Read at Pyruvate Kinase Deficiency (PKD) Externally-Led Patient Focused Drug Development Meeting (PFDD) Meeting on Friday, September 20.
Written By Debbie Drell, Director of Membership, NORD
According to the NIH, more than 500 affected families have been identified with Pyruvate Kinase Deficiency (PK Deficiency) in the world, but just 140 miles north of where we sit here today, you’ll find a community where PK Deficiency is not rare. The Amish community of “Big Valley” in Belleville, Pennsylvania has at least 50 cases of PK Deficiency.
That’s about one in 10 of all known cases in the world.
This Amish community is no stranger to rare disease: PK Deficiency is common in the Amish because of the “founder effect.” When a small part of a population moves to a new locale, or when the population is reduced to a small size because of some environmental change, the genes of the “founders” of the new society are disproportionately frequent in the resulting population. Big Valley, Central Pennsylvania is home to the third oldest of all Amish settlements, founded around 1791.
What’s more, if individuals in the group tend to marry within the group, there’s a greater likelihood that the recessive genes of the founders will come together in the cells that produce offspring. Thus diseases of recessive genes, which require two copies of the gene to cause the disease, will show up more frequently than they would if the population married outside the group.
That’s why PK Deficiency is many times more common in this Amish population than in the American population at large.
The Amish communities of Belleville affected by pyruvate kinase deficiency have their own unique culture: the majority of them do not use technology – horse drawn buggies are the common mode of transportation and when you travel through the valley, you’ll see clothes lines of freshly hand-laundered dresses of dark, solid colors hanging to dry.
It was a culture shock to me to be in a room full of people who made eye contact and didn’t have their eyes buried in cell phones; they also don’t use computers or web technologies. The majority of this community will never receive an email to participate in a “patient-focused drug development meeting.” They will not be watching this meeting on a “webcast live stream.” They will not be pressing buttons on their phone to participate on an online poll for an FDA “Voice of the patients” report. They are invisible to an extent.
But they will be heard. From my discussion of this visit with a staff at FDA, this community of Amish patients had never been engaged by FDA for patient experiences. Until last week.
One physician, Dr. Holmes Morton, treats these Amish pyruvate kinase deficiency cases and he invited representatives from the National Organization of Rare Disorders (NORD) to speak at their first PK Deficiency patient education day at the opening of his new Central Pennsylvania Clinic.
My colleague Alexa Moore and I spoke to the room of 50 Amish patients and parents, individuals with PK deficiency in their families and talked about:
- How important their experiences are to FDA (and also, what the FDA does for drug development!)
- How we can’t assume what their hopes are for treatments because of their unique experiences and culture
- How we just don’t know what they’re willing to risk in therapies and to what benefit
- Why their feedback matters.
Because cultural practices against technology bar them from participating in this meeting, we brought this meeting to them in a way and distributed paper copies of surveys to the 50 in the room.
We distributed two types of surveys:
- One survey with the multiple choice questions that you are asked to participate with mobile online polling (and for those online, with web polling)
- One survey with open-ended questions that we asked of our panelist when drafting their comments
We collected nearly 26 of both types of surveys and will be including them in the “Voice of the Patient” report.
A quick evaluation of the responses indicated that pyruvate kinase deficiency patients struggle most with fatigue and have had to change their lives to incorporate daytime naps so they can manage their daily responsibilities working on the farm. Those who did not submit paper surveys kept copies of them to fill out when they returned home and they will pass along their completed survey to Dr. Morton to scan in and email back to NORD.
It was an honor to share the work we are doing here today with this community and we plan on visiting again to share the results of this meeting.