Evan’s Story

Evan lives in Arizona and is the son of Brad and Marilee

Diagnosis – GM1 Gangliosidosis Type 2 (Late infantile/Juvenile)

Evan was born in August of 2012. He was a happy and healthy baby. His balance was fine when he began walking and he seemed to understand pretty normally. At age two, he was behind in speech, only saying approximations for some single words. He also had problems with his eye alignment. He was diagnosed at this time (age 2) along with his older brother Eli. Eli was five at the time, his family having already spent three years searching for answers. If Evan hadn’t had an older brother with GM1, it likely would have taken his family much longer to realize something as serious as a degenerative storage disease was going on.

After age two, his speech plateaued and regressed, his vision problems worsened and he got a little wobbly. At this time, Evan wasn’t learning any new words, but he did learn some simple sign language. He began to squint a lot and have vision difficulties and was prescribed glasses. As his strabismus worsened, he was given corrective eye surgery. At age three his balance worsened a bit and he began wearing a helmet pretty much all of the time to prevent injuries from falls. He lost all of the sign language he had learned, some of his words and his fine motor skills (like the ability to stack blocks). Amidst these problems, he continued to walk pretty well and be very active until age five.

After Evan turned five, his parents noticed a significant decline in his balance, speech and neurological processing. Because he’s been leaning more and more on others while walking and holding their hand, he has recently begun the use of a walker. He is down to just a few words; Mah, (more or Mom), Dah (Dad), and Nah (no) and sometimes even mixes up these words and meanings. His processing speed has also slowed down. This includes having slower responses and staring off from time to time. Despite these challenges, he generally maintains his high energy and loves to laugh.

His interest in people has not diminished. He will walk up to perfect strangers and simply stand and stare at them…for a long time. They inevitably comment on his beautiful eyes. At home or school, he will laugh for no reason at all except that he is looking at someone he loves. He will continue this laughing until it is clearly forced. Whoever comes into his home…is, in his mind, there to visit him and him alone.  And without hesitation or awareness of boundaries, he inevitably ends up in their lap. He is a joy, a sweetheart and keeps everyone on their toes. We cherish our amazing, wonderful, sweet and loving Evan!! The Family Blog: http://gm1gangliosidosis.blogspot.com












Evan’s Story

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