They call it the “rare diagnostic odyssey”. It’s the number of years patients and families search for an answer. From the time the first symptoms appear until the time when an accurate diagnosis is received, it is an average of 8-10 years. For most families, this means hundreds of doctors appointments, tests, lab draws, isolation from friends and family members and years of being labeled as “crazy” or “that parent”. This was our story as well. Allie was diagnosed at the age of 8 ½ with Turner syndrome. A rare genetic condition that only affects females when they lose all or part of their second X chromosome. The loss in chromosome results in short stature, ovarian failures, kidney and heart malformations, non-verbal learning disorders and a number of other medical conditions.
Our hope is that the next amazing young children and families impacted by rare disease will have a different “rare experience” than those of us that came before them.