Evelyn will turn 5 in March! She was less than a year old when she received her TUBB3 diagnosis, variant R262H. When she was born, she had to stay in the NICU for a month, because she was having trouble breathing. She had to have surgery to place a tracheostomy tube and g-tube before she could leave the hospital. The mutation has caused a lot of symptoms, including vocal cord paralysis and laryngomalacia, optic nerve hypoplasia, congenital fibrosis of extraocular nerves, ptosis, strabismus, facial palsy/weakness, congenital digital (finger) contractures, dystonia, and central sleep apnea. She’s had two eye surgeries to try and help her strabismus and ptosis. She wears specialty contact lenses that were designed for her, and they help lift her eyelids up and improve the ptosis. She’s also had two surgeries on her left hand to relieve the contractures in her fingers. As she’s getting bigger, her mobility has become more of a concern. She’s making great progress! But our house is not wheelchair accessible due to stairs. She’s still not too heavy to carry, but as she gets bigger, we’ll need to find another way to manage. Also, due to the number of doctors she sees, it can be very difficult to make sure everyone is on the same page. She sees specialists at different facilities, and many times they can’t communicate with each other. To help with this, I keep a journal of all of her appointments and what we discuss, and I save doctor’s notes from each visit. If there’s information that needs to be shared with another doctor, I can refer back to my notes or her medical record. Even though she’s been through so much, and has never-ending doctor’s appointments and therapies, she’s one of the happiest girls you’ll meet! She loves going to preschool and seeing all of her friends. This year she got to start full-day preschool, and she has a blast! We were worried about her going to preschool, but it has been one of the best decisions we could have made. She’s come out of her shell so much and is thriving! This year she also got a speaking device and speaking valve to help her communicate. She is a smart cookie, and even if she struggles, she finds her own way to do things or say things to help others understand her. She wears AFO’s on her ankles to help with walking, and is able to pull herself up into a standing position all by herself! She enjoys using her gait trainer at school, and her friends are always encouraging her. Her favorite book is “Goodnight Moon,” because she likes to point out the red balloon and count the little bears sitting in chairs. She absolutely loves to help and be involved with what is happening around her. Even if it’s wiping up a spill or folding laundry, she wants to do it too! We love watching her grow and hearing from her teachers how special she is! We love our Evie Lou <3
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