Alice's mom reached out recently checking in on our progress. Gwen shared her beautiful rock art, this picture is the first she did to commemorate her beautiful daughter Alice. I asked Gwen if she could share her story about Alice, this is what she had to share:
In 2010, my then-wife Lonnie Hardage and I wanted to add to our large family of birth-kids and adopted-kids. Our adoption worker showed us a picture of a brother and sister. ages 6 and 4, who needed a forever family. When we met these dear children they were both developmentally delayed and the little girl had some balance issues that looked to me like cerebral palsy (I am a pediatric OT and SLP). I thought, "We can certainly handle this, and she'll have company, because one of our other kids has CP."
Alice and her brother came home and she blossomed, learning to walk with less falling, starting to talk, feeding herself, and almost being toilet trained. Then suddenly, at age seven, she started losing ground in her abilities. Lonnie took her to a neurologist who hospitalized her for tests; the next day the verdict came: not CP, but rather TUBB4A leukodystrophy, H-ABC. Shattering news, although at that point we could only find record of about 14 other children who had this (the founding families of the H-ABC Facebook group) so it seemed as though there must be things doctors didn't know yet; they couldn't possibly have formed rigid conclusions with such a small sample of children. We did not want our hope to be dashed. Gradually Alice lost skills. She needed a walker and we pulled her out of the first grade class at the Waldorf charter school without ADA-compliant ramps to her classroom. Soon she needed a wheelchair. Her ability to talk was nearly gone, so we tried first a fancy AAC speech-generating device with "robust capabilities for language"-- but it was more than she could understand. We ended up using a paper communication book of PODD (Pragmatic Organization, Dynamic Display), which Alice and I became really good at using together; she could even make up stories with it. Unfortunately, not many other adults came to enjoy using it well, so Alice had limited conversation partners.
Alice had surgery to get a g-tube (which we combined with a reduction of her salivary glands, hoping she would drool less). In hindsight I would not have done that, because the remaining salivary glands seemed to overcompensate, and much drool soon continued. She joined a special day class at the local public school. Through all these changes Alice maintained her joyful attitude toward life and her wish to love and be loved. She was the queen of hugs and loved to be playfully mischievous or involved in a marathon of "hide and seek." She had a crush on the teenage boy across the street. If she cried and I made her laugh about something, she would seem to forget that she had been sad or mad. At first I worried this was not fair for her emotional development, but as she lost ground I decided it wouldn't be detrimental to relieve her discomfort with a tickle or silly face. Lonnie and Alice attended a gathering of families coping with H-ABC in Philadelphia in October, 2014, where she was thrilled to meet other children like her and where she had a consult with Dr. van der Knaap. There was hope, research was beginning, and more and more children with H-ABC were being identified.
Alice loved her social life at school and hated to miss a day. Even when she began to develop intractable body pain she wanted to go to school. Lonnie was on the phone with doctors daily, getting stronger pain medicine that still didn't reduce the aching in her body. On her last week of life she attended school on Monday and Tuesday, stayed home sick Wednesday, and went to the ER on Thursday where they finally gave her a sedative strong enough to let her sleep. She did not wake up from this sleep. Alice died Friday, August 30, 2019 at age 13. My belief is that her body wore out from fighting the pain.
Rest in peace, Angel Alice. And may the search for treatment for H-ABC continue until an accessible, affordable, internationally available cure is found!
