Olympia -Aptly named as a champion before she was born.

 shared by Olympia’s mom, Chiara

 Olympia came to this world, together with her twin brother, Albert, as a surprise for us.

Olympia was born perfect, no issues whatsoever during pregnancy or birth, she was rosy, fully awake, curiously looking around in the delivery room, not even a C section was necessary for her, she was full term. She latched right away, and she was breast feed until approximately 9 months of age. The only thing I noticed during her neonatal days was that she would choke on milk much more often than her brother, but we didn’t think much of it at that time, since she was eating very well and developing in line with standards.

I started to notice something odd when she was about 5 months old. She was very easy to startle; at that age, her brother was curious about objects, and he would grab toys that were offered to him. With her it was not the same, she was capable to grab, but she would react as if we were throwing objects at her, instead of offering them gently. She would over-react to objects and people coming close to her face. We thought she had vision issues, but no issues were found in her sight by doctors. She eventually outgrew the hyper-sensibility and continued developing. Between 6 to 12 months of age her motor skills were a few months delayed compared to her brother, she had less balance when sitting, and she could fall over from sitting very easily, sometimes by just being startled. Progressively her motor skill delays became more pronounced compared to her brother. Albert was cruising furniture by 12 months of age, while she was not even crawling at that age. Albert started to walk independently at 15 months, while she started to crawl then. I felt something was wrong, but doctors were not really worried. The pediatrician recognized she had some delays, but since she would eventually reach milestones, he was just telling us to wait and see. We even saw a neurologist when she was 9 months old, but no major red flags were raised at that time.

The Covid pandemic was at its peak in NY when she turned 1 year old (April 2020) and no in-person therapies were possible for us and remained impossible until April 2021. We temporarily relocated from New York to Wisconsin during the pandemic, to be closer to family. When in Wisconsin, I decided to investigate further her motor delays and I booked an appointment with Dr. David Shu (a wonderful pediatric neurologist) at the University of Wisconsin-Madison. She was about 19 months old at that visit, and again no major concerns were raised beside acknowledgment that she was definitely delayed in motor skills. Because of that, however, the neurologist agreed that some additional testing was advisable, so Olympia did a few routine genetic tests, a metabolic panel, and a thyroid test, all of which came back normal. The neurologist told us that at that point the only thing left to do was an MRI, but the procedure was usually done after 2 years of age in patients like Olympia, with not major issues. My mother’s instinct told me I had to insist to do it earlier, and so we did. The MRI was completed in March 2021 and from that day our lives changed forever. The MRI showed she had a Leukodystrophy, the names of Alexander Disease and Canavan were mentioned in the MRI’s report. That was the first time I heard the word Leukodystrophy, that was the day when the pride of all my dreams fell, when I saw the darkness of sorrow, when any sense of future shaded, that was the day I faced love, the bare form of it, unveiled from all the superficiality of built expectations. That day I became the true mother of Olympia. That day I painfully understood what it meant to be a mother.

After the MRI we were immediately referred to CHoP. On April 22, 2021, just few days after Olympia’s second birthday, a full genomic test, conducted at CHoP, confirmed she has Alexander Disease (AxD). She is not defined by it though, despite what most people think. She is a child that people and even doctors, after her diagnosis, 6 months ago, looked down with pity, not believing she would ever walk, talk, or have a meaningful life, I remember all those apologetic faces and the unconscious sense of bias I encountered along the way. Olympia, however, in her uncorrupted innocence, took no notice of it and started to walk and talk. She is simply Olympia; her life is hers to unfold. She is now a 2.5 year old sweet girl with big eyes and a sunny smile, who loves to be with other children at the park, who cannot resist to draw something if she sees a piece of paper, who enjoys climbing on the sofa to pet our cat, Maple. She is a sister who calls, with a trilling voice, her twin brother from her crib in the morning to guff around, until I show up to start the day and, if given a choice, she would always choose chocolate over anything else! I do not know what the future holds for us, I cannot promise her any type of envisioned, carefully planned life, no parent actually can, but I do promise her that I won’t ever give up on her and I won’t ever let anybody, not even myself, define what she is or can become.

AxD is a rare, ultra-rare, disease affecting very few individuals in the world. Even if we consider all the undiagnosed or misdiagnosed cases, it remains an extremely rare condition... this translates into the obvious and unfortunately unavoidable reality that the general public does not care and cannot even be blamed for not caring. Most people, including a concerning vast number of people in the medical field don’t even know what a Leukodystrophy is. Let alone AxD.

Life is not fair, true, some people, like us, are put in a position where mental, physical, financial, emotional, spiritual, intellectual, occupational and/or social life are devastatingly impacted. We might not be able to fix it, but we can react to it. Olympia is at the beginning of her path with AxD, although she is currently compensating well, she is not a supernatural being, somehow immune to the destruction of AxD. Realistically, if a working treatment will not be given to her soon, she will likely lose, dim, and possibly succumb to AxD. For me it is always a firm reminder that we are where we are now, with a potential treatment on the horizon, not just because of the cries, prayers, and lucky coincidences, but also and especially because of the tangible efforts of parents, patients, and caregivers who, despite the harshness of the diagnosis, did not accept it as a death sentence.

If we think we cannot foster our uniqueness, then we have forgotten how creative we were meant to be.

As just the mother of Olympia, what can I offer to her and to this community? I will offer my intuition, every gram of intellectual capacity I have, my perseverance and attention will be devoted to the fight against AxD. It might not be sufficient to win the battle, but my heart is in the right place, and it will make a difference, no matter how small.

One possible treatment is a great achievement, but this might not be the end of AxD. I hope with all my heart, mind, and body that the treatment will work and can be applied to all, but I hate to say it, if not, we need to be prepared for alternatives too. We need to still push for research, we need to find ways to buy more time using what is available, we need to develop more common knowledge, we need to start considering broader perspectives, advancements are not only made in US, breakthroughs are happening around the world, we cannot afford to disregard any detail. We cannot let our guard down now, even with a treatment in its human trial stage. Gene therapy or other solutions might be futuristic at this point of time, but might not be in 5 or 10 years, however if we don’t start planting the seed now, in 5-10 years nothing will come to us.

I say: let’s learn from our children, pure from preconceptions, let’s learn from the fairy tales we read to them. They are true not because they tell us that dragons exist, but because they tell us that dragons can be beaten, and you don’t necessarily need to be a knight to do it.