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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Scars Do Not Define Us

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Day 28 of Blogging for TSC Awareness
by guest blogger Katie Eliot  (Durham, England)

Hi!  I’m Katie, I’m 35 and I have TSC.  My TSC story should have begun when I was a baby, but a series of events put off my diagnosis until much later in life.

Doctors realised that there was something very wrong with my heart while my mum was in labour.  Mum told me that the delivery room was like and episode from M.A.S.H and soon after I was born I was whisked away for test after test.  It was assumed that I had aorta stenosis and I was scheduled for open heart surgery at three weeks old.  The surgeon opened me up, saw I actually had a rhabdomyoma (a heart tumour associated with TSC) and they realised that, without a heart transplant, it was unlikely that I would survive.

But survive I did!  However I wasn’t diagnosed with TSC as my paediatrician told my mum that “I was too intelligent to have tuberous sclerosis.  Unfortunately, back then mum had no idea how ridiculous that statement was!

So I went through childhood like most other kids.  At age 7, I moved to South Africa and rarely thought of my operation as a baby.  If I ever did, mum would say, “it could be worse, you could have tuberous sclerosis!”  South Africa was a wonderful place to grow up, but in 1992, our family moved back to the UK.  I did my GCSEs and passed with flying colours. However my life changed completely during my A Levels when, aged 18, I became very poorly at school.  I had many tests including a brain scan which showed the tell-tale tubers of tuberous sclerosis.  My world fell apart as for 18 years I had thought myself TSC free.

I think I was in denial for a while, but I finally got in touch with the Tuberous Sclerosis Association in my early twenties.  However, my tango with tuberous sclerosis was far from over!

Eight years ago, after many, many years of pain, surgeons realised I had a tumour in the joint between my right collarbone and sternum.

In August ’08, I underwent a 11 hour surgery to remove a section of my collarbone and graft a section of my fibula into my chest.  It was at this point that I realised I couldn’t ignore TSC any more and I went on my first TSA Outlook Weekend.  It was amazing and I instantly made life long friends.  Little did I realise at that time that one of those friends, Andy, would become the love of my life.

I went on to have five surgeries until it became clear that the grafts were never going to work properly.  It was decided that I needed to have my collarbone completely removed.  So, two weeks ago, on 14 May 2015, I went down to theatre to have it taken out.  I can honestly say that I was utterly petrified!  A few hours later, I was in recovery and I was in far less pain that I had imagined.  After a few days, I was allowed to leave hospital and go home to continue to recover.

I’m getting stronger every day and I am amazed by how little pain I’ve had.  I still have a long way to go, but I’m getting there!

But, I’m not done there!  From something so painful, was born something positive.  Some time ago, someone told me to cover my scars, in case “I offend someone!”  Well, I thought, “Stuff that!” and I decided to make it my personal  mission to help to stamp out negative body image.  Hence, Sport Your Scars was born!  I set up a Facebook page and I posted a photo of my scars.  The response was amazing!  It’s only in its infancy, but I truly believe that scars do not define us and that EVERY woman is beautiful, irrespective of her shape, size or skin tone.

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If you’d like to follow my story, you can find me on Facebook or follow my video log on YouTube here: https://www.youtube.com/channel/UCLgMCfg-HVY1xms6iBVvR8Q

Also, you can lend your support to the #SportYourScars campaign by backing our Thunderclap here: https://www.thunderclap.it/projects/26780-sport-your-scars?locale=en

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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

One Hour At A Time

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Day 6 of Blogging for TSC Awareness Month

by Anonymous  (London, England)

I had a pretty normal pregnancy; all of our scans and tests showed that our beautiful boy was growing normally and we had nothing to worry about.

Our 36-week scan would be our last chance to see our boy before he made his big entrance into the world, so we were very excited. Little did we know that November 13, 2014 would be the day that our world would come crashing down.

“I see a tumour in the baby’s heart. I am going to ask a doctor to come in to double check,” said the sonographer. Within 10 minutes I had four doctors in the room, confirmation of several tumours and a probable diagnosis of tuberous sclerosis. I had the legal right to terminate, mental retardation, epilepsy all thrown at me by the doctors and I couldn’t utter a word. But inside I was screaming. This wasn’t happening to me; any minute now someone will say a mistake has been made, but unfortunately that minute never came.

The following week a fetal MRI showed brain tumours and a tuberous sclerosis diagnosis was confirmed.

I spent the next four weeks reading everything I found on the internet about TSC and I cried like I had never cried before. My heart ached for my baby, and it ached for my husband for losing the normal healthy son he was so looking forward to having. I resented every healthy baby and all the mothers that would never experience this overwhelming pain. Most of all I hated myself for being healthy but carrying a baby that had a disease that had no cure.

Eli was born on December 15. We had accepted his diagnosis and had great hope that we might be one of the lucky ones and his case would be a mild one. Once again God had other plans for us. Eli started having seizures from birth. Doctors gave us worst case scenarios and told us that the likelihood of Eli being a severe case was high as he presented with seizures so early on. That night I begged God that whatever Eli ends up with, please don’t take him away from me. To this day I refuse to ask the question about his life expectancy.

Eli is now 4 and half months old, we are at the beginning of our journey and the road ahead of us is long , there are many uncertainties that lie ahead.My heart breaks a little more with every test Eli has. People tell me that I’m strong but I don’t see what other choice I have. My son needs me to be strong for him. He needs me to fight this disease and not give up.

With every milestone that Eli meets my heart soars with happiness, but at the same time a crippling fear overtakes me; one big seizure and he could lose it all.

One night when I felt nothing but despair, a mother of a TSC child told me to take it an hour at a time and not think too far ahead. At times I catch myself looking at young boys out and about and wonder if my Eli will be like them? Will he ever talk, walk or have friends, but then I have to stop myself and come back to the here and now.

