Richard and Judy’s careful plans took an unimaginable turn when their little girl was diagnosed with a rare condition called AADC. Following a difficult journey to diagnosis and treatment, the couple—both experienced educators—have supported their daughter with educational strategies that incorporate therapy goals. Here, Richard describes his family’s journey and Teach RARE’s support for other caregivers

By Richard Poulin III, president, Teach RARE

Our rare disease journey begins

In April 2018, our daughter was born healthy, and we continued with the plans we had designed so perfectly. We were living in Singapore at the time as expats. By the time she was three months old, we slowly began to acknowledge not all was well—she’d missed milestones and had fleeting moments of tensing. These moments grew in intensity and duration, and we began to refer to them as spells. Soon the spells were too much and we went to the emergency room (ER).

That night in the ER, the doctors diagnosed Rylae-Ann with epilepsy. This diagnosis never sat right with us, and so began our journey for an accurate diagnosis. We searched for answers, got second opinions, and travelled to other countries.

Ultimately, the doctors said they didn’t know, and we were on our own. Our daughter was routinely admitted to the ER for lung-related issues, and we were often visiting the hospital for diagnostic testing. The nurses all knew us, and the bills continued to mount.

One December night, my wife received a text message from her older brother about a Facebook post describing a child in Taiwan with similar symptoms to my daughter. She had been diagnosed with AADC (aromatic l-amino acid decarboxylase deficiency). When my wife shared the post with me, I dismissed it at first, because it stated that the disease was very rare. However, my wife pointed out the highest incidence rate in Taiwan,¹ where her family is from. The article now had my full attention.

The search for information about AADC deficiency

I began researching the disease further, but only medical-jargon-filled research papers were available. One report was from a doctor in Taiwan who had done clinical trials on the disease. There was no indication if there were more clinical trials or if the drug was now available. All I knew was we had to meet that doctor. We were able to secure an appointment on Christmas, and the following week we flew to Taiwan to meet him.

Although surprised to see us, after a short observation, the doctor confidently said our daughter did indeed have AADC deficiency. Later, we confirmed it with genetic testing. We saw then that it is possible for a doctor with relevant experience to make a diagnosis of AADC quickly and easily—but it had taken us eight months and involved countless expensive and invasive tests. And our diagnostic odyssey, I would learn later, was relatively short!

“Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare genetic disorder. It is characterised by decreased activity of aromatic l-amino acid decarboxylase, an enzyme involved in the building (synthesis) of neurotransmitters (dopamine and serotonin), which are responsible for the communication between neurons in the nervous system.”²

A clinical trial for a gene therapy

We learned a space was available in a clinical trial, which had been unfilled for two years. Our daughter was eligible to participate if we could keep her healthy and alive for the next 11 months. We had not done much physical therapy because we worried we were inducing epileptic seizures, but once we learned these were oculogyric crises (spasmodic movements of the eyeballs into a fixed position, usually upwards³), rather than epilepsy, we began a much more intensive therapy schedule.

When she was 18 months old, our daughter underwent gene therapy. Since then, she has made fantastic progress. She runs, swims, and even rides a horse. We continue to apply our knowledge as teachers with strategies from therapy to increase her development.

The gains our daughter made were from our adopting of a caregiver lifestyle. That has enabled us to maximise the potential of her gene therapy, and we now have time that we want to dedicate to our rare disease community.

Teach RARE: a two-fold company mission

We formed the non-profit organisation Teach RARE in April 2022. Our mission is to provide educational activities and support for families of children with rare diseases, undiagnosed diseases, and special needs. 

In addition, we create awareness about rare diseases and seek to improve early diagnosis and treatment opportunities. Our daughter participated in a clinical trial for gene therapy when she was 18 months old. Since then, we have helped to advocate for drug approval in the United States by sharing our parental perspective on the benefit gene therapy has brought her.

Teach RARE’s educational workshops: combining education and therapy goals

In our first year, we have worked with families online and face to face. We saw we could provide a service that caregivers found beneficial and could make a lifelong difference. We have also helped to raise money that will go directly to supporting caregivers. In 2023, as we approached our first anniversary, and with many accomplishments behind us, we began offering a monthly multilingual online caregiver event called The Caregiver Lifestyle Series: for caregivers, by caregivers. Launching in in February to honour Rare Disease Day, each event features a different form of therapy and demonstrates how we overlay it with educational strategies.

“Caregivers understand the importance of therapy and learning, but often they don’t have access, or the additional treatment comes at a cost. We provide free services to caregivers in rare diseases, undiagnosed diseases, and special needs communities.”

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References

[1] Lee NC, Chien YH, Hwu WL. A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan. Am J Med Genet C Semin Med Genet. 2019;181(2):226-229. doi:10.1002/ajmg.c.31670

[2] Aromatic L-Amino Acid Decarboxylase Deficiency – National Organization for Rare Disorders. Accessed February 27, 2023. https://rarediseases.org/rare-diseases/aromatic-l-amino-acid-decarboxylase-deficiency/

[3] Solberg M, Koht J. Oculogyric Crises. Tremor Other Hyperkinet Mov (N Y). 2017;7:491. Published 2017 Jul 24. doi:10.7916/D85X2N2D

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