One Wrong Letter

Allison and Tim lord are parents of two year old Hayden. The two things that I think of the most that Hayden, which a lot of people got from him right from the beginning is that he was always, I thought very funny. I think you're very, very, very, very serious. I mean, he loved to smile and laugh. And he just used to fall. I mean, this was later when he was about a year old. He just found the funniest thing, hilarious. And so he and I would just crack each other up. Hayden seemed to be developing normally for the first few months, but Alison began to notice that some things were not quite right. I was very anxious all the time with Hayden. I sense it something was not the same. I would see my Friends changing the diaper of their child who was around the same age. Their newborn and see the physical movement and the legs moving and things like that. And Hayden didn't do that. Doctors told them that Hayden was just developing a bit slowly, but by the time he turned a year old, it was clear something serious was wrong. Never crawled. He never talked. He never ate with his fingers. He seemed to be going backwards, not progressing. I remember the last time you laughed. And I took a trip with him out to pick up a suit because we were going to a wedding night night and we came back and it was really windy and he just loves to feel the wind and so we had a great time. We came back and I propped him up right here in the couch and I was sitting next to him and he just kind of threw his head back and laughed. What a fun trip. And that's the last time he was at the back. That's a really hard. It turned out that Hayden had Tay Sachs disease, a genetic condition that slowly destroys a baby's brain. What happens is a child appears normal at birth. And over the course of the first year, begins to miss developmental milestones. So at 6 months, a child should be turning over a child is unable to turn over, to sit up, to stand, to walk, to talk. Tay Sachs begins at one infinitesimal spot on the DNA ladder when just one letter goes wrong. Say this cluster of atoms to picture of that letter, a mistake here can come down to just four atoms. That's it. But since genes create proteins, that error creates a problem in this protein. Which is supposed to dissolve fat in the brain. So now the protein doesn't work so fat builds up, swells the brain, and eventually strangles and crushes critical brain cells. And all this is the result of one bad letter in that baby's DNA. In most cases, it's a single base change, as we say, a letter difference. One defective letter out of 3 billion and no way to fix it. Tay Sachs is a relentlessly progressive disease. In the years since his diagnosis, Eden has gone blind, he can't eat solid food. It's harder and harder for him to swallow, he can't move on his own at all. And he has seizures as often as ten times a day. For children with classical Tay Sachs disease, there's only one outcome. And children die by age 5 to 7, sometimes even before H 5. As it happens, Tim lord has an identical twin brother. When Hayden was diagnosed, that brother Charlie went to New York to be with Jim. And of course, Charlie called his wife, Blythe, to tell her the news, Blythe had been Allison's roommate in college and her best friend. Charlie told me that Hayden had Tay Sachs. He called me on the phone and he told me immediately what it was. I went up into the computer and looked it up and then just couldn't believe what I read. So you finish your cookie. Blythe and Charlie had a three year old daughter, Taylor, and a baby girl named Cameron. Cameron was healthy and happy except for one small thing. On the NTS AD website it talks about the typical get between 6 and 8 months is when the signs start coming, but one of the early signs is that they startle easily. And Hayden had always had a really heavy startle response. But we noticed that Cameron had a comparable startle response, not quite as severe, but absolutely. Not like Taylor had had. As soon as she saw that, I really warning sign on the Tay Sachs website. Blythe went to get herself and Cameron tested. It was another week. It was exactly a week until we got the final results on Cameron's button work. And then the Tuesday before Thanksgiving, we went into our pediatrician's office and he had the results, and we found out that night that both was a carrier, and that Cameron had to save sex. He said, all I said was I'm sorry. Tay Sachs is a very rare condition. It usually occurs in specific groups like Ashkenazi Jews, and even then, the baby must inherit the bad gene from both parents. So even though there is a Tay Sachs test, the lords had no reason to think they would be at risk. And yet, incredibly, all four of them, Tim, and Charlie and both their wives, all four were carriers. That was an unbelievably bad role of the genetic dice. Charlie and I are incredibly close. And have been all our lives. And when I think about him and Blythe, having to go through this, it just seems really cruel. It just seems too much. I had already geared myself up for being my brother's rock. And I couldn't imagine having to help him. And go through it myself. There's life. For families like the lords, and for everybody, the human genome project offers the chance to find out early if we're at risk for all kinds of diseases. I love Taylor. I would like to see a really aggressive push to develop a test for hundreds of genetic diseases. So that parents could be informed before they started to have children as to the dangers that face them. And I think it's within our grasp. Now that they've mapped the human gene, I mean, the information is there for people to begin to sort through. My pocket. They're horrible, horrible, horrible diseases, and if there's any way that you can be tested for a whole host of them and not have them affect the child. I think it's something that we have to focus on. Hayden lord died a few months before his third birthday.