etc.) but it was always the behavioural difficulties which challenged us. We sought support from professionals, but no one really understood. Only the parents who are also part of the TSC community truly know what we were going through. TSA conferences and family weekends were our lifeline.

Then, we found out that special schooling stopped at 16 in Oxfordshire (unlike Essex and other counties). We were part of the parent group to change this thankfully and Jenni stayed until she was 19, although then went to college to study “life skills”. This didn’t continue to 25 as it does elsewhere, but Jennifer has a full week: one day as a co-farmer on a working farm (supported by our friend), other days with two charities: Yellow Submarine (Monday night club and Tuesday Compass project) and HFT where she enjoys cooking, art, bowling and pottery (but is unfortunately closing soon following local authority cuts).

Jenni’s epilepsy has always been intractable and includes tonic-clonic, tonic, focal aware, unaware and atonic seizures, despite being on high doses of three anticonvulsants. So, when it was mooted that Everolimus may become available for TSC sufferers, we were hopeful. Of course, it wasn’t available for TSC epilepsy in England and we couldn’t obtain it for inoperable SEGA or kidney AMLs, because Jenni’s brain tumours and AMLs were too small at the time. With other TSC families we joined the national campaign to change this, and with the help of the TSA, family, friends and our local MP, plus two appearances on BBC South News and local press (Jenni was a star) the decision was reversed. Jenni finally started on Everolimus last September and even though there isn’t a huge change to her epilepsy so far, apart from a marked reduction of her drop attacks and focal unaware seizures, one of her AMLs has shrunk slightly and her facial tumours have diminished substantially, so we feel hopeful, and both Bath TSC Clinic and Jenni’s Neurologist at the John Radcliffe in Oxford, have agreed to continue the treatment until it is reviewed again in May.

Being members of the TSA and engaging with other families going through similar experiences is a real lifeline.

Jenni’s behaviour is still challenging to us, but she has matured into a beautiful young lady. I left my job last November and am seeking part time, flexible employment. TSC really can impact on parents’ health and well-being!

Being members of the TSA and engaging with other families going through similar experiences is a real lifeline. Steve and I were more active in the society in the early days (I was a “rep” for Essex families and an active member of the Fundraising and Appeals team and Steve was Chair of Research and on the Board as a Trustee) but we still attend conferences and other events and keep in touch with other families via the Tuberous Sclerosis Mums & Dads UK group on facebook. TSC may be a rare disease, but its sufferers and their supportive families and friends are an amazing bunch of people who should be celebrated!”

Would like to share your TSC story, like Bobbie, to help raise awareness of TSC? Contact us at comms@tuberous-sclerosis.org / 0300 222 5737

Make a one off or regular  donation

£10 Means that we can send a support pack to a family who has just received a life-changing TSC diagnosis, ensuring that they do not go through this time alone.

£25 Can help us develop materials that are included in our support services, flagship events or campaigns.

£50 Can provide laboratory equipment for a day’s research into the causes, symptoms, management or treatment of TSC.

To provide help for today and a cure for tomorrow.