Maple Syrup Urine Disease

 

Welcome to My Site!

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My name is Haley Su Kohl. I was born on January 21, 2002, with a rare genetic disease called Maple Syrup Urine Disease (MSUD). After a very rough start on life, my family and friends decided to start up the MSUD Research Foundation with the purpose if helping me and others with rare genetic diseases.

The MSUD Research Foundation is a non-profit organization committed to promote the need for ongoing research of MSUD in an effort to ensure all families are afforded the technology, services, education and treatment available to enable early detection and successfully manage MSUD. Our 1st goal for the foundation was to raise the money necessary to purchase an Amino Acid Analyzer Machine.

Thanks to all those who have reached out to help us, including family, friends and strangers, we were able to achieve this goal in August of 2004. The Amino Acid Analyzer is up and running at St. Joseph's Hospital as of April 2005. We were very excited, to say the least! We are now able to receive the results of my blood tests in 2 hours instead of of the 5-10 days it used to take before this machine was made available.

 

Thanks to the support of friends, family and our sponsors, the 6th Annual MSUD Golf Tournament was a great success.  It is only through the help and support of family and friends that we are able to continue our annual golf tournaments.  We are looking forward to seeing everyone this year!

Register now for the 7th Annual MSUD Golf Tournament!

Find out the latest information on medical advances in gene therapy and liver transplant

See more of the exciting things our foundation is doing today!