In My Story, readers share their unique, life-changing experiences. This week we hear from Richard Poulin, 40, who currently lives in Bangkok, Thailand.
My wife and I accepted new teaching jobs in Singapore. Before leaving America, we proudly showed our newborn daughter, Rylae-Ann, to family. All was right in the world, and we eagerly boarded a plane to begin our new life.
However, when Rylae-Ann was three months old, we saw signs that all was not right.
She was missing developmental milestones. We would play games to encourage her to reach out, do exercises to practice sitting independently, and give massages to coax her to engage her core muscles. But nothing seemed to work.
One day my wife, Judy, went to look for homes while I stayed back at the hotel with our daughter. During one of the sessions, Rylae-Ann tensed her arms and legs. Her eyes briefly crossed, and her tongue made a thrusting action.
Despite it lasting a few seconds, I was concerned. I attributed it to my pushing her too hard, causing muscle cramps. I tapered my eagerness for my daughter to progress.
The fleeting actions caused enough concern that I did some Googling. I did not dare tell Judy. I didn’t want her to start worrying.
I came across an article about a girl with a deadly ultra-rare disease. I admonished myself. I had become one of those parents who Googled symptoms and ended up with an obscure diagnosis for my daughter. I closed my laptop and tried to focus on my family’s new life in Singapore.
Over the next few months, our lives began to unravel. The tensing of muscles in our daughter’s tiny limbs became more intense and lasted longer; it was the only time we ever saw any movement from her.
We began to refer to them as ‘spells’. These spells came every three days like clockwork. She had trouble staying asleep. When she was awake, she looked sleepy and constantly cried.
Rylae-Ann’s developmental milestones remained paused at the three-month mark. She couldn’t hold up her head, she did not reach out and grasp things, and her eyes remained tiny slits. The photographer commented on her sleepy look when we got her identification card.
We went to doctors who reassured us that babies develop at different rates. But as the spells’ intensity and duration grew, we could no longer sit idly by. We began visiting more doctors and researching.
One rainy night, the spell lasted longer and was more intense – we were filled with fear. We rushed out of the door to the car we’d booked on a ride-sharing app and headed to the nearest hospital. I willed all the lights to turn green while Judy cooed softly into Rylae-Ann’s ear. Once we arrived, the nurses did an assessment and put our daughter at the front of the triage line.
They gave our daughter diazepam for fear she would have another seizure. A doctor came and assigned an initial assessment of epilepsy. The doctors admitted Rylae-Ann, and we were separated from her for the first time.
Judy and I discussed the diagnosis when we returned home to get clothes and necessities. What the doctor was telling us didn’t seem right, mainly because we thought what the doctor saw as a seizure was something else due to its three-day cyclical nature.
After a barrage of tests, the doctors said she had epilepsy. They prescribed her medication, and we went home. But her symptoms did not improve. The medicine left her sleeping all day and she felt lifeless when we picked her up – we stopped the drug after a few days.
We continued to visit the doctor, trying to explain why we thought it wasn’t epilepsy. Despite genetic testing, blood tests, EEGs (which record brain activity), MRI, CSF (cerebrospinal fluid) tests, and more coming back normal or inconclusive, the doctors did not change their diagnosis, so we went to other doctors. We even travelled to other countries searching for answers.
As we collected second opinions, we improved our description and came armed with digital evidence. Doctors had different opinions, including epilepsy, dystonia, cerebral palsy, and other neurotransmitter disorders. However, no definitive answer came.
Our daughter was regularly admitted to emergency care during the onslaught of medical tests. We were always in the hospital, so much so, the nurses knew our daughter by name. Most were lung-related issues such as aspiration, pneumonia, and collapsed lung. But also, a typical childhood viral infection would cause her to be extremely weak to the point that the doctors required her to be in intensive care.
Answers never came. Instead, a random Facebook post about a child with similar symptoms caught the eye of Judy’s older brother. When Judy shared the article with me, it triggered a memory of a post I saw earlier.
The name AADC stuck with me because of its similarity to a classic rock band. I remember the article discussing the extremely rare disease, affecting around 130 people worldwide since 1990.
