February 2020

"Kinlee will be 4 years old Feb. 27, she is my granddaughter that I have had custody of since birth. I also have had her sister since birth, and she will be 6 in June. I am a pediatric nurse and noticed Kinlee was not holding her bottle, rolling over, sitting up and reaching many milestones in a normal time frame. She started speech, physical and occupational therapy around 20 months, MRI’s, EEG’s and genetic testing at 2. The first MRI showed some abnormal development, the EEG showed consistent silent seizures. We repeated the MRI a year later that showed normal and the EEG was still abnormal. On September 25, 2019 after many genetic tests the geneticist ordered a Trio Xome Sequencing. On January 9, 2020 we got the results that test showed a mutation in the WDR45 gene. She was diagnosed with Neurodegeneration with Brain Iron Accumulation (NBIA), there are several types and she has Beta Propeller Protein Associated Neurodegeneration (BPAN). Even with her developmental delays I never expected to receive such devastating results. Kinlee did not start walking until she was 3 and has progressed so much in the past year. She can only say about 6 words that I can understand but trust me she knows how to let you know what she needs. She is now on Keppra for the silent seizures, enrolled in special education at school, in all therapy groups and we just give her all the love we can. Kinlee is smiling when she wakes up and when she goes to bed, always happy and playing, she is a blessing and so is her older sister that loves her dearly and helps take care of her. I pray every day for a cure, and I know it is in God’s hands."


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