Spring 2022 - Virtual NKH Conference Resources

Dr. Oya Kuseyri Huebschmann - iNTD Registry

Major aims of the study:

  1. To describe the natural history and outcome of the six neurotransmitter disorders, five BH4 deficiencies and two cerebral folate deficiencies
    1. Long-term organ-specific complications
    2. Survival rate
    3. Genotype/phenotype correlation
    4. Differences in the disease course relating to the genetic background / ethnic origin/ gender effects
  2. To describe and evaluate the efficacy and safety of current treatment strategies
  3. To compare the diagnosis, treatment and management of affected individuals in different European countries.
  4. To identify the major impact of a rare inherited disease for patients and their families regarding the quality of life, school education, professional career and social life

Mild-Moderate NKH Study by
Dr. Liesbet Van Hirtum

We would like to invite you to participate in the research project on NKH, performed by Dr. Liesbet Van Hirtum at the KU Leuven! 

This international research project focuses on describing the development and behavior of children and adolescents (6 – 17 years) with a mild to moderate form of NKH. 

We hope that this will enable future more focused research on new approaches and treatments of problems in this area. 

What does participation mean? 

This study consists of completing 8 questionnaires. Going through the information and all the questionnaires will take approximately 1 hour and 30 minutes. 

Am I eligible to participate? 

  • If you are the parent or guardian of a child between 6 and 17 years old with mild to moderate NKH (non-ketotic hyperglycemia)? 
  • Then you are eligible to participate in the study! 
  • One parent may participate per child/adolescent. 

Preferred mode of communication is email due to time zone differences. Please mention any speciality diets (ie. Ketogenic diet) or supplements your child may be taking.

When you click on the link below, you will be asked some questions. Based on your answers, we will verify if you are eligible for the study! 

Email Addresses for All Speakers

In order of presentaion

Write a Letter to Your Governor or State Representative

Use the templates below to help you write a letter to your governor or state representative urging them to declare May 2 as NKH Awareness Day for your state. The more states that recognize NKH Awareness Day, the better chance we have of the Federal Government recognizing May 2 as National NKH Awareness Day.

You can email or print and mail your letter to your local government by finding the appropriate recipient on their website.

Microsoft Word Template: Download and use the formatted template to write your own letter, print and mail or save as a PDF and email. Alternatively you can write your letter, then copy and paste into your email body and send it directly to your governor or state representative.

Google Doc Template: Copy and paste the formatted letter into a NEW Google Doc on your personal account. Print and mail or save as a PDF and attach to an email to your state representative/governor. You can also share the google doc link (this may pose security issues).

Canva Template: If you do not have access to Word or Google Docs, Canva is a free online software that requires a login (free), and allows you to save as a PDF. Alternatively you can use the template to write your letter, then just copy and paste it into the body of an email.

Sample Letter: If you do not have a computer, and would like to use a mobile device to send an email to your governor or state representative, use this to copy and paste the template into a note taking app to write your letter. Then paste into the body of your email.

Join Rare New England Caregiver Support Group 2nd Tuesday of every month at 7 PM EST

Click the link below to sign up to receive updates and the link for the Zoom meeting.

NKH Awareness in The News

Read about NKH Crusader Founder, Kristin Archibald and her interview with Global Genes.