Rare Disease Day - 28th February 2015

Holly’s Story

Our Dearest Holly – by her Mum and Dad

Holly's StoryHolly was born 1st December 2011. She was our second child, a little sister to Callum who at the time was 18 months old. Holly didn’t have a straight forward delivery and she was three days old when we were informed of her exact condition before she was transferred to Birmingham Children’s Hospital for an MRI and possible surgery. Holly had a Dandy Walker Cyst, secondary hydrocephalus, a coloboma in her left eye, epilepsy, CMN and Neurocutaneous Melanosis meaning there were moles on her brain and spine as well.

At BCH we were told surgery was not yet needed, that her conditions would be monitored and Holly had her first MRI. We were discharged 18 th December and enjoyed her first Christmas at home.

Although Holly’s life was hectic with appointments we managed a quiet first three months. Holly was a typical baby apart from she never smiled. During a routine check, Holly’s head circumference had increased, a lot, and by the evening we were back at BCH. An MRI showed her cyst was filling with fluid and putting pressure on her brain. Four days later Holly had a shunt fitted into her cyst to correct this. Five days after surgery Holly was discharged and the second day home Holly smiled!! It took three months and surgery but she did it, we were so happy, the camera never left me until I caught that smile! From that moment on we constantly asked her for a smile. During the summer, we went out more. Holly got stared at and I was constantly asked if she had chicken pox, as over these first months Holly’s CMN had multiplied considerably and now she was covered from head to little toes in spots. But we didn’t let it stop us, Holly truly was beautiful.

Holly's StoryWe began our own research and soon learnt of Dr. Kinsler, Jodi and Caring Matters Now (via Deal or No Deal!). At our next dermatology clinic we requested a referral to Dr. Kinsler and our appointment came through for October 2012 and another MRI was requested.

She had the MRI in February and it showed potential spinal problems but as the results were unclear, another scan was requested for April along with a skin biopsy. Holly couldn’t sit unaided, so we lived with worry of spinal problems until April, when results indicated no significant change in the NCM. We continued physio to help with her delayed development. It was during the spring/summer of 2013 that Holly really came into herself. She was happiest at home and although she never learnt to crawl she could roll and this is how she got about and into mischief. Her hair was unruly and seemed to come from nowhere but just added to her beauty. She rabbled all the time and loved her “Mama”; she didn’t like it if I left her and would be very vocal in telling me off when I returned. Her favourite words were definitely “more bic pease” or “more coc” (chocolate)! Holly loved her food and you couldn’t eat in front of her without sharing! She loved her kisses and cuddles too but was no pushover. At age 20 months, Holly finally managed to sit unaided and I was so proud.

Holly's StoryShe was doing really well at this point, we felt positive, and Holly even started to weight bear a little on her feet. She loved to be sat on the sofa only to roll herself off into a standing position. We really believed that one day she would walk. In October 2013 Holly had a routine MRI; she was doing so well we weren’t worried. But it all went wrong. Ten days later we were told there was a tumour at the top of Holly’s spine, sitting under her cyst. Due to its location the surgery was very risky; paralysis and brain damage both being high risks if she made it through. She was booked in for surgery the following Wednesday. Our heads were spinning, not our little princess.

Surgery took over five hours. I cannot describe the feelings we had walking into the operating room. Her head was heavily bandaged and her beautiful face was swollen but she was alive and she was moving. Surgery wasn’t a complete success; they were unable to remove the entire tumour as it posed too much risk. Just seven days later Holly was discharged, my brave little girl was recovering so well. Now we awaited her biopsy results. The surgeons had already expressed their opinion; they expected the results to be “unusual”. They expected cancer. A week later, that’s exactly what we were told and that all treatments available for this type of melanoma were experimental. We were referred back to GOSH and met with Dr. Kinsler to discuss Holly’s options. Our only option was an unlicensed drug, still in trials, but first we had to get the pharmaceutical company’s permission. We were told that untreated, Holly had maybe six months but at the same time we were told there is no treatment. How do you process that?

Holly's StoryA week later Holly had a massive seizure and I called an ambulance. I honestly thought those six months had come early. A CT scan revealed a white mark on her brain and we were sent to BCH to stabilise Holly and then back to GOSH. The day we were to be discharged Holly spiked a fever and so, sadly, she spent her second birthday in hospital, something we tried desperately to avoid. Once home, Holly settled and we celebrated her birthday late; her cheeky smile was out in full force! By the weekend I noticed that Holly had stopped rolling and wasn’t using her arms. All of Holly’s care was now at GOSH and we had a clinic appointment on the Monday but while en route I received a call to say Holly’s MRI had been scheduled for the next day. I explained Holly’s deterioration to her oncologist and the MRI was amended to include her spine as well. The scan revealed her spinal tumour had already regrown, just six weeks post-surgery and that she had a second tumour on her brain; the white mark. We left GOSH the next day completely and utterly devastated. The only hope we had, that Holly had, was that we had been given verbal consent to use the trial drug. Holly remained seizure free on her meds and she started the trial drug on 20 th December. Holly hated being in hospital and the only way to calm her was to walk her around the ward in her pushchair. By now Holly had lost the ability to sit unaided, to roll and to lift her arms. It was heart-breaking to see her deterioration.

Holly's StoryOver the next six weeks or so, we had weekly clinics at GOSH and Holly appeared to improve slightly. She began to raise her arms, just a fraction, and even managed to roll a very short distance and so her next MRI was scheduled for February 11 th . This was the big one; it would tell us if the drug was working. In the lead up to the scan Holly was miserable, and had begun to vomit. We needed that MRI but at the same time we didn’t want it. She had the scan and we got the results quickly. We never even discussed the spinal tumour as the one on her brain appeared to have grown from roughly the size of a coin to the size of an apple. The drug wasn’t working and there was nothing else they could do. Holly had weeks, at best, left. We left GOSH as soon as we could and that night I booked us a family photo session.

Three days after our photos Holly fell asleep and four days later she passed away peacefully, in our arms. I have no words to describe the loss we constantly feel but now we have a choice, we can let our grief consume us or we can ensure Holly’s memory lives on by fundraising and that’s what we’ve chosen to do. We want Holly to be a part of finding a cure and this way she can.

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