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Helen Campbell joined the GGC Foundation Board of Trustees in 2023. She was born and raised in Florence, SC and still lives there today with her husband, Pierce, an attorney, and the CEO of Turner Padget, and their three children: Susan, 16, McCall, 13, and Josephine 11. Helen, the daughter of a now retired long-time Florence pediatrician, Dr. Charles Jordan, grew up watching her father push for high quality, accessible pediatric care, which always included proactive, preventative care, just as much as state-of-the-art disease and symptom treatment. So, it should come as no surprise that Helen took this same approach, when seeking answers for how best to help her son with major developmental delays.
Despite being told, by multiple doctors, that she should just accept that a large portion of parents never find a “reason” behind their child’s developmental delays, and it was looking like this would be the case with her child, Helen never lost hope that genetics could one day provide her with the answers she needed, to better understand and care for her child. So, despite having previously received normal results on all the prior genetic tests done on him, she asked that he be tested once more. This time, though, she had a specific test that she was interested in, a test which would determine if he had a genetic syndrome called Smith-Magenis Syndrome.
Well, this time, they got a hit! It turns out her son was missing one letter, on one of the two copies of the RAI1 gene, on Chromosome 17! This caused a “frameshift,” which causes this gene to misread, because it must skip the missing letter, and pull the next letter, to create the code of information to be read. Genes are designed to read every three letters as a piece of information. For example, if we were to use the letters in the alphabet, a correct reading of the alphabet would be “ABC,” if we are putting every three letters together as a group. However, if the letter “C” was missing, then it would read, “AB_D,” as we would have to skip the missing letter “C” and pull the next letter “D” to complete the code. This is what happened to Helen’s son’s gene.
Interestingly, Helen’s son’s exact deletion had never been seen before, though. So, the Greenwood Genetics Research Department had to determine whether this presentation was pathogenic or benign. In the end, they determined that this finding was in fact pathogenic, which therefore meant he would be given the diagnosis of Smith-Magenis Syndrome, a syndrome which has traditionally been diagnosed when a section of chromosome 17 is missing, of which the RAI1 gene is found. However, more recently, thanks to samples like her son’s and others, geneticists have discovered that it is the RAI1 gene that is responsible for the complications seen in children with this syndrome. Therefore, they now know that if anything is wrong with a person’s RAI1 gene, no matter how small, then a Smith-Magenis Syndrome diagnosis is warranted.
Helen’s son’s presentation has been very interesting to those interested in Smith-Magenis Syndrome because much is still to be learned as to the differences in presentation seen a mutation vs. deletion. So much so, he is now followed by, and has on his team guiding his care, one of the two people credited with the discovery of Smith-Magenis Syndrome, Dr. Ann Smith! Every time Helen’s son attends his regular follow-up appointments at Children’s National Hospital, in Washington, DC., he has Dr. Ann Smith, of “Smith”-Magenis Syndrome, linked in via zoom from Maryland, where she just retired from the National Institute of Health, to add her perspective, expertise and guidance on best care practices, as it relates to treating children with Smith-Magenis Syndrome!
So, when asked why Helen is excited to join the GGC Foundation Board of Trustees, she had the following to say:
“The field of genetics is so specific and so precise that knowing whether you have a genetic mutation, deletion or duplication immediately offers insight into the exact physiological mechanisms at play, which gives a much clearer picture as to how these disruptions are contributing to specific challenges. It becomes immediately clear how these disruptions interfere with the homeostatic mechanisms designed to insure the smooth running of bodily systems and why children with genetic syndromes struggle with various forms of self-regulation. My son, for example, after being diagnosed with Smith-Magenis Syndrome, was finally understood appropriately in that many of his negative behaviors were not the result of willful defiance but were the result of a physiological response to an “inverted” circadian rhythm, which his genetic deletion creates, where he releases melatonin during the day and not at night. So, many of his tantrums were because he had just had a melatonin release and so he was physically not able to meet the demand that had been placed on him, because of the overwhelming fatigue he was suddenly experiencing, not because of willful defiance! Learning the reason behind his defiance was a game changer! We were suddenly able to work with him, because we understood him, rather than continue to work against him, because we just didn’t know, and he didn’t either. Thanks to Greenwood Genetics we will NEVER have to NOT “know” our son again, and he will NEVER have to feel UNKNOWN again! To a mother, there is no greater gift and no greater blessing, than to feel you have been able to be your child’s voice in this world, especially when they don’t have a voice. This is what Greenwood Genetics does each and every day for families, just like mine…they give mothers and fathers, grandmothers and grandfathers, aunts and uncles and anyone who cares for someone who navigates the world differently a voice, by telling them, ‘We hear you loud and clear and, now, the world is going to hear you, as well, and you’re going to start being listened to…because, now, you have a voice because your condition has a name!’ That is why I am so honored to serve on the GGC Foundation Board, where I can help support the GGC’s work of giving voices to the voiceless!”