Hi, my name is Amanda and this is my story of our journey with Wolf-Hirschhorn Syndrome!
From the moment my partner, Michael and I decided that we wanted to try for another baby we were so excited. We had just started to build our dream home together with our kids and couldn’t wait to expand our family.
It didn’t take long for us to fall pregnant and we were over the moon. But, little did we know that this was to be the beginning of some of the most heartbreaking moments in my life.
At 5 weeks I started bleeding and was told we had lost our baby. But then a blood test had advised otherwise. For the next 3 weeks, I had weekly ultrasounds as I was still bleeding but our baby was holding on and was getting stronger every day.
It Was All Going So Well
When I was 8 weeks the bleeding had stopped and things were starting to look up. For the next 25 weeks, my pregnancy was relatively easy, other than the typical morning sickness (which happened any time of the day) and the heartburn.
We moved into our new home, my partner and I turned the big 30 and we had our gender reveal/baby shower. IT’S A GIRL!! ( I always knew deep down).
Then…It All Changed
At 33 weeks I went in for a routine ultrasound to check on the position of my placenta and the growth of our baby girl due to me only having a two-vessel cord. Within 15 minutes of the ultrasound we went from a low-risk pregnancy to high-risk pregnancy. It was discovered that our baby had stopped growing and was very tiny only measuring at 28 weeks – 5 weeks younger than what she was meant to be.
We went straight to the hospital very concerned about what this meant for our baby. At the hospital, we were advised that they needed to get organised as our baby girl would be coming any day and we would more than likely be sent to Melbourne for delivery.
It Was All Happening So Fast
Another ultrasound was organised for two days later to confirm our baby’s size and to make sure no other complications had been missed. At the ultrasound, it was confirmed that our baby girl had stopped growing so we went back to the hospital to figure out what would happen next. After two hours at the hospital, a doctor came into the room and advised that our baby girl needed to be delivered via emergency cesarean now.
Filled with mixed emotions of excitement and worry we welcomed our beautiful princess Charlotte Ann Noonan, born on 14 February 2019 at 6.15pm, weighing in at only 1204grams, her height was 37cm and head circumference was 26.5cm.
Love From A Distance
Charlotte was taken away immediately and put on CPAP (oxygen) while the doctors prepared to have her transferred to Geelong. Michael was with Charlotte straight away while I was in recovery. Charlotte was airlifted to Geelong 6 hours after she was born and at this time I hadn’t even got to touch or hold my sweet baby. All I got to do was look at her from a distance.
A day later, I was transferred to Geelong 400km away and after a long 7 hour ambulance ride I finally got to hold my baby girl for the first time. While in Geelong the doctors advised that a genetics test should be done to figure out why Charlotte stopped growing.
After three and a half weeks and lots of ups and downs, Charlotte was finally transferred back to Wodonga on 11 March 2019.
Home At Last
Finally we were home. I had missed my other kids so much and just when we thought we were through the worst of it, on 13 March, our world was turned upside down.
Our World Was Turned Upside Down
The genetics test came back revealing our worst nightmare. Charlotte, our beautiful strong baby was diagnosed with Wolf-Hirschhorn syndrome. A rare genetic condition which affects 1 in 50,000. With Wolf-Hirschhorn being so rare and so unique to each individual, it’s hard to know what life will be like for Charlotte. The thoughts that ran through my head, I am completely ashamed of today, but what was I meant to do?
Our Doctors Had Never Seen This Before
We had our paediatrican explain to us that they have no idea what this means for Charlotte and her quality of life. He also explained to us that this is the first case of this syndrome in our region and that even though he had studied the syndrome at university he and the other paediatricians had never seen it before.
I was devastated and couldn’t stop crying. How was I meant to do this and raise my other kids at the same time? This wasn’t how I had pictured my life and at the same time, I was grieving the daughter I thought I was going to have.
I Was Furious At Myself
I was so angry at everyone but mostly at myself. Why hadn’t I pushed for more testing in the early days of our pregnancy when I was bleeding? Why didn’t I follow my gut when I thought things were not right with our pregnancy? Being told that my daughter would more than likely be non-verbal and never hear her say mummy or daddy, the words that as parents we take for granted. She may never be able to run up to the front door to meet her daddy when he gets home from work. Then you have people saying to you that she will be OK or god wouldn’t give you anything that you couldn’t handle. I know that they are just trying to comfort us but it makes this situation so much harder.
What We Know About Wolf-Hirschhorn Syndrome
What we do know about Wolf-Hirschhorn syndrome is that Charlotte will have physical and intellectual disability, difficulties walking, more than likely be non verbal, seizures, poor growth, feeding issues, immune deficiencies, skeletal abnormalities such as scoliosis and kyphosis, dental and eye issues, low muscle tone and motor skills such as rolling, sitting and standing are significantly delayed.
Charlotte is currently feeding mostly through the nasogastric tube and will eventually need to have surgery to have a percutaneous endoscopic gastronomy (tube to her stomach). Charlotte will need continuous help from Physiotherapist, Occupational Therapist, Speech Therapist, Neurologist, Dietitians, Ophthalmologist and Dentists.
Charlotte will also need medications, learning devices, walking aides, home and car modifications and much more as she grows. Unfortunately, due to Wolf-Hirschhorn being unique to each individual, it’s really hard to know or fully understand what life will be like for Charlotte. The only thing the genetics team could tell us was, what had been deleted from her chromosome 4 was a very crucial part of her DNA.
Charlotte is almost 5 months old and we are already starting to see the impact this syndrome is having on her. She is still like a newborn baby and due to her low muscle tone, she has trouble lifting her head and she isn’t even attempting to roll over. There are issues with her eyes where she doesn’t fix or follow which means she doesn’t smile much and she isn’t grabbing at things.
Charlotte has already had one seizure and she is missing her milestones. She feeds mostly through the nasogastric tube as she only takes about 10ml orally. She used to take about 30ml but ever since her seizure about a month ago she hasn’t been doing as well.
With continuous trips to Melbourne to see specialists and the 3 and a half weeks we spent in Geelong when she was born, we have found ourselves stretched financially. We went to Centrelink to try and get some help but we are only entitled to a healthcare card and $129.80 per fortnight for carers allowance. We asked about the Disability Careers Pensions and we were told that my husband earns too much due to the overtime he does to try and help us get by. This now means I will have to go back to work to be able to afford the ongoing costs with giving Charlotte the best medical attention we can find. Going back to work has its own issues as Charlotte isn’t able to attend a normal daycare due to her immune deficiencies, feeding and level of care required so we have had to source in-house care.
Some days are better than others and I still cry when I think about what our lives will be like but I just look into my baby’s big eyes and everything is so much better. I couldn’t imagine my life without her and she has completed our family. She is our miracle!
Every Little Bit Helps
My amazing sister-in-law has set up a GoFundMe page to help us with the escalating costs we face looking after our daughter. Please consider donating to help us give Charlotte everything she needs and deserves. Every bit will be a huge help!
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