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Trusting our instincts sometimes means avoiding health trends
05/12/2023

Trusting our instincts sometimes means avoiding health trends

Health trends are prevalent across social media, but columnist Richard E. Poulin III must exercise caution as a rare disease parent.

Rare disease medications among those with patient support programs
29/11/2023

Rare disease medications among those with patient support programs

Nearly half of the medications with manufacturer-provided patient support programs in Canada are meant for rare diseases.

How routine trips to the grocery store became therapy sessions
28/11/2023

How routine trips to the grocery store became therapy sessions

To support his daughter with AADC deficiency, columnist Richard E. Poulin III turned everyday tasks into helpful therapy sessions.

Israeli company, hospital partner to develop ASOs for rare diseases
22/11/2023

Israeli company, hospital partner to develop ASOs for rare diseases

Skip and Sheba Medical Center teamed to develop antisense oligonucleotides that might lead to ways of correcting genetic defects.

These potty training tips helped our child with AADC deficiency
21/11/2023

These potty training tips helped our child with AADC deficiency

When columnist Richard E. Poulin III's daughter was diagnosed with AADC deficiency, implementing potty training tips wasn't a priority.

Scientist: AADC deficiency can cause neurodegeneration in brain
15/11/2023

Scientist: AADC deficiency can cause neurodegeneration in brain

Understanding how AADC deficiency may cause neurodegeneration could open up new avenues for treating the disease, a scientist has proposed.

Our daughter’s rebirth day is an annual reminder of hope
14/11/2023

Our daughter’s rebirth day is an annual reminder of hope

Columnist Richard E. Poulin III and his wife, Judy, recognize their daughter's rebirth day: the anniversary of her start with gene therapy.

PTC, FDA to meet in December to discuss path to Upstaza approval
08/11/2023

PTC, FDA to meet in December to discuss path to Upstaza approval

PTC will meet with the FDA next month to discuss data supporting its application for approval of the gene therapy Upstaza for AADC deficiency.

What does it mean to be a part of a community?
07/11/2023

What does it mean to be a part of a community?

Columnist Richard E. Poulin III answers the question about what a community is after listening to a motivational speech.

The importance of awareness days in the rare disease community
31/10/2023

The importance of awareness days in the rare disease community

Awareness days, including the recent one for AADC deficiency, serve medical personnel and families, columnist Richard E. Poulin III writes.

PicnicHealth acquires AllStripes, adding rare diseases to data platform
25/10/2023

PicnicHealth acquires AllStripes, adding rare diseases to data platform

The patient-centered healthcare data company PicnicHealth has acquired AllStripes, a platform focused on gathering data of rare diseases.

6 things our friends did to make us feel included in social activities
24/10/2023

6 things our friends did to make us feel included in social activities

Columnist Richard E. Poulin III offers a guide to handling social activities when friends face chronic illness challenges.

Growing patient involvement in therapies aim of new NORD effort
18/10/2023

Growing patient involvement in therapies aim of new NORD effort

NORD is offering a new education series that seeks to make patients more knowledgeable about how rare disease treatments are developed.

How co-sleeping benefits our rare disease family
17/10/2023

How co-sleeping benefits our rare disease family

Columnist Richard E. Poulin III shares several ways that co-sleeping has benefited his family, with a daughter who has AADC deficiency.

Upstaza leads to long-term benefits for patients in prediction model
11/10/2023

Upstaza leads to long-term benefits for patients in prediction model

Upstaza is estimated to improve survival and long-term quality of life for people with AADC deficiency, according to a prediction model.

These digital tools help us to be better caregivers and parents
10/10/2023

These digital tools help us to be better caregivers and parents

When caring for a child with AADC deficiency, organization is key, writes columnist Richard E. Poulin III, who shares some helpful apps.

FDA program aims to support developers of rare disease therapies
04/10/2023

FDA program aims to support developers of rare disease therapies

The U.S. Food and Drug Administration is launching a pilot program dubbed START to support development of therapies for rare diseases.

A common virus can be a major hurdle for AADC-deficient children
03/10/2023

A common virus can be a major hurdle for AADC-deficient children

While RSV is relatively common in children, the virus can be serious for those with AADC deficiency, writes columnist Richard E. Poulin III.

UN members asked to back rare disease universal health coverage
27/09/2023

UN members asked to back rare disease universal health coverage

Global rare disease organizations gathered to underscore the importance of including people with rare diseases in universal health coverage.

Colorful dough can power our children’s play and learning
26/09/2023

Colorful dough can power our children’s play and learning

Columnist Richard E. Poulin III sings the praises of colorful dough as a useful toy in children's play, learning, and sensory integration.

How novelty has benefited our daughter with AADC deficiency
21/09/2023

How novelty has benefited our daughter with AADC deficiency

Columnist Richard E. Poulin III explains how incorporating new experiences into his daughter's schedule has reduced her developmental delays.

Most AADC deficiency patients fail to meet motor milestones: Analysis
20/09/2023

Most AADC deficiency patients fail to meet motor milestones: Analysis

In a patient registry, people with AADC deficiency showed a range of symptoms that mostly result in developmental delays, movement disorders.

As AADC deficiency parents, we often felt like puppeteers
12/09/2023

As AADC deficiency parents, we often felt like puppeteers

Before his daughter with AADC deficiency was able to move on her own, columnist Richard E. Poulin III helped guide her through the motions.

Enzyme study may bring insights into AADC deficiency’s causes
06/09/2023

Enzyme study may bring insights into AADC deficiency’s causes

The AADC enzyme can undergo a process called phosphorylation at a specific molecular site to increase its activity, a study reports.

As I begin my life’s second half, I accept my shift to being a mentor
05/09/2023

As I begin my life’s second half, I accept my shift to being a mentor

Columnist Richard E. Poulin III reflects on losing two guides since he turned 40, adding meaning to his evolving role: being a mentor himself.

Test of 3-OMD levels in infants may speed AADC deficiency diagnosis
30/08/2023

Test of 3-OMD levels in infants may speed AADC deficiency diagnosis

Measuring 3-OMD levels in dried blood spots used in newborn screening programs could help in diagnosing AADC deficiency early, study reports.

East Asian people found to have more variants in DDC gene: Study
23/08/2023

East Asian people found to have more variants in DDC gene: Study

East Asian people were found to have a higher frequency of variants in the DDC gene, the cause of AADC deficiency, than other ethnic groups.

Celebrating the success of others in the AADC deficiency community
22/08/2023

Celebrating the success of others in the AADC deficiency community

Columnist Richard E. Poulin III describes his family's journey from isolation to solidarity after his daughter's AADC deficiency diagnosis.

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