We are Kavil & Krupa. We met in 2010 on our first day at university, got married in 2020 and in 2021 our amazing daughter was born.

Everything about her was extraordinary from the very start. During pregnancy she was always on the small side, but that didn’t give us any reason to be concerned. At the 30 week and 5 days stage we realised her movements had changed and this led to her being delivered via an emergency caesarean section. Her condition was initially poor requiring 3 blood transfusions but following some great work by the Special Care Baby Unit (SCBU) team at Watford General hospital she was stabilised and began her journey in the world. This included trips to Luton and Dunstable Hospital as well as GOSH where she was extensively checked to try and understand what had caused her premature arrival. 

As parents during this time, the initial stress and anxiety slowly dissipated and turned to anticipation of the time where she would be healthy enough to come home. Sure enough, after 6 weeks in the SCBU we were given the all clear to bring her home and this came with the relief that we could start a normal life with our new little family.

The next few months included various follow ups which thankfully didn’t generate any major cause for concern but as a precaution we were given an appointment with the genetics team to identify or hopefully rule out any underlying conditions. At this appointment we were made aware of a rare genetic condition called Fanconi Anaemia (FA) which could explain a few things, but we were encouraged not to investigate it too much until it was confirmed. The rareness of the condition and lack of physical traits present in Isla made us doubt that she had FA and so we were hopeful the results would help to rule it out more than anything else.

Over time we were able to put this to the back of our minds and Isla’s 3-month follow up with her paediatrician went as smoothly as could be expected. Isla's First Christmas and New Year celebrations came and went where she was surrounded by mountains of presents and love from so many people she was yet to meet but had been so invested in her life from the very beginning. We were waiting for her final set of vaccinations to protect her as much as possible before we ventured out and this time was edging closer and closer.

January was a month where things started to change. As early as the 2^nd of the month, during breakfast Isla randomly stopped breathing. This was the most panic that we had experienced but luckily as soon as we had dialled 999, the first aid training we had received pre-discharge kicked in and she spontaneously recovered within a minute. A subsequent trip to hospital to have her looked at put our minds at rest that this was a brief resolved unexplained event (BRUE) which is common in newborns. Nevertheless, following this event we were put back from being relatively relaxed to constantly on edge and paranoid new parents, where we could no longer sleep during the night just in case this would happen again without us being there to pull her back. Overall this was another bullet dodged but things were never the same after this point.

Soon after the BRUE we noticed that there was a change in Isla’s feeding behaviour and this seemed odd but after checking with the GP this was put down to a possible viral infection. Then one of her eyes appeared to be swollen and again, we were reassured that this was probably due to an infection and would pass with time. Isla then developed a rash on her abdomen which led to another A&E visit where she was checked and allowed home with the safety net of a return visit if things did not improve after a week or so.

The day after this trip to A&E we had a scheduled appointment with the geneticist with the results of FA. We were expecting something significant as there were a few signs of an underlying condition, but we did not expect to hear ‘Isla has Fanconi Anaemia’. This knocked the wind out of us. After some googling we had found that having FA meant that Isla would likely have some type of cancer in her childhood and, if treatable, again in her adult life. In addition, the average life expectancy would be cut to 20-30 years, meaning that our hopes and dreams for Isla were immediately dashed. After coming to terms with this, we accepted that although we wouldn’t be able to live the life, we had initially wished for, we would make the most of the time we did have and if cancer were to develop, it would be caught early, and the chances of remission would be in our favour. We also hung on to the fact that research around gene therapy was a fast-moving sector and in Isla’s life time a curative therapy for FA would be developed.

Unfortunately, we had little time to get over this news as two days later we were back in the A&E department of our local hospital. Isla’s breathing had becoming concerningly fast and she was found to be severely anaemic. Normally this would be resolved with a blood transfusion, but Isla was incredibly difficult to cannulate meaning it would be several hours and attempts to gain access before she was able to receive bloods and fluids. During this time, we were told that a blood test had revealed that she had abnormal cells, and this came as a complete shock to us both. We were told that cancer was probable but nowhere near this early and so this news was so hard to process. After the hardest 12 hours of our lives we were transported to St Mary’s Hospital in Paddington where Isla’s Leukaemia diagnosis was all but confirmed. We were told to wait for her eventual consultant at GOSH to discuss this further but at that point it became clear that the situation would not have a happy ending.

After a day we were on the move once again to GOSH. During our stay at St Marys and after putting Isla through so much already, we had come to the decision that we would do everything we could if the outcome was positive however if her long term prognosis wasn’t going to change, we would prioritise her comfort and hopefully bring her home so she could once again be surrounded by the people who care for her the most.

To facilitate her treatment, even in the case of palliative care, Isla needed a central line, and this brought about its own risks. The plan was to put Isla on a ventilator whilst under general anaesthetic in order to put the line in and this process would take an hour on average, 4 hours later we were told that the line was put in place however it was not possible to take her off the ventilator and this meant she would need to stay in intensive care until an additional attempt to extubate her was made. 

Each subsequent day brought its own challenges as fluid build up meant that Isla was put in a coma in order to simplify her recovery process and it was becoming apparent, she needed more regular blood transfusions. This was followed by days of apathy where she did not improve, and this meant no attempts of treatment could take place. Finally, after a few days of fluid balancing she was miraculously taken off the ventilator and we were suddenly a step closer to constructing a treatment/management plan for her. During this time Islas consultant was scouring the globe for other experts in FA in order to be able to offer a treatment pathway when Isla was stable enough for it. This included calls to Cincinnati at 11pm and Zoom meetings with specialists in France and we were amazed on how unique Isla’s condition was. We learnt that she was the second youngest patient recorded in literature to have this combination of AML and FA. There was a glimmer of hope with the potential of a bone marrow transplant, however, this came with other complexities such as a finding a donor. It was confirmed that her outcome was likely to be poor.

After being taken off the ventilator Isla was transferred back onto the general ward where the plan was to have a stable weekend before embarking on a treatment plan first thing on Monday morning. At this time, we noticed that Isla had changed, she had gone from a social, vocal and cheeky character to an anxious baby who couldn’t take much more. Unfortunately, this was proven to be the case as on Sunday night she rapidly deteriorated, requiring extra breathing support and another blood transfusion. During this time, it was advised that Isla needs intensive care support that she evidently needed however by the time she made it down she was struggling.

Shortly after this Isla’s suffering was over, she was at peace. It was hard to accept that she was gone even though it was long in the pipeline, however, knowing that she would never have to struggle again or be in pain made it easier to deal with.

Although nothing will change to help Isla we wanted her to be able to help people with FA in the future. She was truly our amazing little baby, and this was made obvious to us by the requests of people far and wide to attend her funeral from her SCBU care team at Watford General as well as people who were looking forward to meeting her but never had the chance.

We cannot express enough how grateful we are for those that donated blood to Isla. Without this precious liquid, Isla would not have had even a minute of life on earth. Although we didn’t get to the stage of bone marrow transplantation, we cannot understate how vital it is to have as many bone marrow donors as possible to give children suffering with FA the best quality of life. You can donate blood and sign up to be a potential bone marrow donor at www.blood.co.uk and www.bbmr.co.uk,  respectively.

We will be incredibly grateful to anyone who would like to support Isla’s legacy. All the money we raise will go towards Fanconi Hope who support families and research linked to FA with additional benefit of gift aid (please tick the box when donating, Gift Aid is a government scheme for UK charities to reclaim the tax you have paid and gain 25% more at no cost or hassle to you).

Many thanks, Kavil and Krupa

You can find more information about FA at the following
website https://fanconihope.org/fa/