Help Laken's Family Navigate This Rare Disorder

My name is Amber and I am auntie to my sweet niece, Laken. My sister and brother in law (Morgan and Kade) are facing something no parent should ever have to face as they navigate through this hard time in their life. Laken has been diagnosed with a very rare autosomal recessive neurodegenerative metabolic disorder called “3-hydroxyisobutry-CoA hydrolase deficiency or HIBCH deficiency.” It’s caused by mutations in the HIBCH gene, leading to a build up of toxic valine metabolites that harms her brain function and development. As of June 2024, there has only been 28 cases that have been reported in worldwide studies, therefore there is no cure, no 100% verified treatment, quality of life is unknown, and life expectancy is unknown.

Laken’s life started out very normal. Starting around 6 months of age, Morgan KNEW something was off with Laken when she wasn’t reaching her milestones. She brought up her concerns to Laken’s pediatrician numerous times throughout the ages of 6 months to 12 months old; however, the pediatrician kept stating that “all babies develop at a different pace.” The concerns my sister had with Laken at 12 months old were, abnormal movements with her body, abnormal movements with her eyes, she is still not crawling, she is not saying any words, she is not walking or pulling herself up.

After her 12 month appointment on December 27th, 2024 and still hearing “all babies develop at a different pace,” my sister trusted her gut instincts and changed pediatricians immediately. A week later, Laken saw her new pediatrician and he knew right away he wanted an MRI of her brain and for Laken to see a neurologist and ophthalmologist.

Laken had the MRI done (January 3rd, 2025). As my sister's gut feeling was right, the MRI showed two symmetrical abnormal lesions in the basal ganglia. Her new pediatrician was so amazing and read the scan on his day off. He called my sister and advised them to head to Children’s Hospital in Milwaukee immediately.

When they got there, Laken was seen by a neurologist and geneticist. They monitored Laken on an EEG for any seizure activity for two days.

They explained the high suspicion of Laken having an inborn error of metabolism genetic disorder but could not give us an exact diagnosis at that time. Blood DNA was retrieved from Laken to send out for metabolic and EXOME genetic testing which take about 4-6 weeks.

On Thursday February 6th, 2025 Morgan and Kade received a call from Laken’s genetic team in Milwaukee with her diagnosis.

With this diagnosis being neurodegenerative, meaning this may get worse over time, there is also a greater chance of her rapidly declining if she gets sick. So she will need to be placed on IV fluids during each illness. Laken will now be seeing a cardiologist, dietitian, and audiologist with lifetime routine visits, along with her ophthalmologist, neurologist, and geneticist in Milwaukee to monitor everything. While there’s no known effective treatment for HIBCH deficiency, a low valine diet is currently the best option to try and limit any more harm to her brain. Also, seeing a second neurologist and more frequent MRIs are also in Laken’s future to watch the abnormal areas on her brain and that will be taking place at Mayo Hospital in Minnesota.

When Laken and Morgan are not at those appointments, they will be spending a lot of time at physical therapy, occupational therapy, speech therapy and swimming classes to help Laken’s development for the rest of her life. Due to the unknown, we do not know her life expectancy nor if she will ever be able to crawl, walk, talk or continue to sit up on her own, see, hear or swallow.

As of now, Morgan and Kade have unfortunately had to take time off from work to provide care for Laken... including making multiple trips in the last 6 weeks to Children's Hospital. As much as I know Morgan and Kade, receiving money is the last thing they want. As a sister, and godmother to Laken, I don't want to see them financially struggle because of this life changing diagnoses. If there is one thing Morgan and Kade want to pass on to others, it would be to trust your gut and be the best advocate for yourself and for your loved ones.