For Diane Benke, concerns about her son Alex's growth began when he was around 7 years old. Although Alex measured near the 50th percentile for weight, his height consistently hovered around the 20th percentile. Benke's instincts told her something was not right. Despite repeatedly asking their pediatrician if this could indicate a deeper issue, she was reassured that everything was fine, partly because of her own height of 5 feet.
Initially, Benke tried to dismiss her worries, considering that Alex was one of the youngest in his class and might simply be a 'late bloomer.' However, as Alex progressed through elementary school, particularly in the 4th and 6th grades, his height percentile dropped into the single digits. The height difference between Alex and his peers became impossible to ignore. Despite her growing concerns, their pediatrician continued to assure them Alex was fine, stating that as long as he was making some progress on the growth chart, there was no need to worry. Yet, Benke noted, they were never actually shown the charts.
It wasn't until a friend confided that her own daughter had recently been diagnosed with Pediatric Growth Hormone Deficiency (PGHD) that Benke decided to seek an endocrinologist. Although it took several months to get an appointment, they were determined to find answers. Once Alex was seen by a pediatric endocrinologist, he underwent a series of evaluations, including bloodwork, a bone age X-ray, a growth hormone stimulation test, and a brain MRI to rule out pituitary abnormalities. The results confirmed PGHD, a rare condition affecting an estimated 1 in 4,000-10,000 children, where the pituitary gland does not produce enough growth hormone.
Common signs of PGHD include being significantly shorter than peers, slower growth rate, delayed puberty, reduced muscle strength, lower energy levels, slower bone development, and delayed physical milestones. For Benke, receiving the diagnosis was a relief, providing clarity and a path forward. Treatment for PGHD has historically involved daily injections of somatropin, a synthetic growth hormone. However, since 2015, long-acting growth hormone (LAGH) options offering once-weekly dosing have become available. Benke's family faced additional hurdles with insurance, which required trying a daily medication before approving a weekly option. Alex spent three months on daily medication, often missing doses, before being approved for a weekly treatment. The switch made a positive impact, minimizing disruptions to their daily routine and ensuring Alex has not missed a single dose since.
Benke advises other parents to trust their instincts and seek out specialists if something feels wrong. Early diagnosis is crucial, as treatment becomes less effective once a child's bones stop growing. She encourages persistence even when faced with hurdles, emphasizing that it is a journey worth fighting for. For parents concerned about their child's growth, a doctor discussion guide is available at GHDinKids.com to help prepare for appointments.
