Teach RARE

The journey of helping our AADC-deficient child gain independence Independence is tricky for a child with a rare disease, but columnist Richard E. Poulin III found an approach that works for his daughter.

Lessons from my daughter on letting go of frustration Dealing with the daily challenges of AADC deficiency is hard, but columnist Richard E. Poulin III is working on letting go of frustration.

Prof. Hong Explores AADC Deficiency "Prof. Hong Explores AADC Deficiency" is the first publication from The Rare Journey Series, a children's book series that features true stories of rare diseases.

Florida State University leading the way to make a difference for our future!

$5M to Florida State University for pediatric rare disease research Florida State University has received $5 million from the State of Florida to support its Institute for Pediatric Rare Diseases.

We're proud to recognize on Wednesday, Oct. 23. Join the and special guests at 11 a.m. EDT to learn more about the condition and need for increased awareness. RSVP: https://bit.ly/3A3aXvK

The details of the inner world of our minds

First complete map of every neuron in the brain revealed Scientists reveal the first complete neural map of an adult brain, mapping every neuron and connection for new insights into brain function.

Researchers identified 22 connections between viral infections and these brain diseases:

More Evidence Suggests Alzheimer's is Linked to a Virus A study of 500,000 medical records of patients with Alzheimer's again demonstrates a link to a virus providing more insight for prevention.

Our amazing families in shared the fantastic news that Upstaza was approved which means children will receive the treatment they so desperately need. Families can have a new journey in life of making beautiful memories!

Anvisa aprova registro de produto inovador para doença rara Medicamento é indicado para tratamento de crianças com AADC, condição rara debilitante e potencialmente fatal.

During our recent trip back to Taiwan, we passed an apartment building and it reminded us of the challenges of joining a clinical trial. No matter what the barrier, parents always find a way.

At the last minute, a desperate search for a home pays off Participating in a clinical trial far away was tricky for columnist Richard E. Poulin III's family, particularly their search for a home.

Did you know 1 in 10 American have a rare disease and more than half are children?

Richard and Kaylee Lazaro's newborn twins, Rykker and Bekkem, had a challenging start when Rykker was diagnosed with (SMA) and required treatment in the NICU. Rykker received , a groundbreaking therapy, leading to improvements but still faces ongoing therapy and specialist care. The Lazaro family, grateful for their son's progress, started a foundation to raise awareness and funds for Rykker's care and research. They focus on cherishing each moment and ensuring Rykker's quality of life.

Twin with rare disease turns 1, defying all odds Baby Rykker was diagnosed with the rare disease just moments after being born.

Research on telomere biology disorders (TBDs) reveal several critical gaps in care and unmet needs faced by both individuals with TBDs and their family caregivers. The research underscores the need for multidisciplinary interventions to address these complex needs across psychosocial, medical, financial, and daily life domains.

Psychosocial Needs:
* All adults with TBDs and the majority of caregivers report unmet psychosocial needs, particularly around managing emotional distress.
* Emotional problems such as anxiety, depression, and PTSD are common, and strategies for coping with distress often pose additional challenges​

Medical Needs:
* Nearly all participants identified unmet medical needs, particularly around receiving optimal care, navigating insurance, and managing illness-related symptoms. A lack of coordinated care and delays in diagnosis are frequent challenges.

Financial Needs:
* Financial strain is common, even among those with medical insurance, due to copays for frequent appointments and treatments, as well as difficulties covering non-medical expenses​.

Daily Activity Needs:
* Both adults with TBDs and caregivers face challenges balancing work or school with illness management. Other unmet needs include taking time off work and finding time to meet personal needs​.

Defining the complex needs of families with rare diseases—the example of telomere biology disorders - European Journal of Human Genetics Families with rare diseases, such as telomere biology disorders (TBDs), may have extensive unmet needs given the heterogeneity, chronicity, and potential severity of illness. TBDs are rare inherited syndromes associated with high risk of bone marrow failure, cancer, pulmonary fibrosis, and other sev...

Three-year-old Wilfred from Ipswich was diagnosed with the rare genetic disorder (MPS) II, also known as , which affects his body's ability to recycle certain molecules. While the condition impacts each person differently, it has delayed Wilfred's development. He now receives weekly enzyme replacement therapy at Great Ormond Street Hospital, with no clear prognosis for his future. Despite the emotional and logistical challenges of managing his care, Wilfred’s family remains open about their journey, aiming to raise awareness of MPS and relying on support from loved ones and organizations like MPS Society UK, here for those with rare diseases.

Ipswich dad's mission to raise awareness of son's rare disease There is no cure for Wilfred's disease and doctors do not know how it will affect him later in life.

U.S. Food and Drug Administration explains the challenges, strategies, and regulatory considerations for clinical trials.

LEADER 3D: Challenges, Strategies & Regulatory Considerations for Rare Disease Clinical Trial Design What are the regulatory considerations for designing a rare disease clinical trial? This LEADER 3D video provides an overview of FDA’s regulatory requirement...

This is a follow-up post on our trip to and celebrating the journey of Upstaza. Once again, thank you to all who joined this event and shared their expertise!

Celebrating the hope from AADC deficiency gene therapy As Upstaza use for AADC deficiency becomes more widespread, columnist Richard E. Poulin III honors some of the people who made it possible.

How to make occupational therapy for AADC a part of daily routines... Columnist Richard E. Poulin III and his wife host an online event that suggests occupational therapy be practiced as part of daily routines.

One of our goals was to make resources and support accessible to all. We are proud to offer the first book in The Rare Journey series not available in Chinese. We have more books in more languages on the way:

洪教授探討 芳香族L-胺基酸脫羧酶（AADC）缺乏症 (The Rare Journey Series) (Traditional Chinese Edition) 洪教授探討 芳香族L-胺基酸脫羧酶（AADC）缺乏症 (The Rare Journey Series) (Traditional Chinese Edition)

We are honored to be here today presenting to the doctors who created this innovative treatment. Today, we witness a groundbreaking solution that stems from years of hard work across various disciplines and significant investment—most importantly, the dedication of individuals committed to making a difference in the world.

Dried Blood Spot (DBS) testing is a simple yet powerful tool for diagnosing rare diseases. By collecting a few drops of blood from a patient and drying them on a filter paper, this minimally invasive method allows for the screening of a wide range of metabolic and genetic conditions. DBS testing is especially valuable for diagnosing rare diseases because it requires only a small blood sample, can be easily transported to specialized labs, and enables early detection through newborn screening programs. Early diagnosis through DBS testing is crucial for timely interventions and improving the quality of life for individuals with rare conditions.

Dried blood spot testing (DBS) Dried blood spot testing (DBS) is a form of biosampling where blood samples are blotted and dried on filter paper.

Before AADC-deficiency gene therapy, my child's vomiting was a big... Columnist Richard E. Poulin III reports that his child's occasional vomiting, five years after gene therapy, is just another fine mess.

This innovative bowl leverages a well-known science concept to create adaptive tableware that supports individuals with , enhancing mealtime independence and accessibility.

Anti-Spill Gyro Balance Bowl How science help to create a new design for bowls that helps special needs children.

We always refer to naps and as medicine for our daughter, and we never miss a dose. It is crucial.

Napping helps preschoolers unlock their full potential for learning Research shows napping helps young children learn, as well as enhancing their emotional well-being.

Pathway lights guide the way to future success for all students.