Ryan Anthony Babo was born February 19, 2002. Like all Tay-Sachs children, he was absolutely beautiful. I remember lying in bed next to him when he was just a week old, watching him sleep, wondering what I had ever done in my life to deserve him. He was the center of our universe, and we couldn’t have been happier.
Everything was normal for a very long time, and we had no reason to suspect anything was out of the ordinary. As Ryan grew, he met all of his developmental milestones. He rolled over on time, sat up on time, walked when he was 13 months old, and said his first words shortly after. It wasn’t until Ryan was 1½ years old that I began to suspect something might be wrong. And even then, the signs were so subtle that I couldn’t really put my finger on exactly what was worrying me.
I Had a Feeling Something Just Wasn't Right...
I had always tracked Ryan’s developmental milestones against the timeframes described in the baby books, and he continued to be within that wide range of "normal" that each of those books describe. But I had a feeling – some vague intuition I couldn’t put into words – that something just wasn’t quite right. I suppose it all started when we first took Ryan to daycare around that time. The other children seemed a little more coordinated, a little more nimble, and a little more talkative. The differences were not too dramatic, though, and I didn’t want to be one of those mothers who constantly compared her child to all of the other children. So I told myself that I was just being a foolish first-time parent who just needed to learn to relax a little.
Unfortunately, that’s what our pediatrician said too. She had an explanation for every one of our concerns. Ryan was clumsy, she said, because he was such a large child. Ryan was "jumpy" and startled at loud noises because he was just more sensitive than other children. Ryan wasn’t picking up new words very quickly because he was a boy, and boys are slower in language development than girls. She told us just to wait and give things time.
By the time Ryan turned 2 years old, I could no longer contain my worries. Ryan’s clumsiness hadn’t improved. He still drooled. His startle reflex had become worse. And most striking to me, he had added only a handful of new words to his vocabulary over the prior few months. The "language explosion" that all of the books described never came. So, despite our pediatrician’s assurances (once again) that everything was normal, we finally insisted on a referral to a speech pathologist. During Ryan’s evaluation, the speech pathologist not only confirmed that Ryan had speech delays, she also told us that she suspected he had gross and fine motor skill delays as well.
It was at this point that we first saw a neurologist and the roller coaster ride leading to Ryan’s diagnosis began. Ryan had an early juvenile form of Tay-Sachs, but we didn’t know it then. In fact, we didn’t find out until shortly after his 3rd birthday. The onset of Ryan’s symptoms was so late and developed so slowly that the doctors were unable to diagnose him until after he had gone through more than 9 months of repeated testing. Blood tests, urine tests, EEGs, multiple MRIs, hearing tests, eye tests – you name it. The doctors would order some tests, we would wait a few weeks for results, the results would come back normal, and we would start all over again with another round of tests. The doctors had no answers.
What's Most Important...
But I don’t want to focus on the doctors or the tests or the mistakes that were made during this entire process. None of that much matters anymore. What’s most important is to try to help anyone who has taken the time to read this story to know what Ryan was like as a person, and how it felt (and still feels) to have been blessed with a child like him, only to lose him to this horrific disease called Tay-Sachs that few people – other than those of us who have firsthand knowledge of it – truly understand.
What was most amazing about Ryan was something no picture can convey. Sure, everyone who met him commented first on his large blue eyes and his extraordinarily long eyelashes that were destined to be the envy of every woman on this planet. But it was his personality that truly drew people in. Everyone, adults and children alike, gravitated towards him. Adults fawned over his sweetness and gentle nature. Even the children in his daycare, at that toddler age when children are not exactly known for their great social skills and sensitivity, would gather around him every day and shower him with affection. Hugs and kisses all around for Ryan. He had a laid-back, eternally happy, personality that made everyone fall in love with him instantly. We were so proud – Ryan wasn’t anything like his somewhat antisocial parents. We used to joke that Ryan obviously was the product of our recessive genes – at least until the joke was no longer funny anymore.
Perhaps people were so drawn to Ryan because he was always happy and smiling. There was a brightness to his face and his eyes that said, “life is good!” He had a great sense of humor too, and would break into fits of giggles whenever his daddy or I would say something that he thought was hilarious, like “there’s a bug in the rug” or “no way, Jose!” Although he couldn’t always do the things that other children could do physically, he was more than content to stand back and watch them and just enjoy their silly antics. He would laugh uncontrollably, and I swear he could watch them for hours, getting so much pleasure merely from watching alone.
His disposition was so good that when his symptoms worsened and he began to fall down unexpectedly, he would respond to our frantic inquiries of “are you okay” with a smile and a “yeah” without fail. Although it is a difficult memory now, we were so proud that in the initial stages of his transplant, when I would have to wake him up at 4 a.m. every morning to give him his chemotherapy medication, and he would sit up, smile, take the medication without protest, and then curl up and go back to sleep. Everyone was amazed at his good spirits despite the miserable circumstances.
Maybe Ryan was such a people magnet because he was so giving and loving, even at such an early age. He was the type of child who would hand over his toys to anyone who asked, and then cry because he still wanted to play with them. He was so sensitive that he would cry whenever he heard a raised voice or an angry tone. Once, when two nurses who were administering one of his tests began "play fighting," Ryan broke out in uncontrollable tears. He only calmed down after he was sedated (for an MRI). And he loved to "help out" in any way possible.
