Frankie’s story is not a familiar one and thus needs to be told. After a relatively normal pregnancy, Frankie Gray Gilman was born on August 13, 2009. She was a bright-eyed, typically-developing baby. That is until somewhere around the time she was six months old.
We noticed her left eye was turning in like a cross-eye fashion. This condition is called Esotropia. She also showed signs of Hypotonia or low tone. She was not getting stronger and her movements were slightly shaky. The doctors call it Ataxia. Even so we were not too concerned because the doctors did not appear to be concerned.
We, as well as several in our family, believed the delay was due to her eyes. Armed with this belief we consulted a Pediatric Eye Surgeon. She had corrective eye surgery in October of 2010 when she was fourteen months old. Still, we continued to see changes and inconsistencies in her developmental growth. Some were quite subtle, some were gradual, and others seem to have happened overnight.
By the time she was two and a half years old we could not deny that something more serious was going on. Her movements became more Parkinson-like. Having started to develop a vocabulary early-on, she just lost her words and her desire to even attempt to speak. She began to have seizure-like episodes and it took all she had just to sit on the couch. Even with these changes, her MRI’s came back normal. However, her EEG’s showed abnormal. As time progressed her Doctor’s, Specialists and Therapists seemed to become more and more perplexed.
It was about this time that I had learned about Rett Syndrome in a Human Development class I was taking. When we suggested they run this blood test, all of our support team said ‘that’s not what she has’. For two more years we went down other paths in search of a diagnosis.
Finally, after much persuasion from us, our Neuro-Geneticist ran the test we originally had requested. The test came back positive for Rett Syndrome, a rare but serious genetic disorder. Rett Syndrome is a micro-deletion on the MECP2 gene.
The Doctor’s confirmed the diagnosis on October 11, 2013. Interestingly, October is Rett Syndrome Awareness Month. We guess it seemed fitting. Her diagnosis was not surprising to us, but it was devastating none-the-less. We won’t give up hope. There are different levels of Rett Syndrome and we will work to recognize them and deal with each as best we can. We have come to accept that our lives are forever changed.
What is life like for Frankie? Picture this: a child who cannot walk, talk, will never be toilet trained, sleeps poorly, has no true control over her own body or behaviors, has tremors, frequent emotional upsets as well as fits of laughter, and no awareness of safety. She will need a lifetime of constant help and supervision.
Despite all of this, she is also incredibly loving, affectionate, beautiful, smart and hardworking. She has a laugh that could brighten the darkest day. Her day to day life is unpredictable, and full of surprises. We celebrate every small victory. However, this doesn’t begin to capture the challenges she faces nor does it give the complete picture.
We have found countless blessings and lessons along this bumpy road, with many more to come. Frankie has given us and all whose hearts she touches the amazing gift to practice patience, tolerance, courage, compassion, strength, perseverance, intention, beauty, and most importantly; unconditional love every day. Look closely at that chubby face; those beautiful blue eyes that speak volumes and you will see beyond Rett Syndrome to a free- spirited silent angel – our girl, Frankie.