It had been 8 years since I had to inject insulin into my thigh; oh the joys of gestational diabetes. This was something that I had never heard of before until it happened to me of course. At a time when I should be happily eating for two at every opportunity I was instead carb counting and monitoring my blood sugar levels.
Other pregnant mums at work got so jealous that I was having yet another scan and another opportunity to see my baby wriggle and kick away the sonographers probe. Yet my blood pressure rose along with my anxiety levels until my obstetrician told me that my baby was growing normally.
You see mums that develop gestational diabetes tend to bake rather large buns so we are scanned and monitored every 2 weeks to make sure that all is well. And all was well until my 34 week scan which showed that my baby hadn’t grown. I was ordered to finish work and start my maternity leave immediately but not to worry, they’ll scan me again next week.
This carried on week after week until boxing day when my little Jack frost was born a week and a bit early in the midst of a flurry of snow. He weighed 5lb 3oz, just enough to cuddle, but was whisked away from me almost immediately because he wasn’t breathing well and had a blueberry muffin rash.
I’d never heard of a blueberry muffin rash before, but with such a cute name it couldn’t be anything sinister could it? Well it meant that Jack was incubated and on the neonatal ward for the longest 2 weeks of my life but came home happy if a bit on the tidgy side.
He was a dream baby. He slept through. He drank his milk and seemed to adore being cuddled. We were all so happy and my 9 year old tom boy of a daughter absolutely doted on him to my absolute relief.
Then the crying started.
And I don’t mean the I’m hungry or I’m wet or I’m tired sweet baby cry that gets the milk flowing and an unrivalled urge to pick up said child. This was something else. This was something you would hear in a horror movie. This was an I’m in agony and need help now kinda blood curdling scream of agony. His tiny body would arch and contort in ways that I had never seen or heard of before.
As time went on, so did the length of time that he could scream for. We clocked him at nearly 16 hours once.
I’d never heard of that happening before and like what you are thinking whilst reading this, it can’t be physically possible? Well it bloody is! Jack would scream for around 25 minutes and then some ethereal being would press the stand-by button and he would just switch off.
Go fast asleep as if nothing had happened. But only for approximately 7 minutes. Just long enough for you to be lulled into thinking he’s done because no amount of rocking or shushing or swaddling or any other tricks would settle him. I know this because we had an entire children’s ward staff, including receptionist and cleaning lady have a go but to no avail.
Test after test came back with normal results when we were admitted for a 3 week stay on the children’s ward.
When Jack forgot how, and then refused to suckle his bottle, was when we were introduced to NG feeding.
I was absolutely convinced that tube feeding Jack the amino acid predigested Neocate that was prescribed for milk protein allergy would bulk him up and make him happy enough to develop a smile.
After all he was 11 weeks old now but who wants to smile when your too busy screaming?
But this tube would undoubtedly be my saviour even if it did mean going back to bolus feeding every 4 hours morning, noon and through the night.
All I wanted was for my baby to be happy.
Then came the vomiting. And we’re back at the horror movies again as I’m now reminded of Reagan’s pea soup scene from the exorcist when Jack decides to empty himself across the room after each and every feed. It was at a weigh in clinic that I broke down looking at all of the other happy chunky babies and comparing them to my Jack who was struggling so much to put on a speck of weight.
Back on the children’s ward and we were given a continuous food pump. This does exactly what it says on the tin. It feeds Jack small amounts of milk throughout the day but not enough to fill him and trigger his vomiting reflex. The first night we used the pump Jack was in my arms and went to sleep. I cried. I know it doesn’t sound like much but when your baby has screamed themselves to sleep for weeks it fills you with joy to know that they are content enough to just drop off. That didn’t last long though. Medication helped a little but his reflux is still there. Back to hospital we go.
Before Jack left neonatal, they gave him a routine head scan. It showed that there may have been a little bleeding but nothing to be of any concern.
However, as all other avenues had been explored, the paediatricians decided to repeat the scan. This raised more questions as there appeared to be some calcification and maybe an abscess but an MRI would be needed to confirm.
My husband and I were worried and started to turn to Dr Google for answers and explanations. They should make a horror film about Dr Google because he will tell you the worst stories you could ever hear. But then after 19 weeks Jack gave us the best present ever. He smiled!
About a month after the MRI scan it was explained to us that Jack has a smooth brain surface but there was to be a meeting with specialist consultants before a suspected diagnosis of lissencephaly would be given. Dr Google told us that the prognosis was less the 8 years.
We were devastated. What would we say to our friends and family. Oh God what would we say to his sister Sophie!
We were referred to a specialist consultant paediatric neurologist at Royal Manchester Children’s Hospital who told us that there are a few lumps and bumps on Jack’s brain so it’s not Lissencephaly. Thank the Lord, so if its not that, what is it then? Well despite his title, the many years of education and on the job work experience, he didn’t have the foggiest. How could he not know? He specialises in this stuff.
I’d never heard of it before until it happened to me that you can go years without a diagnosis.
Blood test, after micro array, after exome sequencing gave us nothing but more questions. The DDD study had finished recruiting patients some time ago and I was unsure if the 100,000 genome project would have room for us. But after some email badgering and 9 phials of blood samples later, we were on the project. However speaking with other families on SWAN UK, I wasn’t going to hold my breath for a meaningful result any time soon. Families recruited to the project at its launch in 2012, still had not heard anything.
So we would bumble on trying to treat each and every one of Jack’s symptoms with medication, therapies and surgeries. We remained in limbo for the next 4 years until a ‘Private Number’ displayed on my phone. I never used to answer private calls but the NHS seem to think withholding their identity is a good idea. I half expected to hear that I had once again smashed my car or bought PPI…again, but this was our Geneticist. She called to let us know that they found something that they think is the cause of Jack’s issues and could we come in to have a chat.
The appointment letter came and I couldn’t hold back the tears…of joy, of grief and of fear
Before our Geneticist would give anything away she wanted to confirm a couple of things so I once again relayed ‘Jack’s story’. I have told the story of my pregnancy with Jack, his birth and the first few months of his life countless times but it suddenly dawned on me that this may be the last time that I needed to recount it. Could we soon be in a position that I would only need to utter a few verbs in response to the question of ‘what’s up with Jack?’ and all would be clear?
In a way, yes. If that person already knew what Aicardi-Goutières Syndrome is. Yes, you read that right, we have a diagnosis! But its rare, and it doesn’t have a cure and we don’t really have a prognosis and Jack is severely affected and Sophie could be a carrier and it could happen again if you decided to have another child. I came away from the appointment rather numb and not knowing how to feel or what to do next. So I read anything I could get my hands on and found an American Facebook group along with a very new UK Facebook group and learned that there would be a UK family day in a couple of months time.
One of Jack’s best friends and someone he has known for a number of years from Physio group has Aicardi Syndrome. This does cause a little confusion as care staff that know both of them can’t seem to get their head around it. They are completely different diseases.
Jack attends a special primary school and loves every minute. He enjoys being around other children, watching them run and joining their play. Sophie is his best mate, idol and personal comedian. She never fails to make him smile, laugh and giggle.
He still has issues with his feeding and vomiting that we are working through, but I think we we are getting there, I think my baby is happy.