{"id":18094,"date":"2019-01-10T14:38:20","date_gmt":"2019-01-10T19:38:20","guid":{"rendered":"https:\/\/www.med.unc.edu\/medicine\/news\/chairs-corner\/podcasts\/fabry-disease-with-jerry-walter-and-dr-gerald-hladik\/"},"modified":"2023-08-04T13:56:31","modified_gmt":"2023-08-04T17:56:31","slug":"fabry-disease","status":"publish","type":"episode","link":"https:\/\/www.med.unc.edu\/medicine\/news\/chairs-corner\/podcast\/fabry-disease\/","title":{"rendered":"Fabry disease &#8211; with Jerry Walter and Dr. Gerald Hladik"},"content":{"rendered":"<p class=\"lead\">Fabry disease is an inherited disorder related to an enzyme deficiency and causes many symptoms. This discussion on Fabry disease features both a patient who has this condition, Jerry Walter, and nephrologist Dr. Gerald Hladik, who is the Doc. J Thurston Distinguished Professor of Medicine and Chief of the UNC Division of Nephrology and Hypertension.<\/p>\n<!--[if lt IE 9]><script>document.createElement('audio');<\/script><![endif]-->\n\t<div class=\"wp-playlist wp-audio-playlist wp-playlist-light\">\n\t\t\t<div class=\"wp-playlist-current-item\"><\/div>\n\t\t<audio controls=\"controls\" preload=\"none\" width=\"1118\"\n\t\t\t><\/audio>\n\t<div class=\"wp-playlist-next\"><\/div>\n\t<div class=\"wp-playlist-prev\"><\/div>\n\t<noscript>\n\t<ol>\n\t\t<li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/03\/fabry-disease.mp3'>Full-Length Track<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-what-is-it.mp3'>A genetic disease causing an enzyme deficiency<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-diagnosis.mp3'>Diagnosing Fabry disease<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-concerns.mp3'>Common concerns that people with Fabry have<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-jerry.mp3'>Jerry\u2019s diagnosis<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-symptoms.mp3'>Experiencing and coping with symptoms<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-adapting.mp3'>Learning to adapt<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-hearing.mp3'>Hearing loss with Fabry disease<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-foundation.mp3'>How the National Fabry Disease Foundation got started<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-partner.mp3'>Having a supportive partner<\/a><\/li><li><a class=\"thumbnail img-thumbnail\" href='https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2019\/01\/fabry-message.mp3'>A message of hope about Fabry<\/a><\/li>\t<\/ol>\n\t<\/noscript>\n\t<script type=\"application\/json\" class=\"wp-playlist-script\">{\"type\":\"audio\",\"tracklist\":true,\"tracknumbers\":true,\"images\":true,\"artists\":true,\"tracks\":[{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/03\\\/fabry-disease.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"Full-Length Track\",\"caption\":\"\",\"description\":\"\\\"Fabry disease - with Jerry Walter &amp; Dr. Gerald Hladik\\\" from Fabry disease - with Jerry Walter &amp; Dr. Gerald Hladik by UNC Department of Medicine - Dr. Ron Falk. Released: 2018. Genre: \\\"Easy Lemon (30 second)\\\" Kevin MacLeod (incompetech.com) Licensed under Creative Commons: By Attribution 3.0 License http:.\",\"meta\":{\"artist\":\"UNC Department of Medicine - Dr. Ron Falk\",\"album\":\"Fabry disease - with Jerry Walter &amp; Dr. Gerald Hladik\",\"genre\":\"\\\"Easy Lemon (30 second)\\\" Kevin MacLeod (incompetech.com) Licensed under Creative Commons: By Attribution 3.0 License http:\",\"year\":\"2018\",\"length_formatted\":\"25:52\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-what-is-it.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"A genetic disease causing an enzyme deficiency\",\"caption\":\"\",\"description\":\"\\\"fabry-what-is-it\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"5:00\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-diagnosis.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"Diagnosing Fabry disease\",\"caption\":\"\",\"description\":\"\\\"fabry-diagnosis\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"2:35\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-concerns.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"Common concerns that people with Fabry have\",\"caption\":\"\",\"description\":\"\\\"fabry-concerns\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"1:01\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-jerry.