my baby has type 1 she has a large tumour in her heart but doing well. We r fighting with the docs 2 get them 2 test my other children as my husband shows 2 signs of tsc but they just want 2 test him. We have been through so much and just need 2 know how many of our kids have tsc? They say we couldnt cope if we got positives 4 the kids but we need 2 know i dont know what 2 do 2 make them understand.

Dear Mum Of Six

(Haven't Put Your Name) So sorry to hear about your predicament with regards to you children & husband being tested for TS. TS or TSC as it is also known is a very complex disorder in that it can miss a generation or affect all generations in a family. It is also known for TS to affect a child where there is no known history of the disorder. The reason they want to test your husband is probably because it has come from his side of the family so there maybe family members on his side who also carry the faulty gene. I am one of 3 sisters who has the condition one of my sisters died aged 17 from a brain tumour (possibly TS related) she was one of identical twin sisters and her other sister (my sister also) is still alive to this day.

I only found out i had TS when i was 34 years old that was 13 years ago. I have a 17 year old son who is TS free- so far! My mother was the initial carrier of the faulty gene as was her mother before her and i am aware that there were 2 other members in her family apart from my grandmother with the condition- my mother and one of her brothers. She came from a family of 8 so i don't know how many other members of the family were affected if affected. I had epilepsy when i was younger but it left me in my late teens/early 20's but has unfortunately over the last 6 years returned so i am back on medication for the forseeable future. I did not know at the time that epilepsy was part of having TS but unforutnately TS was something my mother never discussed with me but i have made sure that my son knows about it. I have just found out that my TS is on the TS1 gene and i am waiting to go back and see my genetecist to explain it further.

I have TS on a mild form but i have many problems socially i.e. making friends & keeping them and have mild learning difficulties. I hope everything works out for you and your family and please keep in contact with the TSA thru this website i am sure there will be someone who you can speak to who can help or someone who can direct you to someone who can help. Good luck to you!

Best Wishes

Vicky Mason (TS volunteer organiser & member)

hi

there are 2 genes where the mutation to cause tsc can happen, tsc1 and tsc2.

It is generally thought that those with the tsc1 mutation will have milder features of tuberous sclerosis than those with the tsc2 mutation.

My son has tsc2 and it took 6 months to find the mutation, myself and his dad were then tested and this took 2 weeks to do. in 80% of cases the mutation is found and in the other 20% it is not located tho this does not rule out TSC.

People with the same mutation can have features that differ greatly which is what makes an outcome so difficult to diagnose.

Hope this has helped.

Caroline

Hi Everyone,

Thanks for that post `Harry's Mum` i now know that i present with the TSC 1 gene and that it holds the more milder symptoms of TS. My geneticist sent me a letter a few months back but i still felt very much in the `wilderness` as to how badly the TSC1 gene affected me and thank you so much for pointing out the differences in the 2 genes as to how sufferers are affected i was in the wilderness a long time with this not known how badly affected i was but now i know. I always knew i had TS mildly but didn't exactly know if i was on the TS1 or 2 gene. The things you find out when you come on to this forum- sometimes its better than going to a doctor as you can find out more from others with the same experiences or who have family who can relate to your problems. Thanks again.

Vicky Mason

ah i know exactly what you mean. The times i've gone to the doctors with harry and had to explain to them what TSC is. Crazy!

so far i only really know the features that harry has presented with. When a new one appears then i hit this site to find out as much as possible.

it has been a god send. i mean when you first google tsc and you read all that information it scares the life out of you.

Half the time i feel so isolated with not many people being able to relate to how life is. Its nice to know you can log on here and connect with others in the same boat.

Caroline