Gillian Gilli Cassidy, 37, from Bangor, County Down, just knew something was wrong with her baby...
Doctors assured me babies get all sorts of infections
Looking at my poorly baby, two thoughts flitted through my mind.
First... Something is wrong.
Then... Is this what they call mother’s instinct?
Lucia was our first child for my hubby Anders and I.
Despite suffering with extreme morning sickness when
I carried her, the pregnancy had gone to plan.
And, when she was born in May 2009, weighing 6lb 6oz, doctors had given her a clean bill of health.
That lasted just two days, when she got her first viral infection. She had a rash and a temperature.
‘It’s normal,’ the nurses said, treating Lucia with antibiotics. But that was just the start. Next, Lucia wouldn’t latch on to feed and I had to express breastmilk onto a spoon.
‘Lots of babies struggle,’ I was reassured by the medics. But, even after we took her home after five days, Lucia didn’t get better. The viral infections were relentless. After wasted trips to the GP where I was told not to panic, I stopped taking her.
‘Children get all sorts,’
I said to Anders.
I’d never been a mum… How would I know? But deep down, my instincts were screaming…
Something isn’t quite right.
Like how, sometimes, Lucia would go days or even weeks without filling her nappy.
Not walking or talking, still like a little baby.
‘Is it my fault?’ I fretted to Anders. Was I doing something wrong?
Doctors insisted she was fine, just a bit slow.
They assured me that all babies got some infections.
Then, one day in 2011, Anders went out to play footie.
‘So it’s just me and you,
sweetheart,’ I cooed to Lucia.
I fed her cocktail sausages, ripped them into tiny pieces. She still struggled with solids.
Except after one bite, she started turning blue.
Panicking, I opened her mouth, tried to get the food out, but it was stuck.
Grabbing Lucia, I ran outside, hoping to get help from a neighbour.
Turning her upside down, I started slapping her hard on the back.
And then, suddenly, the sausage flew out.
I crumpled onto the grass sobbing tears of anger and frustration.
Choking could happen to any child. Yet everything seemed to happen to my poor Lucia.
It all had to be connected. And I had to get her help.
Speaking to Lucia’s health visitor, I insisted on being referred to hospital.
First, we were seen by a speech and language therapist.
They quickly discovered Lucia had a problem with her oesophagus.
She was put on a soft-food diet till she learned how to eat.
Feeding her liquidised food at least meant she was unlikely to choke again.
And, over the next year, Anders and I took Lucia from one doctor to another.
So many specialists, but not a lot of answers.
Still, at least finally someone was listening to our worries.
Then, in 2012, when Lucia was 3, she was given a blood test looking for a variety of diseases and syndromes.
On the form, I recognised some names of conditions. But one stood out – 22q11. What on earth is that? I wondered.
Back home, I researched it online.
Within seconds, I knew that whatever this condition was, my girl had it…
Children online with 22q11 looked identical to Lucia.
Our little girl had narrow eyes and a long nose with a wide bridge. She had no folds under her eyes. And she had a short stature and tiny feet. Right then, I was convinced. Lucia had 22q11.
Sure enough, the blood tests confirmed it.
Known sometimes as Digeorge syndrome, the condition is caused by a genetic problem called 22q11 deletion.
‘Unfortunately there’s nothing we can do to help,’ a doctor said.
I found out some 22q11 babies die within days of birth, with no immune system.
We were the lucky ones.
It turned out Lucia had heart defects, problems with her immune system and developmental delay.
She needed round-the-clock care, and her future was uncertain. Her body and brain could only be monitored, especially around puberty.
So I quit my job. I was heartbroken, but I knew Lucia needed my all.
By then, I had Minnie, now 6, and Otis, 5.
Thankfully, tests showed they weren’t affected.
But things got worse for Lucia.
She had speech and language delay and, aged 6, she was diagnosed with autism.
Apparently, it’s common in those with 22q11.
Lucia was 5 when she finally learned to speak.
Frustrated, she suffered social anxiety and tantrums.
Instead of bonding with humans, she preferred animals. She adored them, every horse or dog we passed was patted.
‘I’m not Lucia, I’m a dog!’ she’d say with a woof.
She’d refuse to go out unless she was dressed as a dog. With her face painted like one, she’d crawl on all fours.
She even licked people she knew well, bless her.
But seeing her on some days when she was down was a different matter. It broke my heart. I felt so hopeless.
In the future, Lucia could develop schizophrenia or psychosis.
I needed to do more. So, in April 2016, I helped open the first 22q11 clinic in Northern Ireland. With over 150 on the books, it was clear people needed my help.
Incredibly, although people think it’s rare, it affects one in every 900 births.
I started working at the clinic as a patient advocate co-ordinator, along with a geneticist and psychiatrist.
Right now, we’re monitoring Lucia’s movements. Her right shoulder juts out due to spine curvature and she may need a back brace when she reaches her teens.
Lucia suffers with constant abdominal pain and still has viral infections every three weeks.
But she amazes me. ‘Aren’t I so lucky to have 22q11?’ she said out of the blue, age 8. ‘I’m the only one in the family to have it, and you can talk about me at work.’
Because of my work at the clinic, Lucia’s made lifelong friends with other girls like her. She has 22q11 sleepovers. We even have clinic trips out with 22q11-ers worldwide!
It’s amazing to see my girl chat away to people like her.
But the one thing that will really bring joy to Lucia’s life is a dog. We’ve been told we are getting an assistance dog from a charity called Assistance Dogs Northern Ireland.
The dog will be trained to help her cross the road, as she has no awareness of danger.
And it’ll help calm her when she has a meltdown, too.
‘When I’m older, I’m going to be a vet with eight pugs!’ she grins.
Lucia attends a special school now. But, in order to get her to wear her grey school tights, we had to convince her dogs wear tights, too.
And, yes, I found pictures of dogs in tights – thank goodness for the Internet!
Going forward, Anders and I aren’t sure what the future will bring for Lucia.
But I know if our puppymad princess can face it smiling, then we can, too.
Some children with the condition die within days of birth
We’ll face the future with a smile
My brave, beautiful daughter