Interview by Whitney Smith from CDD, June, 2017. Original source here.
“I think that right now there seems to be a really big push into research on rare diseases. All the rare diseases are collectively getting together and saying, “Hey, we’re here!” – combined together they make one big common type of genetic disease category. I think this is the day and age of rare diseases.”
Theresa Pauca
Co-Founder and Vice-President, PHRF
Theresa Pauca is a co-founder and Vice President of the Pitt Hopkins Research Foundation. She has a B.A. in Psychology from the University of North Carolina at Chapel Hill, and a Masters of Arts in Teaching from Salem College. Theresa has been a Vice Chair of the Corporate Board for Smart Start of Forysth County, a Project Coordinator in Child Development at UNC-CH, an Instructor in the Department of Education at UNC-CH, and a Public-School teacher in Regular and Special Education. Theresa and her family live in Winston-Salem, N.C.
Whitney Smith: Today we’re here with Theresa Pauca, co-founder and vice-president of the Pitt Hopkins Research Foundation (PHRF). I want to thank her for joining us today to talk about the Foundation and the important work that they are doing in to support research into this rare and neglected genetic disease. Hi, Theresa!
Theresa Pauca: Hi! Thanks for having me.
WS: Absolutely. Could you tell us a little bit about yourself and your family?
TP: Yes. So, we live in Winston-Salem, North Carolina. Before I worked for the Foundation, I was the project coordinator for a child development grant at UNC, Chapel Hill. I’ve also been a regular ed. elementary teacher and a special ed. elementary teacher, which has been very helpful with my son. Now, I’m working pro-bono for the Foundation as the vice-president, and also coordinating care for my son, Victor.
WS: Could you tell us a little bit about Victor and his journey?
TP: Yes. Victor is 12 years old. He’s our third child. We have two older daughters—Sofia who’s 18 and Francesca who’s 15, who are neuro-typical. My husband is Paul Pauca. He’s a very involved dad, wonderful person, and he’s a computer science professor at Wake Forest University. I had a normal pregnancy, and when Victor was born I noticed that his facial features were just slightly different then our girls. He had kind of a bridge on his nose already and I thought ‘Oh wow. He has his daddy’s nose.’ But it ended up being a little different than that. He was a beautiful baby, but he started not reaching his milestones. That was the first indication that there were some issues. He often kept his hands fisted. He wasn’t sitting up. He couldn’t play with his toys as well as a typical child. He was, always, though, very engaged with us—very lively, really interested in what we were doing and smiled a lot, and babbled a little bit too. So, we felt very encouraged by that. But around six months old the pediatrician said, ‘Let’s watch and wait a little bit’. Which I was actually really kind of grateful, because we tried not to worry about things and enjoy him being a baby. But really at about 9 months he still wasn’t able to sit up very well. He was kind of beginning, but he would fall back a lot, so he recommended for us to see a physical therapist. So, we did, and started working on some of his motor skills, which weren’t super behind—in the end, he was very fortunate with that. He did end up taking his first steps right at two and started walking when he was two and a half—which is actually pretty early for a child with Pitt Hopkins. But after that though, they recommended that we see a geneticist and a neurologist and then we began our journey of trying to find a diagnosis for Victor.
At first the neurologist thought he might have Angelman Syndrome, which actually presents very similarly to Pitt Hopkins. But we did some tests when he was two and a half, in 2008, and the first test, a microarray analysis, came back negative. This test was sent to Signature Genomics in Washington State. Then they were so nice, because within a couple of months they had doubled the number of diagnostics sites that they had identified for Pitt Hopkins, and so they offered to retest his sample for free. When they did that and found a deletion on his 18 chromosome that included the gene TCF4. Then our geneticist called us and told us that this indicated that he had Pitt Hopkins Syndrome. So that was in 2008 when he was two and a half. There was no organization on the web anywhere for Pitt Hopkins at the time because it had only been identified in the Netherlands in 2007. It had been clinically identified in 1978 in Australia with Dr. Pitt and Dr. Hopkins, but no molecular diagnosis until 2007 in the Netherlands. And then in the US right around 2008 when Victor got his diagnosis.
WS: If I could ask a quick question: even though there was no support organization for the newly found Pitt Hopkins at the time, were there any support organizations for you as parents or the families for the fact that your child had a rare and neglected genetic disease?
