On Autism, Puzzles, and Being a Good Aunt

Posted by Lori Walsh on
Jax and his puzzle
Taylor Byers

I want to be a good aunt.

When I learned my nephew Jax had been diagnosed with Autism, my first reaction was how can I help?

I might have responded differently had the label been stamped onto my own child. I might have panicked or slipped into denial. More likely, I would have dove headfirst into research in the quest for something – anything – I could do to smooth the course of the child’s future.

Instead, I sat back and quietly looked at the boy anew. He’s shy around me. He doesn’t sit on my lap or greet me with a hug very often. On the other hand, he seems to like doing puzzles with me.

We begin where we are.

When Dr. Suma Jacob of the University of Minnesota joined me on In the Moment to talk about the latest in Autism research, I had dozens of questions I wanted to ask her. Dr. Jacob is a world-class research scientist, but she understands the heart of Autism on the human level.  In short, she’s a scientist who understands fear. She’s a scientist who understands love.

It turns out, love is precisely what matters when you’re an aunt. It’s all about getting to know Jax exactly like I was already getting to know Jax – as a pretty cool kid who likes puzzles and sprinklers and racing through the grass on a summer day.

 Every person with Autism is an individual. No surprise, but worth the reminder.

Here’s my conversation with Dr. Suma Jacob. I hope that it serves each family trying to un-puzzle Autism in their lives.

This is an edited version of the conversation. If you would like to listen to it in its entirety, click here.

Lori Walsh:

So let's talk about how you got into this particular area of research in autism, you do some work with OCD and other ... Do I say disorder or what's the proper?

Suma Jacob:

Childhood neural development is sort of the area that I work in most. I started with an MD-PhD training, so it was the idea that I would learn basic science that could be applied to clinical translation or actually helping people and the patients. So, when I did that, I studied in an area called social neural science: how the brain works when we process social information. Then, when I continued to do my clinical training after finishing medical school, I did training in adult and child related disorders, and autism made a lot of sense because it's our social brain and behavior processing. So, the two worlds came together that way.

Lori Walsh:

Alright, so I have a nephew who was recently diagnosed with autism, and the first thing that we all asked was, "You would think we would know more than we already did because it's talked about so much." But, as an aunt I kind of threw up my hands, "What do I need to know? How can I help? How can I part of this process?" And then the learning begins. Is that sort of the typical way that people hear something and think they know it and they really know nothing yet?

Suma Jacob:

I think that that's true. There's a saying that if you know one individual with autism, you only know one individual with autism. And most people learn about it through a family member, or friend, or someone they find out about that has autism or autism in their family. And, once you start looking into it, you realize how complex it is and how much variability there is. And it's just sort of the beginning of figuring out what something this complex is.

Lori Walsh:

What do we know about it that we didn't know five years, ten years ago, from a research standpoint? What have we learned recently?

Suma Jacob:

So I think five or ten years ago, people were hoping that they could find single causes. There are genetic disorders, like Fragile X, that the hope was we would find a single gene and then, from that gene, we would be able to come up with new cures or ways to deal with it. Autism has ended up being very complex like a lot of our medical disorders. We don't have a single cause for diabetes or a single cause for hypertension or high blood pressure. In a similar way that there are brain disorders that we ... There can be multiple things that cause it. It is a highly heritable or genetic related disorder, so there are traits of it that run in families but it's complex. There's also spontaneous new mutations that can occur and so someone in the family could have it and their parents don't have genetic risk. So it's a very complex disorder and we're just beginning to figure out the many things that cause or contribute to it.

Lori Walsh:

So is it common then for siblings to also have similar?

Suma Jacob:

There's a higher risk for siblings, and that again it's assuming that it's ... There's some groups that it's not a spontaneous mutation with that particular child. But there's also common things that run in the family, traits that run in the family, and that's what's been so complicated. Studying it at this different level, there are multiple things that are causing it. So there are probably subsets that are brand new, spontaneous mutations that came that are more syndrome related, which gene regions. Plus there are common risks of families that have more obsessive-compulsive disorder, other kinds of things that run in the family and, you have enough of those common risks that come together and you have increased risk to have autism.

Lori Walsh:

A lot of people ask about environment. Is there an environmental component?

Suma Jacob:

I think that that's something a lot of people are interested in. We are not aware of any clear, single, environmental cause. And it's something that we'll continue to look in and explore, but there's not a huge amount of data for it as there is looking at genetic risks so far.

Lori Walsh:

Alright, let's talk about your research and your research and what's sort of going on now? What do you want to know and how are we moving forward to find out the answers to some of those questions?

