Violet’s parents discovered she had Down syndrome and congenital heart disease (CHD) during scans scans before she was born. Here her mum, Rebecca, shares their emotional journey of hope, strength and love:
(The photos in this story were taken by and belong to the author, depicting their family’s personal journey.)
We found out that Violet had Down syndrome when I was 16 weeks pregnant through signs on the scan and a blood test, we then found she also had a heart defect during our routine 20 week scan. It was a lot to take in, of course, and we were given a further appointment with a fetal medicine consultant for a more thorough scan. This is when they confirmed that the heart defect looked serious.
We were taken into a side room, told to prepare ourselves for the worst and advised that termination was an option. We decided to find out the sex that day, as if we had to say goodbye we felt we wanted to know. I was over the moon to find out we were having a girl.
We were given an appointment for the following Monday at a specialist hospital in London. We were told they would do a more in depth scan and advise us of our options depending on what they found.
That weekend was one of the worst weekends of my life. I remember calling my mum and just crying down the phone, part of me was so happy to know I was having a girl and the other part was so scared that she wouldn’t survive the pregnancy. We told our close family and friends and tried to stay positive, but to be honest, it was impossible. I really felt the hospital thought we would be told the pregnancy would need to be ended on Monday when we visited London. I found Tiny Tickers on Instagram and it helped to read other parent’s stories over that weekend.
We were thankfully wrong. The consultant did a very thorough scan (it took ages, we were blown away by how much detail they could see) and they told us that they suspected that our daughter had a heart condition called tetralogy of Fallot (ToF).
Babies born with ToF have less blood flowing to the lungs, meaning that the level of oxygen in their blood is low. The consultant explained everything to us, reassured us we would be closely monitored from now on and told us she would need to have heart surgery in the first year of her life. They also reassured us that the surgeons had done the operation many times with a good success rate. We left London feeling very anxious of course but relieved that we could continue with the pregnancy.
Our little baby girl was fighting so so hard to survive.
We continued to have regular check ups both at our local hospital and in London. I really enjoyed having the extra scans and seeing her growing. We were classed as very high risk, but were able to plan to have her at our local hospital. They explained she would likely be in the NICU for a few days.
At 35 weeks and five days we went for a scan and were unfortunately told the fluid to the umbilical cord was restricted. They decided to keep me in to monitor the baby and scheduled a C-section. They also gave me a very painful injection in my leg to help Violet’s lungs. The fact that we were having a C-section came as a complete shock, as we had planned a natural labour, but we knew we needed to get our daughter out safely. I had less than 48 hours to get my head around that part!
They kept me in hospital and scheduled the C-section for two days later. Violet arrived at 5.26pm weighing 5lb 10oz. There were a lot of medical professionals in the room, it was very surreal and she was whisked away shortly after I had a glimpse. She was absolutely perfect, so tiny, needed a little oxygen in theatre and then Daddy went with her to the NICU whilst I was stitched up and taken to the recovery ward with my mum.
Then came the longest night of my life. I wasn’t allowed to go and see Violet until I felt ok to move and use the toilet, which was at 4am the following morning. David had sent me lots of photos, of course, and he then took me down in a wheelchair and I had my first cuddle with my beautiful daughter. She looked so fragile but was doing well. She had a NG tube for feeding and a little time under the light for jaundice.
We stayed in the NICU for a week. The first few days she was in an incubator but then I was lucky to be given a room on the NICU ward so I could have Violet with me in a cot. I learned how to feed with the NG tube and get to know the saturation levels etc. Every three hours a nurse would come in to help and watch me feed her. As a first time mum this was a lifeline, it gave me time to connect with Violet with the help of medical professionals nearby. She was so tiny and fragile, I’ll never forget them putting so many blankets on her to keep her warm.
They also allowed us two people to visit, but it had to be the same two people for the whole time, so we chose our mums. Violet had so many tests while we were in hospital. The staff were amazing and I will forever be grateful.
We had two days at home and then travelled up to London (that was painful sitting in a car for hours only a week after a C-section). We were there most of the day as the echo had to be re-done. It showed that Violet had two different rare heart conditions (DORV with TOF), so they were checking thoroughly.
