Nola's Journey-Diagnosis Tuberous Sclerosis

TUBEROUS SCLEROSIS, not to be confused with Tuberculosis, as I did when I was handed a discharge letter after Nola's first MRI scan on 19th December 2017. They may as well have handed me an atomic bomb, our world was about to crumble into pieces.

Nola and I had arrived on the children's ward at 8am that morning ready for her MRI scan which had been scheduled after she'd been admitted to hospital earlier in the month (I will be writing about how we got to this point in other posts) and an EEG showed abnormal activity in the brain.

The anaesthetist came to see us and talked through procedure, risks etc and presented the consent form that I needed to sign.

I was hoping my three month old would be first on the list for the MRI as she was being starved due to needing general anaesthetic. I was anxious when a toddler who I assume had been an inpatient was taken down first. I expected Nola to be screaming the ward down as she hadn't had any milk for hours. She surprised me though and was bloody amazing!

Fortunately Nola was next on the MRI list and we were walked down to the unit by one of the lovely play workers. There were a team of people waiting for her, they introduced themselves and then it was time to lay Nola on the bed ready to be anaesthetised. They had explained that I could be with Nola whilst they used the gas to put her to sleep, then I would need to leave. I remember holding back the tears asI stroked her face and then had to leave her. I was anxious about her being under GA. I had been told it would be about half an hour to get the images needed from the MRI so I headed back to the ward and made myself a coffee.

About twenty minutes later I went back down to the MRI suite and took a seat in their waiting area. The time went past half an hour and I wondered why they seemed to be taking longer with Nola. Now I presume it must have been because they struggled to get a cannula in for the GA or because they had found something and were ensuring they had all the images they needed.

My brave girl!

Eventually a nurse came to get me and took me through to the recovery area where Nola was a very unhappy bunny. Fortunately I had brought her milk down with me and was able to give her her bottle. 

One of the staff then said we would be going straight through to ultrasound to scan her kidneys as they had 'possibly' picked something up.

I had to sit on one of the wheeled transport chairs holding Nola while we were pushed through an incredibly busy ultrasound unit and straight into the room to be scanned. I wasn't told anything at this point and we were sent back to the ward where Nola needed to be observed for a couple of hours after the GA.

Cannula in the foot :(

I watched the family who had gone for the MRI first go home after the observation period so was more than hopeful that Nola and I would be escaping pretty soon. The couple of hours passed and I asked the nurse who was looking after us if we would be able to go soon. She wasn't really sure what was happening. Eventually the consultant who had admitted her a few weeks earlier and referred her for investigations came to see us. I can't recall the exact conversation but do vividly remember the words 'they did find something'. She possibly told me at this stage the MRI images had been sent over to Addenbrookes for the paediatric neurology team to look over.

The hours passed and I felt frustrated being stuck on the ward with no further information. There was a teenager in the next bed that had been stabbed and had been transferred over from another hospital That family were feeling frustrated too, they were still waiting for a doctor to come and see them. To be fair to the staff it was incredibly busy and I know they had to send patients to another hospital as the children's ward was full to capacity and they had no beds to admit anyone else.

Finally a registrar came to see me, she said they had found growths in Nola's brain. She also said they were benign and 'nothing to worry about' (I quote those words exactly!) I asked if she would need to have an operation to remove them but she said that wouldn't be happening and the team at Addenbrookes had seen the images. She said we were able to go home and said she would tell her nurse to remove Nola's cannula. 

We were still there for over an  hour waiting. The same Dr came back and gave me Nola's discharge letter which I opened and read. It obviously contained lots of medical jargon, much I didn't have a clue about. Then I read the phrase 'findings highly suspicious of tuberous sclerosis'. I read in disbelief as my brain turned it into something I understood, tuberculosis. How on earth could she have that? She'd had the BCG jab at a couple of weeks old and how on earth could the growths in her brain have anything to do with her longs. Then I stopped myself and read it again, this time it was clear it was something else, something I had never heard of. So I did what we all do and typed it into Google. I read the definition etc on the NHS website  but the enormity of this 'highly suspicious' diagnosis did not sink in just then. I was cross though, I was cross I had been handed a letter with a life changing highly likely diagnosis and no one had spoken talked me through it. I did message my old boss (a paediatric consultant) and sent her a picture of the letter, I asked her what it meant and what I should be asking. She replied asking me if anyone had spoken to me about it and that she'd really prefer to talk to me on the phone. It wasn't until Christmas Eve I actually got to have a proper conversation with her.

In the weeks/months that followed we had lots of various appointments with Nola. Finally in May this year her genetics doctor rang me and confirmed that her genetic blood test was positive for Tuberous Sclerosis. All the investigations running up to this phone call only pointed towards TS so I already knew but it was relief to have a certain diagnosis.

Do keep an eye out for more posts on Nola's Journey that will be coming soon!