This is the journey that I have made with my youngest daughter Lillyana.
It is a story I have told a few times publicly, but I’ve never been quite happy with the information I relayed.
Our story is not over, it’s a journey we continue to take, and this entry is another excerpt of our lives so far.
So, what is our story?
Lillyana was born at 37 weeks by elective caesarean with us knowing she potentially had a genetic condition. It took six years and four months after her birth to finally find out what that condition is.
Our pregnancy was atypical. She was an oops baby.
I hear many parents in our situation talk of the worry and guilt they feel with an undiagnosed child. Was it the glass of alcohol, the wrong cheese, the bender before realising one was pregnant? For me, I feared the stress of those first few weeks were what caused Lilly’s problems. Although I don’t like to focus on the relationship issues with her father, they are still a part of the parental guilt that so many feel when in our circumstances. I bore that guilt alone and told no one.
If anyone is in the same situation, receiving an undiagnosed genetic condition diagnosis, I would like them to know that any guilt, for whatever reason whatever the circumstances, is so perfectly understandable. Whatever form that guilt takes. It is hard to release oneself from it. There are probably no words that could stop it. But there are others that feel the same. That knowledge can be shared.
From the moment her father and I decided to keep our serendipity baby, problems arose. I started bleeding.
Her first scan revealed a high nuchal reading and a one in 100 chance of a genetic condition. I attended appointments alone. I had numerous anomaly scans, growth scans, heart scans, midwife appointments and more.
At 36 weeks we had reduced blood flow and polyhydramnios. I was booked for an elective C-section the following week.
Although no issues were found at her birth, bar the pneumothorax, the doctors informed us that she was healthy and were sent home.
From then on, like many other parents, the list of expressions started. We all have different lists, some match each other’s, some vary in severity. But through them all, is the knowledge that something just isn’t right. She wasn’t normal.
Luckily, I had a wonderful medical team behind me, to support her issues, to send referrals to various professionals and diagnose various expressions. I was lucky to receive an early Autism Spectrum Disorder diagnosis for Lilly in order to help gain needed assistance when starting school when we lacked a formal diagnosis.
She failed to gain weight, a silent baby before developing GORD and sandifer seizures. She had kidney infections, a heart murmur, suspected epilepsy, developmental delay, delayed speech and sensory issues. Dysmorphic features and short stature are just a few of her expressions.
I didn’t join the SWAN UK support network for quite a while, despite knowing of their existence and being told that Lilly had an underlying genetic condition by her consultant. I had convinced myself that it was my fault and that I was a fraud if I joined.
But they have been an amazing support. I have attended a few conferences to tell my story and help build on professionals’ knowledge of families with children with undiagnosed conditions. I have heard family’s stories so very similar to mine, that if I can help just one person to find their community and support through SWAN UK, I will feel some satisfaction.
Today, I have a diagnosis for Lilly. She has SETD5 syndrome, with only about two to 300 cases worldwide.
She is rare. She is diagnosed. And there is not a day that goes by that I am not profoundly grateful to be in such a position.
So many families are still waiting. Some are diagnosed like Lilly, with a condition so rare not much is known.
I hope to help continue to raise awareness and support for the one in 17 people affected by a rare condition. Awareness about the vital need for diagnosis on a family’s emotional welfare. Knowledge of a diagnosis will help with a family’s prognosis for their child’s future and help to access support and various medical professionals.
But mostly, to give families like myself a community when it feels like you are alone.