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Perseverance, secret of all triumphs.
- Victor Hugo

Friday, October 3, 2014
Conf13 LOTS
Facing Late Onset Tay-Sachs and Sandhoff Diseases

Late Onset Tay-Sachs (LOTS) and Late Onset Sandhoff diseases are debilitating. They take away a level of independence that many of us take for granted. Imagine moving through life having to repeat yourself because your speech has been comprised by the disease; or having your dignity challenged due to the physical constraints of LOTS; and then witnessing your healthy peers mark their milestones when those mile markers may appear out of reach due to the disease. 

Today, honor the remarkable group of adults, young and old, who live with LOTS every day and move through their own lives with grace, dignity and defiance! Take a moment and get to know two artistic men (see below) who continue to pursue their art while Late Onset Tay-Sachs is ever present in their lives. Make a gift here to show your support of them and the many others who face their challenges!
What Should You Know About Late Onset Tay-Sachs 
and Late Onset Sandhoff Diseases?

Late Onset Tay-Sachs is caused by the deficiency of the same enzyme, Hexosaminidase A (Hex A), that is completely absent in its infantile form. Adults with Late Onset Tay-Sachs (LOTS) have residual activity that leads to a slower accumulation of lipids (GM2 Gangliosides) in the nerve cells that ultimately affects the central nervous system. Adults affected by Late Onset Sandhoff suffer from a deficiency of the Hexosaminidase A and Hexosaminidase B which also leads to the slow accumulation of GM2.

The first cases of LOTS were diagnosed in the late 1970s. Symptoms typically appear in adolescence as clumsiness, difficulty with speech and in about 40% of those affected, mental health issues are experienced. These varied symptoms can lead to an exceptionally long road to diagnosis with misdiagnoses including ALS and Multiple Sclerosis. 

LOTS is usually determined through a blood test to check the level of Hex A and is diagnosed by a neurologist, geneticist and the completion of a metabolic evaluation. Currently there are no treatments for LOTS or Late Onset Sandhoff diseases, however natural history studies have been conducted to help researchers understand the progression and biomarkers of the disease. These and other studies will ultimately help future clinical trials that hopefully lead to an effective treatment.

Portrait of an Artist: Meet David

Many of us had the pleasure of meeting David at the NTSAD Annual Family Conference in Atlanta last spring. He arrived with a confident yet quiet disposition and surprised us all with his incredible selection of jewelry that he made despite his battle with Late Onset Tay-Sachs. 


We recently found out that he's also an accomplished artist and hopes to use his talents for a career in graphics. He received a 

Bachelor of Arts, Media Arts and Animation from The Art Institute of Phoenix in March 2013. As one can imagine, the disease can have an affect on a young adult as they seek to gain an independent foothold in the world. We're all confident that David's perseverance will get him to where he wants to go! To see more of David's artwork visit his website here


Going Against the Grain
In John's Words

My name is John Pollman and about three years ago I was diagnosed with LOTS. It was a major shock to me, but I was initially told that I had ALS. Tay-Sachs is no fun, but I'll take it over ALS!


I've been a woodworker most of my life and I really enjoy it. I hadn't done a whole lot of it the past few years leading up to diagnosis.  But I will say that I think woodworking may have saved me. Not long after diagnosis I was deeply depressed, as you can well imagine. After a couple months of sitting around worrying about what symptom was coming next. I decided to try to find something to get my mind off of LOTS and I turned back to woodworking.


To tell you the truth, LOTS doesn't affect my woodworking skills too bad so far. I've still got

pretty good dexterity in my hands even though the weakness in my hands and triceps is noticeable. But I'm working through it and I just take a break when I need one. A few months ago I saw that my friend Jessie needed a bench (pictured, left) for her new bathroom.  I found a design that looked perfect and got to work. (Read more about Jessie's bench below.)


What I love about woodworking is that when I am working on a project, and this may sound strange, but I don't feel like I have LOTS! I'm able to immerse myself in my work and forget about my problems. I'm hoping to be able to find a way to market my work so that I might be able to use it to bring in a few dollars because my days working in the trades are numbered.


I will find a way to beat LOTS and live life on MY terms!

A Bench for Jessie
Jessie with her bench next to her mom,
Merlie (far left) and Laraine, Merlie's 
sister-in-law (aka Joe the trucker's mom).
This summer, John (who you met above) noticed a post by Merlie about the impending construction of a new handicapped-accessible bathroom for her daughter, Jessie, who is affected by the juvenile form of GM-1. He knew Jessie is a cowgirl at heart so he set out to build, with his own hands and not limited by Late Onset Tay-Sachs, a bench just for her. The bench was picked up in Michigan by Merlie's brother's stepson, Joe, who is a trucker. The bench was delivered in late August to Jessie's home in North Carolina thanks to the stellar planning between Merlie and Joe's parents.

It now holds a place of honor in Jessie's recently completed bathroom suite adding a real flare to
her cowgirl-theme. (Picture, right)

This generous gesture from John to Jessie is an incredible tribute to the connections families make through NTSAD.

Calling All Artists Affected by a Lysosomal Storage Disorder!

Genzyme, a Sanofi company, launched their EXPRESSIONS OF HOPE in September and will accept artwork (two-dimensional on paper or canvas) through the end of the year. Artwork will be virtually on display on their Gallery page in early 2015. 

Please click here for more information on this special program. We encourage the artists in the NTSAD family to submit their art  - and that includes anyone who has been touched by a lysosomal storage disease! 

Supporting NTSAD Makes a Difference!

We welcome gifts to support our many efforts to fund research, care for families and their loved ones. Gifts can be made through our website hereThank you for supporting NTSAD and giving hope to all our families!

Contact Us

Sue Kahn, Executive Director (
Joan Lawrence, Development Director (
Ingrid Miller, Office Manager (
Diana Pangonis, Communications Manager (
National Tay-Sachs &
Allied Diseases Association
2001 Beacon Street, #204
Boston, MA 02135
(617) 277-4463

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National Tay-Sachs & Allied Diseases Association | 2001 Beacon Street, #204 | Boston | MA | 02135