AADC genetic profile
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Creating a Genetic Profile to Improve Diagnosis

As a columnist for AADC News for almost two years, many issues and activities related to aromatic l-amino acid decarboxylase (AADC) deficiency have come my way. The most recent one is an exciting project I believe will help significantly shorten the diagnostic odyssey for future members of our community.

Our daughter, Rylae-Ann, was diagnosed with AADC deficiency at 8 months old. Many are not as fortunate to receive a diagnosis this soon, if ever. The average diagnosis time in the rare disease community is about four to five years. In many cases, it can take much longer. However, our daughter’s relatively swift diagnosis wasn’t without challenges.

We constantly subjected Rylae-Ann to tests in the hope that we would find out the cause of her symptoms. We even did two genetic panels that came back inconclusive. The thing that finally helped us to discover the answer was a Facebook post a family member saw online.

genetic testing for rare diseases
A phlebotomist draws blood from our daughter for their genetic tests.

I remember being surprised and confused that the genetic tests came back inconclusive. We had anxiously waited a month for the results we thought would finally provide us with answers. At the time, I had an inexperienced picture of genetic testing. Today I realize that genetic panels have limitations, and there are several panels to choose from.

No cost whole gene sequencing

The company Probably Genetic is a group of geneticists, engineers, and patients. Their mission is to help the 200 million undiagnosed rare disease patients worldwide access no-cost genetic testing. Only about 135 cases of AADC deficiency have been described worldwide since 1990, but the true number may be much higher. That means there may be many AADC deficiency patients out there currently undiagnosed.

Probably Genetic developed a symptom checker for patients with suspected AADC deficiency. Through the information we provide to the symptom checker, undiagnosed patients can find answers. In addition, Probably Genetics offers free genetic tests and whole-exome sequencing.

The whole exome tests identify variations in the protein-coding region of any gene to be identified, whereas genetic panels only look for mutations in select genes.

Contribute your experience

Probably Genetic’s program will be an invaluable resource for the AADC community, but that success depends on the information we provide. Children who receive a diagnosis early could benefit from gene therapy at an early age.

Parents and caregivers of individuals with a confirmed diagnosis of AADC deficiency can complete the easy-to-use symptom checker form. The submissions will be used to train and improve the performance of the symptom checker.

Support AADC Deficiency Diagnosis

Those who would like to contribute, please complete the symptom checker based on the current experience of your loved one with a confirmed diagnosis of AADC deficiency.

Important Note

If you do not reside in the U.S. or have a treating physician in the U.S., you can select “I do not have a U.S. address.”

Affected individuals residing in the U.S. with a clinical diagnosis of AADC deficiency but no genetic diagnosis should also complete the symptom checker.

Together we will leverage the power of technology to improve diagnosis and how genetic testing is performed: https://bit.ly/41ABHwe

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