- By Sandy Leap. July 26, 2012.
Many NBIA families, like mine, are eagerly awaiting a trial of the iron chelation drug, deferiprone.
- By Cheryl Lamos. July 25, 2012.
I was surprised one day about eight months ago when NBIA geneticist Allison Gregory called me to say that researchers had found the genetic defect that causes NBIA in my family.
The gene is MMIN. It causes mitochondrial-membrane protein-associated neurodegeneration, or MPAN.
After all these years, we had an answer.
Long ago, my three NBIA-affected children, their father, an unaffected child and I donated blood to researchers to find this answer. It has been a long journey.
- By Jann Nestell. November 4, 2010
When Cameron Meade was in the hospital struggling with dystonic movements in 2009, his doctor at Sparrow Hospital in Lansing, Mich., Stephen Guertin, sought the help of Drs. Penny Hogarth and Susan Hayflick for ways to ease his distress. Both are experts in NBIA.
Cameron was not like any other patient they had cared for at Sparrow. His dystonia, which caused severe pain and affected his breathing, seemed to be helped only briefly by medications. During their weekly calls, Guertin, Hogarth and Hayflick devised – and then revised – a medication regimen for Cameron in an attempt to give him some relief.