TP: Yeah, I ended up connecting with a few families through NORD—the National Organization for Rare Diseases—and they have a group website at Inspire {author’s note – see NORD’s website at https://rarediseases.org/ and Inspire’s Genetic Alliance Community at https://www.inspire.com/groups/rare-disease-and-genetic-conditions/}. And we were able to write in and say “My child has that rare disease…” and they would match us up with another family. There was another family in the Netherlands and a couple families in the United States at that point – so a handful of us. We decided to start a Google group in March or April of 2008, right after we got Victor’s diagnosis, and then we posted a link of that onto Inspire, and that’s how we started to get families to connect with each other. After that, we started getting more and more families trickling in from the Netherlands, the UK, and the United States. Then I decided that I would teach myself how to make a website, so families could actually see something and we could have information about Pitt Hopkins to share.
In May of 2010, my husband and I were talking about how actually there was no research for Pitt Hopkins Syndrome, and how we had to give these families hope, because at that point the only papers that were being published—there was just a little handful—indicated the most severe symptoms of Pitt Hopkins Syndrome. Most of the papers said that they would never walk, never talk and there was actually more variety than that fortunately. So, we wanted to get that information out. So, in May of 2010, my husband and I approached a community foundation in Winston-Salem called the Winston-Salem Foundation { https://www.wsfoundation.org/}. And that’s a really great way for rare disease foundations that are just starting up to start fundraising, because you can hold your funds under the umbrella of the community foundation. So, we did that. And a few families in the US, simultaneously and including us, held a 5k and started raising for research. So that was in May of 2010. Then in the spring of 2012, the Davidow-Lapidus Family joined the Pitt Hopkins community and really exponentially increased our fundraising efforts. And then we began getting our 501c3 status and have been fundraising and organizing since then. So, we are now officially since the summer of 2013, a nonprofit.
WS: Wow, what a journey! Thank you for sharing all that background about your family and how that led to starting a foundation. I think most people don’t realize what it takes to get that kind of thing started. Now that you have the Pitt Hopkins Research Foundation, what’s the high-level goal of the Foundation? What’s its mission?
TP: Its mission is to find a treatment and ultimately a cure for Pitt Hopkins disease.
WS: In the community of rare and neglected diseases, do you interact with other organizations?
TP: Absolutely, yes. We interact most closely with Angelman Syndrome and Rett Syndrome, which are two diagnoses that some of our children do get at first before it’s found that they have Pitt Hopkins {author’s note – see also If not Angelman, what is it? A review of Angelman-like syndromes Am J Med Genet A. 2014 Apr; 164A(4) :975-92 and for leading foundations working on Rett Syndrome see both: https://reverserett.org/ and https://www.rettsyndrome.org/}. They can move out of those into our syndrome. Also with cerebral palsy we interact with many organizations too, because several of the kids are diagnosed at first with CP. That was actually thought of first for Victor. We got the MRI and other tests at the beginning, which turned out negative for CP. And then also, Pitt Hopkins is on the autism spectrum. So, we are interacting with autism groups as well.
WS: What I’d like to do is turn our attention to the medical research community and how the PHRF works within that. Maybe you could just help us understand as a parent of a child with Pitt Hopkins, what is your experience working with the medical community—maybe both positive, and negative—and not just the medical community but the medical research community?
TP: Honestly, it’s been really positive. Primarily we fund research into Pitt Hopkins disease through research grants. We have a scientific advisory board comprised of top scientists from around the country who advise us on these grants. We have an annual or sometimes biannual scientific symposium, where scientists come to give talks on the grant research, or research on Pitt Hopkins that we haven’t funded also. It’s one of my favorite days of the year, because we all get really excited about all of the progress that they’re making.
WS: As a rare genetic disorder, how is research into this disease different then something more common like cancer or cardiovascular disease?
TP: Well, there are much smaller numbers of people with Pitt Hopkins Syndrome, so the families are basically raising the money themselves for research. So, we don’t have big organizations. We have no paid solicitors making phone calls or anything like that. So, it’s really grassroots-type fundraising for us, and we are literally doing lemonade stands, 5Ks, bake sales, email campaigns—things like that which we’re doing to raise the money. So, every single dollar really counts for us and we keep our overhead very low. Actually, 93% of all that we raise goes to research directly. It’s actually very, very unusual to have that level going directly to research, and it’s because we have hardly any overhead. We only have to pay for our taxes to be done and we pay for an audit every year of our books to make sure everything is together. And we have some expenses of course with our conference and symposium. But very little.
WS: Other than the financial side and some of the things you talked about before, what other role does your patient advocacy group play?
TP: Well, we have a really robust website where we put a lot of information for families. In our dropdown menu, we have ‘Newly Diagnosed’, where people can look at how they can connect. We have a Facebook page, Facebook Group, Twitter, YouTube videos, Pinterest, Instagram, where we are able to connect and help families understand and connect with each other.
