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Living without a diagnosis

Being told that your child has a rare liver disease is shattering news. But about those parents who still don’t know what their child’s diagnosis? Here Alana shares her experience of the past year.

Dolly was born 11 weeks premature in August 2018.When she got to 39 weeks gestation (end of October) she developed sepsis and it was at this point her liver began to react. Although she thankfully recovered from her sepsis, her liver did not and because of this our local hospital contacted Birmingham Children’s for advice. It was decided after a week of her bilirubin and INR remaining high that she needed to be seen in a liver unit. There were no beds in the PICU at Birmingham (our closest unit) so instead we were transferred to the NICU at Kings, where she spent 5 weeks before finally transferring back to our local NICU in December. Finally on 23rd December we were allowed home but unfortunately after only four days she crashed at home and was rushed to our local hospital where it was discovered that bronchiolitis had caused both of her already weakened lungs to collapse. It meant a transfer to our nearest level 3 intensive care unit to go on an oscillator. We were told she was very unwell and the next 12-24 hours were critical.  After six days in Bristol Dolly went into acute liver failure for the second time but this time was to be much worse, she started to go yellow, her INR increased and she developed ascites, on top of having four nasty infections in her lungs. She was helicoptered to Kings College London where she remained very unwell. It was very touch and go at this time and the doctors explained that if she needed a liver transplant, her chances of survival were slim because she was so poorly. 

Dolly remained on life support ventilation from December 28 until early March when, despite everyone’s doubts she managed to be extubated into CPAP shortly after going for an open biopsy. The biopsy showed she had severe bridging fibrosis and quite a damaged liver. She was still considered to be in liver failure even when she was no longer on life support as her INR remained very high despite her slowly getting better elsewhere (ascites went down also) so there were concerns over whether or not her liver was going to recover at all. 

She also began to have seizures at this time and the neurology team became involved and she was taken for an MRI to assess any damage done to her brain. Then one day her INR went down to 1.4 from 2.5. No-one believed it so they repeated bloods which confirmed it. After a week and a half of relative stability, the doctors felt it would be fairer on us to be transferred to Bristol for monitoring so we could be closer to home, as London is three hours from where we live, and we have other children too. 

We stayed in Bristol for three weeks and were then transferred to Gloucester before finally getting home in April. Dolly was initially having bloods every week but that has been spaced out a little bit now to once a month, providing she stays well. She is under seven different medical teams at three different hospitals, so life remains quite busy! We’ve had nine admissions since April and although her liver has reacted to her becoming unwell, it has managed to settle down each time. 

As far as Dolly’s diagnosis is concerned, we are awaiting her full genetic screen results but every test that can be done to investigate her liver condition has been done. We’ve been told we’re unlikely to get a diagnosis of her condition which is something we’re working hard to accept. It doesn’t necessarily change anything but it could at least help us understand what the future may hold if we knew the condition. Dolly is still on oxygen 24/7 so she is having various tests under her respiratory team to investigate her lungs. She remains under neurology and needs an MRI in a year or so to see if there is any noticeable damage following her hypoxic events. She sees a physio and SALT teams once a month for ongoing support and she soon has an amazing chair coming to help her development as her trunk strength is still limited.   

The hardest thing about no diagnosis is not knowing what the future holds and not being able to research a specific condition. Only time will tell which way things will go and some days that is really tough. It’s also hard to find other people in the same situation so it can feel a bit lonely at times. 

It was the staff at Kings College Hospital told us about CLDF. We find the leaflets and website really helpful as we know we can trust the information It’s helped us separate fact from fiction and become liver experts in our own right! Lois also messages us to check in on us and that’s been really nice to know that someone is there if you need them. 

Dolly’s dad and I deal with things in quite a different way, so we’ve certainly had to make adjustments too. There have been times where we felt like our hearts were literally breaking but we dust ourselves off and keep fighting for and with our Dolly Doo. We are home and we keep adjusting and try to keep family life as normal as possible. I’ve given up my job to become Dollys full time carer and to provide stability for all of our children as much as we can. 

We really do try to live a “normal” life as possible, not only to give Dolly the best experiences we can but to also keep life as normal as possible for our other children (Fenton 2, and my bonus children Charlotte 15, Aimee 12, Bella 8). I don’t want to say that it limits family life, it just makes it different! Our other children love Dolly and are so supportive when she becomes unwell or it takes us a few hours to get out the house. We have to be sensible about where we go and what we do at times and means Dad and I sometimes do things separately now rather than take Dolly everywhere the other children like to or need to go. 

This has undoubtedly been the hardest and most emotional experience my partner and I have ever had. We feel guilty on the days when we cry because Dolly didn’t ask for any of this and she takes everything in her stride despite being so young. I guess she thinks this is normal life. We’ve had some dark times but despite not knowing what the future holds for us all we are so thankful for having our present, finally getting time all together as a family.

By Alana Johnson

For information on living without a diagnosis you can download CLDF’s leaflet here: Living without a diagnosis – Childrens Liver Disease Foundation (

If you would like to share your story with CLDF please email or fill in a form by clicking here and a member of the CLDF team will be in touch.

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