Rare Disease Day 2019 - A Little Bit About Tuberous Sclerosis

Today is Rare Disease day across the world which I wrote my first post about last year!

Rare Disease Day aims to raise awareness of rare conditions and how they affect individuals and their families. 1 in 20 people will develop a rare disease in their life so that's why it is important that more people become aware.

50% of rare diseases affect children.

Nola is one of those children. She has Tuberous Sclerosis Complex (TS/TSC) which looking at current figures, affects 1 in 25,000 to 1 in 11,300 people in Europe.

It is present from birth but some individuals do not learn that they have TS until they are adults. Symptoms differ from person to person as does the severity of how it affects them.
Tuberous Sclerosis causes benign tumours in different parts of the body, the most common to be affected are:

The brain, eyes, lungs, heart, kidneys and skin.

If you have them, you are born with the tumours in your brain, heart and eyes (possibly elsewhere but I'm not 100%) in other organs the tumours can develop later on. The good news about tumours in the heart is that they usually shrink as you get older. This has happened in Nola, a second ECG revealed that the rhabdomyomas on her heart had decreased in size.

At present Nola also has tumours in her left eye which fortunately don't affect her vision at the moment. She also has multiple growths in and on her brain, these unfortunately do affect her and she has epilepsy which on the whole has been controlled by medication. Unfortunately she has recently relapsed in a rare type of seizure called infantile spasms.

Some people with TS lead a next to 'normal' life whilst others are severely affected and need life long care.
TS is caused by mutations in either the TSC1 or TSC2 gene which play a part in determining cell growth. The mutations cause uncontrolled growth which results in multiple tumours in/on the body.

There are treatments for the various areas that can be affected by TS, sadly they do not always work for every patient.

So there are a few facts about Tuberous Sclerosis on Rare Disease Day 2019.

Today is Rare Disease Day!



When Nolas' seizure activity had just begun (November 2017)



Until January this year I'd not heard of  Rare Disease Day. I say I'd not heard of it but what I'm sure I mean is that it has probably cropped up on one of my social media feeds at some point but I'd not really taken much notice because it didn't affect me. As selfish as it sounds that is likely to be the honest truth.

 

However this year it does affect me, it affects us as a family. Nola has a rare condition, something that will be with her for life, something that we're still getting our heads round.

 At this point in time we have no idea to the extent she will be affected. She could have a poorer quality of life or she could lead a near to normal life, only time will tell with her rare condition.

What we do know is that she'll probably be on medication for life to help control seizures that are caused by multiple growths in and on her brain. These will need monitoring and possibly in the future two will need some sort of intervention. That is just one of the aspects of the rare condition, that I haven't named yet because we are still waiting for genetic blood tests to confirm it.

 

Rare Disease Day takes place on the last day of February every year. Did you know that 1 in 17 people in the UK have a rare disease? Not as rare as you may think but there are thousands of rare diseases, most are not curable. So the aim of the day is to raise awareness of rare diseases to make the public more aware of the challenges some people face and encourage more research.

 

I will always remember Rare Disease Day now. Nola is my 1 in 17.