Finding Answers Through Genetic Testing

Richard E. Poulin III avatar

by Richard E. Poulin III |

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Genetic testing has gained much attention thanks to commercial products that provide people with details about their family’s origin. With a simple home kit, you can mail off samples and receive materials about your DNA.

However, for families experiencing medical diagnostic challenges, DNA testing offers hope for answers, as it helps to shorten the diagnostic journey. The database of previously unknown diseases has also expanded because of it.

Genetic tests, emphasis on the plural

genetic testing | AADC News | A doctor collects a blood sample from Rylae-Ann as an infant for genetic testing.

Rylae-Ann has her blood drawn to collect samples for her genetic test. (Courtesy of Richard E. Poulin III)

Genetic testing may not provide the specific answer immediately, but it can eliminate potential causes. This was the case for our daughter, Rylae-Ann. Although we dearly wanted answers, the first two genetic tests came back inconclusive.

Initially, our doctors thought our child was experiencing epileptic seizures. They ordered a genetic panel that compared our daughter’s DNA to known genetic markers related to epilepsy. Since the testing was expensive and took time, they did not scan the entire genome. Instead, they focused on specific genetic variants related to the panel ordered.

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What Is Genetic Testing and How Can It Help Diagnose AADC Deficiency?

It required Rylae-Ann to have blood drawn. Hospital visits are difficult for our daughter, who easily becomes anxious and fearful due to her disease. Things become complicated when pain is involved. Eventually, the doctor successfully drew blood, and the vials were sent off.

The results did not come back right away. We were living in Singapore at the time, and the blood samples had to be sent to a lab in California. There is a queue at the lab, as they provide testing for people around the world, and once it was our turn, the results had to be sent back to Singapore. After a long wait, the tests came back inconclusive. Her genes did not have any markers matching known epileptic disorders.

Later, doctors thought she had dystonia, or a disease with dystonic symptoms. Again, they ordered a gene panel related to this area. And again, after a long wait, the results came back inconclusive. Even though these two expensive tests did not result in a diagnosis, they did offer some clarity about which conditions she did not have.

Results from genetic tests

genetic testing | AADC News | Rylae-Ann smiles in the arms of a family member after her diagnosis was confirmed through genetic testing.

After several genetic tests, we were able to verify our suspicions of AADC deficiency. (Courtesy of Richard E. Poulin III)

We continued the search for answers. Finally, one day, I saw a social media post describing a rare disease called aromatic l-amino acid decarboxylase (AADC) deficiency. Initially, I discounted it, as the disease only affects a few hundred people worldwide. But the more we learned about it, the more we knew.

We visited a doctor in Taiwan who had the most experience with this rare disease. He was able to confirm it through observations, but another genetic test was ordered.

This time, it was conclusive: Our daughter had AADC deficiency. The test also gave us unique insight into the affected chromosome, the phenotype, and where her expressive and recessive gene shows up in populations. More importantly, it contributed to the gene database to improve information for future families.

Pre-pregnancy genetic testing

genetic testing | AADC News | Richard and his wife pose with their hands on her belly during her pregnancy.

Pre-pregnancy genetic testing can offer couples information about their future children. (Courtesy of Richard E. Poulin III)

After our daughter was diagnosed and I finally had some downtime to think, I remembered how our obstetrician had recommended pre-pregnancy screening. My wife and I planned our daughter’s birth and wanted everything to go perfectly. During that consultation, I thought the doctor was trying to upsell us on additional tests that weren’t necessary. We declined the offer.

We recently spoke with the Child Neurology Foundation about how genetic testing can help to shorten the diagnostic odyssey, and what to do when the testing doesn’t provide answers. I’m not sure if pre-pregnancy testing would have revealed that we were autosomal recessive carriers of a rare disease, but the conversation demonstrated the importance of having all the information possible.

Conditions and rare diseases can blindside a family. Luckily, my wife and I were financially stable, had jobs, and were surrounded by supportive friends and family. Without that, the journey would have been significantly more difficult.

Pre-pregnancy genetic testing screens for possible genetic abnormalities, and may inform you about diseases your future child is predisposed to. Many of our friends went through a process in Thailand and Taiwan where doctors select the embryos that are the healthiest, and then implant them back into the mother’s womb. This improves the chances of healthy children, while also assisting families who have difficulty conceiving. In hindsight, I wouldn’t have hesitated to follow through on the doctor’s recommendation for pre-pregnancy genetic testing.

Benefits of genetic testing

Through genetic testing, you can identify mutations in your child’s DNA to understand the cause of symptoms, significantly shortening the diagnostic journey. Genetic testing has been useful in many fields, including medicine, crime, and genealogy. This has allowed it to advance with the promise of providing more answers in the future.

Although genetic testing can be expensive, there are discounts for relatives of people with rare disease, and even free genetic testing, genetic counseling, and family screening programs available if you suspect your child is suffering from a neurotransmitter disorder.

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Note: AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of AADC News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to aromatic l-amino acid decarboxylase deficiency.