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Dr. Jones: Birth defects are common. One in 33 babies are born with a birth defect. January is National Birth Defect Awareness Month and today we're talking with a mother of a ÈËÆÞÖгöÊÓƵ with birth defects who is a national advocate for birth defects awareness. This is Dr. Kirtly Jones from Obstetrics and Gynecology at ÈËÆÞÖгöÊÓƵ of Utah ÈËÆÞÖгöÊÓƵ Care and this is the scope of the problem on The Scope.

Announcer: Medical news and research from ÈËÆÞÖгöÊÓƵ of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope.

Dr. Jones: Birth defects are common but we don't have much of a conversation about the issues in our health care. There is some ways that women can decrease the risk of some birth defects but some birth defects we don't understand. Gastroschisis is a condition where the abdominal wall of the baby doesn't close over the internal organs. So they're born with some of these organs outside the body.
This is a devastating condition that can be life limiting but not always. It is however always a shock to the parents. Today in the Scope Radio Studio, we're talking with Kayte Thomas who is a social worker and a co-founder of a national gastroschisis support and advocacy group and she is a mother of a ÈËÆÞÖгöÊÓƵ who is born with gastroschisis. Welcome, Kayte.

Kayte: Hi. Thank you for having me today.

Dr. Jones: Also in the studio is Dr. Marcia Feldkamp from the Department of Pediatrics at the ÈËÆÞÖгöÊÓƵ of Utah who is a researcher in the area of birth defects and gastroschisis specifically. Welcome, Marcia.

Dr. Feldkamp: Thank you very much.

Dr. Jones: So, Kayte, we previously talked on The Scope about ways we can prevent or decrease the risk of some birth defects, but not all are preventable. Tell us a little bit about what happened when you were told about your daughter's diagnosis.

Kayte: Sure. So she was diagnosed with having gastroschisis at the sonogram around 11 1/2 weeks which is about the earliest that can be detected and it was shocking and it was scary. And I was 21 years old and had never heard of this before. I thought that I had no risk of birth defects whatsoever because I was young and healthy. And it was probably the most stunning news I have ever heard, to have a doctor tell you that your ÈËÆÞÖгöÊÓƵ intestines were not properly inside of her body.

Dr. Jones: I think women out in the community think that birth defects happen to older women because they've been told over and over part of the discussion about ÈËÆÞÖгöÊÓƵ bearing in older years is the risk of birth defects. So when it happens to younger women and gastroschisis is actually more common in younger women. Marcia, tell us a little bit about that. How common is it and is it increasing?

Dr. Feldkamp: So gastroschisis, we know the most common and strongest risk factor is young maternal age. So women who are under 20 have the highest risk. Women between 20 and 24 have the next highest risk and then it just really is decreased among women who are 25 years and older and we don't understand why.

Dr. Jones: So Kayte, there you are sitting with the perinatologist, a very young mom and so you started at ground zero in your understanding and your awareness, tell us about your path starting from that visit to where you are now as a national advocate.

Kayte: It's something wonderful that I never planned to do. I never set out to be a birth defects advocate. When I left that first hospital visit I thought that perhaps I was the only person that this would happen to because I have never heard of it. And the doctors had said you probably never meet another person who has a ÈËÆÞÖгöÊÓƵ with this, very rare. It was 1 in 10,000 at the time birth defects and now it has [inaudible 00:03:53] in the last decade. And the first thing I did was go online and try to [inaudible 00:03:57] some information and there was nothing.
There were no support groups, I couldn't find anybody else who'd have the condition. I found a few medical sites that were kind of scarce in their information. I did find one website about a little girl who was 3 years old that have this and I tried to reach out to the mother and found out years later that there was a glitch in her website where she wasn't getting emails. So we did connect years later and now we're very good friends.
But through that website I learned about NORD, the National Organization for Rare Diseases. And I started fundraising because they had a gastroschisis fund. And I promise that if I had ever met just one other mother who would go and do this I would support her because I felt alone. I started talking about this online and to my surprise I didn't meet just one person, I met dozens of people and then hundreds of people. And the next thing I knew other people were saying, "Oh, there is this woman, Kayte Thomas, who knows about this. Let me connect you."

Dr. Jones: And here you are Kayte Thomas. Well, that's me, that's me. Well, so I understand that you are the co-founder of Avery's Angels. Tell us a little bit about Avery's Angels and what does Avery's Angels do for moms who are newly diagnosed?

Kayte: I'm one of the founding members of Avery's Angels. The founder is Meghan Hall and she and I met together towards the end of 2009 and her son had just passed away that July from complications with [inaudible 00:05:34] and so she turned online and was reaching out to others as well. And as either luck or fate would have, we lived in the same town and the same country. And so we met up and we said, "Well, what are we going to do?"
There were five of us initially who started working towards building this non-profit. We now have over 200 volunteers, not only in the United States but in other countries as well. We provide support to families across the life span. It's all peer-to-peer support and we are all volunteer which means that we don't pay ourselves for anything that we do.

Dr. Jones: So, Kayte, you advocate and you support other parents, but you're doing some things nationally. If you were going to tell congress, if you were going to tell doctors what do you want, what would you say?

Kayte: Well, one of the things that I think is very important for the general public to know that it's really not common knowledge. It's that congress has the power to fund all of these monitoring and surveillance programs through these agencies, through the Center for Disease Control. And they're often some of the funds that get cut.
We're not having conversations about this and people aren't aware that they can call their local legislators, or their state legislators and say, "Please [inaudible 00:06:56] birth defects monitoring and surveillance funding because this is important." One of the fact is 1 in 33 members of our next generation. This is a conversation that everybody should be involved in and that everybody should feel is of be of most important.

Dr. Jones: Absolutely. And particularly with gastroschisis, we can't study what we can't measure. In other words, if it's increasing, we need to have the power and the finances to support our outreach to actually monitor from state to state. Tell us a little bit about your daughter. She's 9 now. What does she like to do?

Kayte: Oh, my goodness. She is one of the most fantastic ÈËÆÞÖгöÊÓƵren, not just because I'm biased as a mother. Like most 9 year olds, she enjoys playing with dolls and being with her friends. She dances and she reads every book she can get her hands on. As the moment she wants to be a scientist.

Dr. Jones: Good for her and I understand she has some hearing difficulties but she plays the piano?

Kayte: She does, yeah. She's hearing impaired from another birth defect which affect her ears called microtia atresia but she has been playing piano for six years now. And her piano teacher is also hearing impaired so that's a really good support and role model for her.

Dr. Jones: So, Kayte, I asked you what you wanted as to all our listeners to know about advocacy but you know ÈËÆÞÖгöÊÓƵren with this condition, what would they want us to know?

Kayte: Understand me and support me.

Dr. Jones: Thank you. Thank you. Well, birth defects are common and we need to know more. We need to know more on the causes so we can work toward more on prevention. We need to be able to ask our congress to monitor, give us the resources so that we could actually count the problem and we need more on support. Today, we've opened a little conversation with two national leaders in the field, Kayte and Marcia. And thank you for joining us and thank you all for joining us on The Scope.

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