Second Annual “Blogging for TSC Awareness Month” Day 22
by guest blogger Vicky Garrett
(Ferryhill, County Durham, North East England)
So my journey started later in life for me. It all began in 2005; I was 18 years old and I had just given birth to my wonderful son Leo. During my pregnancy I had suffered with a large amount of kidney infections but I was just given antibiotics and told to go home and rest and that kidney infections were common with pregnancy. However, after I gave birth I found I was still getting very bad pains from my kidneys (the left even more) and so I was sent for an ultrasound scan where the sonographer announced she had found loads of unusual lumps on both of my kidneys and that she sent the results to my GP. She told me he’d be in touch.
A few weeks later my GP sent me for a more detailed Cat scan where they injected a dye into my blood system so they could take a closer look at these ‘lumps.’ The results were again sent to my GP.
My GP didn’t have any idea what they were, so he had the idea to send me to a urologist to see if they had any ideas.
The urologist explained I had around 30-40 lesions on both kidneys, one of them being 11cm x 9cm on my left kidney and he told me it would need operating on ASAP. He said, “If you accidentally knock your kidney and the lesion bleeds you’ll have an hour to get to hospital before you die.” Those were his words. I was totally shocked and didn’t know what to do. He offered me an operation called an embolisation in which they cut off the blood supply to the lesion to see if it will die. He said I’d have the op in the next few months, and in the mean time he sent me to a geneticist.
The first appointment with my geneticist will stay in my mind forever. I was still 18 and had a young baby. My fiancé and mother attended the appointment with me for support.
The geneticist was a lovely man named Dr. Brennan from James Cook Hopsital, Middlesbrough, England. He greeted me with a big smile and sat me down.
First he went through a list of all my family members to see if there was any possible link which we didn’t find. Then he went on and explained what he thought these ‘lumps’ were. Being 18, most of it went over my head but I took in what I needed to. He explained that these lumps were called angiomyolypomas which is a common find in the genetic mutation Tuberous Sclerosis Complex. He didn’t explain much about TSC and told me the best thing I could do was to research it myself at home as it is a very complex condition.
Dr Brennan then went on to explain the other symptoms of TSC and told me I’d be going for quite a few scans to check all my other major organs; he also checked my skin for the different TSC skin mutations and I had every single one!
Dr Brennan took blood from me and told me he was sending it off for an extensive search of the TSC gene. He advised these results could take up to two years to come back.
Finally, Dr Brennan advised that he would test my son as there is a 50/50 chance that I could pass down the TSC gene and he advised me at 18 years of age to have no more children as the risk was too great.
I left this appointment with a blank mind and an empty heart. Over the next few weeks I didn’t want to face what had been said to me and I tried to ignore it all, focusing on my little boy.
Sadly, due to a mistake from my urologist I didn’t get my embolisation until a year later. Unfortunately a scan later revealed that the embolisation had failed and I was facing a much bigger operation called a partial nephrectomy in which my new urologist took the large AML and half of my left kidney. It took me six months to recover from this op but the pain in my left kidney was no where near as bad as before.
Not long after my operation I received an appointment to see my geneticist…. The blood results were back after 3.5 years and they couldn’t find my mutated TSC gene. Dr. Brennan advised that I still had the diagnosis of Tuberous Sclerosis Complex and that the gene must be hidden where the technology couldn’t reach but hopefully advances in technology in years to come may eventually find the mutation.
I have since been approached by Cardiff University in Wales because they do a lot of research for TSC and they have found new technology to search further into the DNA. They are taking a closer look at my blood to try and find the mutation gene. My blood has been with them around a year and I have not had any news yet.
Since then I have had a little girl and both children have been tested. Thankfully they are both clear, but myself and my fiancé have decided to have no more children.
I am also currently awaiting another operation as I have a large AML on my right kidney. My urologist is trying to decide whether to try an embolisation or whether to go straight for another partial nephrectomy.
I have a lot of friends on Facebook who have either their own TSC journey or have children with TSC and they are like a family to me. If I ever need support they are there and they know exactly what I am going through and feeling. I have a wonderful fiancé and two gorgeous children. Sadly a lot of my family do not understand what I am going through and some don’t want to admit that I have a condition which will affect the rest of my life.
It has been a very tough nine years and I am still trying to understand TSC. I think I will always be trying through the rest of my life.
One thought on “Diagnosed with TSC at age 18.”
Vicki , i hope you have received info from tsalliance. Org . The Tuberous sclerosis alliance is committed to providing you information on the genetics and the kidney symptoms and all other info. You can download info from the site , email or call the 800 no for info and advice. They have a medical advisory board and have the latest research and information to help you or your dr.