Sunshine Baby:
Ryan James Conklin

On October 23, 1997, we welcomed our second son, Ryan James Conklin into the world. Ryan’s 2 1/2 year old brother, Christopher had been hoping for a baby brother. Life was good and we felt truly blessed with our two beautiful sons.

The first three months passed without incident. By the time Ryan was four months old, he had been diagnosed with a kidney reflux and was having surgery to repair an inguinal hernia. This, along with a slow weight gain, prompted our pediatrician to refer us to a pediatric geneticist, an endocrinologist and a neurologist. After extensive lab tests (all results normal) and examinations by all three physicians, the neurologist diagnosed Ryan with transient hypertonia of infancy, a high muscle tone usually outgrown with therapy by 18 months of age. He also informed us that if Ryan did not outgrow the high tone our worst-case scenario would be mild CP. At Ryan’s first therapy session, his therapist felt certain Ryan did not have CP, and that with aggressive therapy, he would outgrow the hypertonia. We were determined to get Ryan the best possible therapists and to dedicate every free second at home doing his exercises.

At seven months old, Ryan had what the doctors called his first “breath-holding spell” (we later discovered these were laryngeal spasms common to Gaucher Disease). We were told he was just trying to control us and that this too would pass. It was around this time that Ryan’s eyes would occasionally turn in. Once again, we were assured this was common with hypertonia and surgically correctable. Every time we had a concern, someone had an easy explanation for it. When Ryan was nine months old, we were thrilled when his geneticist told us that she had now ruled out everything fatal and recommended that we continue with the therapy. We always said that we could handle anything as long as it wasn’t something fatal.

As the months passed, we became overwhelmed. Ryan had several appointments a week, including therapists who visited our home regularly. We were concerned that he was not progressing as fast as was predicted and we lived in fear that he would have a “breath-holding spell” resulting in yet another 911 call. The only way to make Ryan happy and prevent some of his “breath holding” was to hold him constantly. His 5-6 feedings a day took up to one hour each and he was sleeping very little. Ryan began to fear all strangers, associating everyone with being a Doctor or a therapist.

Life for Christopher was quickly turning into too much TV time, I had my hands full trying to help Ryan and Glen was working as much overtime as possible to help with our mounting medical bills. We decided to sell our home and move 700 miles away to be near my parents. Life for Christopher quickly improved, as he made his new best friend in Grandpa. Mommy and Ryan however, were back at it again. We carefully selected his new therapists, who all agreed that Ryan’s intelligence was above average and with continued therapy, he would be fine.

With his therapists help, we explored alternative methods of therapy, including Chiropractic care three times a week and massage therapy several times a day. Ryan was a beautiful, smart, loving boy with a smile that could melt your heart. He deserved the best and we were determined to do whatever was needed to help him.

By the time Ryan was a year old, he had three surgeries (hernia, tubes in both ears and strabismus surgery) numerous x-rays, ultrasound, lab tests and finally an MRI. All test results came back normal. The break that we had been waiting for finally came. I was given the name of a therapist considered to be one of the best in the country, however, she was 3,000 miles away. After mailing her Ryan’s history she agreed to do a one-week intensive therapy session with him. Two weeks before Christmas of 1998, Ryan and I, and two of his therapists, flew cross-country. By the end of the week, the therapist felt that his hypertonia resulted from the plates in his head shifting during the birth process, resulting in pressure on his spinal column. This, of course, was correctable, through cranial-sacral therapy. We returned home exhausted, but overjoyed with a possible diagnosis.

There was no one in our area trained in this form of therapy, so we would once again have to travel. In late January, we left our home in South Carolina to head for Florida. Just hours from home, Ryan had another “breath-holding spell” and lost consciousness. Within the next few hours he was admitted to the Pediatric ICU at the Medical University of South Carolina with a diagnosis of pneumonia. By that evening, he was placed on a ventilator and his enlarged liver and spleen were discovered. Over the next few days, his possible diagnosis went from leukemia to lymphoma, and ultimately Gaucher disease. Ryan was taken off the ventilator after the first week and was stable. Still hoping for a miracle, we were making preparations to start him on enzyme replacement therapy. The day before he was to have his first treatment, on February 2, 1999, Ryan took a turn for the worst. He passed away several hours later in Mommy’s arms with Daddy at his side, just one week after his diagnosis, at fifteen months old.

Saying good-bye to Ryan was the hardest thing we have ever had to do. We feel blessed to have been chosen as Ryan’s parents, and are thankful for every day that we had him. He is missed more than words can say, but we can look forward to the day that we will all be together again. We have no answers to the questions we so often ask, but we believe and have faith in the one who does. We made a decision to support the Children’s Gaucher Research Fund to hopefully find a cure and prevent other families from suffering the way we do.

Kathy and Glen Conklin
N. Myrtle Beach, South Carolina