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"Jerry\\u2019s diagnosis\",\"caption\":\"\",\"description\":\"\\\"fabry-jerry\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"1:50\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-symptoms.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"Experiencing and coping with symptoms\",\"caption\":\"\",\"description\":\"\\\"fabry-symptoms\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"5:11\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-adapting.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"Learning to adapt\",\"caption\":\"\",\"description\":\"\\\"fabry-adapting\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"3:40\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-hearing.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"Hearing loss with Fabry disease\",\"caption\":\"\",\"description\":\"\\\"fabry-hearing\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"1:36\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-foundation.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"How the National Fabry Disease Foundation got started\",\"caption\":\"\",\"description\":\"\\\"fabry-foundation\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"1:36\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-partner.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"Having a supportive partner\",\"caption\":\"\",\"description\":\"\\\"fabry-partner\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"0:57\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}},{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/uploads\\\/sites\\\/945\\\/2019\\\/01\\\/fabry-message.mp3\",\"type\":\"audio\\\/mpeg\",\"title\":\"A message of hope about Fabry\",\"caption\":\"\",\"description\":\"\\\"fabry-message\\\". Released: 2019.\",\"meta\":{\"year\":\"2019\",\"length_formatted\":\"0:48\"},\"image\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64},\"thumb\":{\"src\":\"https:\\\/\\\/www.med.unc.edu\\\/medicine\\\/wp-content\\\/plugins\\\/media-library-assistant\\\/images\\\/crystal\\\/audio.png\",\"width\":48,\"height\":64}}]}<\/script>\n<\/div>\n\t\n<div class=\"image-section\">\n<figure class=\"thumbnail wp-caption alignright\" style=\"width: 189px\"><img loading=\"lazy\" decoding=\"async\" class=\"alignright\" src=\"https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2018\/12\/fabry-disease-image2.jpeg\" alt=\"Jerry Walter\" width=\"189\" height=\"126\" \/><figcaption class=\"caption wp-caption-text\">Jerry Walter<\/figcaption><\/figure>\n<figure class=\"thumbnail wp-caption alignright\" style=\"width: 225px\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2018\/12\/fabry-disease-image3.jpeg\" alt=\"image3\" width=\"225\" height=\"150\" \/><figcaption class=\"caption wp-caption-text\">Gerald Hladik, MD<\/figcaption><\/figure>\n<\/div>\n<h4>\u201cGrowing up, I didn\u2019t know I had Fabry disease, as is the case in most families. So, things were hard sometimes. Physical activity was hard, being in the heat was hard\u2026It all made sense later on in life when I was diagnosed.\u201d<\/h4>\n<h4>\u2013 Jerry Walter<\/h4>\n<p><b>Ron Falk: <\/b>Hello, and welcome to the Chair\u2019s Corner from the Department of Medicine at the University of North Carolina.<\/p>\n<p>As the newest addition to our series where we discuss different genetic diseases, today we will talk about Fabry disease. We are going to be talking about Fabry disease with a patient who has this condition, Jerry Walter, and with his kidney doctor, Dr. Gerald Hladik.<\/p>\n<p>We welcome today United States Army Colonel Jerry Walter, who has Fabry disease. He also is the founder and president of the <a class=\"external-link\" title=\"\" href=\"https:\/\/www.fabrydisease.org\" target=\"_blank\" rel=\"noopener\">National Fabry Disease Foundation<\/a>.<\/p>\n<p>We welcome <a class=\"external-link\" title=\"\" href=\"https:\/\/unckidneycenter.org\/directory\/gerald-hladik\" target=\"_blank\" rel=\"noopener\">Dr. Gerald Hladik<\/a>, who treats Jerry for his kidney disease, for Fabry\u2019s. Dr. Hladik is the Doc J. Thurston Distinguished Professor of Medicine and Chief of the Division of Nephrology and Hypertension at UNC.<\/p>\n<p>Welcome, Jerry Walter and Jerry Hladik.<\/p>\n<p><b>Jerry Walter: <\/b>Thank you, Dr. Falk.<\/p>\n<p><b>Gerald Hladik, MD: <\/b>Thanks so much.