“We hope that Ava’s story can create awareness for Alagille syndrome and teach other parents the signs and symptoms. By sharing our story, as parents, we hope this allows others to feel that they are not alone because we know that it can feel as though you’re the only people in the world when dealing with a medically complex child and how hard it can be to keep fighting a silent battle for your child every day.”
Hannah and Lewis
Name: Ava Louise.
Story: Ava was born in September 2021 displaying severe jaundice from birth. After spending several weeks in her local hospital receiving a range of treatments, she was transferred to Leeds Ward L50 for specialist care.
Diagnosis: Alagille syndrome.
When Diagnosed: 2022.
Treatment and Outcome: Ava received a liver transplant on 26 May 2022 from her mum as a live donor. Sadly, following post-transplant complications and acute kidney failure, Ava lost her fight for life on 1 June 2022.
Support in our community:
Ava’s parents told us, “We hope that Ava’s story can create awareness for this rare disease and teach other parents the signs and symptoms. By sharing our story, as parents, we hope this allows others to feel that they are not alone because we know that it can feel as though you’re the only people in the world when dealing with a medically complex child and how hard it can be to keep fighting a silent battle for your child every day”.
Ava was born as quite a surprise to her parents and family. On the 25 September 2021 Hannah went to her local hospital A&E with suspected appendicitis. Soon after arriving she gave birth to a miracle daughter Ava Louise in the A&E toilets.
Hannah goes on to tell Ava’s story in her own words…
“After resuscitation, Ava was taken straight to the neonatal unit for tests and bloods.
While coming to the realisation I was now a mummy I went to see my daughter, connected up to wires and machines, poked and prodded by needles, and in an incubator because she couldn’t maintain her own body temperature.
My mum Sarah (Ava’s grandma) stayed with me the whole time - and shortly after swapped places with Ava’s daddy, Lewis, who then came to meet Ava for the first time.
Ava was severely jaundiced when she was born, she was put under the UV light for a few days which meant minimal chance to hold her and holding her hand through the small incubator doors.
We spent a few weeks at our local hospital watching nurses do blood tests, ultrasounds, caring for Ava and being such a big support to me and Lewis as new parents, learning as we went along. Ava started to slowly gain weight and take to milk through her mouth rather than the NG tube. This gave us a slight chance of hope for home and meant that in terms development steps in NICU, she was slowly showing “normal” signs. However, Ava’s jaundice didn’t go away, and blood tests were showing she had high bilirubin levels which meant issues with her liver.
Our local hospital contacted the closest liver specialist centre - Leeds General Infirmary and we transferred there under the care of their specialist doctors. This is when we realised our child would have complex medical needs.
Arrival at Leeds
On arrival at Leeds General Infirmary Ava was taken for a HIDA scan. This scan is used to diagnose problems with the liver, gallbladder and bile ducts.
Ava was initially treated with suspected biliary atresia where bile ducts inside and outside of the liver can’t flow to the intestine.
Whilst the HIDA scan didn’t confirm any diagnosis, Ava was taken to theatre for a kasai procedure at only 6 weeks old (typically used for children with biliary atresia). The intention was to remove blocked bile ducts and the gallbladder and replace them with a segment of her intestine.
Out of theatre and back on the NICU ward the doctors told us that Ava’s condition was not in fact biliary artresia and gave us the devastating news she would need a liver transplant.
After a week in NICU, Ava was taken to the liver and kidney ward (L50) where we met the specialist nurses and doctors, spending a couple of weeks while she recovered from the surgery.
It had been just 8 weeks since her birth and, as parents, we had fought extreme mental battles, received devastating news and watched out little girl face major surgery so young. Ava’s consultant, Murumbo, noticed how we had become disheartened and gave us the gift of home and a chance at something normal, we will forever be grateful for that.
Ava spent just over 2 weeks at home where she got the chance to meet her family and our friends while being on many medications and a feeding plan. We are extremely grateful to have spent her first Christmas at home with her and took her to see Father Christmas, the Aquarium and did so many other things during this time. Ava remained under the liver specialists in Leeds and a dietician focused on managing Ava's weight gain. A local health visitor also kept in contact with Ava's dietician and the hospital, weighing Ava weekly.
