A new diagnosis
“Sorry Caroline, I’ve got to take this…” I said as I lunged for my phone in one of the meeting rooms at work.
It was Mark and I knew exactly why he was calling. My hands were shaking and I held my breath as I waited for him to speak.
“…It’s not Angelman’s…” he said as his voice broke with emotion. “…They think it’s something that could be linked to epilepsy instead. We’ll get called back in for another chat….They said to try not to worry….”
I’m not sure how I responded exactly, I only know I was crying. I hung up, turned to Caroline and apologised as I sobbed into her shoulder with relief. I was still worried about the ‘epilepsy’ part but in that moment, all I was focussed on was that it wasn’t Angelman Syndrome. Something we’d agonised over every day since a Consultant at Great Ormond Street mentioned it around 3 weeks beforehand.
But the relief was to be short-lived as in that next appointment, we would be given a new diagnosis. One that’s entirely responsible for everything that’s affected our little sunbeam from the moment she was born.
So much has happened since that day I almost don’t know where to begin…
One thing’s for certain is it won’t be back in 2014 with me harping on about every time she farted or hiccupped along the way. It’ll be me writing as things are actually happening instead of pushing myself back into the past to dredge up things that have been and gone. Trying to write and relive every moment that way has felt like death by a thousand paper-cuts, especially recently. So in my most maverick blog move yet, I’ve decided to bin that idea off and bring you right up to date. (FINALLY!)
Before we all move on, there are some things you’ll need to know for contextual purposes. Like how we go from a referral to Physiotherapy at 7 months to “help bring her a long a bit” to a referral to GOSH at 19 months for a “second opinion”.
We know Dotty had suspected seizures shortly after she was born. At the time, they were believed to be related to her severe acid reflux (GERD) and probably a reaction to the pain. Her seizures or ‘turns’ stopped completely when she was around 5 months old. However, she was a very quiet and still baby that was ‘delayed’ in terms of hitting the normal developmental milestones and therefore required regular check-ups & monitoring.
At 16 months she was termed ‘globally delayed’ by her Paediatrician but he had no answers as to why she was progressing so slowly. In the absence of any explanation we chose to stay positive. We embraced whatever was recommended by her Doctors to support her in learning the simple things she found so hard to master, like sitting on her own, holding her own weight & moving about in general. That included agreeing to ongoing tests and the introduction of various specialists, equipment and therapies such as:
- Occupational Therapy
- A standing frame & specialist chair for both home & nursery
- Repeat MRIs, EEGs, ECHOs & blood tests
- High protein diet trial
- Attending day care at a local unit for children with complex health needs & learning disabilities once a week
- Special Inclusion Worker (to support her private/mainstream nursery care)
- Education/Early Years support
- Community Paediatrician
- Speech & Language Therapy
- A specialist pram system (via Wheelchair Services)
- Referral to Great Ormond Street Specialists & Genetics Specialists
You name it, we’d done it but there still wasn’t really any indication of what might be going on. Tests came back clear and our minds raced as we googled all manner of things and asked questions like;
“Do you think she has Cerebral Palsy?”
“Is she Autistic?”
“Does she have low muscle tone?”
“Do you think she really DID have seizures and that’s effected her?”
We desperately hoped that we were worrying unnecessarily and she’d eventually catch up but I think we both knew on some level, there was something else going on. We just didn’t know what.
Clutching at straws we went through phases of focussing on all of her therapies and being strong to breaking down in fear at the potential unknown. That was until we went to Great Ormond Street in January of this year. They examined her at an initial consultation as I talked them through spreadsheets detailing her every move from the very beginning. They agreed she “definitely warranted further investigation” and booked us in for more tests.
These two days were some of the most emotionally exhausting we’ve ever had and we delivered on being the usual anxiety riddled parents that GOSH are masters of taking care of. I can’t tell you how impressed I was at their kindness and consideration, taking the time to explain every stage to us: What test would happen when, who would carry out each test, how Dotty would be prepped and what we would or wouldn’t need to do. They held us steady with information and direction, which was just as well as I felt so anxious I thought about scooping her up and legging it on more than one occasion. It was the first time she’s had an EMG and a Lumbar Puncture. For the latter she was put under general anaesthetic. I held her as they popped the mask over her face and watched her fall asleep. She became a dead weight cradled in my arms and I didn’t want to let her go but before I knew it she was laying on the bed opposite ready for them to draw fluid from her spine.
They obviously didn’t do this in front of us. Before they started, the Anaesthetist, a man with a gentle voice said;
“Now give her a kiss goodbye and we’ll call you once we’re done..” We were ushered out, the door swung shut and I buried my tears into Mark’s chest. That was the last test of the second day and we were barely standing up by the time we got her home. Quiet and apprehensive, we had a 3 month wait on our hands before we would hear back from GOSH for the results.
The follow up appointment came in the July and we breathed a sigh of relief as we were told that for the most part her results were normal. BUT (& there was always going to be a but)… they had picked up on some irregular activity around the back of her brain on the EEG. They hadn’t received the results of her blood tests yet but said given that all of her other tests were clear, the cause of Dotty’s delay and “differences” was likely to be genetic.