<\/p>\n<h3><span class=\"blue\">A genetic disease causing an enzyme deficiency <\/span><\/h3>\n<p><b>Falk: <\/b>Let\u2019s begin by asking the question of, what is Fabry\u2019s disease?<\/p>\n<p><b>Hladik:<\/b>Fabry\u2019s disease is an inherited, X-linked genetic lysosomal storage disease. The lysosomes are that part of the cell that basically help recycle materials in the cell. Basically, they are your body\u2019s cellular digestive system. What happens in Fabry\u2019s disease is a deficiency of a very important enzyme called alpha-galactosidase A, which results from a genetic mutation.<\/p>\n<p>This enzyme deficiency leads to a buildup of a fatty material in the cell, that mucks up the cell\u2014it\u2019s called a substrate. The formal name is globotriaosylceramideor GL-3 in blood vessels. It affects the kidneys, the heart, the nerves, and essentially every cell and organ in the body.<\/p>\n<p><b>Falk:<\/b>So just in brief, then, Fabry disease is a disease where the cell can\u2019t get rid of a normal product that is supposed to be digested, that is supposed to be metabolized, and now, because of an enzyme deficiency, that material accumulates.<\/p>\n<p><b>Hladik: <\/b>Precisely.<\/p>\n<p><b>Falk: <\/b>And an enzyme is something that normally breaks down proteins, fats, and carbohydrates. We all have them\u2014it\u2019s how you digest food. You break down food by a variety of enzymes. This is an enzyme that\u2019s in a cell, trying to help process a normal constituent of all of us.<\/p>\n<p><b>Hladik: <\/b>Correct, and within the cell of Fabry disease, the culprit is a fatty material.<\/p>\n<p><b>Falk: <\/b>That fat, then, accumulates inside the cell, damaging the cell\u2019s ability to function.<\/p>\n<p><b>Hladik: <\/b>Correct.<\/p>\n<p><b>Falk: <\/b>When that cell becomes damaged, it will have different effects, depending upon where that cell was. If it\u2019s in the kidney, it would damage the kidney. If it were in another part of the body, it could potentially damage another part of the body.<\/p>\n<p><b>Hladik: <\/b>Precisely, and we know that the organs that are predominantly involved are the kidney, the heart, the vasculature\u2014and that has ramifications for injury to the brain, for example.<\/p>\n<p><b>Falk: <\/b>When you say vasculature, you\u2019re talking about blood vessels everywhere?<\/p>\n<p><b>Hladik: <\/b>Everywhere.<\/p>\n<p><b>Falk: <\/b>All sizes?<\/p>\n<p><b>Hladik: <\/b>All sizes, virtually every cell in the body. This accumulation starts very early. In fact, you can see accumulation of these fat byproducts at the level of the placenta.<\/p>\n<p><b>Falk: <\/b>From the very outset, this lack of this enzyme results in accumulation over time of deposits of this material.<\/p>\n<p><b>Hladik: <\/b>That\u2019s right.<\/p>\n<p><b>Falk: <\/b>The material is called..?<\/p>\n<p><b>Hladik: <\/b>Globotriaosylceramideor GL-3 for short.<\/p>\n<p><b>Falk: <\/b>That\u2019s easier to say than trying to say the whole name. If one could have the enzyme and give it back, it would help ameliorate the condition.<\/p>\n<p><b>Hladik: <\/b>Right, it doesn\u2019t cure, but it certainly does delay the progression of the disease.<\/p>\n<p><b>Falk: <\/b>There are different kinds of Fabry\u2019s disease, is that right?<\/p>\n<p><b>Hladik: <\/b>Yes, there are. The most well-known form of Fabry\u2019s disease that comes to attention, so-called \u201cclassic Fabry\u201d manifests during childhood, with episodes of painful crises. These are episodes of severe pain due to neuronal injury that lasts several hours to days. They\u2019re triggered by stress, lack of sleep, extremes of temperature, and even physical exertion. This begins in childhood. Children also experience a variety of GI symptoms\u2014diarrhea, nausea, vomiting, abdominal pain\u2014they may have heat or cold intolerance. In fact, they\u2019re unable to effectively sweat.<\/p>\n<p><b>Falk: <\/b>Those are the conditions that are primarily seen in children.<\/p>\n<p><b>Hladik: <\/b>That\u2019s right, and then by the time of adolescence, we start to see organ injury.<\/p>\n<p><b>Falk: <\/b>But there are all types of what is encompassed under the term Fabry\u2019s.<\/p>\n<p><b>Hladik: <\/b>That\u2019s right, there are some non-classic forms. There\u2019s a cardiac variant that often presents later in life, and there are certain mutations that cause a renal variant that may not have primary injury to nerves, for example.