I’m Learning to Let People In

I recently started enzyme replacement therapy for Fabry disease at the children’s hospital where my son has been receiving the same treatment for a little over a year. The infusion days have been going well, aside from it taking up our entire day. However, I have struggled after…

Galafold (migalastat) is an effective treatment for certain Japanese people with Fabry disease, with no apparent differences in response to treatment due to race, a new analysis of data from the ATTRACT study suggests. The findings were published in the Orphanet Journal of Rare Diseases in…

Enzyme replacement therapy (ERT), such as Fabrazyme, addresses the primary cause of Fabry disease — mutations in the GLA gene that lead to the lack of alpha-galactosidase A enzyme, which is needed to break down a type of fat called globotriaosylceramide (Gb3 or GL-3). A deficiency…

Detectable differences in blood vessel architecture in the eyes of people with Fabry disease could prove useful in diagnosing the disease early, a study has found. The study, “Optical Coherence Tomography Angiography Findings in Fabry Disease,” was published in the Journal of Clinical Medicine.  Fabry disease…

Heart disease is common in Fabry disease patients, and those with the disease should be vigilant about taking steps to optimize their cardiac care. Fabry disease…

High-risk screenings for Fabry disease among individuals with chronic kidney disease (CKD) should be based on biomarkers other than globotriaosylceramide (Gb3) to lower the frequency of false positives, a study has found. Alternatively, according to the researchers, the normal range of urinary Gb3 values for patients…

It’s 4:45 a.m. and the alarm is sounding.  What comes to mind when you read that sentence? Maybe something like sleep, dark, too early, nighttime, must be a siren coming from outside … did I mention “early”? For me, this alarm signals the time…

A common GLA mutation is highly associated with the development of Fabry disease in both men and women, and even women with no typical disease symptoms show signs of heart damage, a Finish study suggests. These findings highlight the importance of  cardiac evaluations in women carrying GLA mutations,…

In recent weeks I have had a traumatic medical experience that has affected me in ways I couldn’t have imagined. I began to feel unwell three weekends ago and thought that I had been too busy and pushed myself too hard. That Sunday, I started running a fever. Having Fabry…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…