TLC’s “Little Couple” looks to DNA from saliva for genetic testing
Since launching in December of 2009, The Genetic Link has kept its readers informed of a variety of unique ways in which DNA from saliva (collected with Oragene) is being used for genetic research and testing. Every day, I hear amazing stories of how our customers are using our products in the research and clinical community. This past week, I heard a story that I wanted to share with you. I hope you enjoy it.
You may be familiar with the hit reality TV show on the TLC network called 'The Little Couple'. This show features Bill Klein and Jen Arnold. Bill and Jen are just like your average newlyweds -- except for the fact that they're both under 4 feet tall. ‘The Little Couple’ is a new series for TLC that follows the couple as they embark on their new life together.
I had the pleasure of speaking with Bill Klein recently to understand how he came to use the Oragene kit. If you’re a follower of the TV show, you’ll know that Bill and Jen are hoping to have a baby. They face several challenges including Jen’s frame (she’s 3 feet 2 inches tall) and she has a very short airway which would make it difficult to intubate her if she needed anaesthesia. The risk factors have led them to explore surrogacy. To complicate matters further, should a fetus inherit both Jen’s and Bill's dominant dwarfism genes, a baby would have little chance of survival. They are hoping that genetic testing will help them better understand the risks.
Bill, a self-professed science geek who has a degree in Biology from New York University and Jen, a neonatologist at Texas Children’s Hospital, are approaching this logically. With their strong science backgrounds, they are well equipped with information.
Their unique challenges brought them to Dr. Robert Boostanfar at HRC Fertility in California. Dr. Boostanfar’s first step was to fully understand the causes of each of their dwarfism. Jen’s dwarfism is confirmed to be attributed to Spondyloepiphyseal dysplasia (SED). SED is a descriptive term for a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. Spondyloepiphyseal dysplasia is one of the most common causes of short stature.
Bill’s dwarfism is more complex. Bill has been diagnosed with a variant – an SED mutation which was not previously linked to dwarfism. Because this mutation was not previously linked to dwarfism, they needed to confirm that this, in fact, is what has caused it. Dr. Boostanfar recommended that Bill’s parents undergo genetic testing to confirm if this is indeed the cause of his dwarfism.
Dr. Boostanfar and HRC Fertility use Connective Tissue Gene Tests (CTGT) for genetic testing for people with inherited connective tissue disorders. CTGT, whose mandate is to help physicians accurately diagnose inherited connective tissue disorders, is located in Pennsylvania. HRC is in southern California, Bill’s mother lives in New York state and his father lives in Florida. The logistics of getting a blood sample and the inconvenience for Bill’s parents were their next challenges. Fortunately, CTGT accepts saliva samples for genetic testing. But, CTGT doesn’t accept all saliva samples. They only accept samples collected with the Oragene•DNA Self-Collection Kit or the Oragene•DNA Saliva Collection Kit for Young Children. This is exactly how Bill found DNA Genotek and Oragene•DNA. Oragene•DNA self-collection kits were sent by mail to Bill’s parents who will spit into the kit and mail the sample to CTGT for analysis. After the analysis is complete, CTGT will send the results to Dr. Boostanfar.
Bill and Jen don’t yet know the outcome of this genetic testing nor do they know how the results could impact their plans for a family. But everyone at DNA Genotek wishes Bill and Jen well on this journey. We’re proud that DNA Genotek could play a very small role in their lives.