My boy smiles at me when he wakes up in the mornings and for that I am eternally grateful.

 

Current Events, Guest Bloggers For TSC Awareness Month, Parenting, Tuberous Sclerosis

It Could Be Something, But It Could Also Be Nothing…

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Day 13 of Guest Blogging for TSC Awareness Month

By guest blogger Alison Walsh  (Buckinghamshire, England)

a few hours oldI was about 16 weeks pregnant and had just been to see my cardiologist about my heart murmur, when he mentioned having the baby’s heart scanned just in case he had a valve defect like mine. I replied that it would be really cool to see a baby’s heart scan as I had never seen one before, and I was never offered a scan with any of my other children. As I wanted to see a baby’s echocardiogram, I mentioned the heart scan to my baby consultant and she said that it sounded like a good idea for just in case, so she sent off for an appointment for me.

I received a phone call from Oxford University Hospital a week later to confirm an appointment. I got a bit nervous for a few days because I thought the heart scan would be at my local hospital. My partner gave me a lot of reassurance that my other children were fine so this baby should be too. At 18 weeks pregnant we were driving to Oxford at 7 am. I was nervous but excited all the way there.

The prenatal heart doctor took her time to scan me, being quite quiet throughout the scan. She just explained and showed us the heart chambers on the screen. After the scan she told us that she may have seen something that she wanted to keep an eye on, but for us to try not to worry as it could be something, but it could also be nothing. She asked us to return in four weeks just so she could be sure.

At the next scan in Oxford, the prenatal doctor brought in a colleague to help her have a look. It was then that she told us that our unborn son had rhabdomyomas (heart tumours) Theo's new hatand she was worried about three of the tumours as they were quite large. Also, one of the tumours was positioned next to his heart valve. The doctor also told us that my baby had a very high chance of having TSC, and the worst case scenario was that he would die before being born.

I went home and cried for a few days, when I suddenly thought that my other children could have TS, and if they did, they were all fine. So my baby would be, too. This thought reassured me until we returned back to the hospital two weeks later and the two doctors were waiting in the scan room for us. They scanned the baby’s heart, then told us that one of the tumours they were worried about was moving in and out of the valve with the blood flow. If the tumour got any fatter, it would get stuck in the valve and stop the flow of blood, resulting in the baby’s death. She made us another appointment and said, “Hopefully, if everything is okay with the baby, I will see you in two weeks.” She gave us a sad smile goodbye.

Well, my heart just broke. I started grieving for my baby as I waited for him to die inside me. I couldn’t sleep or eat for a week. All I did was cry, and when I stopped crying, and he stopped kicking, I cried even more thinking that was the last kick that I would feel him give me. It was the worst two weeks of my life.

Baby Theo was oblivious to my suffering, and he was growing well. Two weeks later, we went back to the hospital where the doctor said she was so glad to see us back, and she had been worrying about us. The tumour was growing longer instead of fatter, and they were still worried about it interfering with Theo’s blood flow as the tumour was causing a lot of pressure in his heart.

I was told that Oxford University Hospital head cardiologists and Southampton head cardiologists had been having a meeting about Baby Theo, and if he survived until I was 30 weeks pregnant, they would give me a c-section and operate straight away.

DSC_0042A few hospital appointments later the cardiologists had another meeting. They decided that as the pressure in his heart was high but stable, and as he was really too small to operate on, they would only do it as a last resort for him. We were told that if he survived until I was 34 weeks pregnant they would take him out then. But I had to have fetal echo appointments every week from 30 weeks pregnant. I was also told to prepare and starve myself before each appointment as I might need an emergency c-section if the pressure in his heart got any worse or if the tumour grew fatter.

The pressure in Theo’s heart grew slowly and steadily but didn’t seem to affect his growth in any way. Theo shocked the doctors again by surviving and thriving. We were told his heart would not take the pressure of birth, so he would be delivered by c-section at 37 weeks all being well. He would have to be in a special care baby unit for three weeks at least as his heart wouldn’t work properly after birth due to all the tumours, but they also explained that the tumours would regress after birth.

After Theo’s delivery he only had to stay in SCBU for three days because his heart was working normally and he was feeding well.

Theo was talked about by so many heart specialists that they all came to visit him in SCBU just to see for themselves how well he was doing. They couldn’t believe it, and one of the doctors even wrote a presentation on him, as they said his heart should not have really coped with all the tumours and their postitioning.

Theo was allowed home on the condition that if he looked strange or blue that we would phone an ambulance straight away, and that he was to go back for appointments every week.

Theo continued to thrive at home. We received confirmation that Theo did have TSC2 when he was three weeks old as they had taken blood from his cord at delivery.

I was ecstatic that Theo was still with me. He was a fighter and had survived against all the odds.DSC_0079

Theo did worry us for a while as he didn’t smile until he was ten weeks old and didn’t give a full on belly laugh until he was eight months old. I am very pleased to say that Theo is growing well, and though he gets a bit behind on his development, he then seems to catch up really quickly.

Theo has ash leaf spots on his legs and belly and sometimes stares off into space, which could be absence seizures. I try to catch them on camera to show the doctors, which is just hilarious as they only last 30 seconds, and by the time I get my camera, he has snapped out of it. He has had an MRI and we know he has multiple tumours in his brain and still some in his heart, but he is the happiest baby around. He’s always smiling. He is 10 months old now and he loves to cruise around the furniture, dribbling on everything as he goes. I think he would walk all day if I let him.

He loves his sleep and has slept through the night since he was a month old. He loves Mickey Mouse and he waves his arms and legs every time he sees Mickey on the television.

We live in hope that TS has affected Theo enough now and won’t affect him anymore.

Love you lots my gorgeous little boy! x x