The Consultant asked, “has anyone ever spoken to you about Angelman Syndrome?”
“No… what’s that?”
He went on to explain that it was a genetic condition and that Dotty portrayed some of the symptoms and movements associated with it. He couldn’t be sure of course but the blood results would tell us either way when they were in. He tried to encourage us not to get fixated on whatever we would find on Google because with many conditions there is a spectrum and inevitably, Google would likely throw up the worst-case scenarios. But let’s face it, we knew there was no situation where we walked out and DIDN’T Google it immediately, especially now that we got the sense that we might find it upsetting. Like he said, it was inevitable.
We left. We Googled. We despaired and shouted at each other for a bit. And then we had an ice cream and spent the day together as a family. Looking at our wonderful girl, we decided we’d deal with whatever was thrown at us because she was perfect either way. Because realistically, there was no NOT dealing with it. It was our job to work it out and tackle it head on. That didn’t mean we weren’t bricking it on the inside, sick with stress but she didn’t need to see that. We waited almost another month for the “It’s not Angelman’s” call, which felt like a lifetime.
So relieved that she got the all clear, we didn’t really stop to think about the “potentially linked to epilepsy” part.
As silly as it sounds now, I suppose it felt more manageable in comparison but really we didn’t know – we carried on regardless and patiently waited for yet another appointment that would end up being in September.
“The blood results have pointed us to a diagnosis…”
We inhaled and braced ourselves…
“Dorothy has something called STXBP1. It’s a very rare genetic condition that has only been discovered in the last ten years or so….”
He talked some more as we nodded and asked questions. I made copious notes and tried to ask everything I could possibly think of but the reality was we had no idea what STXBP1 was and even if we did, nothing had sunk in yet. I have a tendency to become overly OK in such situations. I imagine it’s a form of shock or denial in which I know I have to be strong so I come at things from an information gathering perspective and try not to process much right away. That day in particular, processing would’ve only led to tears… a lot of tears and I didn’t want to waste the precious time we had with the professionals.
Here are the headlines of my scrawls and some other info we’ve found since on STXBP1:
- There are definite and relevant similarities with Angelman Syndrome
- Development delay
- Lack of or minimal speech
- Possible seizures
- Stiff or jerky movements
- Light pigmentation in hair, skin and eyes (Hypopigmentation)
- We didn’t pass STXBP1 on to Dotty. It was pure chance, one of those unfortunate, unimaginable things that she was born with. We had no control over it and couldn’t have prevented it in any way.
- It’s caused by a mutation of one of her genes (her STXBP1 gene) that codes for the syntax binding protein, which is responsible for firing off neurons (lost yet? Join the club!!!). In terms I can understand, there’s basically a glitch in the machine (her STXBP1 gene), literally one specific, fucker of a glitch that on it’s own can result in epilepsy, intellectual disability and other neurological problems.
- We’ve spent most days Googling, asking for more info and advice from friends, family and her Doctors but there are only around a few hundred cases documented worldwide so far and a lot of what you find is very dry and full of technical/medical jargon.
- From what we can make out, it was discovered in patients with epileptic condition Ohtahara Syndrome.
- It’s possible that Dotty did in fact have seizures when she was born and it’s also possible that she will develop them moving forwards.
- Most children with STXBP1 have severe issues with developmental delay; motor skills & communication. Depending on the severity, some children walk and talk, others don’t, with some communicating through an iPad.
- There is no treatment or cure, however most children benefit from additional and/or focused support and therapies (physio, OT, speech therapy, etc – all of which we were already doing).
You can imagine, the wormholes we’ve been stuck in ever since that session, trying not to overwhelm ourselves with the scary and in some cases, heart wrenching accounts of children with this condition. But the important thing to remember is that every child affected is unique and on the sliding scale from mild to severe, we believe Dotty is somewhere in the middle. It’s certainly not all doom and gloom but I suppose the point is, it’s still not “she’s all clear, stop being weirdos and get on with the rest of your lives”.
We will of course get on with the rest of our lives anyway, only it’s a far cry from the life we imagined for our little Pedro way back in the beginning. It’s now one filled with permanent support and therapy and words like special needs and disabilities.
With my positive hat on, I can say that I’m relieved in some way to finally have a diagnosis. To know that after all this time, we weren’t crazy and to at last have a new place to move forward from. I read something somewhere recently (likely on instagram!) that said “I didn’t choose this, but I’m choosing to accept it” and for obvious reasons that stood out.
As much as I want to kick and scream at some unknown entity “WHY?!! You bastards WHY?…” that might help release the pain momentarily but once the snot has stopped running, nothing will have changed. So we may as well get on with it and make the best of where we are because ultimately things could always be a lot worse. And besides, whatever happens, as hard as it may seem at times, I’m absolutely sure we’ll raise the best little girl there EVER was, sticking a massive middle finger up to STXBP1 as we go.