Learning Genetics

Joshua Smith dons a lab coat and settles in at a laboratory bench to learn how to process human cells. He will eventually understand how to extract DNA from cells and detect small variations within the genome. The 25-year-old from San Diego is part of a unique learning experience at The Feinstein Institute for Medical Research. He traveled from California to New York in October to be part of the Helen Keller National Center in Sands Point. Joshua was diagnosed in infancy with CHARGE Syndrome, an acronym that touches on many important organs of the body – the retina, heart, ears and kidney. His parents were also told that he would have development delays in his stature.

Josh was five months old when he had his first hearing aids. He was fitted for glasses at 18 months. Years later, he would undergo a cochlear implant. Still, Josh has significant hearing loss and his eyesight grows progressively worse. He has retinal colobramas, which is like a cleft in the retina that creates a blind spot and weakens the entire structure. As a toddler, his parents learned that he also failed to develop the semi-circular canals in the ears. The fluid in the canals serve as our gyroscope and allows us to know which way is upside down or right-side up and gives us directional cues as we navigate the world. This problem sometimes throws Josh off balance.

These physical limitations did not stop the curious boy from his penchant for living. As a child, he’d examine every detail of objects that he got his hands on. His mother said that as he got a little older, he proceeded to disassemble every toy possible. He was a master at building futuristic things out of Legos. He was obsessed with dinosaurs and drawing intricate creatures from his imagination.

             By junior high school, Josh’s interests in genetics (his syndrome is caused by a genetic mutation) led him to his local library where he checked out – and read – virtually every book on genetics.  “That interest has continued to this day,” said his mother.

              As a teenager, Josh spent a summer at the Helen Keller Institute. Then, they worked on developing his skills to live independently – learning how to live in an apartment and travel around without assistance. This time, they have added vocational skills, and Josh’s interest in genetics led his teacher to call the Feinstein – where genetics is a big part of the research program.

              Working once a week with Feinstein geneticist Annette Lee, PhD, and her colleagues, Josh has isolated DNA from saliva and then blood and will go on to learn how to carry out basic procedures used in genetic research.

               “He is a hard worker,” said Dr. Lee. “His enthusiasm, intelligence and love of science are felt throughout the department.”

                Josh hopes to prepare for a job in the science field. “I have always loved science,” he said during a recent work day. “I am interested in genetics in particular.

                The young man has had 8 different surgeries throughout his life and has swallowed a mix of medication for any number of problems. He has attended speech therapy since he was a year old. And along the way, doctors were always baffled over how he beats the odds of his condition. His vision and hearing was better than expected. His smarts and ambition led him to complete the first two years of college. He’s also held down several part-time jobs. “Although Josh faces many challenges on a daily basis, his curiosity, intellect and sense of humor see him through,” said his mother.

                Josh taught his parents to “expect the unexpected….   Every time the ophthalmologist does an exam he says:  “I don’t know how he sees as well as he does.  The audiologist said:  “With that audiogram I am surprised he is doing so well with his speech.”  The neurologist said: “With no semi-circular canals, I’m surprised he can walk without falling down.”

                And Josh has learned that he can expect to follow his passion for science and see where it will lead.

Comments

[Lisa Weir]

As the parent of an 11 year-old with CHARGE, it is very inspiring to read about Josh. As is the case with Josh's parents, we have also learned to expect the unexpected with our daughter. Keep up the great work, Josh!

[Pamela Ryan]

Josh,
Well done!! It is so nice to read this story. I work with many young people with CHARGE syndrome and reading about you is an inspiration to me and when I tell them about you, they will also be inspired by your story.
pam ryan

[Jeff and Ruth Campbell]

We have a grandson with CHARGE and he never ceases to amaze us with his lust for learning. Very similar to Josh's circumstances Sean is 7 and has hearing, visual, and balancing problems. Sean excells in school, learned to read very early and is also interested in science, especially the human body, science, space, and dinasours. He just finished a book about the youngest man to ever climb Mt. Everist. He read the 286 page documentary in two days with full recall. His parents have been his greatest support and of course he is the light of our life. We wish Josh the best.

[Jeff and Ruth Campbell]

Make that Mt Everest....... oops

[Jeff and Ruth Campbell]

Sean would have certainly corrected me on that spelling.... lol