<\/p>\n<p><b>Falk: <\/b>They are more difficult to diagnose, because they don\u2019t have this systemic total body presentation.<\/p>\n<p><b>Hladik: <\/b>That\u2019s correct, and in fact, with the cardiac variant, it\u2019s estimated that perhaps three percent of patients who have unexplained left ventricular hypertrophy later in adulthood may in fact have the cardiac variant of Fabry disease.<\/p>\n<h3><span class=\"blue\">Diagnosing &amp; treating Fabry disease<\/span><\/h3>\n<p><b>Falk: <\/b>How then, do you diagnose Fabry disease, especially in an older individual, in whom the classic manifestations in childhood are not apparent?<\/p>\n<p><b>Hladik: <\/b>Well, certainly you have to look at the family history to see if there\u2019s this pattern of an X-linked inheritance of cardiomyopathy in a family that remains unexplained.<\/p>\n<p><b>Falk: <\/b>What\u2019s a cardiomyopathy?<\/p>\n<p><b>Hladik: <\/b>That\u2019s an injury to the heart where the heart no longer functions normally. The pumping of the heart is impaired.<\/p>\n<p><b>Falk: <\/b>The muscle is no longer able to contract like it should.<\/p>\n<p><b>Hladik: <\/b>Correct.<\/p>\n<p><b>Falk: <\/b>What about other organs? How do you detect it there?<\/p>\n<p><b>Hladik: <\/b>The best way to detect it in organs is with biopsy, but we rarely have to do this, because we can often make the diagnosis with blood or genetic testing.<\/p>\n<p><b>Falk: <\/b>What kind of tests are there?<\/p>\n<p><b>Hladik: <\/b>There\u2019s an enzyme that we can measure in the blood. We can actually measure alpha-galactosidase A, and that\u2019s what we use to diagnose the disease in men.<\/p>\n<p>A level less than three percent essentially makes the diagnosis. Now you have milder forms where the enzyme is between three and thirty-five percent, and in that range in males, further genetic testing is necessary to make a definitive diagnosis. It turns out, in females, that measuring the enzyme level in the blood is not sufficient to make a diagnosis. In those cases, you actually have to do genetic testing.<\/p>\n<p><b>Falk: <\/b>Are we now past the era when one has to do a biopsy? For example, a kidney biopsy to determine whether a patient has Fabry\u2019s disease?<\/p>\n<p><b>Hladik: <\/b>Well, there are, in rare circumstances, patients who may have a borderline low enzyme level activity, where there is kidney disease that\u2019s otherwise unexplained, where you may want to consider doing a renal biopsy.<\/p>\n<p><b>Falk: <\/b>How often does a biopsy need to happen, when compared to ten or fifteen years ago?<\/p>\n<p><b>Hladik: <\/b>I would say it\u2019s quite rare. I can\u2019t put a number on it, but I have not had to do this in my clinical experience.<\/p>\n<p><b>Falk: <\/b>Because the enzyme testing and the genetic testing is now so good.<\/p>\n<p><b>Hladik: <\/b>That\u2019s right.<\/p>\n<p><b>Falk: <\/b>How then, does one treat Fabry disease, of all kinds?<b> <\/b><\/p>\n<p><b>Hladik: <\/b>The cornerstone of therapy is enzyme replacement therapy. This became available in the US in 2003, it was available in Europe in 2001. Now, it\u2019s not cheap, and it\u2019s not convenient. It requires an intravenous infusion every two weeks. <b> <\/b><\/p>\n<p><b>Falk: <\/b>Wow. We\u2019re going to talk more about that enzyme replacement therapy in a subsequent podcast, so let\u2019s move back to the patient and your interaction with them.<\/p>\n<h3><span class=\"blue\">Common concerns that people with Fabry have<\/span><\/h3>\n<p><b>Falk: <\/b>When you see someone with Fabry for the first time, what kind of concerns are the most common?<\/p>\n<p><b>Hladik: <\/b>As you can imagine, there are many concerns. One of the biggest concerns is fear of what lies ahead. There\u2019s also a lot of questions that arise. Patients ask, \u201c<i>How will I suffer? Can I lead a normal life? How will this impact my family? Can I have children? What\u2019s the risk of passing the disease on to children? What about the pain of Fabry disease\u2014can it be controlled?\u201d <\/i><\/p>\n<p><b>Falk: <\/b>Why is there pain? Is that because of the neuropathy?<\/p>\n<p><b>Hladik: <\/b>That\u2019s correct. Remember, during childhood that\u2019s often one of the first manifestations of disease\u2014these painful crises.<\/p>\n<p><b>Falk: <\/b>And how do you answer all those questions?