Its Rare Disease Day on the 28th February so I wanted to share a bit more about the two rare diseases that my youngest daughter and I have.
When I was young around 6 I had some suspicious lumps removed from my face. I remember having them and then not having them. I know its weird. What happened in the middle I have no recollection. Paula said I had radiation on them as they thought it was cancer. I remember going to school showing off the scars. As any 6-year-old would do. The only problem with the radiation is that it’s what probably brought on my Thyroid disease. These “lumps” were actually part of a disease called Tuberous Sclerosis. I was not to be diagnosed until I had my second child. As a parent you always want to have a healthy child. You hear it often enough, ” I don’t care what sex it is as long as its healthy”
This disease, Tuberous Sclerosis has always taken a back seat to all my other conditions.
When I was 3 months pregnant with my second child, on a routine test, the doctors said my kidneys were very large. I went into one of the main teaching hospitals in Perth and had a biopsy. This was back in 1980 so this was the only way to check for cancer. I remember laying so still while I had the biopsy. It didn’t hurt, it was just uncomfortable. For 24 hours after I had to lay flat and still to ensure there were no bleeds. The one thing I remember was the food. It was like a puree especially for people who were having dialysis. The young girl next to me was on dialysis. I laid on the bed looking at the machines keeping her kidneys going.
I was given the all clear from the medical staff I could continue with the pregnancy and once the baby was born they would do a lot of testing to find out what was going on with me. We were living in Derby in the far north of Western Australia and with the wet season bearing down we were flown down to Perth to prepare for the birth. As my first pregnancy had many complications they didn’t want me to be stuck in a town with limited facilities.
After she was born, I spent 10 days in hospital having numerous tests done. Every day, scans and lots of blood tests etc. I only remember one, it was a water-bed ultrasound. It was so comfy even with a full bladder. The others I have forgotten about. They must have been horrid.
When she was 14 days old, the 3 of us flew back to Derby. Their father had already gone back up as he had to work. I was told to come back in 12 months for a follow-up with the specialist in kidneys.
So we go back to Derby with not a care in the world. We had two beautiful girls all was right with the world. Who knew that our world would come crashing down around us.
When she was only 4-6 weeks old we noticed that she was experiencing jerking movements. If I was feeding her she would latch onto my breast and her whole body would stiffen. If she was laying in the baby bouncer, her little body would jerk.
Her eyes wouldn’t actually look at you either, like she wasn’t able to focus. When her body would jerk her eyes would roll.
As a mother you just know! My first child Sarah had been born premature. Yet she was always ahead in all her milestones. So when your second child who was only 10 days early wasn’t sitting up etc when they are supposed to, you begin to worry.
In those days you actually took your baby to a health nurse who did all the milestones. Weigh them etc. The health nurse was concerned about these jerking movements and that she was slow in her milestones. The nurse organised a visit to the local hospital. Jennifer was admitted to hospital for observation for a few days. After several tests they said she had epilepsy and then the beginning of all the nasty drugs she would be on. Phenobarbitone was the first drug they tried on her. It was bitter and the poor baby would shudder and she would splutter as I tried to get this horrible concoction down her throat. I know it was bitter as I tasted it. Horrible muck.
The specialists that would come to visit Derby organized a specialist appointment for Jennifer with one of the top neurologists in Perth. They were concerned as even with the seizure drugs she was still having infantile spasms.
So when Jennifer was turning one the four of us drove down to Perth. We would be staying with my parents while both us were having these appointments.
The neurologist did a few tests, used what they call a woods lamp on her.
The diagnosis was in.
Tuberous Sclerosis. Two words that I had never heard of before and two words I wished I hadn’t heard.
We were told the prognosis wasn’t good. Life expectancy would be around 10. Take her home and love her or put her in a home and forget about her.
We went back to my parents and I finally cried. Why us! Why her!
This beautiful little baby. I said I would prove them wrong. No one was going to say my daughter was going to be no more than a vegetable. Yes that is what we were told. How could they say this about our gorgeous baby .