I explained how it was improbable. However, Judy pointed out that although it is an extremely rare genetic disorder, many of the children were from Taiwan, where her parents are from.
AADC deficiency is a rare disease that causes a mutation in the DDC gene. This gene instructs the body to produce the AADC enzyme, which is responsible for dopamine and serotonin.
Children with AADC deficiency have little or no dopamine and serotonin. Both are responsible for several critical bodily functions to sustain life and movement.
That night, alarms were going off in my head. I sat up in bed and went to work, reading research papers about the disease. The more I read, the more I knew our daughter had this. One glaring reality was that children with this disease die early in life due to the severity of the symptoms.
One of the reports talked about how a doctor in Taiwan had completed clinical trials for an experimental, innovative treatment. There was no word if the treatment was available, but I knew we had to visit this doctor.
Judy’s younger brother still lived in Taiwan, so we asked him to make an appointment as soon as possible. The next day he told us we had an appointment booked a week later, the day after Christmas.
We packed our bags and landed in Taiwan on Christmas day. That night, Judy and I sat at the park drinking a small bottle of vodka, trying to process how we went from cloud nine, to falling from a cliff, to Hell over six months. As the bottle’s contents disappeared, I promised my wife we would never have a Christmas like this again.
On the day of our appointment, we met the doctor who was surprised to receive patients thinking their child had a rare disease – and even more surprised at our knowledge of the disease.
After a short observation and using the information we provided, the doctor felt confident that our daughter did, in fact, have an aromatic L-amino decarboxylase (AADC) deficiency.
“The doctor felt confident that our daughter did, in fact, have an aromatic L-amino decarboxylase (AADC) deficiency.”
I asked if the treatment in the article was available. We held our breath. “No,” he replied. Tears welled. “But, there is another clinical trial recruiting. However, it is only available for Taiwanese.”
“She is Taiwanese!” we screamed. We had recently applied for her citizenship. Although Judy is Taiwanese, she never lived there. We grew up in Thailand, where Rylae-Ann was born. Rylae-Ann only had an American passport, but her Taiwanese passport would soon be ready.
She enrolled in the clinical trial for a new exploratory treatment known as gene therapy. However, she had to wait 11 months to begin treatment – another year of trying to keep her alive and healthy.
Yet with the mystery uncovered, we had more information on how to care for her.
The 11 months also gave us time to figure out the logistics of how our daughter would participate in the study. She would have to stay in Taiwan for six months, so we decided to have Judy’s mum and nanny remain in Taiwan for that period while Judy and I took turns flying back so we could continue earning money at our new jobs in Singapore.
On 13 November, when Rylae-Ann was 18 months old, she underwent brain surgery for gene therapy. Family and friends asked us if we were worried. We weren’t. We had our backs against the wall and fought to keep our daughter alive.
While alive, she depended on us for everything. Managing work to pay the mounting health care bills was extremely difficult. There was no downtime or social life. I remember telling Judy that the lack of sleep was making me mad.
We felt blessed that our daughter would have an opportunity in life.
The surgery lasted several hours. It was Judy’s turn to be in Taiwan, so I waited for a video chat update.
The way we explain gene therapy to other parents is it involves injecting a shell of a virus into the brain. The virus normally goes unnoticed by the body, so it is able to bypass the body’s immune system. Researchers used this situation to inject good DNA into the virus. The virus then “infects” the good DNA in the body. In our daughter’s case, it was in the area of the brain where dopamine is produced.
The surgery was a success. A few days later, to Judy’s surprise, Rylae-Ann was discharged. We began physical therapy immediately.
The results came quickly. One month later, she sat up on her own. This was a huge milestone. Since then, she has continued to make progress. Every day we supported her, but we did it in a way where we could still make memories as a family.
Just over a year after gene therapy, our daughter was swimming, walking, running, and even riding a horse. Today, she is an independent child who continues to explore the world. Not only does our daughter have a chance to live, but we also have a chance to be parents.
Judy and Rich now use their spare time to help other families in the rare disease community and have launched a non-profit organisation called Teach RARE, where they work to raise awareness and teach caregivers how to combine educational activities with therapy goals.
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