Ayzac: the only patient alive with RMND1 Deficiency - how his diagnosis is changing lives

While it’s true that having a child will change your life in ways you cannot possibly imagine, for Krystal Shipley this saying was to have a very special meaning. Her now 3-year old son, Azyac, is thought to be the only person alive with a rare genetic condition called RMND1 deficiency, which causes a type of fatal mitochondrial disease.
Diagnosed by the physicians at BC Children’s TIDE-BC program when he was two years old – Ayzac is also helping move medical science forward. “He’s my hero,” Krystal said.
Ayzac first showed symptoms of his disease when he was just 2 months old. He suffered a seizure. After several rounds of blood tests and continued seizure-like episodes he was referred to BC Children’s Hospital (BCCH), where he declined very quickly. Shortly after he was admitted to ICU at BCCH, Krystal was told she probably had 10 minutes left with her youngest child. As a last ditch effort, one of the emergency room physician’s in ICU suggested putting Ayzac on life support, which was done. After two days Azyac was stable enough to be removed from life support. “I remember that so well, it was my birthday,” Krystal said.

Receiving a Diagnosis

Ayzac remained as an inpatient at BCCH, suffering from myriad health problems including lactic acidosis, hearing loss, high blood pressure and kidney trouble, for which he was on hemodialysis. After four months, in February 2011, the results of his muscle biopsy revealed mitochondrial disease, but they didn’t yet know what type. “The diagnosis was a big thing for us, but at the same time it was like being told our son has cancer but we don’t know what type he has,” Krystal said. “It was very unnerving, so we were still searching for answers.”
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“Canuck Place Children’s Hospice is somewhere you never want to be, but when you are there, you are so grateful, it’s very bittersweet. There is no better place, the support, the love, the warm feeling you get when you enter is amazing.”
Krystal

TIDE

The TIDE research team, in collaboration with Dr. Eric Shoubridge, mitochondrial expert at the Montreal Neurological Institute and Hospital, McGilll University, were able to identify the specific genetic mutations (out of tens of thousands gene variants), responsible for Ayzac’s disease. “TIDE and TIDEX made it happen, and they were supported by the Vancouver-based non-profit women’s group mCentred” Krystal said.
“The doctor treating Ayzac, Clara van Karnebeek, asked if we wanted to take part in the TIDEX study. I agreed immediately – knowledge is power”
Krystal
Through TIDE, Krystal learned about the RMND1 gene, its role in Ayzac’s illness, and other potential cases. “It’s closure to know about this,” she said. “The more I learn about the illness my son has, the more I feel like I have some control. It’s terrifying living in uncertainty. To see their illness slowly progress and not know why that is happening is terrifying. To get a diagnosis is huge.” While there is no treatment for Ayzac, the diagnosis has enabled Krystal and the physicians to medically manage Ayzac.
“The amount of things I‘ve learned— from giving him injections and medicines to checking his vital signs, to tube feeding him, reinserting tubes and monitoring for seizures—it’s very involved care,” Krystal said.
Thankfully, she has large support network, which includes her tireless mother and grandmother, as well as the TIDE team and the physicians, nurses, dieticians in nephrology, biochemical disesases, other services as well as ward 3F. “People at BC Children’s are our second home and our second family. All of the physicians at BC Children’s Hospital, all of the nurses on Ayzac’s ward, they are amazing.”

Mom of the year

Ayzac’s journey has touched his mother in ways no one could have predicted. Currently, Krystal is enrolled in nursing school, and is working towards her degree. “I would never have considered nursing without Ayzac. Seeing so many children with rare diseases has made me want to work with children like him,” she said. She is also doing interviews to raise awareness of rare diseases like RMND1 mitochondrial disease—this, in addition to looking after Ayzac’s brother and sister, who are both under 10. Krystal has learned sign language to communicate with Ayzac, who is deaf, and has taught his brother and sister to do the same. Her boundless energy and sense of humour elevate all who come into contact with her. And this was evidenced when in the summer of 2013, Krystal Shipley was nominated for Wal-Mart Mom of the Year by her mother. Krystal won a place as a finalist, and was awarded a $10,000 donation to Canuck Place Children’s Hospice, where Ayzac is currently receiving palliative care.

Patient Stories

We see many patients and each and everyone has an unique story...

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and what TIDE means from a patient point of view

Funding

TIDE-BC is the first Collaborative Area of Innovation funded through the BC Children's Hospital Foundation, Vancouver, Canada. To expand the project (inter-)nationally funding application is ongoing.

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Contact Information

TIDE BC / Biochemical Diseases Clinic
BC Children's Hospital
Rm K3-208, ACB
4480 Oak Street
Vancouver, B.C. V6H 3V4

Phone: 604-875-2628 (administrative)
Phone: 604-875-2880 (clinic)
FAX: 604-875-2349