“Whatever condition Eilish had, I was convinced that the advances in medical research meant there would be treatment available.”
When Eilish arrived into the world in November 2013 – joining her brothers, three-year-old Innes and 15-month-old Keir – dad Colin and his wife, Kirsten, thought their family complete. Initially, Eilish’s development mirrored that of her brothers and the family enjoyed a wonderful Christmas.
In early 2014, Kirsten noticed Eilish was becoming fussy during her feeds and regularly being sick. After visiting the GP, she was prescribed anti-reflux medication, which felt normal for Colin and Kirsten, as Keir also had reflux as a baby.
When the medicine didn’t appear to have an effect, Eilish was taken to Victoria Hospital, Kirkcaldy. After overnight observations, it was decided she was well enough to go home.
“Mothering Sunday in 2014 was on 31 March,” says Colin. “I can still remember Eilish sitting in our house in her pretty red dress. Two days later, we returned to hospital for a further appointment and Eilish was admitted. It was clear she was no longer gaining weight and a tube was inserted to help her feed.
“I was initially pleased to hear that Eilish had gained some weight over the weekend, but the consultant on duty, Dr Morrice, had some concerns about Eilish’s stiffness and wanted to do some tests.
“If I close my eyes, I can still visualise the clunking of the MRI machine and the heat in the room as I desperately tried to keep Eilish settled and calm.”
Searching for answers
When Eilish’s MRI was reviewed by specialist consultants at the Royal Hospital for Sick Children in Edinburgh, they noticed some abnormalities and asked the family to travel to Edinburgh for further tests.
“Kirsten and I were upset and wondered why this had happened to our little girl,” says Colin. “After the initial shock, I had turned my mind to selling the house and raising money to fly to America for treatment. Whatever Eilish’s condition, I was convinced that the advances in medical research meant there would be treatment available.
“Despite having been told by Dr Morrice not to use ‘Dr Google’, Kirsten began searching. She found the website of an organisation called Hunter’s Hope, set up by Jim and Jill Kelly. For anyone like me who is a fan of American Football, Jim Kelly was the quarterback of the Buffalo Bills. They lost their son Hunter to Krabbe disease.
“I still remember Kirsten passing me her iPad and saying, ‘Surely she doesn’t have this awful Krabbe disease?’ The website listed the symptoms. Eilish ticked every box.”
“There is no cure…”
“My earlier thoughts of going to America for treatment faded quickly…” says Colin. “If it was Krabbe disease, the words ‘there is no cure’ featured prominently in all the material.”
That evening, doctors told Colin and Kirsten some devastating news: they were fairly certain Eilish had a disease for which there was no cure. But they needed to do a blood test to confirm, and so Eilish was taken back to the local hospital, Victoria in Kirkcaldy.
Colin remembers: “The nurses there had found a CD that we’d been using to get Eilish to sleep. As I cradled her, the song ‘Swing Low, Sweet Chariot’ came on, and the verse which got me went like this:
‘If you get to heaven before I do,
Comin' for to carry me home,
Tell all my friends I'm comin' there too,
Comin' for to carry me home.’
“The realisation that my beautiful baby girl was indeed going to get to heaven before me hit me, and I finally let it all go – I looked in her eyes with tears streaming down my cheeks.”
The family were given the confirmed diagnosis of Krabbe disease the day before Good Friday.
Krabbe disease (also known as globoid cell leukodystrophy) is a rare inherited neurological condition, occuring once in approximately every 125,000 births.
Our central nervous system contains nerve cells, which carry messages back and forth between our brain and the rest of our body. The cells are protected by sleeves of fatty tissue called myelin sheaths, which require an enzyme called galactoscerebrosidase. Without these protective myelin sheaths, the cells in the brain die, and the nerves in the brain and other parts of the body don’t function properly.
Sadly, Eilish had no galactoscerebrosidase. She lost her sight, began having seizures and could no longer make voluntary movements.
“The summer of 2014 was a warm and sunny one,”, says Colin. “We spent lots of time outdoors with the boys playing. We had a little beach tent so that Eilish could lie and enjoy the warmth.
“We managed a brief family holiday together with our parents, but towards the end, Eilish contracted pneumonia and was admitted to Rachel House Children’s Hospice. Against all the odds she rallied, and we got her home for a weekend.
“Eilish was readmitted to the hospice on Monday 8 September, and died peacefully in Kirsten’s arms and with me holding her hand on 9 September.”
The power of research
“Krabbe is a genetic disorder. Unbeknownst to Kirsten and I at the time, we both carry an abnormal gene. If two parents have the abnormal gene, there’s a one in four chance of a child having Krabbe disease. We had the boys’ blood tested and were very relieved to hear that they had normal levels of galactocerebrosidase.
“Kirsten and I wanted to have another baby, but we decided that we weren’t prepared to roll the dice with a one in four chance, so we decided to try to conceive using IVF with pre-genetic diagnosis. In September 2016, we were blessed with another daughter, Lara. She doesn’t have Krabbe disease, and nor is she a carrier. She’s testament to the power of medical research.”
After Lara’s birth, Colin became involved with the charity Krabbe UK and went on to become a trustee. Through this work, he was introduced to Sparks, around the time of the charity’s National Research Call to invite research projects.
Colin and his family were delighted when a Krabbe disease research project was selected among the high-quality child health research projects. Jointly funded by Sparks and Krabbe UK, Dr Sara Benedetti of University College London is focusing on unravelling the potential of a new stem cell treatment for Krabbe disease.
“She never saw a candle…”
“Eilish would have turned five years old last November,” says Colin. “She was nine-and-a-half-months old when she died: she never saw a candle on her birthday cake."
“Child health research is extremely underfunded, and this means progress to find treatments is slow. However, with your help, we can reach the first effective treatment for Krabbe faster. Together, let’s help Sparks reach £10 million over the next four years. Critically ill children need us now.”
One in three children with a rare condition won’t live to celebrate their fifth birthday. With your help, we can fund research into life-changing treatments that will help children in the UK like Eilish who have rare and complex conditions. Donate now.
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