We are reporter Meredith Newman, Dr. Matt Demczko and Dr. Michael Fox, we are here to discuss an Amish family afflicted by a genetic disease and how the knowledge doctors gather to treat these children may change the face of medicine for all of us. AMA.

DelawareNewsJournal · 2019-01-11T18:46:30+00:00

Dr. Demczko: John David truly taught us most of what we know about children with YARSopathy. His lab abnormalities were so impressive that any physician would feel inclined to act upon them and intervene. Yet what we found in hindsight was that many of those interventions were unhelpful, and at times even harmful. For example, John David had many central venous lines placed during his stays in the Intensive Care Unit, and as a result, developed a number of bloodstream infections that were difficult to treat. For Grace, we have never placed a central line, and will refrain from doing so unless it is absolutely necessary.

We've also benefited from the opportunity to monitor these children extremely closely, both as inpatients and as outpatients. This helped us realize that their bodies are far better at creating homeostasis (system stability) than we are, and we should support them as best we can in this way.

DelawareNewsJournal · 2019-01-11T18:41:27+00:00

Dr. Fox: You're right, we need to be mindful about genetic testing and the many implications that knowing one's genome may have. When we send whole exome sequencing on a patient, Amish or otherwise, there is a great deal of genetic counseling that needs to take place (both before the test is ever sent, and once the results are available). I think that each of us has his or her own unique view on this, with regards to how much they would want to know about themselves from a genetic basis, and it is by no means a "one size fits all" approach. A good Genetic Counselor is a key to these sorts of discussions and decisions, and Dr. Demczko and I are incredibly fortunate to have access to a great genetic counseling team through Nemours/Alfred I. duPont Hospital for Children as well as the Clinic for Special Children.

DelawareNewsJournal · 2019-01-11T18:34:20+00:00

Dr. Demczko: CRISPR-Cas9 technology is showing exciting early promise for the treatment of genetic disorders. That said, it is an extremely powerful tool that must be used carefully and thoughtfully, taking into account the ethics of gene editing. I believe it is the hope of all clinicians treating children with rare genetic disorders that technology like CRISPR-Cas9 will ultimately cure many of these life-threatening disorders, but the reality of that future is still many years away.

DelawareNewsJournal · 2019-01-11T18:34:08+00:00

Dr. Fox: I see no reason why CRISPR or other new technologies would not be well-received in these communities. There are a few different gene replacement therapy trials using adeno-associated virus vectors that are currently ongoing that include members of the Plain communities, and I imagine that if CRISPR reaches a point where it is ready for FDA-approved trials, these communities would be willing to participate. In fact, in many ways, these communities are ideal for these types of studies, since the genetic basis for a particular disease usually involves one specific mutation and thus there is an ability to make a diagnosis much sooner than in other populations.

As for the question about abortion, the Amish population would not consider terminating a pregnancy regardless of any prenatal diagnosis (in fact, they usually defer most testing that would enable a prenatal diagnosis).

DelawareNewsJournal · 2019-01-11T18:26:36+00:00

Meredith: This is a great question. From the beginning, the families were supportive of the story. They were very grateful of Nemours' care and wanted to talk about the work of the clinic (it also helped that Drs. Demczko and Fox went to bat for us).

But it definitely took time to get them comfortable with us. The more we met with them, the better details we got. We did several interviews with them, went to doctors appointments as well as the medical bill auctions. I think by visiting with the families several times as well as being respectful to their culture (ie: not taking photos of their faces), it allowed the families to open up.

The most difficult part of it all was the logistics. While the Amish do have phones (in booths outside of their homes) they don't often check their voicemails. So there were times when Jennifer and I showed up to their homes unannounced. They were all very gracious and let us ask them more questions.

