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A family has been torn apart by a rare genetic condition that has already killed the mother, left some of her children in danger and they fear for their grandchildren. The desperate search to find a cure is one of the engines to get ahead.
For: Clarion
Life changed forever for Jonathan Williamson, 70, UK, when his wife Sue was given six months to live after complaining of back pain. Yes, an apparent and simple pain became the beginning of a painful condition marked by aggressive tumors.
Devastating diagnosis
The woman who began with back pain in 1993 was diagnosed with pheochromocytoma, a rare tumor of the adrenal glands above the kidneys, which had metastases throughout her body. It was a terrible cancer.
Still, radioisotope treatment allowed Sue, a mother of four, to live for a decade after diagnosis. But as in these cases, her body and her general health deteriorated until she did finally pass away at age 57 in 2003.
The family was destroyed. But the wound would go deeper still, when they were dealt another blow later by discovering that Sue’s condition had been caused by a faulty gene that could affect her children, reports Metro.
Faulty gene and search for a cure
Tests showed that two of the couple’s four children were clean, but the 41-year-old twins, charity worker Jennie and firefighter James, had inherited the gene. And the worst news was present: the tumors had already spread throughout their bodies.
Jonathan, a charity worker from Dundee, Scotland who created The Phaeo and Para Cancer Charity in 2018 in an attempt to find a cure, said: “In 1993 my life changed forever. Little did Jennie and James know that their lives had also changed forever.”
Jonathan and Sue were devoted parents to the twins and their two oldest children, Katie Kay, 45, an elementary school teacher, and Jonathan, 43, another firefighter. “But our whole family felt the ripple effect. This gene, this cancer, has devastated us, ”she assured, thinking of all the members of her family.
Not long after, Sue had surgery to remove a tumor on her adrenal gland, but she lived a “completely normal” life afterwards, says the love of her life. It was a total of more than 20 years after her routine appointment for back pain.
Pheochromocytoma is an unpredictable condition that often occurs in sudden attacks and, if left untreated, can cause serious problems such as irregular heartbeat, heart attacks, strokes and organ failure, according to the National Health Service (NHS), although only one in 10 tumors is malignant.
Medical treatment, hope and future
When Sue was first diagnosed, she was given only six months to live. But a glimmer of hope was lit when specialists said the then 47-year-old woman was selected for radioisotope therapy, an injection of radioactive liquid, which she would need twice a year and would extend her life by destroying cancer cells.
The treatment was successful and the woman at least got a respite which left the family “feeling pretty good”. But the toxic radiation eventually caught up with her, weakening her system until she sadly passed away years later.
Jonathan was grateful for the grace time the treatment gave him. “Her toxicity of him took its toll. If he hadn’t been as strong a person as he was, he wouldn’t have lasted as long. But we lived a good 10 more years together than we thought.”
Further investigation back in 2010 led to Jonathan being told that Sue’s cancer was caused by a faulty SDHD gene (meaning there was a 50% chance it could be hereditary), and the family discovered that the twins they were affected.
Both Jennie and James were told that they had tumors around their necks and that they could not be operated on due to their proximity to nerves and arteries.
Jennie’s tumor was the size of a golf ball, while James’s was shaped like a sausage. In addition, James’ picture also added five benign tumors in the stomach that, fortunately, were removed, according to the British media.
children in danger
Jennie lives in Edinburgh with her children and her husband Ainslie Chinembiri. “Because of our experience of seeing our mother living a mostly normal life, I felt a bit of relief knowing that I would be able to find the tumors early with the scans,” she said.
She then underwent six weeks of radiotherapy, although further investigation found 28 cancerous tumors that had spread to her bones, as her mother had.
As she was undergoing grueling hormone treatment to reduce her masses, Jennie warned, “My diagnosis was devastating, especially for the children. However, my family was very supportive. Dad comes to all the medical appointments with me.”
“We are a very close family and my dad is an inspiration. I feel very lucky to have him on my side, ”he added, still fearing for the future of his children.
Beyond raising money for how expensive each therapy is, the family hopes that tests of the tumors removed from James may provide a key to a cure.
James is divorced and today a Dundee neighbor with his partner, a 38-year-old primary school teacher Karen Dewar. “The investigation that is being carried out is excellent and fills me with hope. We are looking for a cure, there is hope. I am glad that my tumors can be used for something good, ”he reflected in the midst of the traumatic situation.
“We have this defective gene and we are in this situation. But we try to take positive steps to find a cure or medicine that can help,” he stated. And he expanded: “I’m pretty lucky. Although I inherited the gene from mom, I inherited positivity from dad. I have a lot of debt, but it doesn’t affect my life and I don’t have any pain.”
The family that Jonathan Williamson created with Sue was marked by a terminal illness, but also by love and a constant struggle to get ahead. And it is not little.