Selene

… She began to tell us how incredibly rare the syndrome is and they really didn’t know how many people were affect with this. The situate said 1,200 world wide. Meaning it’s a one in 5 million chance. She explained that Ryan and I are both a carried of a different ALMS1 gene and we passed both of our copies onto Selene. Children are only affected if they receive both genes. It explained the heart failure which is now categorized as Dilated cardiomyopathy. But then she went on…She will progressively lose her vision till she is blind, she will progressively lose hearing and in the most complex cases children need a cochlear implant, she may have insatiable hungry that leads to childhood obesity, she may develop insulin resistance, type 1 diabetes, slow and progressive kidney dysfunction potentially leading to kidney failure, additionally lung, liver, and endocrine dysfunction can occur. We were devastated and heart-broken that our perfect little girl would have to endure so many difficulties in her life. Being diagnosed at 12 weeks old makes Selene one of the youngest, maybe the youngest, child to be diagnosed with Alstrom. We got this diagnosis 2 1/2 years ago and I am just now finally able to talk about it without breaking down every time. Some days are more difficult that others. Some days I’m stuck in my head thinking about the future and all the bad things that could happen, thinking about losing her or that her heart will fail again or that she’ll stop breathing. Others days I am strong and face it head on teaching Selene braille and doing sensory activities. Some days I think I have accepted it then others I am a mess. I know I will find peace with it in time and taking this first step to be more open about it will help. I am hoping to raise awareness about Alstrom Syndrome. It is an incredibly rare disease that most people, doctors and health care workers included don’t know about. Selene is one of about 3,000 out of 7.9 billion people on the planet born with this syndrome. I am sharing some photos of our stay in the PICU #QueenSelene #AlstromSucks

 

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