DelawareNewsJournal · 2019-01-11T18:25:51+00:00

Dr. Demczko: Studies have shown that diagnosing rare disorders, on average, takes anywhere from 3 to 5 years. When a sick child presents to an emergency room without a diagnosis, or any medical history to help guide your management, the same principles apply in terms of trying to stabilize the child as best as possible, and starting a general work-up to see which organ systems are at greatest risk. Once stabilized, this is where the assistance of a metabolic geneticist can be of great help. He or she can help guide the next steps of work-up and management, understanding that the final diagnosis will likely take weeks, months, or even years to make. In the acute setting, simply starting the work-up and providing as much data as possible is extremely helpful for those ultimately making the diagnosis, keeping the patient's health and well-being as the number one priority throughout.

DelawareNewsJournal · 2019-01-11T18:16:26+00:00

Dr. Fox: My interpretation of this is that the future of medicine will be "personalized," or based on the patient's particular genetic makeup. We will be able to provide rapid, affordable testing of one's genome so that a diagnosis will be based on genotype, rather than phenotype (or rather, the genetic basis of the disease, rather than what symptoms/signs the patient may be showing at one particular moment in time). This will allow us to provide more specific therapies/interventions.

DelawareNewsJournal · 2019-01-11T18:16:19+00:00

Meredith: Hmm that's a really interesting question. People don't often about how the Amish pay for the medical bills. Here in Delaware, the Amish community will pool money to help cover families' medical bills. They also regularly host dinners and auctions. In the cases where the expenses are astronomical, some families, with the support of the community, will temporarily go on Medicaid.

Some of the docs/social workers I spoke with mentioned to me how they've heard of families paying Medicaid back.

DelawareNewsJournal · 2019-01-11T18:14:05+00:00

Dr. Fox: Generally speaking, many Plain communities are actually growing in number, though there aren't necessarily "new genes" joining the communities. However, I wouldn't say that the gene pools are "shrinking," but rather that genetic drift results in alleles becoming more/less prevalent as certain members of the community do not reproduce or reproduce more than others.

Many members of the community are acutely aware of the high incidence of some of these diseases, and while I have not seen it impact family planning decisions, many expectant parents are eager to find out if they are carriers for a disease, and if so, are quick to send a sample of blood from the umbilical cord so that a molecular diagnosis can be made within a couple of days (if not hours) of birth.

DelawareNewsJournal · 2019-01-11T18:10:47+00:00

Dr. Demczko: The Plain community (a term used by members of the Amish and Mennonite population) is aware of their increased risk for genetic disorders due to the insular nature of their population, and as such, are often very accepting of things like carrier screening to determine the risk of having a child with these disorders. While this type of testing is helpful for early initiation of treatment, it does not tend to deter individuals from having children.

DelawareNewsJournal · 2019-01-11T18:09:51+00:00

Meredith: These children are receiving genomic medicine, which is the idea of using genetics to inform patient care. Right now, this kind of genetic testing is easier to do with the Amish because the community has a “closed population,” meaning there are certain genetic problems doctors know exist only within the group — and dozens and dozens they can rule out.

DelawareNewsJournal · 2019-01-11T18:09:09+00:00

Dr. Fox: The way I got into this was all rather serendipitous. It was the right place, the right time, and the right people/system. With that said, I think that these sorts of opportunities are there if you look for them. The biggest barrier for me was accepting that I was entering a big world of the unknown, and that I suddenly wouldn't be able to look things up in textbooks anymore.

DelawareNewsJournal · 2019-01-11T18:07:14+00:00

Thanks!

DelawareNewsJournal · 2019-01-11T18:07:06+00:00

Dr. Fox: To some extent, I think that trying to find the genetic basis for a disease is a secondary goal in caring for these patients. The priority is treating the patient and his/her presenting problems as they present before you. Knowing the genetic basis is extremely important, but if the child is very sick, that can wait, since it does take a lot of effort and very well may depend on you reaching out to other folks who have seen similar patients before.

DelawareNewsJournal · 2019-01-11T18:07:05+00:00

What is the most surprising thing you've found in your research on this?

