After years of fertility treatments, miscarriages and medical complications with pregnancy, we assumed our struggles were over after Rosie was born. She had 10 fingers and 10 toes, so all was right in our little world. Yet things changed rapidly in a matter of weeks as she began to profusely vomit, unable to get milk into her stomach. Her weight stagnated and soon the alarm bells were ringing.

We embarked on a long and grueling diagnostic journey. Feeding therapists, pediatricians, multiple pediatric GI specialists and nutritionists were all perplexed and unsure of what was causing all her feeding issues. It became clear that Rosie’s energy level was dropping; she was unable to lift her head and do the typical infant routines like ‘tummy time.’ It was terrifying to watch her struggle to get enough nutrition to even survive. For eight months Rosie was in and out of hospitals undergoing tests, procedures and surgeries, including the placement of a feeding tube. It was almost unbearable to witness our baby’s pain, the most unnatural of human experiences.

But those battles eventually led us to answers. Rosie had a GI condition called achalasia. That’s why she couldn’t get milk into her stomach. But babies don’t get this condition. It was generally only seen in adults and even that was rare. What was causing this? We headed to genetics to hunt for a needle in a haystack. Other pieces of the puzzle developed as well. Rosie never cried tears, her eyes were extremely sensitive to light, her muscle strength was very low, and she continued to miss developmental milestones month after month. There were numerous neurological concerns. We existed in a perpetual state of anguish. Months dragged on as we waited for the results from whole exome sequencing, the equivalent of a widely cast genetic net to catch any abnormalities in the protein coding portions belonging to Rosie. With this testing we finally got an answer to what exactly was causing all of her ailments.

We were devastated. It was an ultra-rare genetic disease called GMPPA-CDG. Rosie was only the 22nd case ever documented with this disease in the entire world. No treatments exist, and there is no standard plan of care. It was one of our darkest days, but it also lead us to hope. Hope that we could navigate these uncharted waters empowered by knowledge, a diagnosis. A diagnosis that would be the starting point to guiding our medical care team to give Rosie the healthiest life possible. A diagnosis that has lead our non-profit bloom for a cure’s research to find 6 existing drugs that could be used to treat GMPPA-CDG.

But it all starts with a diagnosis and the support of a medical home, exactly what WARD’S Foundation is building right here in Charlotte.

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