<\/p>\n<p><b>Hladik: <\/b>Well, I think what we want to do first is give patients hope that there is effective treatment for Fabry, that the outcomes have improved considerably, and that we\u2019re on the cusp of new discoveries that will help transform treatment and improve their lives in the future.<\/p>\n<h3><span class=\"blue\">Jerry\u2019s diagnosis <\/span><\/h3>\n<p><b>Falk: <\/b>Jerry Walter, you are a patient with Fabry\u2019s disease, and someone who had an illustrious career in the armed forces, and now are the president of the National Fabry Disease Foundation. Tell us a little bit more about you.<\/p>\n<p><b>Walter: <\/b>Thanks, Dr. Falk. I learned I had Fabry disease when I was about twenty-five years old\u2014not through testing, but my mother was in the hospital for an unrelated issue. The physician noticed that her eyes were bulging, and bulging eyes is not a symptom of Fabry disease. But it caused the physician to look closer, and he found a characteristic corneal whorling that\u2019s in the majority of people with Fabry disease. She was diagnosed, which led to about eighteen other people in my family being diagnosed with Fabry disease.<\/p>\n<p><b>Falk: <\/b>By chance, in other words. Because eye bulging is definitely not part of this disease.<\/p>\n<p><b>Walter: <\/b>That\u2019s right.<b> <\/b><\/p>\n<p><b>Falk: <\/b>It made the physician look more closely at your mother\u2019s eyes.<\/p>\n<p><b>Walter: <\/b>Yes, very fortunate for our family, and for the health and well-being of everyone.<\/p>\n<p><b>Falk: <\/b>Tell us a little more about you, after the discovery in your mom.<\/p>\n<p><b>Walter: <\/b>I\u2019d like to go back a little further. Growing up, I didn\u2019t know I had Fabry disease, as is the case in most families. So, things were hard sometimes. Physical activity was hard, being in the heat was hard. I had low self-esteem because of the things I couldn\u2019t do. You know, I always felt a little bit inadequate because of limitations. It all made sense later on in life when I was diagnosed.<\/p>\n<h3><span class=\"blue\">Experiencing and coping with symptoms<\/span><\/h3>\n<p><b>Falk: <\/b>Let\u2019s go through those symptoms in a little bit more detail. What does heat do to somebody who has Fabry\u2019s?<\/p>\n<p><b>Walter: <\/b>Well, we don\u2019t sweat properly, so anhidrosis or hypohidrosis\u2014reduced sweating or absence of sweating causes pain, makes you feel bad. Life is hard in that way. If you get out in the sun where you exercise too much, and you don\u2019t sweat, it makes you feel bad and gives you pain. It triggers the peripheral neuropathy I think that happens with Fabry.<\/p>\n<p><b>Falk: <\/b>When did you enter the armed forces?<\/p>\n<p><b>Walter: <\/b>Initially when I was eighteen years old.<\/p>\n<p><b>Falk: <\/b>Help me understand\u2014you had a diagnose of Fabry\u2019s made at the age of twenty-five and you must have gone through basic training when you were eighteen. How on earth did that work?<\/p>\n<p><b>Walter: <\/b>Well, I think we found that it\u2019s common for kids to have a lot of the initial symptoms of Fabry disease&#8211;pain, lack of sweating, GI issues&#8211;then for many children they get better as they become older teens and on through their early twenties. You seem to get a reprieve. Then I think that will end. Along with the fact that I started in the Air Force, that wasn\u2019t as bad as the Army, so you only had to do a one mile run once a year in the Air Force to pass your physical fitness test. That helped quite a bit.<\/p>\n<p><b>Falk: <\/b>That\u2019s not true in the Army, though.<\/p>\n<p><b>Walter: <\/b>That\u2019s not true, no.<\/p>\n<p><b>Falk: <\/b>You were in both, the Air Force and the Army, so you managed to get through basic training at the age of eighteen.<\/p>\n<p><b>Walter: <\/b>Right. I think I had a reprieve in symptoms, which helped\u2014not entirely, because I still struggled quite a bit. I was an underachiever in the Air Force physically. More so in the army. I got out of the military after eight years in the air force, went to school, got back in the military, and then I went through some really, really difficult times physically but I just seemed to always get through it.<\/p>\n<p><b>Falk: <\/b>Explain or describe some of those difficult times.<\/p>\n<p><b>Walter: <\/b>Well, they made us sweat a lot more, or made us do things that would cause people to sweat a lot more, but of course, I didn\u2019t, so I overheated easily.<\/p>\n<p><b>Falk: <\/b>Did you pass out?