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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

Identical Twins Diagnosed With TSC

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Day 27 of Blogging for TSC Awareness

by guest blogger Jobina Antochow-Piekema  (Clairmont, Alberta, Canada)

2012-11-09_16-31-07_926At our very first ultrasound we were given the great news we were expecting mono/di (identical) twins.

During a routine ultrasound at 25 weeks, we were told the twins both had cardiac rhabdomyomas and a possible diagnosis of tuberous sclerosis. At 28 weeks pregnant after fetal echos, ultrasounds and meeting with a geneticist she recommended we transfer to the USA and have an abortion as we were given the absolute worst case scenario of TSC. I immediately said no…these boys were moving, growing, and thriving inside and we knew we would take our twins however God chose to give them to us.

I was put on bed rest due to high blood pressure and stress. At 31IMG_8916297196671 weeks I was flown to Edmonton, Alberta Canada from our home in Grande Prairie, Alberta and at 32 weeks on September 23, 2012 I delivered our identical twin boys via emergency c-section. Layton Dale was born at 10:58 pm and at 10:59 PM Landon Walter arrived. After seeing them briefly they were whisked away to the NICU for evaluation. They were doing well and holding their own. Layton spent 35 days in the NICU AND Landon 41 days.

Life at home was an adjustment, but we managed until we had a follow-up cardiology appointment around 6 months of age and were told their hearts were still strong and the cardiac rhabdomyomas were not affecting their heart function. We began to breathe a little easier. The cardiologist believed the twins were in the 30th percentile that did not actually have TSC.

So life went on! We lived, we thrived! We lost my dad to cancer in March of 2014, twelve days after I married my husband. Then two months later we lost my husband’s grandma. It was an emotional rollercoaster. As things finally started to somewhat normalize, we had a follow-up with the twins’ neurologist who wanted to book them an MRI but believed they were in the clear. We left Edmonton happier than we had been in months only to have our world crash down around us ten days later.

We were camping and Landon woke up from his nap having what we assumed were seizures.  We knew right away…we hadn’t escaped TSC. We called 911 and we were life flighted to Edmonton. Watching my son cluster seize for 45 minutes at a time changes a person. After ten days in the hospital, CT scan, kidney ultrasound, opthomolgist, and MRI we were told by doctors tuberous sclerosis.  We knew…it wasn’t a surprise, but at the same time it was a shock. We asked so many questions, we cried so many tears,  we were worried about Layton. Genetics met with us to do blood work to see the test to identify the gene mutation in the twins…spontaneous TSC1 is their official diagnosis.

FB_IMG_1423273687587We were discharged not having the seizures under control, but once we had control we went almost five months seizure free. Then the seizures started coming back, but they were different. At first I doubted what I was seeing, until I looked into my precious little boys’ eyes and knew. We added another med and have seen great success.  We are almost six months seizure free.

Landon is progressing well all things considered. He has heart and brain involvement and some ash leaf spots. Layton has been cleared of any cardiac rhabdomyomas and has some ash leaf spots.

We have lots of appointments we have to travel for. We have no idea what tomorrow will bring. I am slowly starting to let the twins out of my safety bubble. And I am slowly starting to become somewhat human again. Having to grieve the loss of my dad, my husband’s grandma and my healthy children has taken a huge toll on me…all I want is to be the best I can be for my boys. We always pray for a mild case of TSC but know it is all in God’s hands.

Honestly,  some days it all feels like a bad dream. I wish I had the cure. I have met some amazing moms through the TS Mommies group on Facebook, and although we are miles apart, these woman have become my friends, my family and my go-to people! I treasure you all.

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#iamtsc #tscawareness #tscwarriors #piekematwinstscjourney #punchtscintheface
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Guest Bloggers For TSC Awareness Month, Tuberous Sclerosis

He is our superhero.

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Day 8 of Guest Blogging for TSC Awareness

by guest blogger Melissa Courtright  (Caldwell, Idaho)

IMG_20141108_131428We have two children.  An older daughter Robin who is 11 (non TS), and Remy, who just turned three. He started having strange episodes at 4 months old that were later identified as seizures. He was officially diagnosed at 10 months old after having up to 14 seizures a day, and they did an MRI and found multiple tubers — over seven so far. They then did an echo and found he had three heart tumors, and has multiple ash leaf spots on his skin. He started having a speech regression at age 2 and we are working with speech therapy to help him. He also has some behavioral outbursts of frustration, maybe because his verbal communication is difficult, or his TS in general, or because, well, he’s just 3 LOL.

Remy is a loving sweet boy. He is empathetic to others’ feelings; he will cry at sad moments in movies, and cry along when others are sad. Yet he will still smack someone if they make him mad, but he will feel bad and give hugs. He is super smart, can do most complicated tasks and things at and above his age level. He plays most things safe, but is quite a fearless daredevil when it comes to physical activity. He is a ball of energetic energy, although his seizure meds make him easily tired, need breaks during the day and a take a long nap. He is a strong little man and will conquer his condition; he is our superhero.

super remy

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