WS: You mentioned that some of what you saw with your son Victor was atypical from what was understood out there. Is that part of what you’re finding—that families have different stories?
TP: Absolutely. There’s a big broad spectrum for Pitt Hopkins. There are some children with Pitt Hopkins that are speaking verbally. But a lot of them use communication devices, often on an iPad. My son does. He wears it. He wears an iPad mini on a harness that drops down over his lap. Its upside down, and he can lift it up and tell us things that way with icons and words. That’s been super helpful because in the past people thought, before we were able to access alternative communication devices with our kids, we weren’t sure about their intellectual capacity. But we really feel that they have a processing problem instead of really an intellectual problem. It’s a little more along the lines of autism in general, where they understand but you have to work out a way to get access, for them to be able let you know what they know. There’s more of a learning disability issue with the kids than was understood before. So, it can be very frustrating for children because they know more than they can tell you which is frustrating for them.
WS: What has PHRF accomplished to date in terms of research funding or other types of examples of working with the medical research community?
TP: In 2012, we awarded our first research grant. Our researchers developed mouse models for Pitt Hopkins Syndrome – so, Pitt Hopkins mice that have the TCF4 gene that is impacting our children, the deletion of that is in their genetics. We want to fund – and we do fund – aggressive treatments for Pitt Hopkins with grants that are looking into compounds, medicines basically, that will help our kids.
So, today we have four medical avenues that we’re pursuing with our grant funding. One is called vorinostat that is a cancer chemotherapy, which has reversed the symptoms of Pitt Hopkins in our mice. Very, very exciting. And that was developed by Dr. David Sweatt, who’s now at Vanderbilt, and Dr. Andrew Kennedy who’s now at Bates College. They were at the University of Alabama, Birmingham. Also, one of our grant recipients is Dr. Brady Maher at the Lieber Institute for Brain Development at John Hopkins. His is with sodium channel blockers. Another avenue is with gene therapy and that’s at UNC Chapel Hill, and that is with Ben Philpot and Steve Gray. And that would be very exciting. And then we have an additional new grant at the Los Angeles Biomedical Research Institute with Michelina Iacovino, which would be a protein replacement approach. We have four avenues because we don’t feel like it would be a good idea to put all of our efforts down one avenue.
WS: What do you think the future holds for research and treatments for Pitt Hopkins and other rare and neglected diseases?
TP: I think that right now there seems to be a really big push into research on rare diseases. All the rare diseases are collectively getting together and saying, “Hey, we’re here!” – combined together they make one big common type of genetic disease category. I think this is the day and age of rare diseases.
For example, with Pitt Hopkins something that’s very exciting for our research is that it’s on the autism spectrum, and it’s very rare to have well-defined genetic causes of autism. There’s only really Pitt Hopkins and Fragile X and maybe a couple other genes that are indicated that cause autism, but there’s not really a great genetic pathway or blood test where we can say, ”This is what’s causing autism.” And so, if we could find a cure for Pitt Hopkins, it could potentially help cure many people with autism that I think do have Pitt Hopkins Syndrome, but are undiagnosed. So that could be very exciting for research into autism.
WS: What can people do to help with rare and neglected diseases in general and with Pitt Hopkins in particular?
TP: I think with rare and neglected diseases in general, since most people do give to non-profits, just to think about giving to some of the rare disease groups as well as the big organizations. Because we’re rare our numbers are low, but we are just as deserving of funding. We do a lot with the money that is provided to us – we are making a big impact.
WS: Fantastic. I hope this interview helps with that and we can help your organization raise some money for this very important cause.
TP: Absolutely and our website is pitthopkins.org. So please come and visit us. We have stories about our kids there, lots of information, pictures of our children and the research that we’re doing. It’s really interesting. And you can follow us on Facebook to keep up to date with the Pitt Hopkins community.
This blog is authored by members of the CDD Vault community. CDD Vault is a hosted drug discovery informatics platform that securely manages both private and external biological and chemical data. It provides core functionality including chemical registration, structure activity relationship, chemical inventory, and electronic lab notebook capabilities.
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Arizona joins several other states that have also successfully proclaimed September 18th as the official day for PTHS awareness, they include: Alabama, Florida, Illinois, Iowa, Missouri, New Jersey (Township of Mantua), Pennsylvania and Texas. Congratulations on achieving this historical milestone! As of the date of publication, the following states are in the process of finalizing their proclamation request: Colorado, Connecticut, Georgia, Michigan, Minnesota, North Carolina, Ohio and Orangeville-Ontario, Canada.
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Alexandra's Pitt Crew 