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Here's what we're up against

Before September 5, 2021, if you had asked us what NKH was, we would have had no idea what this acronym stood for. We're continuing to learn more everyday, but here are the quick facts for anyone who wants to catch up.


What is NKH?

Non-Ketotic Hyperglycinemia, or NKH for short, is a rare genetic metabolic disorder that makes processing the amino acid glycine very difficult. Typically, a body breaks down gylcine naturally, but kids with NKH are not able to break down the amino acid as quickly as the body produces it and a build up occurs. There are also a variety of different types of NKH.

When you say NKH is rare - how rare are we talking?

1 child out of 76,000 born are diagnosed with NKH. Because of the high mortality rate with severe cases at birth and at the neonatal stage, there are currently only 500 children living with NKH in the world - something we want to change.

What are some of the symptoms of NKH?

Each child with NKH presents differently, but common symptoms include: issues with spasticity or balance, weakened muscles, different types of seizures and developmental delays.

The science for a cure is there - the funding is not.

How is NKH managed?

Jack is currently on medication that is administered every 6 hours to help his body manage his glycine levels. Jack also follows a keto diet to help minimize his seizures. He has a large team of doctors and nurses at Boston Children's Hospital and specific specialists in a variety of occupational and physical therapies. All of these folks, along with our friends and family, are the very core of Team Jack.

Is there a cure for NKH?

Currently there is no cure for NKH. Because of the rarity of the disease, NKH is considered an orphaned disease by pharmaceutical companies. This means there is no funding from these companies to actively search for a cure, nor release medication that could improve the condition of NKH, because it is not profitable. All research into a cure is self-funded.

How can you help?

Fundraising for research and, ultimately, a cure is dependent on private donations by the family and friends of those effected by NKH. Our family is proud of our relationship with the NKH Crusaders. This group is local to the Boston area and have helped welcome our family into the NKH community, but they are also one of the groups at the forefront of fundraising in the United States. Their funding primarily goes to two of the leading research teams at the University of Notre Dame & the University of Colorado. If you'd like to donate to the Crusaders, please visit their donation page here.

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