Suma Jacob:

Yeah, one of the things I've been really interested in is, with complex disorders like this, there's a lot of variability. And trying to be able to diagnose kids younger, and even if they have a subset of risk factors, what they are, and ultimately creating personalized or very precision interventions and treatments. So, currently we are still coming out of an era of medicine where you either have a disease or you don't. It's almost like a binary decision, yes or no. But a lot of these things are continuums. So you may have risk factors, you may have a combination of things. It's also complex over development so, if you have someone that you see that have certain things going on, it looks very different at 2, at 5, at 15, at 30. Right? So we're just beginning to be able to sort out those kind of things and that's some of the projects that I'm doing in my lab. And, in order to do that, we've been looking for bigger and bigger numbers of people involved in research so we could answer those questions.

Lori Walsh:

Alright, when you say young, how young?

Suma Jacob:

Young, in some of the projects I'm working with my colleagues, we're looking at children in their first year of life and following them forwards, we're looking at risk factors and trying to see if certain things predict whether you're at risk for certain things or not. And ultimately the goal is if you have things that are at risk, if you actually did something to help the child or family at that point, does it shift the trajectory you're going on so that things aren't as severe later on?

Lori Walsh:

Alright. So more people gives you a better chance at finding out what? What do numbers have to do with it when it comes to scientific research?

Suma Jacob:

Numbers are really interesting. They're important for things like causes, or the different factors that contribute. So even if you think of something like ... We know that height is very influenced by genetics, it's also influenced by nutrition and environment and the time period you're born in terms of generations. But that has thousands and thousands of genes involved. But until you get a large number of people and great data to look at all those individual factors, you can't even begin to look at the different pieces that contribute to it.

Something like autism is similar to that in that we have more families involved. Right now, we know that there are over 100 genes involved. But as you get multiple groups or subgroups, you can learn more about how one particular thing in that group affects things and then how those things work together. So big numbers allow us to look at the variability, and then also find subgroups within those big numbers and try to do things that would influence those subgroups that you would miss if you just look at averages of smaller groups of people.

Lori Walsh:

Okay. So how many scientists are working in your lab? How big is the effort just at U of M and your space?

Suma Jacob:

Yeah, so my lab is about 10 people at various levels in their training. But I have collaborators and at least a handful of people in the University all working at this problem from different angles. So some are experts in education, and that's their approach. Some are experts in infant and early development. Some are experts at brain imaging. Some are experts at genetics. Others ... I've done work in biomarkers, so things that aren't genes but blood level or other measurements that you would take. And that's what's fun about working in a university and a community because you can put all those different tools together to answer questions.

Lori Walsh:

Alright, let's talk about South Dakotans now and how they can be part of autism research and why they would want to.

Suma Jacob:

So one of the fun things about this new project that ... And it's not that new, we've been doing it for about a year and a half ... But these bigger projects that require larger numbers with genetics where we've used technology to actually allow families to participate online. So you can actually sign up and do everything online. The other cool thing about technology is in the old days, when we did genetic studies, we'd have to bring in families, they'd have to get their blood drawn ... Children hate getting their blood drawn. But now we can actually do genetic data from saliva so if you get ... There are kits where you can spit into it and there's enough DNA and we have the technology to actually put together those pieces too actually look across the whole genome.

This is a relatively new technology that ... You can imagine the computational efforts it takes to take three million genes and put them in sequence for each individual. We're now beginning to be able to do that. So the ease of being able to login on your computer, share your information, then to actually get this saliva sent to a lab that can do this, then partnering with a national group like the Simons Foundation and the SPARK study ... They've also figured out how to work in these analyses, look at the top 70 to 100 plus genes, and then ultimately, if someone involved has these genes, figure out a way to get this information back to families, and also figure out what that means. Because, sometimes, you can sign up for things and get data back. Like there's some commercial genetic hits out there right now but you get a list and you don't know what that means.

So, a study done well like this will ultimately help families also begin to figure out what that means and what resources are available. And we have been doing this for a year and a half and we're a regional site. So, my team is at the University of Minnesota, but we extend across all the States into Wisconsin, the Dakotas, and we have about a dozen families already involved in South Dakota. But it would be wonderful to have more families involved because the goal is ultimately to have for fifty thousand individuals involved. And the more families we have involved, the more we'll learn from it.

And families can continue being part of these communities as we learn new things. So if I was doing a study on my own and I closed it off and finished it, we would know everything we know today about genetics. But if we're part of a long term project, five years from now we'll have new discoveries that might be really important for an individual. This way, you're part of a system that you can continue to get information on those new discoveries. So it's in way, creating a network of community that shares information over time.

Lori Walsh:

So for many of your research participants, the parents would be making those decisions for the kids, although certainly some adults with autism could participate as well, as I understand it. What sort of considerations do parents need to look at about privacy and ethics of giving their child's DNA to anyone? And what sort of protections are there?

Suma Jacob:

So, one of the ... Again, a thing of doing a project like this with research organizations that have thought carefully about the ethics of what we're doing ... Science is always changing and technology's changing but the data's often kept de-identified in the level of trying to maintain the privacy carefully. Families get to decide if the data's shared with the local site or who the data is shared with. Other things that are important over time ... Cause I've been involved in genetics research a while ... Once the child turns 18, they get to decide whether they continue to participate.

