Malachi Needs Your Help To Get To Boston For A Cure!

Malachi's records were sent to the Boston Children's Genetics team, and they reviewed his results and want to see him in person in November of this year!

Raising funds to get Malachi to Boston Children's Genetics for more in depth testing and research on any chance of life saving NARS1 treatments or possible cure.

No amount is too small, if enough people donated the price of a coffee, we'd could get Malachi to the experts and possibly change his life's outcome!

NARS1, short for asparagine-tRNA synthetase, is a rare genetic disorder that can disrupt the body’s ability to produce proteins. When this gene is not functioning well, our body has trouble making proteins. And so it can cause a spectrum of different disorders.

About Malachi (Kai)

Malachi has always had a love for animals especially sloths and Giraffes (he says he has Giraffe powers due to how his skin looks). His favorite color is green. He has the most beautiful blue eyes and the most loving kid! He loves sports and used to play football but is now only playing soccer and baseball as he gets worn out easy. He gives his all and still wants to play everything, He loves riding bikes, fishing and swimming.

Background

My little Kai will be turning 8 in October of this year. Very early on, we noticed that Malachi had unique skin that kept changing and this led to our first of many specialist and tests, leading to a NARS1 diagnosis.

He started seeing Genetics at Texas Children's when he was 2 and they started genetic testing. The first test revealed he has Pigmentary Mosaicism. Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. Only 7% exhibited a combination of hyperpigmentation and hypopigmentation. (which Malachi has) Pigmentary mosaicism can present with a variety of symptoms, including:

As the years go on, Malachi's doctor suspected developmental delays and was put on the wait list to the Myers Center with Texas Children's. While on the wait list his genetics doctor was concerned by the "mix or patterns" on him as well as his hyperactivity and global developmental delay level and ordered more genetic testing. He now has had the KITLG, Chromosomal Microarray (CMA), Whole Exome Sequencing (WES). The CMA test revealed a deletion in the 18p chromosome, and the WES test detected the NARS1. The doctor ordered a more detailed genetic test to look more into the NARS1. They did RNA sequencing and a tES revealed a de novo heterozygous frameshift stop-gain variant in the exon. On May 5th 2025, genetic testing confirmed Malachi as having a very rare genetic disorder called NARS1 disease. LIFE EXPECTANCY OF PEOPLE WITH NARS1 VARIES; DATA RECEIVED SO FAR SHOWS THAT AFFECTED INDIVIDUALS USUALLY SURVIVE INTO TEENAGE YEARS. However, there is no record of the exact type Kai has. Even with this diagnosis his genetics team and experts are not satisfied that this is the only thing kai has and it doesn't explain all of his symptoms / diagnosis (ADHD, Global Developmental Delay, Articulation Difficulty, Advanced bone growth, Short term memory loss, Dyslexia, Physical/inducible urticaria, Asthma, Pigmentary Mosaicism and NARS1. They are including him in papers and studies with hopes we might find someone else or at the least his data could help the children of the future.

Why Boston Children's?

Diseases like NARS1 are prime for consideration with gene replacement therapy and other approaches.

Rapid technological advances in genetics and genomics are allowing our researchers to find extremely subtle mutations affecting just small a fraction of the body’s cells; unusual, one-of-a-kind mutations; and mutations in the genome’s “dark matter” — genetic code that regulates the expression of other genes. Tools we use include:

Whole-genome and whole-exome sequencing

High-coverage sequencing

RNA sequencing

Single-cell DNA and RNA sequencing

Genome-wide association studies (GWAS)

Chromosomal microarray analysis

Genetic screening using CRISPR/Cas9 gene editing

Gene expression studies

Bioinformatics expertise, tissue banks, stem cell models, and animal models all contribute to a fast pace of discovery. We often collaborate with academic partners and with industry on clinical and preclinical investigations.

"We often collaborate with academic partners and with industry on clinical and preclinical investigations. These advances are helping us solve patients’ diagnostic mysteries, We often collaborate with academic partners and with industry on clinical and preclinical investigations. These advances are helping us solve patients’ diagnostic mysteries, understand disease biology and find new treatments — sometimes ones that wouldn’t otherwise be considered. Today, it’s truly possible to go from genetic discovery to clinical trial within a decade. Our team is investigating a variety of genetic therapies. Our many initiatives include sequencing the genomes of newborns; pharmacogenomics, using genetic to better choose medications; and in-depth studies on rare conditions in our Manton Center for Orphan Disease Research. We are also proud to be part of the National Institutes of Health's Undiagnosed Diseases Network as part of the Harvard Clinical Site."

All funds raised will be used to get us to Boston Childrens Hospital, this includes flight cost, hotel cost, medical bills and all other expenses that come with it. I will continue to share his life's journey.