I will never forget that each morning, from the time he was about 1½ years old until his last days at home with us, Ryan would stand outside the shower and hand me my towel when I was done, and then, bring me my iced coffee, trying his best not to spill. And although he only got to spend time with his sister Regan for the first two months of her life, Ryan doted on her. Every time he saw us feeding Regan, he would yell, “bottle, bottle” and insist that he feed her himself. He loved to sit by her while she was in her bouncer chair and stroke her hair or touch her face. Far from being jealous of the new baby in the house, Ryan seemed to want nothing more than to take care of her.
Even though I could go on to recite hundreds of wonderful memories that I have of Ryan, it would be dishonest for me to ignore the painful memories that also remain with me. I remember that when Ryan was a baby, just learning to stand up on his own, each morning when we would come into his room, he would jump up and down in his crib with excitement. He loved to play a game with us where he would hand us his binkie, we would throw it down in the bed, and he would scramble to try to retrieve it again before we could take it away. By the time he was 3 years old, he no longer stood up in his crib each morning. He couldn’t. He no longer had the strength in his legs to go from a seated position to a standing position. When he tried, his legs would give out, and he would fall back down. At first, he adapted by going back to crawling to get where he needed to go or reach any object that he wanted. But within a few months, he couldn’t even do that anymore.
He Never Cried or Became Discouraged...
Amazingly, somehow, despite the weakness in his legs, he could still walk as long as we held his hand. And, even though it was difficult for him, he wanted to walk all the time. He went for walks every day around our block, always remembering to pick a flower for his mommy (flowers which I still have to this day), but sometimes, if he walked to long or too far, his legs eventually would give out, and he would crumple to the ground. Or he would stop and stand in place, "marching," because his brain was no longer sending the right signals to his muscles. He never cried or became discouraged, though, and after a rest, he would get back up and go on, until we forced him to stop.
By his 3rd birthday, even more symptoms had appeared. At times, his legs would start twitching uncontrollably. Although he still loved to sit and play with his toys, he lost some of his fine motor skills. His left arm developed a contraction, so he would hold it up to his chest, curled in a fist, while handling objects with his other "favored" hand. His fingers could no longer grasp small objects. Within a span of a couple of months, he went from being able to hold small puzzle pieces by the little raised red knob embedded in them and placing them in the correct places, to no longer being able to do either.
I think the most difficult memory of that time is the memory of what initially appeared to be seizures. He would stare up at the ceiling for about 30 seconds, and then gag so forcefully that we feared he wasn’t breathing. His neurologist prescribed anti-seizure medication, and at first, it did wonders. Ryan became more alert and talkative than he had been in those few months when all of the truly scary symptoms began to appear. We were overjoyed, convinced that the solution to what we saw as his most disturbing symptoms had been found.
It might seem odd that we were so happy in light of all of the additional symptoms that Ryan had begun to experience by that time. I would like to think that it was optimism, but in retrospect, it was almost certainly denial. But at that point, all that truly mattered to us were the doctors’ assurances that Ryan did not have a degenerative disease. We could cope with anything, we could adapt in any way necessary, as long as we knew that we weren’t going to lose him. So we did what any parents would do – we took him to therapy, we altered our view of his future, and we chose to believe that everything would turn out okay – at least until the day that we took Ryan to a new neurologist.
The new neurologist knew the minute he saw Ryan and heard us describe his startle reflex that something very bad was the cause of all the symptoms. He ordered more blood tests for group of lysosomal storage diseases (one of which is Tay-Sachs), confident that one would come back positive. He told us, quite bluntly, that Ryan would die. We didn’t want to believe him, and we frantically sought reassurance that he was wrong, which we received from Ryan’s primarily neurologist who told us that there was "no way" Ryan could have Tay-Sachs or any of the other related diseases. So we tried to hold on to what little hope we could, but we celebrated Ryan’s 3rd birthday under a cloud of anxiety and fear waiting for the test results. Less than two weeks later, we received the news and the world came crashing down around us.
Choosing Between the Lesser of Two Very Bad Evils...
We weren’t totally in the dark about treatment "options," if you can even call the choices we had real options. It was more like choosing between the lesser of two very bad evils – allow the disease to run its course or attempt a cord blood transplant, which we knew was an extremely risky procedure. The doctors at Duke who conducted Ryan’s transplant evaluation concluded that he was a very good candidate for transplant because his disease was moving so slowly. Yet we were still racing against time because each day we delayed our decision meant more disease progression and more damage to Ryan’s brain – damage that even a transplant could not reverse. We knew that if we chose a transplant and Ryan did not survive, we would have robbed him of his last days of life and his sister’s only chance to ever know him. But we also knew that if we didn’t move forward with the transplant, the outcome was certain.
We chose the transplant, which was performed by a wonderful doctor at University Medical Center in Tucson, Arizona – Dr. Michael Graham. Despite Dr. Graham’s excellent care and tireless dedication, Ryan experienced many of the unpreventable complications that can occur during a transplant. He was in the hospital for 4 months, and although he fought so hard and pulled off more "miracles" during that those months than the doctors ever thought possible, he finally lost his battle on August 30, 2005.
I cannot honestly say that I have no regrets, although I believe that both my husband and I have come to terms with our decision. We have no choice, really, because we have another child (unaffected, thankfully) who needs us too. But what I have not dealt with so well is the knowledge that with all of the advances in medical care and science over the past decade, the only current treatment option for children like Ryan is one that is so brutal and so fraught with possible complications. Which is why this organization is so important to me and we cannot stop until our work is done and we find a cure.
Cheryl Babo, August 2007