In something like autism, family data is really important so ideally we'd have biological parents and the child because, as I mentioned earlier, some of the mutations are spontaneous. So you will be able to look if they were inherited from parents or not. Sometimes this information's really helpful to siblings because they will know whether it was an inherited risk or if it was spontaneous. So, in some ways, autism compared to some other disorders ... We really want families to participate cause that information's more valuable that way.

Lori Walsh:

So are people who are joining the research study at this point doing so because, from an altruistic sense of, "I want future generations, maybe my children's children to benefit from any research."? Or are there real benefits to families who have that one-year-old and need resources right now? Or is that separate path that they're sort of finding resources and they're participating in this study on the other hand?

Suma Jacob:

So I think it's both. I think, on the one hand, people often participate in research because it will benefit the larger community or children with autism diagnosed 20 years from now. But there are examples ... I have a colleague that I work with whose stepson was diagnosed with autism and they were struggling to figure out what was going on. And he was able to actually get genetic analysis done through another system but they figured out that he had a very, very rare disorder. And there is no cure for that particular genetic disorder but it connected the family to the one doctor, who happened to be in Europe, who's the expert.

And then from that, she was able to connect to them to this one clinician who has expertise in some of the treatment pieces, who gave them recommendations for specific medications. And then, they also knew, by talking to the other families, that certain things happened in this particular disorder in early adulthood, and it gave them a frame. Combining all this work ... He was actually doing poorly but once they figured this out and could make some of the changes, he's done much better and gone back to living in an independent community and going back to a job program. And the knowledge that they got by knowing that this was a specific syndrome, even though we don't have cure for that particular syndrome, but knowing more about the syndrome from the other families and potential treatment things that you can do now without a direct cure, was really invaluable for them.

Lori Walsh:

Alright, how do I be a good aunt? When this comes to your family and you're not necessarily the parent doing the major amount of research and really digging into talking with the school and figuring out what interventions your child needs, how do you be supportive from those outer layers of family and school and community?

Suma Jacob:

So I think one, being really supportive to that family and, I think this is long term set of issues that you're dealing with across development. Some kids do great and then they're new periods like hitting middle school or high school or college, and it's tough. So families support broader than the nuclear family is extremely important. We do know that kids that have really resilient and supportive families do great. The other thing is thinking about research as a whole and that community of support. That piece of sharing information that you know that's helpful to the family, figuring out resources that they may not have time to look up. There's so many way that you could help. And then also being educating other people, like you are doing right now.

There's a lot of misunderstanding about, not only autism, but intellectual disability or other developmental disorders. Autism's tough. There are certain disorders that, if you see someone, you physically know they have a challenge. Autism ... Often individual's don't look like they have a physical challenge, but they may be extremely sensitive to noise or extremely sensitive to stress, and it's really difficult. But educating people in the community to know that these are challenges that kids and families go through ... And sometimes families become very isolated cause communities don't understand what these challenges are.

Lori Walsh:

How do people participate in the research study if they're interested and want to reach out and find out if it's something for them?

Suma Jacob:

So there will be an online link that you can get on the website related to this particular radio show that will tell you how to sign up. But we've also setup something via text because that might be easier. So if you dial 555-888 and it will allow you to put in a prompt. It's called SPARK A-S-D-S-P-A-R-K-A-S-D and that will tell you about the national genetic study.

We also have a regional network that shares information, regionally. What's going on around this area, resources, new education updates, other things called FindASD. And so you can type F-I-N-D-A-S-D and that's for broader information that's not just the genetic study.

Lori Walsh:

Dr. Suma Jacob, anything else I should've asked you that you wanted to make sure that people know about, current autism research, or the work that you're doing?

Suma Jacob:

I think the one thing is that you sort of highlighted. It's an exciting time because technology is allowing us to connect with larger groups and communities together. And I think that that's the promising piece. We may be able to find new things and deal with the complexity in new ways because, as advances occur in terms of collecting data, in terms of computers, and genetics, I'm hopeful that we'll be able to approach problems and challenges in new ways.

Lori Walsh:

Dr. Suma Jacob is director of the Autism Research Program at the University of Minnesota. Go online on our website after the show for more information, listen.SDPB.org. Thank you for being here.

 

 

Button_ITMargins_328x76_0817.png

I have always been a devoted scribbler in the margins of books. As a reader, I underline and highlight. I add questions marks and exclamation points. I argue with the author. But where are the margins in a radio program like In the Moment? 

You have to create them. 

Welcome to In the Margins. It’s a place for behind-the-scenes. It’s a place for expanding the conversation.

It’s a place for just one more question.

Button_WhatIRead_328x76_0817.png books.JPG

Meet me in the Hills! In the Moment heads to the South Dakota Festival of Books for a live broadcast from the Deadwood Mountain Grand. It's my favorite event of the year, and much reading awaits. I'm currently deep into the sweetness of "Braiding Sweetgrass." Here are a few other titles waiting on the nightstand.