<\/p>\n<p><b>Walter: <\/b>I never passed out. The worst situation I could remember, was we were on a fifteen-mile road march in the Army. Luckily, it was at night, and it was raining a little bit, which made it better for me, but still the kind of hot and tired that I was, was different than most of the people around me.<\/p>\n<p>By the end of the road march, everyone had something of mine\u2014someone was carrying my weapon and my rucksack, my canteens, and everything. I had my shirt off and was dumping canteens of water over my head, I was beet red in the face, but I made it. At the end of the march, of course I had lost control of my bodily functions, I was really in tough shape\u2014but I survived the march. That\u2019s sort of the story of my entire military career: I survived it.<\/p>\n<p><b>Falk: <\/b>But that\u2019s quite the story of that march, because you had no idea why you couldn\u2019t do it.<\/p>\n<p><b>Walter: <\/b>Right. As a kid, it was always the same. I would have to stop doing things other kids were doing. We would play baseball and I would have to quit early. We would do one thing or another, and I would quit early. I always walked away hanging my head, thinking it was just me, I wasn\u2019t tough enough. Of course, I had six brothers, which made that even worse. Some of them were over-achievers physically and I was the underachiever.<\/p>\n<p><b>Falk: <\/b>As you have moved on in age, what are the symptoms that have bothered you now the most?<\/p>\n<p><b>Walter: <\/b>So, we can separate the symptoms into two things\u2014quality of life, and life-threatening. The quality of life symptoms of course are pain and chronic GI problems which have ruined my life from time to time..<\/p>\n<p><b>Falk: <\/b>Diarrhea?<\/p>\n<p><b>Walter: <\/b>For me, irritable bowel syndrome, like diarrhea symptoms. So, I just did the best I could. I could get some medications that would help a little bit, but it wasn\u2019t until enzyme replacement therapy that that really got better.<\/p>\n<p>Today, it still flares up. Pain, overheating from not sweating, GI symptoms, were always bad. Of course, later on in life it turns into heart disease, kidney disease, lung disease\u2014which I have all of. I have a pacemaker defibrillator, thickening of the left ventricular wall of the heart. Chronic kidney disease\u2014but for me, unlike a lot of people with Fabry, my kidneys have held up pretty well, so I\u2019m chronic kidney disease stage one and I seem to be stable, thanks to Dr. Hladik for keeping me that way.<\/p>\n<p>My heart has caused me some problems\u2014that\u2019s the worst thing that\u2019s going on with me now.<\/p>\n<h3><span class=\"blue\">Learning to adapt <\/span><\/h3>\n<p><b>Falk: <\/b>Through all of this, how have you managed your career? \u2013 because you\u2019ve managed it incredibly well.<\/p>\n<p><b>Walter: <\/b>Well, I think fortunately for me, being an underachiever physically, and being on the bottom of the pile, I did a lot of things to make myself an overachiever in other ways. I learned skills: I became a strategic planner, an operations officer, I did courses on analytical decision making on lots of other things. They made me a financial manager. So, I took these courses and learned extra skills and became more valuable to the organizations I\u2019ve worked for. They could easily have overlooked me, being an underachiever in the physical department, but I always passed the test.<\/p>\n<p>Although, I would say that for a person with Fabry disease, for instance, you get a lot of chronic swelling, edema, in the lower legs. Anytime that I thought I was in trouble on a given day that we were doing a physical activity, a test, I could go to the clinic and say, <i>\u201cLook at my legs,\u201d<\/i>and get a reprieve for a short time. You always had go back and make it up, but on days I knew I wasn\u2019t going to do well, I got a break, went back and took my test a week later, and would pass it. I found ways to compensate and to get through, and then later on was behind a desk the last two-thirds of my career.<\/p>\n<p><b>Falk: <\/b>Anybody with a chronic condition learns how to adapt, and everybody who learns to adapt figures it out best for themselves.<\/p>\n<p><b>Walter: <\/b>Right. It wasn\u2019t always easy, but it worked. I felt guilty sometimes taking that road and saying I can\u2019t do this, knowing if I do this today I\u2019m going to fail, so I\u2019m going to do it another day when I have a better chance of passing.