Rare Disease Day: One Mother’s Journey From Despair to Acceptance

I knew regardless of Grace’s prognosis, my job as her mother would remain the same.

By Abby Loudermilk
Grace’s Mom

Like many first time mothers, I read articles and books on “What to Expect.” Although Grace was smiling, laughing, nursing, and healthy, I began to grow concerned that she wasn’t hitting her developmental milestones. Wasn’t she supposed to be sitting up by now? Shouldn’t she be trying to crawl? Why were my friends’ babies passing her up developmentally? Around six months, I remember looking up when babies were supposed to be sitting independently. The article said that most babies sit on their own between four to seven months. Ok, maybe she’s a late bloomer. What I didn’t grasp as a first-time mom, with no frame of reference was that not only was she not sitting she wasn’t even close to sitting.

I called Grace’s pediatrician about a month later. The nurse asked me “Well can she sit at all? Like in a highchair?” I responded, “Yeah.” She said it’s probably nothing to worry about — she’ll probably catch up.

At Grace’s nine-month checkup, the pediatrician’s response was much different. She said that Grace has hypotonia. The visit was a haze. Cerebral palsy. Muscular dystrophy. Genetic Defect. Angelman’s Syndrome. I saw a look of sympathy in my pediatrician’s eyes that I didn’t want to see. What I wanted to hear was that this could be “normal” and everything might be O.K. I left in tears, the emotions collapsing in on themselves.

Grace began to visit specialist after specialist. Test after test was performed. But there were never any answers. Each new visit would grab my heart and squeeze. Same questions, same answers; another reminder that my daughter was not “normal.” The depression would come in large powerful waves that would fling me into that dark place in my mind. I didn’t know what the WORST case scenario was exactly, but it certainly seemed like the best case scenarios were running on the slim slide.

By the time we received Grace’s diagnosis over two years after that checkup in the pediatrician’s office, I emotionally reached a place of some acceptance. I knew intellectually that a diagnosis changed nothing but my knowledge of the situation. I knew regardless of Grace’s prognosis, my job as her mother would remain the same—to love her unconditionally and to help her achieve the best that she is able.

Just before Grace turned three, we went to visit with Dr. Scott McLean at CHRISTUS Children’s Genetics Clinic, for the results from the Whole Exome Sequencing (WES). We were told Grace had CTNNB1 Syndrome; that this was almost assuredly the cause of her delays. The mutation was in her DNA transcription 999 letters into sequence on one gene segment Grace had a different letter than she should have. Because of this, Grace’s body only produces half of a protein called beta catenin; a protein evidently necessary in almost every function of the body.

Only a few kids worldwide had the diagnosis. Intellectual disability. Sometimes they talk. Sometimes they walk. Possible autism. I was floored. That dark haze came over me again. That haze of the worst case scenario. There was no case where the kid “outgrew it” or went on to live a totally normal life. With the diagnosis came an answer but with that answer I felt like hope had been dealt a substantial blow. Or maybe it wasn’t hope, maybe it was just denial. Whatever it was, it was a difficult pill to swallow.

I went online and joined a Facebook group for parents of children with this diagnosis. We have more than 100 members in our group now from all over the world. The parents have started a grassroots movement and just recently achieved non-profit status for CTNNB1 Syndrome Awareness Worldwide (CSAW). I am the executive director and general counsel for the nonprofit. One of the dads designed an awesome website to connect families, create a registry, and reach out to scientific community.

I pour through research and try to understand what is clearly above my paygrade. What drugs are available for induction of beta catenin? Is CRISPR a long-term solution? Stem Cell Research. Gene Therapy.

I don’t know. I don’t even understand what I’m reading. I don’t know if there is a medical “solution” to my daughter’s diagnosis. Or rather I don’t know if that solution is forthcoming and if it will be “too late” for Grace. I don’t know if that’s a pipe dream. I do know that feeling sorry for myself or my daughter isn’t an answer though Grace is a sweet and happy child. She works really hard and is driven to get stronger and to learn. She loves riding horses in her equine therapy and she LOVES balls. She’s funny, loving, and other children are drawn to her, probably because of her infectious belly laughing.

I accept that barring a medical miracle that much in life will always be more difficult for Grace. I do not, however, accept that intellectual disability means that she can’t learn. Grace keeps progressing, she keeps growing stronger, more interactive, more aware. And likewise, so do the people who love her.

About Rare Disease Day

Please join CHRISTUS Children’s as we raise awareness for Rare Disease Day. Rare Disease Day occurs on last day of February every year with the main objective of “raising awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.”¹

More than half of Americans affected by rare diseases are children.¹ Most of these rare diseases have an underlying genetic cause. The Genetics Clinic at CHRISTUS Children’s works with patients, families and clinicians to help with the diagnosis, management and treatment of patients with rare diseases. To learn more about the Genetics Clinic, click here: CHRISTUS Children’s Genetics Clinic.