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.

charlotte-hospital

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-tests

The Impact

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.

Financially Stretched

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!

Share your thoughts below.

charlotte-siblings

 


  • I had never heard of this condition. I wish you and your family all the best. There are a lot of charities out there who may be able to help in some way.

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  • I an sure you and your husband are doing everything possible to care for Charlotte. I think the Carers Allowance is tax free which means you may not have to declare and pay tax on it, not that it is much consolation. Check if she qualifies for NDIS assistance. When you need special equipment for her consider approaching the Lions Club for assistance. Unless their method has changed they order and pay for the equipment as people haven’t done the right thing in the past. I am not sure what the procedure is in getting the details and passing them on. I know one family were lucky to get a special custom make tricycle for their daughter who has severe muscle problems with her legs. Pushing the pedals is helping to strengthen her legs. I don’t know if any of the other Service Clubs would be able to assist you with equipment or not.

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  • My thoughts are with you and thanks for sharing such a personal story

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  • Oh, dear sweet lady, I am overcome with compassion for you, your husband and your children, but especially for your daughter Charlotte Anne. I cried when I read this for it is a mother’s worst nightmare to be told that something is not right with your child and that it will affect their development. I am standing in prayer for your daughter Charlotte, you, your husband and children. Have faith and believe, because I am believing for and with you for Charlotte to baffle medical science and to overcome this disease. I know that the God who created her can replace the crucial deleted chromosome 4 in her DNA. I pray for strength and guidance for you and your husband in everything you do in the development and assistance of your dear little girl, and most of all, HOPE for Charlotte Ann. What a beautiful girl you have produced. I also hope that you will not have to go to work and leave her with strangers as I believe she is better placed in being cared for by you. She needs you and your family members, not strangers. They will not understand her or her needs like you and your family will. I pray for continued healing for this dear Charlotte Ann that as she grows and develops she will overcome all obstacles in her life for yes indeed, she is a miracle and it is God’s will she is here and so I pray He will keep watch over her and place His angels in charge over her life to assist and guide her as she grows. Never give up and never give in. There is too much negativity in this world and not enough positivity and encouragement for those who need it. Hold on with positivity for yourselves, your other two children and especially for dear Charlotte Ann. I speak healing and blessings over her life and may she be a continual source of joy and blessing to you both and to your children and grow up into a beautiful and totally healed child and adult. I will seek to donate to your Go Fund Me page for I believe Charlotte is a worthwhile cause because where there is life, there is hope, but most importantly there is love. God bless you, your husband and children. It will be interesting to hear her progress. God bless.

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  • Oh, dear sweet lady, I am overcome with compassion for you, your husband and your children, but especially for your daughter Charlotte Anne. I cried when I read this for it is a mother’s worst nightmare to be told that something is not right with your child and that it will affect their development. I am standing in prayer for your daughter Charlotte, you, your husband and children. Have faith and believe, because I am believing for and with you for Charlotte to baffle medical science and to overcome this disease. I know that the God who created her can replace the crucial deleted chromosome 4 in her DNA. I pray for strength and guidance for you and your husband in everything you do in the development and assistance of your dear little girl, and most of all, HOPE for Charlotte Ann. What a beautiful girl you have produced. I also hope that you will not have to go to work and leave her with strangers as I believe she is better placed in being cared for by you. She needs you and your family members, not strangers. They will not understand her or her needs like you and your family will. I pray for continued healing for this dear Charlotte Ann that as she grows and develops she will overcome all obstacles in her life for yes indeed, she is a miracle and it is God’s will she is here and so I pray He will keep watch over her and place His angels in charge over her life to assist and guide her as she grows. Never give up and never give in. There is too much negativity in this world and not enough positivity and encouragement for those who need it. Hold on with positivity for yourselves, your other two children and especially for dear Charlotte Ann. I speak healing and blessings over her life and may she be a continual source of joy and blessing to you both and to your children and grow up into a beautiful and totally healed child and adult. I will seek to donate to your Go Fund Me page for I believe Charlotte is a worthwhile cause because where there is life, there is hope, but most importantly there is love. God bless you, your husband and children. God bless.

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  • I have never heard of this either. My prayers and thoughts are with the entire family xo.

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  • Heartbreaking especially with all the uncertainty.

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  • I have never heard of this syndrome before. I wish this family all the best.

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  • not heard of this..what a journey

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  • I can understand this is a condition you have to come to terms with and that this is a process of grieve and acceptance. I hope and pray this family will receive the help & support they need. Bless them and bless their wee Charlotte.

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  • My prayers are with that family. I hope she gets better.

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  • Poor bubba hope she is doing better now

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  • Do hope all turns out well for you and your family.

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  • Being such a rare condition, most would never know until bub is born. Wish this beautiful family positive thoughts and happy memories with their little ones.

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  • I hope they can make some beautiful memories with her in the time they have.

    Reply

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