This time was cut short after a phone call from the hospital telling us that Ava needed re admitting and that this stay would be long-term until she was ready for her transplant. Her weight gain was poor while she was at home and she was weighing less than she should for her age. We wanted her to be as big and strong as possible for transplant. We were told she would be put on Total Parenteral Nutrition (TPN) and kept in hospital until the time was right. At this point we still had no diagnosis for Ava, we just knew she was still jaundiced and that at some point she would need a new liver.
Ava was readmitted back to Ward L50 on 29 December 2021. Straight after the day of admission she was taken to theatre where she had her broviac line placed in her chest to feed her directly through her blood stream. When admitted to hospital, Ava’s weight was just 2.90kg. We spent 5 months on Ward L50 where she grew to 6kg and started to develop her character.
Ava absolutely loved the play team and nursing staff. She developed a sassy character where she expected attention first thing in the morning from the play staff when they walked through the door. She made it very clear she wasn’t happy if she didn’t get her way. The play team and nurses became our family and not only cared for Ava but also for me and Lewis while going through such a challenging time. We will forever be thankful for them.
Ava had genetic blood testing done once she was readmitted to the ward. The symptoms of jaundiced, her spine, facial features and blood levels pointed in the direction of Alagille syndrome which was confirmed with genetic testing. This was a condition we were hoping to avoid due to its rarity and difficulty to treat, but with help from the ward staff we took it on and Ava didn’t let it bother her.
There were a few times Ava’s haemoglobin levels dropped during this stay and required multiple blood transfusions which again appeared to cause her no stress. She fought off e-coli infections, was put on antibiotics, had an endoscopy, blood tests and was regularly poked and prodded by needles but her happy character took on absolutely anything in her stride and didn’t let it bother her, she was a true warrior.
I experienced my first Mother's Day on the ward, made special by Lewis and the play team who made cards with Ava for me. Both Lewis and I experienced our 21st birthday's which were again made special with gifts from the ward who had made us things with Ava, it was truly so special in the circumstances we were living under.
Ava went through her transplant assessment week while being admitted where they did MRI and CT scans, ultrasounds and bloods. We spoke with the surgeons, learnt the risks of surgery and spoke to the lovely doctors who would put Ava to sleep through surgery.
Both me and Lewis put our names forward to donate our liver to Ava and went through all the testing. My liver turned out to be the best match. After five long months waiting on the ward, Ava and I both went into surgery on 26 May 2022.
I had 25% of my liver taken in the morning and it went straight to Ava where she spent 12 hours in surgery and had her transplant. The day was absolutely full of emotion, however, as I was also having surgery I didn’t get to see Ava until being discharged 4 days later. Lewis would keep in contact with me and tell me how she was doing. All was going well until the day after I was discharged.
While Ava’s new liver took really well, there were other complications that came after.
Going back to see Ava was hard as she was extremely swollen and almost triple the size she was before her transplant. Around 11am, five days after life-saving surgery, Ava went into cardiac arrest for the first time. After 4 minutes of CPR she was breathing on her own again.
The rest of the day went smoothly with no serious signs of concern for Ava's recovery, however Ava went into cardiac arrest again around 12 hours later. She recovered again but shortly after went into her third arrest.
At 2:00am on 1 June 2022, after her 3rd and final cardiac arrest, the doctor and nurses told us our precious girl was gone and that there was nothing else they could do.
After 8 months of nothing but a fight from her, our daughter was tired of fighting. Ava went into acute kidney failure which had caused sepsis before she went into cardiac arrest and suffered from haemorrhage."
Avas condition, Alagilles syndrome, causes a decrease in the flow of bile out of the liver which leads to reduced digestion of dietary fat and vitamins (A, D, E, K). The key clinical features are poor growth, itching, and progressive liver injury. There is no treatment or cure.
We hope that Ava’s story can create awareness of a disease that is unknown, and also teach other parents the signs and symptoms. We also hope that our story as parents allows others to feel that they are not alone, because we know how it can feel as though you're the only people in the world when dealing with a medically complex child, and how hard it can be to keep fighting a silent battle for your child everyday.