Lisa and Sebastian Robaut have two sons, Nathan (3 years old) and Dillon (5 months old). Nathan and Dillon have just been diagnosed with Tay-Sachs disease. Tay-Sachs is a fatal, genetic disease with no current cure. Lisa and Sebastian had not heard of Tay-Sachs in any significant way before Nathan was diagnosed. Neither Lisa nor Sebastian is of Eastern European, Jewish, French Canadian or Cajun decent. Sebastian is French/German and Lisa is Norwegian/English.
Nathan is a very happy and active boy, but he doesn’t speak and has trouble walking. Lisa and Sebastian began taking Nathan to numerous doctors and highly recommended specialists when he was about 18 months old. Prior to the recent Tay-Sachs diagnosis, Nathan’s diagnosis was apraxia. The doctors had all been very optimistic that with speech and occupational therapy, Nathan would learn to talk. When Lisa became pregnant with Dillon she had an amnio and explained Nathan’s difficulties to her geneticist. Lisa was never asked about any testing for Tay-Sachs during either of her pregnancies and assumed that she was being tested for everything possible.
After Dillon was born, Lisa and Sebastian noticed Nathan was no longer standing up unassisted. Regression is a big red flag for children – they do not regress unless something is terribly wrong. Nathan’s doctors began genetic testing. When the lab noticed Nathan’s levels of the hex-A enzyme were inconsistent, Lisa and Sebastian were sent in for blood testing, but were told not to panic, this was routine and they just needed to rule the possibility out. Against the odds, both Lisa and Sebastian are Tay-Sachs carriers and both Nathan and Dillon have juvenile Tay-Sachs. Most children diagnosed have the infantile form – their bodies do not produce any of the necessary hex-A enzyme whereas in the juvenile form they produce some but not enough.
Lisa and Sebastian have looked into the Duke Bone Marrow/Stem Cell transplant program and have spoken with the doctors about admitting Nathan and Dillon into the program. Given the invasive nature of this treatment, and the mixed results, they are not sure that this is the most viable option at the moment. In their research, they found out about gene and stem cell therapy which seems to offer some hope for Nathan and Dillon. The Tay-Sachs Gene Therapy Consortium believes so too, but has stated that clinical trials won’t be available until 2011 in the United States; they do not have this kind of time; time is brain cells.
Through a friend, Lisa and Sebastian have found a doctor in Seoul who specializes in gene therapy and stem cell treatment. This doctor comes highly recommended by a friend who has been cured of stage-four lung cancer by his treatment and he believes he can help Nathan and Dillon. This doctor has told Lisa and Sebastian that he believes he can deliver the hex-a gene to the brain via family members’ stem cells and that although he has never treated Tay-Sachs, if there is a treatment option, this is it. This doctor assures them there is no risk, no side effects, no chemo, just an IV in the arm several times a week for 4-6 weeks.
As unconventional and scary as this all seems, given that Lisa and Sebastian know someone who has gone through this treatment with this doctor, this seems like a very viable option at this moment (and even though some of the Robaut’s doctors don’t believe this will work, no alternatives are offered). Lisa and Sebastian were told by their geneticist that they had to do this treatment as they had nothing to lose and there are no other real options today. Lisa and Sebastian have made the decision to take their boys to Seoul for gene therapy and stem cell treatment and believe they may be able to leave for Seoul as early as 12/12.
