Today is TSC Global Awareness Day. You might ask what is TSC? It stands for Tuberous Sclerosis Complex. Tuberous Sclerosis affects the eyes, skin, brain, kidneys, liver, lungs, and some also have epilepsy.
I have Tuberous Sclerosis Complex and so does my youngest daughter Jennifer. I was officially diagnosed when she was 1. TSC in my case was a mutant gene, however once you have this rare disease the chances of having a child with TSC is 50/50. 1 in 2 chance of having a child with TSC. I do remember my parents being tested which came up clear. I am the youngest of 4 so the chance of my sisters or brother having TSC was ruled out when my parents tests came up clear. This meant something happened with the genes when i was conceived. When I was 6 or 7 the doctors removed some facial lumps off my face as they thought these were cancer. They also did radiation on my face and now it looks like this radiation has caused the Thyroid disease I now have. As a child I remember going to school showing off my scars. Show and Tell. I however have no recollection of these tubers being removed. It’s funny how we can remember some things and not others. I suppose that’s a good thing.
TSC affects everyone differently, some mild often going through life without even knowing they have this disease. Some as myself do not know until they have a child born with TSC. Others are severely affected and will need ongoing care for the rest of their life.
Jennifer was diagnosed with seizures at 6 months and at 1 with Tuberous Sclerosis. When i was 3 months pregnant with her, bearing in mind I had already had 1 daughter, they discovered I had large kidneys. My doctor at the time was amazed that no one had noticed my large kidneys when pregnant with my first child Sarah. I was sent to Kidney specialist where I was given a biopsy to rule out cancer. The results came in that I could continue with the pregnancy. When I was due to have Jennifer I went down to Perth, I was living in a remote country town called Derby in the far north-west of Western Australia. After her birth, I stayed in hospital for a bit longer where a whole lot of tests were done. I only remember some scans but these let the specialist know I had what they called polycystic cysts on them.
So when Jennifer turned 1 we had to go down to Perth for her to see a neurologist as she was having more seizures. I also went and saw the Kidney specialist who after hearing the diagnosis of Jennifer with Tuberous Sclerosis he advised that’s what I had. As I already had one child without TS he was hoping that she would be ok.
I would have 6 monthly appointments to ensure my kidney function was good and that was about it. On the other hand Jennifer was having a hard time. Her seizures were not controlled and they kept changing. Over the years we found that she was intellectually disabled, had Autism and behavior problems. These are all part of Tuberous Sclerosis.
Jennifer now lives in a group home where she has full-time care. She is 37 years old however is about a 3-5 year old in most things.
TSC affects most of my body. I have Angiomyolipomas (AMLs) on my kidneys and liver. I have all the skin manifestations, see link below. I have a little bit of calcification on my brain. I also have lung disease called Lymphangioleiomyomatosis or Lam for short which is another rare disease.
Currently I see a Lung specialist , a Dermatologist and a Rheumatologist at the Alfred Hospital in Melbourne, I also see a Nephrologist at the Royal Melbourne Hospital. As you would have read earlier I was seeing a kidney specialist. I was living in West Australia at the time I was diagnosed. Years later I moved to Victoria and did see a kidney specialist at the Royal Melbourne Hospital who in turn said I was fine and didn’t need to keep going to the clinic. So I have managed my TSC via my general practice doctor. The Dermatologist at the Alfred Hospital has prescribed me a new cream for the tubers on the face. These tiny little tubers would bleed if knocked or when I had a cold and the constant rubbing of tissues or hankerchiefs would be enough for them to bleed. They would bleed for hours, this is what can happen with the kidneys. This new cream has reduced the redness of the nose and cheeks. The little tubers at the side of the nose have gone, disappeared. How great is that! This new drug is certainly a wonder drug. Mind you it’s not cheap!
I have recently started taking Affinitor or Everolimus a mTOR to hopefully reduce the size of the angiomyolipomas. My dose is low and I will raise it slowly. Initially I started a high dose and within 5 days my ankles and feet were like balloons. I was instructed to stop taking this high dose. It took as many days off it to have the swelling go down. While I am taking Affinitor I won’t be needing to use the cream. Thank goodness as it keeps the cost down. The mTOR drug is on the PBS and as I am on a disability pension its cost is only $5.20 a month.
I have added a link so you the reader can click and go over to the Tuberous Sclerosis Complex Australia page and learn a bit more about this rare disease.
I thank you for your time in reading this. If you have any questions do not hesitate to ask me.