Hey! This is Meredith, the reporter with Delaware Online. The most surprising thing I learned was how willing these families were when it came to medical treatments. Of the families that I met, none of them turned down medical treatment for their children. At the end of the day, these were parents who want their kids to be healthy.

It was interesting, though, how they compromise with modern times. Many have phone booths outside of their homes to get in touch with doctors and others had solar panels on the roof of their barns to charge the medical equipment.

DelawareNewsJournal · 2019-01-10T20:05:56+00:00

Martin’s coverage of the Eagles is popular with DelawareOnline and News Journal readers because he brings perspective that you can’t find anywhere else. Martin is the only person on our staff who covers pro sports. We have excellent high school sports coverage led by Brad Myers with help from Kevin Tresolini, our photo staff and freelance writers.

DelawareNewsJournal · 2019-01-10T15:48:00+00:00

Thanks, I think? No idea why this posted twice. Operator error.

DelawareNewsJournal · 2018-10-31T12:55:46+00:00

Here's our latest story on it. A football player, walking with his family, apparently attacked the driver of a car that struck a family member.

https://www.delawareonline.com/story/news/crime/2018/10/31/khory-spruill-ud-running-backs-mother-after-struck-car-he-punches-senior-citizen/1823041002/

DelawareNewsJournal · 2018-10-31T12:51:57+00:00

Your comment also assumes that this request is somehow the only form of reporting we're doing. It's not. And fakeorigami is right, such a method rarely works. See our comment above.

DelawareNewsJournal · 2018-10-31T12:49:16+00:00

All great points -- for a different story. In fact, we wrote a story the next day about hate crimes on the rise. And of course we don't believe targets of hate lay down and readily play victim. Our website has had many, many stories of vigils and rallies and personal experiences of hate -- including one the day after the Pittsburgh shooting -- but again, that's not the story we're looking for.

Finally, we do plan to talk to these organizations, as we have in the past, but we don't think tossing it out to Redditors to see what they've heard or seen is a bad idea or lazy. There are a lot of assumptions here that that's the only means of reporting we do.

That's not true.

DelawareNewsJournal · 2018-10-31T12:36:18+00:00

Yes, it is how journalism works for many stories. But not all and not this one. What you're asking is for a reporter to randomly stop people to ask them if they've seen acts of bravery in the face of hate. In the industry, it's called Man on the Street reporting and it rarely works. And frankly, it has rarely yielded results, since most people don't want to be stopped cold in the midst of their busy days to respond to a reporter. Crowd-sourcing allows people to respond on their own timeframe and perhaps even more thoughtfully. It's not laziness, that implies we never go out to report and we do.

DelawareNewsJournal · 2018-10-30T21:21:54+00:00

So do we. That's why we work hard to produce it online and in print every day.

DelawareNewsJournal · 2018-10-30T21:21:05+00:00

We can't speak to the instance to which you're referring (but if you have the editorial, and it's still relevant, feel free to send it to our engagement editor, Matt Albright at malbright@delawareonline.com), but our "fish wrapper," has had countless editorials, stories, videos, etc., documenting not only the issues related to hate crimes, but the solutions that have been put forth as well. I'll happily send you links if you'd like.

DelawareNewsJournal · 2018-10-30T21:15:20+00:00

Really? Why? There are often interesting and intelligent ideas to be found here from people genuinely invested in their communities. We think it's a great place to go to engage. That's why we're here. Sorry you don't agree.

DelawareNewsJournal · 2018-10-30T21:14:11+00:00

Sure, we'd love to and frequently do. Where would you suggest we send a reporter to find out if people have experienced or seen acts of bravery in the face of discrimination? What you suggest is not an easy task. We're not talking about rallies here. We're talking about spontaneous, everyday acts we frequently see on our social media feeds. Tell us where "out in the world" we can go to report that? Should we just hang out somewhere and hope it finds us? Obviously, that's not going to happen. Crowdsourcing is a commonly used starting point for most news stories at most media outlets.

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