Jack's story
My son Jack's brave struggle with a rare cholesterol condition
Told by Donna
''Years of intrusive medical treatments have had a devastating impact on my son, Jack, both physically and emotionally. He’s suffered more than you can ever imagine. Jack has a rare genetic condition that potentially causes fatal levels of cholesterol if not treated early enough.
The worst time was when they inserted needles into his fistula (connection used for his blood dialysis). This was done before he had a central venous catheter line because he needed urgent lifesaving treatment. I can still see his helpless, little face looking up at me, screaming, crying and pleading for it to stop. It broke my heart and made me ill.
My husband had been blue lighted to hospital a couple of times before a doctor referred him to a specialist. It turned out he had high cholesterol, due to a common hereditary condition called familial hypercholesterolaemia or FH for short.
As heart problems run in both our families, we all decided to get tested. It turned out that eight members of our family and four of our five children also have FH, caused by a faulty gene.
When the nurse called me to make an appointment to discuss my results, I explained I was waiting for an appointment for Jack as he had these fatty lumps on his elbows and backs of his knees which he was embarrassed about. She told me not to panic, but I should bring him in straight away.
At just 18 months old, Jack was diagnosed with familial hypercholesterolemia, but it wasn’t until he was almost five that he was diagnosed with homozygous familial hypercholesterolemia (HoFH) which affects 1 in every 250,000 in the UK.
My husband and I had unknowingly passed it on to him. Jack has inherited faulty genes from both parents, making his condition extremely rare and far more serious than heterozygous FH, which comes from one parent. If left untreated, it can be fatal, even in young children.
In a state of shock, the consultant gave me some information and we went home. Our lives were in turmoil. I cried all the time, consumed by fear for our little boy.
Jack is now nine. It’s taken this long for the dust to settle and for our family to come to terms with the reality of our situation. I try not to think about what the future holds for Jack and take each day as it comes.
He’s already had two operations: one to join a vein to an artery to make it wide enough for his treatments, known as a fistula. The other was to insert a large tube (central venous catheter) to treat his high cholesterol via a process called lipoprotein apheresis which filters out cholesterol from his blood.
Every week we travel to London for Jack’s apheresis (blood dialysis). It’s a 12-hour round trip and takes its toll on us. Jack is petrified of needles. You can’t blame him. The needle they use to filter his blood is as thick as the valve on a bicycle pump. Jack sees a psychiatrist who tries to help him cope with the trauma of his procedures.
Having a child with a rare disease feels very lonely even though we’ve become friendly with other parents at the hospital. That’s why we are so grateful to HEART UK. They’ve been there for us right from the start. It was their information leaflet that we were sent home with on the day he was diagnosed.
It’s HEART UK we rely on to answer all our questions. There is so much unreliable information out there and we are so grateful to be able to access trusted medical information about Jack’s condition. HEART UK is a vital part of the small support network we have, along with the fantastic doctors and nurses at the Evelina Children’s Hospital who treat Jack and the FH Team at Harefield Hospital.
Despite everything, Jack loves his football. He’s a die-hard Arsenal fan. A loud and proud ‘Gunner’ and goes to matches whenever we can manage it. He dreams of one day being an Arsenal player.
Now I’m on a mission to help HEART UK by raising funds and awareness. People don’t realise how deadly high cholesterol is and how important it is to get tested. There are no warning signs until it’s too late.''
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