In 2018, Ethan Lambert was born. His parents, Kassondra and William, were thrilled with the new addition to their family. For the first year, Ethan seemed to be developing fairly normally; his parents had no concerns. But when Ethan began missing developmental milestones, Kassondra and William began getting nervous. Although no parent is ever truly prepared for everything involved with raising a child, the Lamberts felt that they would at least understand the baseline of milestones. According to All About Ann Arbor, the Lamberts took Ethan to the doctor to discuss these concerns. After numerous tests, including genetic testing, the Lambert family finally got an answer: KIF1A-associated neurological disorder (KAND).
Ethan’s Story and Fundraising Efforts
In many cases, the KIF1A gene mutations associated with KAND are passed down in either an autosomal dominant or autosomal recessive pattern. This means that children must inherit one mutated gene, or both mutated genes, to have this condition. However, neither Kassondra nor William have KIF1A mutations, meaning Ethan’s mutation occurred spontaneously. His parents explain that he is only one of three people in Michigan, and fewer than 500 people worldwide, with KAND.
Currently, the Lamberts are raising funds for a wheelchair-accessible van to assist in managing Ethan’s care. Ethan uses mobility aids such as a walker, leg braces, and strollers. However, his parents are searching for something that will make getting him to and from appointments easier. Altogether, the Lamberts are looking to fundraise $66K. As of this article, the family has raised $37,635. If you’d like to donate, you may do so here.
Outside of fundraising efforts, Kassandra is also raising awareness via social media and her new business, The Striped Stable. Through these means, she hopes to not only raise awareness of KAND, but to help other families navigate life with a rare disease or medically complex child, the financial burden of rare disease, and the isolation that sometimes comes along with these diagnoses.
About KIF1A-Associated Neurological Disorder (KAND)
KIFA associated neurological disorder (KAND) is a rare, severe, and progessive neurological disorder. According to KIF1A.ORG, KAND typically occurs following gain-of-function mutations in KIF1A. Until recently, there has been little information known regarding this condition. While researchers are working to build a better understanding of KAND, there are still no treatments or cures. It is also an incredibly variable disorder, meaning it can affect individuals in vastly different ways. Potential symptoms and characteristics include:
- Developmental and intellectual delays
- Tremor
- Exaggerated reflexes
- Impaired balance and coordination
- Low muscle tone (hypotonia)
- Drooping eyelids
- Crossed eyes
- Involuntary eye movements
- Optic nerve atrophy
- Absent language
- Peripheral neuropathy
- Facial diplegia
- Spastic paraplegia
- Seizures