Double outlet right ventricle (DORV) is a rare congenital heart defect where the pulmonary artery and the aorta (the heart’s two main arteries) both connect to the right ventricle. Along with this Violet had the four issues that come with TOF -infundibular stenosis, ventricular septal defect, overriding aorta and right ventricular hypertrophy.
It was a lot to take in, but we were advised that the surgery would still be the same procedure and we needed to keep an eye on her saturation and watch for cyanosis. We were given a lot of information and a guide on how to look out for cyanosis. The hospital was very thorough and made sure we understood everything. We left feeling very anxious and scared. They advised Violet would be closely monitored and surgery would be in the next six months. We had a nurse visit us weekly to check her weight and saturation levels.
Two months later, Violet had a check up and unfortunately one of her arteries had narrowed further and her saturation levels had dropped. They put her on a medicine called propranolol to slow the heart down and a special high calorie milk to increase her weight gain. 6kg was the weight target given to us. Muscle tone is lower in babies with Down syndrome so the heavier she was, the better for recovery from a major operation.
We kept Violet very close to us, as we were constantly watching her for signs that she wasn’t coping. She was our precious little warrior and we, as her parents, didn’t want to put the responsibility onto anyone else (if that makes sense). So she didn’t get time alone with anyone really, which I’m sure upset some. But we needed to keep her close and watch for signs. Having a child with a congenital heart defect and Down syndrome meant we were on edge most of the time.
We were allocated a clinical nurse who was amazing and always on the end of the phone if I had any questions. After an agonising eight month wait, we got the date for surgery. I should not moan really about the wait because I know of others who have been blue-lighted into hospital and needed the same surgery as an emergency, so we were fortunate, I guess, that we were able to plan it.
I knew what to expect, to some degree, through making friends with a mum whose baby also had TOF and was operated on before Violet. I saw the after-photos etc and therefore Violet being connected to so many machines after surgery wasn’t a complete shock.
Violet recovered well. She came home with an NG tube for a few months, and we enjoyed her first Christmas together. However, her heart could not be fully repaired. The right ventricle was further right than they thought, the VSD could not be fully closed and the widening of the pulmonary artery is temporary. The artery will need to be replaced, so she will need further surgeries down the line. This could be when she is a young teen – it all depends how well she copes with the repair as to when.
We have regular check-ups and she is coping well. She has been so so brave throughout and I am very proud. I will never forget the agonising wait while she was in surgery, or the constant beeping of the machines keeping her alive or how amazing the first cuddle after surgery was!
I dread the next time!
Following her surgery I decided to get a tattoo to represent her heart condition and Down syndrome. A heart, ECG heart beat, followed by the three arrows that represent us being a part of ‘the lucky few’ alongside the words ‘Love doesn’t count chromosomes’. When I feel down about things, I just look down at my arm and it reminds me how much Violet has been through. I adjust my thoughts and smile.
Violet is now 28 months old and loving life. I set up an Instagram page to document her adventures (violets_extra_adventure) and I love to shout to the world how amazing life with Violet is despite having Down syndrome, silent aspiration, a congenital heart defect and global development delay. Yes, she meets her milestones a lot later than her peers, and yes, she isn’t yet talking, but she is one determined little girl. I know she will get there one day and, in the meantime, we celebrate every little bit of progress.
I have gained a lot of knowledge over the last two years from the Positive about Down Syndrome (PADS) website, Tiny Tickers on Instagram, the staff at the hospital and the friends I have met along the way too. They have all helped me to understand Violet’s heart condition and realise that Down syndrome doesn’t define her. I hope I can do the same and help others.
Life isn’t all sunshine and rainbows, and the future worries me the most, but the support is out there and the communities I’m now a part of are incredible. We’re also very lucky to have the most supportive family and friends around us.
I have always felt extremely lucky to be Violet’s mummy. She is a true warrior, absolutely amazing, and brings joy to everyone she meets. Her smile is contagious and I hope she grows up to know how loved she is.
Love doesn’t count chromosomes.
You must be logged in to post a comment.