Shelby Griffin

My husband, Jim “Spiff” Griffin and I, were married in 2003. Over the next 4 years, the US Navy moved us three times, so we were thrilled to eventually move closer to both our families. We were even happier to learn we were expecting a little one in 2008.

By the end of my pregnancy, our son wasn’t gaining weight as expected. Our little peanut Alexander eventually arrived, weighing less than 5 pounds. There were several indicators that led our doctors to encourage us to pursue genetic testing. The low birth weight, little low set ears, a small chin, tiny unusually shaped feet, a small hole in his heart, syndactyly (webbing) of fingers and toes, a sacral dimple, feeding difficulty, the list went on….We were in shock but hoped that there was a simple explanation for all this.

We spent nearly 2 weeks in the NICU before being allowed to bring Alex home, expecting the results from his “genetic testing” would soon follow. Just a short time after we got home, the NICU doctor called my husband’s cell phone, as he stood in line at the pharmacy. She told him that Alex’s testing indicated a rare chromosome 18 condition she had never seen before, there probably weren’t very many other cases and none in our state, and that we “should probably look for a pediatrician or genetic counselor to explain it to us-quickly-because it would probably be very similar to a condition called Trisomy 18 and she didn’t think he would live very long.”

That call absolutely devastated us. We were able to call and get a very quick appointment with the genetics center at our local university. We spent the next few days playing with Alex, taking him for long walks, reading to him, taking pictures of everything and just spending time together as a family. We also sought out support from organizations for families who had children with Trisomy 18 & began researching online.

We were even more shocked to meet with a genetic counselor three days later. She told us the correct name for Alex’s chromosome change-Tetrasomy 18p-and explained that it was a duplication of the short arm of the 18th chromosome. She also explained that while she had fortunately seen one other child with Tetrasomy 18p in her career, it was a very rare condition estimated to occur only once in every 140,000 births. But she gave us hope by saying, “Like any other parent, you may have this child for 2 years, for 20 years or he may outlive you-so treat him as you would any other child.” And most importantly, she also gave us hope in the form of a thick sheet of print outs from an organization called the Chromosome 18 Registry, and told us those other parents would teach us more about our child than any doctors. With only 40 reported cases in the medical literature, and possibly just a few hundred cases around the world, we knew most doctors would not be familiar with Tetrasomy 18p, and we would need to be proactive in getting information from other families that might help our son be healthy and happy.

We joined the Chromosome 18 Registry & Research Society that afternoon of October 24, 2008 and it has been a tremendous help. Right away we were connected with an online community of families who provided medical information and emotional support when we needed it most. The other families have walked in our shoes, they know the emotions we experience, and they warmly share their own knowledge. We’ve been blessed to meet many of these families and their beautiful children at the Chromosome 18 Registry’s annual conferences. We’ve learned about other chromosome 18 changes as well, and have made friends with other families as close as our own hometown, to as far as Japan and Australia. Our extended C18 family cheers for us when things are going well and comforts us when we confront new obstacles.

Life with Alex has thrown some curve balls at us. He started having real difficulty eating and gaining weight at age 2. Ultimately, he was diagnosed with Eosinophilic Esophagitis (EoE) and had a feeding tube surgery in 2011, which has led to tremendous improvement in weight gain and activity. Alex was also diagnosed with a choledochal cyst in 2012, after beginning to show a lot of discomfort and having difficulty keeping food down. Much like the feeding tube, we had hoped to avoid surgery, but we saw almost immediate benefits for him when it was complete. It has been a blessing to be engaged with the Registry all this time so that we could learn from others who have been there before and share some of the details of our particular experience.

Alex is a joyful child who is very loving and well loved. He enjoys swimming, music (all kinds but has recently embraced 1970s & 1980s era rock music), visiting theme parks, the beach, and playing with animals, especially dogs. He attends a local preschool program for children with special needs and really enjoys being around other children. He is learning to walk and will soon be participating in his first 5K walk. On some days we feel like our minivan could be weighted down with awareness ribbons, and we’re too familiar with the local Children’s Hospital, but our son is making great progress and is a huge inspiration as he barrels through life. Through everything, he just keeps going! We’re very blessed to have him in our lives, and he teaches us something new nearly every day.

-Shelby & Jim “Spiff” Griffin