According to Global Genes’ Rare Daily, Alexi’s mother always knew her child was different. It would take almost nine years to find the proper ADNP diagnosis, but Alexi’s mother never gave up.
When Alexi was born, her mother was mesmerized by her soft cry, weak grasp, and tiny feet. In some respects these were hallmarks of infant beauty, but Alexi’s mother couldn’t shake a feeling of concern. Doctors, though initially skeptical, eventually deemed their doubts unfounded, and vouched for Alexi’s health. The best diagnosis the family could get was “low functioning autism.”
Over a year of chronic breathing difficulties, several hospitalizations, and five years of a sleep disorder, the theory that Alexi’s condition was simply a developmental delay became weaker and weaker. Doctors that saw her as a patient would show temporary concern, but it was her mother that persisted in seeking treatment and truth. It became increasingly difficult to work through the complexity of the US medical system without a diagnosis.
Alexis’s family sought further aid through testing with the Mayo Clinic and one of their specialty teams. Even with the Clinic’s advanced tests and genetics, and week’s of waiting, the best result they could give was that Alexi suffered from a very rare, yet still unidentified genetic condition.
Having exhausted all possible tests, and feeling exhausted from tests, Alexi’s family decided to spend their time and money on rehabilitation and care instead of further examinations. Alexi had severe growth deficiencies, loss of speech, and poor motor development. As she grew older, Alexi became increasingly frustrated with these symptoms as well.
In the midst of these developments, and struggles, the family reached out to Ambry Genetics in a final effort for a diagnosis. It seemed impossible that after eight and a half years someone would suddenly find a diagnosis, but Alexi’s mother couldn’t accept that Autism was the sole cause of her daughter’s pain.
In nearly nine years of searching, Alexi and her mother had never once found another child with Alexi’s symptoms. After all that time and struggle, a curious and diligent physician submitted Alexi and her father’s blood for genome sequencing. The result was the revelation that Alexi was one of ten children at that time diagnosed with her specific genetic mutation.
ADNP affects a key protein responsible for brain growth. Without the affected gene, the brain simply cannot develop. Frightening as that may seem, with a diagnosis in hand, much more became possible, and hope was restored to Alexi and her family.
Alexi’s mother has gone on to connect with other mothers, patients, and doctors. The diagnosis allowed not only more effective treatment and care, but also the groundwork for a growing community of advocates.