Then I went to see the Prof at Sir Charles Gardiner Hospital. He asked me how my baby was. I told him she had just been diagnosed with Tuberous Sclerosis. He went quiet and said “Oh no…..pause……I diagnosed you with Polycystic kidney disease. I think I am wrong that you may have Tuberous Sclerosis. He did a few more tests, looked at my skin etc.
The look on his face when he told me that I too also had this disease. I wanted to know what my prognosis was and was told that I would have to have more tests and be monitored by blood work every year. I asked him what was the worst thing. Kidney Failure or a major bleed. I asked him how I would know if I was having a bleed. He just said that I would know. I hope so.
I went back to my family and I cried.
We went back to Derby but decided that as we both had this disease that it would be better if we lived in a city. Where medical help was right there. No chance of being cut off, due to cyclones and floods.
I then wanted to learn as much about this disease as I could. The library in Derby managed to get a medical book in for me. One very small 4 line paragraph was all there was about this disease. I couldn’t believe that was it!
4 lines, that was it!
Today if you type in Tuberous Sclerosis into google there are pages and pages and so many organisations all over the world. Facebook has lots of support groups where I have met some amazing people.
Life continued on for us. Jennifer, has the disease quite bad. She is intellectually disabled, has autism, behavior problems. Once we moved back to Perth she saw the neurologist on a regular basis. Many changes of drugs. Many different types of seizures. From petit mal – absent seizures to drop seizures. Many sprints to the doctors for X-rays to see if any damage was done. Eventually she was fitted with a helmet so as not to crack her head each time she dropped.
Lots of therapy with social workers.
Today many children are diagnosed while in the womb. Medication is given very early within the first few weeks of life. If they can stop the infantile seizures then there is less chance of intellectually disability. There are better drugs for the seizures.
She now lives in assisted living. Most of the time she is happy. She loves shopping, music and eating. Jennifer goes to a blue light disco every Thursday and she loves it. She has done abseiling, yoga, cooking, boating. Jennifer has been on a couple of holidays, one a cruise up to Queensland and also to the major theme parks on the Gold Coast.
Five years ago I was diagnosed with Lymphangiomiomatosis. It’s a rare lung condition, however, its unfortunate if you’re a female and you have Tuberous Sclerosis you are more likely to have Lam. I think the stats are around 80%.
Over the years I would get sick with a lung infection then pneumonia every 3-4 years. I would use a puffer for a short time then be ok and stop using them. Antibiotics would always be given as well.
I realize now that my asthma and the lung infections has always been the Lam.
I noticed that after Jennifer was born was when I began to get sick with these awful chest infections. Lam seems to get worse with the hormones of pregnancy.
Just recently Jennifer was also diagnosed with Lam – Lymphangiomatosis. I am hoping that its mild and it will not affect her too much.
There are two types of Lam – Lymphangiomiomatosis, TS/Lam which is what Jennifer and I have and there is sporadic Lam.
With Tuberous Sclerosis its a 50/50 chance of having a child with TS if you have it. I was what is called a genetic mutation. So the rest of my family do not have the disease. I am the youngest of 4. When I was diagnosed my parents went through genetic testing.
I have just started taking Everolimus mTOR inhibitors to control the Angiomyolipomas (AMLs). They are a benign tumour in the kidneys made up of blood vessels (angio), muscle (myo) and fat (lipo). They occur in about 80% of people with TSC. I am hoping that this new drug I am on will stop the angiomyolipmas from growing and in fact shrink them. It can also help with my Lam disease and the facial angiofibromas. I have been using a topical Rapamycin on my face and it has reduced the redness and some of the “lumps”. These would bleed often if knocked or if I had to blow my nose. Often doctors would ask me if I had been diagnosed with Lupus as it looks very similar to the butterfly rash. Actually TS calls it a butterfly rash as well. Growing up and wanting to wear makeup was a nightmare. Since I have been using the cream, I have been able to wear a bit more makeup which is nice.
If only one person learns a bit more about these two diseases then I am happy.
Thank you so much for reading. I could have written so much more and maybe I will in May this year when its Tuberous Sclerosis awarness day and in June for Lam.