'It is a never-ending cycle of grief': Heartbroken mom shares struggles of 4-year-old fighting rare neurological disorder

Amber Segaar's life changed forever the moment she noticed something wasn't quite right with her son, Hendrik. "Everything was normal, everything was good ... until it wasn't," Segaar shares with Yahoo Canada. Segaar noticed a delay in her son's gross motor skills when he was 8 months old. Unlike the other babies, Hendrik wasn't bringing his toes up to his face. Although doctors weren't worried and told Segaar to wait and see how he progressed, she took Hendrik to a physiotherapist who validated her concerns.

"They would always ask me about Hendrik’s birth and I could sense their alarm," the Langley, B.C. mom-of-two says. "They probably suspected cerebral palsy but were puzzled because his birth was so easy and trauma-free. They concluded he just needed to build his muscles, so I continued physio for quite a while."

When Hendrik was 18 months old and still missing milestones, Segaar insisted on seeing a pediatrician who ordered blood work. Although nothing was showing on his tests, Hendrik was still unable to walk ahead of his second birthday.

"He could crawl and pull up to stand, but there was never any balance, he was very wobbly, and his ankles were severely pronated," Segaar says.

Segaar pushed for answers and was referred to a geneticist at BC Children's Hospital in Vancouver. One week after his second birthday, Hendrik was diagnosed with with KAND disorder, a rare neurodegenerative disorder caused by a mutation in the KIF1A gene.

"I remember that weekend vividly," she recalls. "We were not OK."

What is KAND Disorder?

KIF1A Associated Neurological Disorder (KAND) is a severe condition affecting the entire body, explains Angie Fuller, executive director of the KIF1A Foundation in Boston. "The gene that is mutated causes problems with nerve function leading to symptoms like seizure disorders, intellectual disabilities, and brain shrinkage over time." Each child with KIF1A mutation presents differently, with some experiencing vision problems and mobility issues, often resulting in wheelchair dependency.

Patients are often under-diagnosed due to the inaccessibility of genetic testing. KAND symptoms also tend to overlap with other neurological disorders such as cerebral palsy, Rett syndrome and ALS. "Until the patient gets a proper genetic testing, they don't understand that what they think is cerebral palsy might be a KIF1A gene mutation," Fuller explains.

The neurodegenerative nature of KAND means symptoms worsen over time, although the progression rate varies widely. Fuller notes, "We've just begun tracking our patients' symptoms in the past five years, but it will take many more years to accurately predict and understand this degeneration."

Fuller also explains that there is no minimum age when children exhibit worrisome symptoms that could potentially lead to a KAND diagnosis. "Typical symptoms would look like weak muscle tone or weak muscle strength or babies not hitting their age milestones, difficulty with rolling, crawling, holding their head up," she explains.

The journey through diagnosis and beyond

When Hendrik was 20 months old, Segaar wanted to expand her family. However, the geneticist she was consulting at that time advised against it due to Hendrik's undiagnosed condition. Fate intervened, and Segaar discovered she was pregnant, which accelerated Hendrik’s diagnostic process. "I had a second baby that was at risk for this," Segaar says.

Soon, additional tests and whole exome sequencing in the United States were ordered. "The doctors didn't think we would be approved, but the fact that I was pregnant moved the process forward," explains Segaar. Hendrik's blood was sent off in June; a month later Segaar and her husband Derek received the KAND diagnosis.

"I remember sitting there watching myself crumble on the video call. I was hoping for some other diagnosis, anything other than this," Segaar recalls.

Receiving the diagnosis was emotionally devastating for Segaar, knowing her son would live with a rare and poorly understood disorder.

"We were just told to go back to our pediatrician and get all the referrals for neurology, but there wasn't much guidance because there's not much knowledge...I just wish there was more support," she says. "Maybe if they had a grief counsellor or family counselling, not just for the diagnosis but to continue because it is a never-ending cycle of grief.

The cost of KAND

One of the most challenging aspects of post-diagnosis is the misconception about life expectancy. "We do not have life expectancy information. There are articles online suggesting a five-year life expectancy, but this is not accurate. Some known cases are living into their late adulthood years even 60 plus years old," Fuller clarifies. “There are over a hundred different mutations within the KIF1A gene presenting with a variety of symptoms and severity in the patients. Some of the mutations are lethal at a very young age — there are a couple of those that do have a short lifespan associated with them. However, the majority of the symptoms are more moderate or even mild."

The financial burden is also immense, with expensive tests and treatments. "Finances are extremely tough for our organization and individual families. Genetic testing is often accessible only to those who can afford it," Fuller says. The cost of therapies, treatments, and adaptive equipment like wheelchairs further strains families. "One parent often needs to stop working to care for a special needs child, resulting in reduced income and greater expenses."

An ongoing battle

Hendrik, now four years old, continues to fight his battles. "He has pretty severe spasticity, and we're on a two-year wait list to see the neuromuscular clinic. It's so frustrating," Segaar says.

Despite the challenges, Segaar continues to fight for Hendrik's well-being. "He's on muscle relaxant Baclofen, which he takes three times a day, and we consult an orthopedic surgeon. We might do Botox casting to decrease the spasticity and keep his feet and ankles stretched," shares Segaar.

Segaar's hopes to take Hendrik to Boston Children's Hospital to participate in KAND research. A GoFundMe has been established to help with their journey. “The funding is to help us get to Boston and help the researchers study KAND disorder and hopefully, one day, find a cure," Segaar says. "Even if it doesn’t happen in Hendrik’s lifetime, we will keep fighting for future generations. Clinical trials are going on right now, which is amazing. We want to help drive that forward. This condition has already robbed Hendrik of so much, and we want to do as much as possible."

Hendrik will begin preschool in September. Although most children begin school at three, the family was unable to secure funding for one-on-one help for Hendrik.

"It was very difficult to find a preschool with a playground that was suitable for him.” Segaar also says that daycare wasn’t an option for him as he needs personalized care and “daycares don’t offer that.”

“Hendrik has a very beautiful soul, and he lights up every room he is in. Watching him bond with he doctors and the therapists is a true gift,” Segaar concludes.

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