On the 28th February every year marks Rare Disease Day. This year its on the 29th February – Leap Year. I have two – Tuberous Sclerosis and Lymphangiomiomatosis.
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”
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 a puree 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. Scans and lots of blood tests every day. I think by the end of it all I was like a pin cushion. 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 I 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 born 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 have yearly blood tests. 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 home 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 wanted to learn as much about this disease as I could. The library in Derby managed to get a medical book in for me. I remember the medical book was thick yet only a 4 line paragraph mentioned Tuberous Sclerosis. Desire-Magloire Bourneville a French Neurologist in 1880 first talked about this disease. Today if you type in Tuberous Sclerosis into google pages and pages will come up. There are many support groups all around the world.
Life became many visits to doctors, many changes of drugs. Jennifer has the disease quite bad. She is intellectually disabled, autism, behavior problems. Her seizures were hard to control. From petit mal – absent seizures to drop seizures. Jennifer would be playing and then suddenly drop hitting her head so hard I would bundle her up and race to the doctors or hospital. Lots of X-rays done to see if any damage had occurred. Thankfully she was fitted with a helmet so as to protect her head each time she dropped.
While other mothers were going back to work or going out for coffee with friends I had social workers and therapy workers visiting. Where a lot of babies learn by play we had to teach Jennifer how to play to learn. Gross motor and fine motor were words I used on a daily basis. Gross motor – walking, running, riding a bike. Fine motor – holding a spoon, jigsaw puzzles etc.
Things have certainly changed over the years. They can now diagnose babies while in the womb. That research has shown if medication for seizures is given in the first few weeks of the babies life they can stop the infantile seizures from starting. These infantile seizures are what can determine how severe the intellectually disability is.
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.
7 years ago I was diagnosed with Lymphangiomiomatosis. It’s a rare lung condition and affects mostly women who are in the prime of their life. If you have Tuberous Sclerosis then its more than likely you will also have Lymphangiomiomatosis or Lam for short. There are two types of Lam – TS/Lam – often the Lam is mild. Then there is sporadic Lam. This is often quite severe to the point of needing a lung transplant or death. Many of my friends in the Lam community have passed away while waiting for the much needed lung transplant. The change in hormones of the child bearing years or pregnancy seem to make the Lam cells increase quite quickly.
I had my children in my 20’s and I did notice over the years that I would get chest infections and pneumonia around every 3-4 years. I would be given antibiotics and puffers for a short time. At one stage was diagnosed with bronchial asthma.
A couple of years ago Jennifer was also diagnosed with Lam – Lymphangiomatosis. She constantly gets chest infections and pneumonia. So far her Lam is mild like mine.
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 am 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 will stop the angiomyolipmas from growing and in fact shrink them. It can also help with my Lam disease and the facial angiofibromas. I was 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. The mTOR – Everolimus is helping with the facial lumps so there is no need to use the cream also.
I have not allowed these 2 rare diseases to stop my love of travel. I do take extra precautions when traveling. My hand luggage is full with medications so I always travel with checked in luggage.
Thanks so much for reading and learning a bit more about these two Rare Diseases. Will appreciate any shares on social media.