Mucolipidosis IV Foundation

Welcome to the Mucolipidosis IV Foundation website at ml4.org. We hope you find our web design easy to use and the information helpful.

I am thrilled and honored to be the new President of the ML4 Foundation.

I remember vividly back in 2003, when my wife Susan and I were trying to get a diagnosis for our 2 year old daughter Lily.  Lily was unable to walk or speak, and had poor vision.  We met with many doctors and had many tests conducted, but we were no closer to determining the cause of Lily’s difficulties.

Every night, Susan would go on the internet, and research rare diseases.  I didn’t have the stomach to do this kind of research.  Most of the diseases with symptoms like Lily’s were fatal, painful, or both.  I told Susan, “I can’t help you do this research, but I promise you, once we find out what Lily has, I’m going to be on the Board of whatever disease it is!”

Susan’s diligence paid off.  She read, online, about a rare disease called ML4, described as “Retarded Jewish children with eye problems”.   We contacted the doctors at the National Institute of Health who were studying ML4.  They told us to fax a picture of Lily to them, because “all these kids look alike”.  They took one look at her picture, and said, “We have to do a blood test to confirm the diagnosis, but, by looking at this picture, we are 99% sure she has ML4!”

Believe it or not, we were thrilled with this news.  Unlike the other diseases that Susan researched, ML4 is not fatal or painful.  We also found out that even though Lily’s vision will deteriorate, her physical and mental skills, although severely limited, would not decline.   When I found out how rare ML4 was (only a few hundred known cases in the world), I had an upsetting thought: “Who is going to care about a few hundred blind and disabled Jewish kids?”

We soon heard there was a support and research group for ML4, and we were elated!  When I learned that the ML4 Foundation funded the research for a carrier test for ML4, and was conducting studies on the effects of ML4 in mice, I couldn’t wait to join!

At my first meeting, I went to the President, Randy Yudenfriend Glaser, and firmly said, “I’m going to be the President of this group one day!”  Just six short years later, this dream of mine became a reality.

I would like publicly to thank Randy for her tremendous leadership for more than 20 years as President of the ML4 Foundation.  Because of her hard work, we now have a carrier test and a mouse model. The ML4 Foundation is also funding medical research projects across the world.

Unfortunately, as of now, we have no treatments or cure for ML4.  Most children with ML4 are unable to walk or speak, and go blind by their teenage years. 

I have 3 primary goals for the ML4 Foundation.  The first is to provide reliable information and emotional support for families affected by ML4.   The second is to promote carrier and prenatal genetic testing, to help prevent new cases of ML4. The third goal is to promote and fund research to treat, and ultimately cure ML4. 

I am very optimistic that with your support, we will be able to achieve all of our goals!

Paul Tanenholz
President, ML4 Foundation
December 2009