'My 5-Year-Old is Amazing at Basketball—But He Has Childhood Dementia'

In January 2013, I was diagnosed with triple negative breast cancer; a highly aggressive cancer where cells reproduce so rapidly my oncologist told us that on the aggression scale, my cancer was 8 out of 9. He recommended starting chemotherapy treatment as soon as possible: three weeks later.

I was 36 and my husband was 33 at the time, and we had been planning to start a family before my diagnosis. So, we saw a fertility specialist before any chemotherapy began. It turned out that it would take a minimum of 10 weeks to harvest my eggs, and we subsequently made the decision that if there was no me, there would be no child.

I started chemotherapy as recommended, followed by surgery and radiation that went on until the end of September 2013. The treatment was effective and I have had no signs of cancer since then, which is amazing.

Yet the treatment left me with significant side effects, one of which was infertility. It devastated us because the likelihood of having biological children was slim to none. In the months that followed, I constantly envisioned this enormous gumball machine full of white gumballs, with one blue gumball in the center that you couldn't see. That blue ball represented the egg that would create our baby.

By complete surprise, two years later, I got pregnant. Because of my cancer history and age I was considered high risk, so I was highly monitored, had frequent ultrasounds and had taken a basic level of genetic screening: our baby looked healthy.

Simon was born in May 2016 and the first time I saw his little face come up over the C-section curtain I cried because I thought he was beautiful: our one and only miracle child.

Simon seemed healthy, but breastfeeding was a "square peg in a round hole" situation; he did not seem to have the ability to learn to suck and it was extremely painful. I know some women have difficulty breastfeeding, but it was excruciating, so after 10 weeks we switched to formula.

As his first year of life continued, Simon seemed to be happy and engaging. His eye contact continued and he was extremely present. But as the months went on he wasn't hitting developmental milestones. He had difficulty with rolling over until 10 months of age, he didn't say his first word until he was 15 months and he didn't take his first step until he was 17 months old.

However, at around 10 months of age, Simon started manipulating toys and objects in a very peculiar way; he started spinning them and he was very good at it. We wondered then if he was on the autism spectrum; it was very confusing. By his 12 month wellness check, Simon still wasn't using gestures or able to point. We realized we needed help to discover the cause of his significant delays.

Our pediatrician referred us for occupational, physical and speech therapy and gave us a checklist of specialists to see, including a developmental specialist, a neurologist, a pediatric ENT, an audiologist and a cardiologist. The final specialist we saw was a geneticist who completed various tests, but in the meantime, we had continued different therapies.

In October 2018, when Simon was 2.5 years old we had another appointment with the developmental specialist we had seen six months before, and Simon really blew us away. He had come so far. We were driving home afterwards in the rain, feeling so pleased. But that night in the paperwork we had been given, I discovered Simon's diagnosis of Sanfilippo Syndrome and that the date of onset was at birth. I was shocked. I had gone to every single appointment and hadn't heard it mentioned. My husband and I looked it up online after putting Simon to bed and I remember just bawling my eyes out, thinking that it had to be a mistake.

Sanfilippo Syndrome is a rare, fatal, neurodegenerative condition. It is a type of childhood dementia and about 1 in 70,000 children have it, but there is no cure and devastatingly, those who have it will die as children, or as teenagers at best. Children typically plateau in their development as toddlers, and then very rapidly lose their ability to walk, talk and eat and pass away shortly thereafter.

That night, I remember crying until dawn. We were crushed. Simon is our one and only miracle child and to think of losing him within a few years is heartbreaking. The next day we contacted the Cure Sanfilippo Foundation, which was founded by Glenn and Cara O'Neill after their daughter Eliza was diagnosed with Sanfilippo Syndrome in 2013. They were amazing and have been an incredible support ever since.

Around that time, we also noticed that Simon had started trying to shoot hoops in a kids basketball hoop we had bought him six months prior. His hand eye coordination and ball handling skills were shockingly advanced, so we started filming his progress.

Simon thrives on praise and I'm his biggest cheerleader; when he does something amazing or puts effort into trying, I get so excited. I think he realized he was getting lots of praise for shooting hoops and was pretty good at it so he should continue! We have had people say that they don't know what brings them more joy, to watch Simon make the shot or do his happy dance afterwards. There is a visceral joy that is released from his body. Cara O'Neill of the Cure Sanfilippo Foundation is a pediatrician and an expert on the condition and she has said that Simon's basketball skills are a savant skill that she does not believe is connected to Sanfillipo. It is just extraordinary.

Simon doesn't enjoy watching basketball on television, but he loves watching it in person. There is a hike and bike trail near our house that we take Simon on regularly and we always pass by at least two outdoor basketball courts. We'll stop and watch and Simon will vocalize his excitement. He's limited to one to three word phrases, but he'll always say something like "yay!" or "try again!" He'll just shake with excitement. Most adults learn to restrain our emotions, but Simon doesn't restrain himself, his emotions are expressed in this shaking joy. We'd love to take Simon to a game, and we have been offered tickets to a University of Texas game and a San Antonio Spurs game but both were in the evening. Simon and other kids with San Filippo have a tremendous challenge with sleep and behavior if you don't keep regimented sleep schedules. But if we can make a day game on a weekend, for example, that would be lovely.

Now, Simon is 5.5 years old and developmentally, we estimate he is at the age of a three year old overall. There are challenging areas; he needs help with dressing, eating and toileting. He can do some parts of each task independently and other parts he will need assistance with. So, our mission is to raise $1million for clinical trials. There are four subtypes of Sanfilippo Syndrome, ranging from most common to most rare: A, B, C and D. Simon is type B. There are trials happening for children with type A, but we want to pursue trials for type B kids. The trials we are hoping to raise funds for involve neural-stem cell transplants which have neuro regenerative and restorative possibilities and "a molecular tweezer" that is showing promise for improved neuro-cognitive functioning.

Overall, Simon has seemingly reached his plateau, which is why time is of the essence. If he has plateaued, we know what comes next. At some point he's going to start losing his skills and that is terrifying. There is so much Simon struggles with that many of us take for granted and every single day we wonder if this is the last time we will see him perform a particular skill or task. But, we are so happy that he has this skill in basketball that brings him so much joy.

Alina Croke and her husband Jeremy live with their son Simon in Texas. You can find out more and donate at helpsimon.com.

All views expressed in this article are the author's own.

As told to Jenny Haward.