<\/p>\n<p><b>Falk: <\/b>How would you help patients who have that same feeling of guilt get over the guilt?<\/p>\n<p><b>Walter: <\/b>Well, I talk to patients all the time, and I tell people that you\u2019re going to find things you can\u2019t do, but I tell people, \u201c<i>Try everything, see what you can do. If you can\u2019t do something, do something else. If you can\u2019t run, ride a bike. If you can\u2019t ride a bike, walk. Find other ways to stay healthy, physically and mentally.\u201d Don\u2019t feel bad about what you can\u2019t do. It\u2019s not your fault that you have Fabry disease, it\u2019s not your fault that these things happen.\u201d<\/i><\/p>\n<p><b>Falk: <\/b>Right. One feels guilty about not being able to do things at times, but in reality, with Fabry\u2019s and other genetic diseases, there really should be no guilt, because there\u2019s nothing the individual can do anything about.<\/p>\n<p><b>Walter: <\/b>The feeling that people should have is just the opposite. They should be proud that they\u2019ve overcome a lot of these things and they push through them, they make it work, and they have successful lives and successful careers and manage what they have to deal with.<\/p>\n<p><b>Falk: <\/b>Regardless of the obstacles.<\/p>\n<p><b>Walter: <\/b>Right.<\/p>\n<p><b>Falk: <\/b>When did you meet Dr. Hladik?<\/p>\n<p><b>Walter: <\/b>Same time I met you, in 2008. I came to UNC for an unrelated problem\u2014I had bacteremia. I had life-threatening bacteremia. It was the second bacteremia infection I had had in a year. You introduced me to Dr. Hladik, and we\u2019ve been great partners ever since.<\/p>\n<h3><span class=\"blue\">Hearing loss with Fabry disease<\/span><\/h3>\n<p><b>Falk: <\/b>You\u2019re wearing a hearing aid. Tell us about hearing loss in Fabry\u2019s.<\/p>\n<p><b>Walter: <\/b>Well, hearing loss can happen suddenly or progressively. In my case, it\u2019s been a progression. Hearing loss is usually complicated by other factors, other than just Fabry disease. In my case, Fabry disease is responsible for part of my hearing loss. I also worked around jet engines for many years, and I had bacterial meningitis, which took quite a bit. But in most people with Fabry disease, hearing loss is a concern. Mine was progressive. It\u2019s one of the symptoms that doesn\u2019t tend to start early. So, later in life you start losing your hearing, as many people do, but the loss can be much greater and often more sudden with Fabry disease.<\/p>\n<p><b>Falk: <\/b>Loud noises are not good for anyone with any kind of hearing loss.<\/p>\n<p><b>Walter: <\/b>I think it\u2019s hard to deal with, but with all the technology today, I have hearing aids, I have this device I carry around with me sometimes. It\u2019s a microphone that plugs right into my hearing aid. You can get other devices that help\u2014I have a special phone. My hearing loss is pretty profound. Without hearing aids, I can\u2019t hear anything, but I have the tools to keep me viable and communicating with the world.<\/p>\n<p><b>Falk: <\/b>That\u2019s wonderful.<\/p>\n<h3><span class=\"blue\">How the National Fabry Disease Foundation got started<\/span><\/h3>\n<p><b>Falk: <\/b>Tell me about the National Fabry Disease Foundation and how it helps people with Fabry\u2019s.<\/p>\n<p><b>Walter: <\/b>In 2005, I thought I was going to retire from the military in 2007. I was on my way to Washington, DC to retire the next day. Instead of retiring, I went into a coma.<\/p>\n<p>I got to DC and I was disoriented, I made it to the clinic and gave them my wife\u2019s phone number. They said <i>\u201cLet\u2019s get your vitals,\u201d <\/i>and I said, <i>\u201cYou better write this down.\u201d <\/i>A couple minutes later, I went into a coma.<\/p>\n<p>I had severe bacterial meningitis and they told Angela I probably wouldn\u2019t live through the night. That postponed my retirement. You can\u2019t retire from a coma, and that put me in a situation where I went into a medical retirement process. The military kept me for four more years. I didn\u2019t actually retire from the military until 2011. Meanwhile, I wasn\u2019t up to speed for doing most things and I started the National Fabry Disease Foundation in 2005 intending to retire in 2007, and I didn\u2019t, so my job while I was on medical retirement process was just forming the organization.