Rebecca, Josh’s Mum, (October 2015)

At the 22 week ultrasound of my pregnancy with Joshua (Josh) I was by myself. All other scans I had had my partner Jesse or other family with me and everything had been normal, except that Joshua had been on his tummy for all of them. It was in this scan, while I was all alone, that I was told there was a problem with Joshua’s heart. Doctors were brought in but they couldn’t confirm what the heart condition was so I was referred to have echocardiography four days later.

Those four days were very long, Jesse and I were very anxious to find out more. At the echo we were told that Joshua has a tumour called cardiac rhabdomyoma, common in children with tuberous sclerosis complex. I had to attend ultrasounds every 2 weeks, and echo appointments on the off-weeks. Jesse and I were referred to Hunter Genetics. Our bodies were tested with a blue light to check for white patches on our skin, which may have indicated we had TSC. Thankfully, neither of us showed these. At this time I was 25 weeks pregnant, and the staff discussed the option if we wanted to terminate the pregnancy. Jesse and I bawled our eyes out and said we would love our child no matter what the outcomes and we would give him the best life possible.

Jesse and I were so upset following this appointment. Jesse went online and researched as much as possible on TSC. This made us more upset as it didn’t answer any of our questions, we couldn’t know how TSC would impact our child because it is very different for each person. We didn’t know what to expect.

When Joshua Dean Penman was born, he was perfect. He had a white patch on his head, lesions on his back and the heart tumour and an eye test when he was two weeks old showed a tumour in his left eye. At only three weeks old he had his first MRI. It was difficult to settle him into the machine and traumatic for all of us. From the MRI, we found out Joshua also had TSC lesions in his brain. Genetic testing of his blood was the final confirmation that Joshua had TSC.

We felt worried, scared and didn’t know what would happen. There was a period of self-blame and guilt thinking we had caused this to happen to Joshua. There were nights when I sat up and worried it was definitely me that caused it. Although we had our skin tested, we hadn’t had our blood tested. Jesse and I got our blood tested, and it turns out no one in the family has TSC. We were told if we have any more children it would be highly unlikely that they would have TSC.

We reacted to Joshua’s TSC diagnosis by living in the moment. We didn’t want to think ahead. Our lives were filled with many doctor appointments and invasive tests. It was confronting and sad to find out that the tumour in Joshua’s eye was growing rapidly. The medical support Joshua received was very good, but often we were told about all the future possible health challenges that Joshua could face. It was too much to consider when we were busy concentrating and getting through the present.

At 11 months of age, Josh was diagnosed with epilepsy. While out grocery shopping his temperature went right up and he had his first absent seizure before even made it to the doctor’s surgery – he wouldn’t respond to me and his face was very droopy. He is on anti-epilepsy medicine but still has seizures, particularly when he is unwell. He has multiple check-ups every few months with specialists and regular MRI’s. These MRI’s involve Joshua being sedated, which always makes me worry. His most recent MRI showed a large SEGA brain tumour, and he will have his next MRI in 8 weeks’ time to make sure it is not growing too quickly as it can affect the fluid in Joshua’s brain.

At the end of last year, Joshua appeared normal in the morning but became quiet after dinner time. Within an hour he became very warm. A little while later, Joshua started to have a fit. I called the ambulance and put him on his side. Joshua started frothing at his mouth and the ambulance arrived. The paramedics administered midazolam but that didn’t work and Joshua began to turn purple. The paramedics lifted him on the gurney and put him straight into the ambulance and performed CPR until a back-up ambulance arrived as they required additional paramedics on the way to the hospital. I jumped in the front of the ambulance as there were so many paramedics I couldn’t fit in the back. As we drove to John Hunter, Joshua was still seizing. Seeing Joshua being worked on by a team of ten doctors, having a tube put down his throat and still not responding was too much. Jesse and I were crying and thought this was it, that we would lose Joshua. Joshua was put into a coma for four days. In the doctor’s records the seizure that took Joshua to hospital lasted four hours. About a week passed until Joshua was taken from intensive care to the ward. I stayed with Joshua the whole time, didn’t get any sleep for 37 hours straight. I was so worried that if I shut my eyes, he would have a seizure again.

Currently, we put cream onto Joshua’s face to stop his facial tumours from spreading. Recently a new, higher dosage was prescribed. We want to get on top of it straight away as these tumours can be quite disfiguring. I don’t want it to impact on his self-esteem. He already has enough to deal with- white patches on his skin, on his hair, going to specialists to check the growth of his tumours and more. The cream we have been using so far is $169 for a 30 milligram jar which lasts us just over a month. At a recent check-up, the skin doctor found that the dosage wasn’t strong enough, so we are now trying a stronger dose which is $150 for only 15 milligrams. We know there may be large medical expenses in the future. As a family we will spend whatever money we can to help Joshua, but it does impact a lot on our family budget.

We worry about Joshua’s future, as we don’t know what it will hold. He’s only two years of age and he already has tumours in his eyes, skin, brain, heart, and epilepsy. We also recently found out he has learning difficulties: Joshua is struggling to communicate now after a number of seizures but he is starting speech therapy and he is a whiz at using the iPad. When we think about Joshua’s future, Jesse hides his feelings and doesn’t like to show he’s upset but it worries me. I cry because I feel Joshua’s been through so much already. I wish I could be the one to go through it all. I’ve written down Joshua’s story because we need a cure for TSC. Funding is needed for research to that will make sure children with TSC won’t be so affected by this disease. Money can also go to providing access to current information and resources, and helping families build support networks.

I attended a Tuberous Sclerosis Australia picnic in my local area last month was eye-opening. We’d never ever met anyone with this condition; it was such a sense of relief to meet someone who is dealing with the same thing we are. We met children older than Joshua with TSC and heard their stories. It was a relief to meet others and feel supported, but also scary to see the many various symptoms and effects of TSC and not know how the disease will impact on Joshua in the future. You just don’t know what each day brings with this condition. Despite everything this condition holds, Josh is the happiest, most lovable baby and I’m truly blessed.

Joshua and his family are kindly asking friends and family, or anyone reading this story, to make a gift in Joshua’s honour to fund TSC research.