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COVER STORY: MEET SUMMER AND HER STORY OF PERSEVERANCE AND PROGRESS
Meet Summer and her story of perseverance and progress
Summer Harris, the youngest child of Gold Coast couple Jeanette and David Harris, was born on May 11, 2021. Nearly two years later she was diagnosed with KIF1A Associated Neurological Disorder (KAND). A rare and severe neuro degenerative condition.
“For us, it was the worst news a parent could hear. I will never forget that day, when everything changed,” Jeanette Harris told Kymberly Martin. “We still have sad days, but we love Summer so much and cherish every day she is with us.”
There are only around 550 known cases of KAND worldwide, with 18 in Australia, although incidence is slowly increasing. A genetic disorder, it is caused by mutations in the KIFIA gene.
According to Harris, KAND is often misdiagnosed as cerebral palsy, Rhett syndrome and Charcot-MarieTooth disorder.
In some people, KIF1A variants are inherited from both parents. In Summers case, it was a de novo mutation, meaning her parents did not carry the gene.
KAND symptoms are: Intellectual disability; seizures; muscle weakness (hypotonia); poor motor skills (ataxia); vision loss (optic atrophy); hearing loss; speech difficulties (dysarthria); spasticity; dystonia and cerebellar atrophy.
It is a progressive disorder, and symptoms worsen over time. Life expectancy varies, but most individuals require lifelong care.
Harris said initially there were no issues with feeding Summer, but some evidence of delays in milestones around 10 months, “although I didn’t think too much of it”, she said. “But, I started to wonder why she wasn’t crawling or sitting up on her own.”
Summer was also diagnosed with an underdeveloped optic nerve, that causes vision loss and reduced colour vision.
“Her vision has improved over time, and she can see relatively well, although she is not great with depth perception. She is learning sign language to communicate and puts her arms in the air to be picked up, waving for hello and goodbye and a loud yell if she is not happy!”
Like most KIF1A kids she suffers from gastrointestinal issues and eczema and is on a predominantly organic and gluten-free/Paleo diet and daily supplements to help enhance cognitive function and minimise gastrointestinal issues. She does struggle with sleep and has magnesium and melatonin to help her relax but is not on any pharmaceutical medications.
Summer attends kindergarten four days a week which has been very supportive, organising an extra teacher to assist on the days she attends. “Summer is a happy little girl, and like most three-year-olds loves music, food and dancing although she gets frustrated as she is unable to run and jump with her friends, but always has a smile.”
The NDIS covers most of her therapies and orthotics to help with walking and low muscle tone, and a special highchair and walker.
Science and genetic testing are improving as technology advances and knowing her diagnosis has helped prepare for what ‘could be’ and what to look out for, such as seizures, she said.
“By connecting to other families of children with KAND has given us more insight and support, sharing their experiences has created a framework of what I should look out for and may see in the future. I use a Facebook group that connects families worldwide, KIF1A.ORG.”
Harris has started an Instagram account for Summer, to record her progress and share what has assisted Summer with other families who may benefit if they are going through a similar experience.
Her Instagram is: https://www.instagram.com/summers.sunshine2021/
Harris and her husband David have also started a not-for-profit, the KIF1A Australian Foundation: https://kif1a.au/
According to Harris, the foundation’s mission is to “fight loudly for impacted children by advancing research on KIF1A-related neurological disorders, providing support to impacted families, and raising awareness about these rare diseases”. Also, accelerate research, improve diagnosis, stabilise children’s current condition, and enhance the quality of life for children impacted by KIF1A. “Its vision is to make sure the world knows KIF1A related disorders are well-understood, effectively treated, and where children living with these conditions can survive and thrive.”
The journey of Summer with her physiotherapist
Summer was first referred to Naomi Stevenson, senior physiotherapist for paediatrics and young adults at UC Physio, Upper Coomera, Queensland, when she was 11months old, due to concerns about her low muscle tone, delayed motor skills, and visual challenges. At the time she was struggling with rolling, sitting independently, unable to creep, crawl, or bear weight through her legs to stand. These early signs pointed towards a potential developmental issue, later formally diagnosed as Global Developmental Delay (GDD).
Low muscle tone, or hypotonia, describes muscles that are unusually floppy. While it is often accompanied by muscle weakness, the two are distinct. Hypotonia is one of the most common conditions affecting infants' motor skills, so while it was a concern, it wasn’t uncommon for Stevenson to encounter this presentation. “However, the exact cause of Summer’s symptoms remained unclear.
Since hypotonia can be a symptom of a larger, underlying condition, she was seen by medical specialists, including paediatricians and geneticists,” Stevenson told Link . “Early childhood intervention, such as physiotherapy and occupational therapy, can significantly improve motor skills over time, and Summer began to make steady progress with weekly physiotherapy sessions.”
