hATTR-PN

The 3rd European ATTR Amyloidosis Meeting for Patients and Doctors was held virtually on Sept. 6-8. Because the New Zealand Amyloidosis Patients Association, which I lead, is associated with the Amyloidosis Alliance, we were invited to participate in this global, online event. If not for COVID-19 travel restrictions,…

Vutrisiran, an investigational therapy for familial amyloid polyneuropathy (FAP), eased neurological impairments, lessened heart stress, and ameliorated quality of life, nutritional status, and social engagement in adult patients, according to new nine-month data from HELIOS-A trial. “These additional data from the HELIOS-A study show the potential of vutrisiran…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

My husband and I were married on March 15, 1995. Looking back at these 26 years, I can see the gray and black stain of trials. However, our marriage has been filled mainly with a tapestry of beautiful colors. We have four exceptional children and live in beautiful New Zealand.

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…

The melodic chirping of birds outside the window is louder this morning. This is because Auckland, the city in New Zealand where I live with my husband and our four children, returned to Alert Level 4, meaning lockdown, on Aug. 17 at 11:59 p.m. The coronavirus delta variant…

Long-term treatment with Tegsedi (inotersen) helps preserve quality of life in people with familial amyloid polyneuropathy (FAP) for up to three years, according to data from the Phase 3 NEURO-TTR trial and its extension study. While patients initially assigned to a placebo stopped experiencing declines in quality of…

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…

It is interesting how human emotions can fluctuate like the ebb and flow of the tide. I am usually upbeat and composed, but at the drop of a hat, I also can become upset and intolerant. I liken emotions to the weather. At times, we can predict the conditions and…

Changes in the function of the retina, in combination with nerve damage in the cornea, can be used as early biomarkers of hereditary transthyretin (hATTR) amyloidosis, also known as familial amyloid polyneuropathy (FAP), a study reports. Researchers suggest that a complete eye exam could be useful to detect problems…