Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.

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When Jake was just eight months old he crawled off the blanket where his mother, Tanja, had put him and began rubbing his forehead on the carpet. He continued to rub his forehead even when it became raw and bloody. This was when Tanja first suspected something was wrong with her son. The self-injuring behaviour worsened so severely that by the age of seven years Jake went to live in a specially designed care home: he was self-injuring thousands of times a day.

Although Jake had been diagnosed with Autism at the age of eighteen months, his parents questioned the diagnosis - they didn’t see that type of behaviour in other autistic children. So they continued to search for answers. Their diagnostic odyssey would last over sixteen years, until clinician-researchers at TIDE-BC, determined that Jake has an extremely rare PAK3 genetic mutation.


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When Nolin was just three years old he became the first person in the world to be diagnosed with NANS deficiency, a genetic disorder that causes severe neonatal epilepsy, bone abnormalities, and developmental arrest. The problem lies in the body’s inability to make enough sialic acid, a sugar which provides building blocks for many processes in the body.

The diagnosis, made by the clinician-researchers at TIDE-BC, had a profound effect not only on Nolin’s access to care but also in providing support for his parents, Darlene and Frank.

NANS deficiency is a truly devastating condition. Nolin is missing a critical enzyme that affects the development of many of the body’s tissues and cells. As a result, he cannot hold up his head, sit, stand, eat orally, talk or see very well. He needs 24 hours of care, a feeding tube, is prone to airway infections and blood complications, in short, he is completely dependent on others.


Nolin is described along with 8 other individuals with NANS deficiency, a novel inborn error of metabolism, in a recent Nature Genetics article.



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Logan is an 18-year old who loves to play hockey, swim with dolphins and take the occasional spin around Orlando Speedway. As part of his recent graduation events he participated in a seven day hiking trip in the Rocky Mountains, in a trail rider with his classmates and father close by. The fact that Logan has neurodegenerative disease which severely restricts his independent mobility does not stop him. As his father, Rick, says, “We just adapt and find a way to make it happen.”

Logan Miller has an ultra-rare disease – the cause of which has, for the past 14 years, remained undiagnosed. Now researchers believe they may be close to a diagnosis. In fact, the decision to enroll Logan into the genomics study has brought the Miller family the closest they’ve been to understanding their son’s disease since it first became apparent he was not developing at the same pace as his peers. He went on to suffer memory loss, muscle weakness and eye movement problems.

“We enrolled him because Logan has always wanted a diagnosis, and we want to know, not least because his illness is progressive,” said Debbie Miller, Logan’s mother. “This study seemed a good fit.”


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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.

READ AYZAC'S FULL STORY HERE…


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Eight-year old Luke belongs to a very select group of children. Diagnosed at the age of 5 with alpha-mannosidosis—possibly one of the rarest genetic diseases in the world— he received the only available treatment just five months later. The decision to have their child undergo an invasive and risky bone marrow transplant (BMT), without hard scientific evidence for success in alpha-mannosidosis, was one of the toughest decisions Robin and Kevin Chaplin have ever made. But it turned out to be a great one because today, 2.5 years after his BMT, Luke, followed by the TIDE team on a regular basis, continues to improve intellectually and physically.
Alpha-mannosidosis is an extremely rare, inherited lysosomal storage disorder, characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It affects approximately 1 in 500,000 children. Finding information on the disease is a daunting task for parents, as Robin and Kevin Chaplin can testify. But having the diagnosis established in Luke proved equally challenging, precisely because it is such a rare disease.

READ LUKE'S FULL STORY HERE

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Mason was just 2 months old when he was put on anti-seizure medication. It quickly became evident that he was unresponsive to the medication and only responded to the vitamin B-6 (pyridoxine) and folinic acid therapy. However, once diagnosed with pyridoxine dependent epilepsy (PDE), a metabolic form of epilepsy, Mason began treatment which changed the course of both his life and his mother’s. Without realizing it, Mason has helped lead the way for other children suffering from the same inborn error of metabolism. His treatment -a lysine restricted diet- is a medical therapy pioneered though TIDE-BC. Mason was among the first patients with PDE worldwide to be successfully treated by by this medical diet in conjunction with vitamin B6, a therapy which has been developed and studied by the TIDE-BC team in collaboration with German neurologists.

READ MASON'S FULL STORY HERE

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TIDE-BC is demonstrating an impact for families. Five-year old Nathan’s life has improved immensely, as has his family’s. At the age of three, suffering from developmental delay, autism and seizures but undiagnosed despite having seen 15 specialists, TIDE-BC first tier testing revealed creatine in Nathan’s urine. He was referred to TIDE-BC at BCCH where he was diagnosed with Creatine Transporter Deficiency, one of the rare yet treatable disorders causing intellectual disability for which the TIDE program promotes active screening.

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