<\/p>\n<h3><span class=\"blue\">Having a supportive partner<\/span><\/h3>\n<p><b>Falk: <\/b>What\u2019s it like being married with Fabry\u2019s disease?<\/p>\n<p><b>Walter: <\/b>Well, in my case, my wife is also very educated about Fabry disease. She\u2019s a genetic counselor and I have the perfect partner to help me get through everything that I deal with on a daily basis. Between us, we\u2019re pretty tough.<\/p>\n<p><b>Falk: <\/b>Patients with any kind of chronic disease, any kind of chronic condition, having a partner to help with all the vicissitudes that confront one is just so important. <b> <\/b><\/p>\n<p><b>Walter: <\/b>Right, and she just understands. I think I\u2019m a pretty tough guy, but she understands when I can\u2019t do something or when we have to stop doing things because of Fabry.<\/p>\n<h3><span class=\"blue\">A message of hope about Fabry<\/span><\/h3>\n<p>&nbsp;<\/p>\n<figure class=\"thumbnail wp-caption alignright\" style=\"width: 348px\"><img loading=\"lazy\" decoding=\"async\" title=\"Fabry family camp at Victory Junction\" src=\"https:\/\/www.med.unc.edu\/medicine\/wp-content\/uploads\/sites\/945\/2018\/12\/fabry-family-camp-at-victory-junction.jpeg\" alt=\"Fabry family camp at Victory Junction\" width=\"338\" height=\"400\" \/><figcaption class=\"caption wp-caption-text\">Children and their families enjoy a Fabry family weekend camp every year at Victory Junction in Randleman, NC, hosted by the National Fabry Disease Foundation \/ Photo by the National Fabry Disease Foundation<\/figcaption><\/figure>\n<p>Falk: Right. One last and final question for each of you. If you could share one message for people about Fabry disease, what would it be? Dr. Hladik, let\u2019s start with you.<\/p>\n<p><b>Hladik: <\/b>I think the key is that there\u2019s hope on the horizon, and I think Jerry will tell you about how things have improved in his lifetime, so never lose hope.<\/p>\n<p><b>Walter: <\/b>I think that we\u2019ve come so far, and the prognosis for people with Fabry disease is much brighter than it used to be. We have a definitive laboratory test, we have two treatments that are available and more to come. We have many symptoms that can be recognized to diagnose Fabry, so diagnosis is improving. I think our outlook for people with Fabry disease is much brighter than it ever was.<\/p>\n<p><b>Falk: <\/b>Thank you, Jerry Walter, and thank you Jerry Hladik, for joining us today.<\/p>\n<p><b>Hladik: <\/b>Thank you.<\/p>\n<p><b>Walter: <\/b>It\u2019s been a pleasure to be here.<b> <\/b><\/p>\n<p><b>Falk: <\/b>Thanks so much to our listeners for tuning in. We will be recording another episode with Jerry and Dr. Hladik focused on new treatment for Fabry disease, one of which is called Galafold. Please stay tuned. You can subscribe to the Chair\u2019s Corner on <a href=\"https:\/\/itunes.apple.com\/us\/podcast\/unc-department-of-medicine-chairs-corner\/id1076686662?mt=2\" target=\"_blank\" rel=\"noopener\">iTunes<\/a>, <a href=\"https:\/\/soundcloud.com\/chairscorner\" target=\"_blank\" rel=\"noopener\">SoundCloud<\/a>, or <a href=\"https:\/\/www.facebook.com\/UNCDeptMedicine\" target=\"_blank\" rel=\"noopener\">like us on FaceBook<\/a>.<\/p>\n<p>&nbsp;<\/p>\n<div class=\"alert alert-blue width:100% \">\n<ul>\n<li><strong>National Fabry Disease Foundation:<\/strong><br \/>\n<a class=\"external-link\" title=\"\" href=\"https:\/\/www.fabrydisease.org\" target=\"_blank\" rel=\"noopener\">Website,<\/a> <a class=\"external-link\" title=\"\" href=\"http:\/\/www.facebook.com\/FabryDisease\" target=\"_blank\" rel=\"noopener\">Facebook<\/a>, <a class=\"external-link\" title=\"\" href=\"http:\/\/www.twitter.com\/FabryDisease1\" target=\"_blank\" rel=\"noopener\">Twitter<\/a>, <a class=\"external-link\" title=\"\" href=\"http:\/\/www.youtube.com\/user\/TheNFDF\" target=\"_blank\" rel=\"noopener\">YouTube<\/a><\/li>\n<li><a class=\"external-link\" title=\"\" href=\"https:\/\/www.med.unc.edu\/medicine\/directory\/gerald-hladik\/\" target=\"_blank\" rel=\"noopener\">Dr. Gerald Hladik&#8217;s School of Medicine profile<\/a><\/li>\n<\/ul>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Fabry disease is an inherited disorder related to an enzyme deficiency and causes many symptoms. This discussion on Fabry disease features both a patient who has this condition, Jerry Walter, and a nephrologist, Dr. Gerald Hladik. Dr. Hladik is the Doc J Thurston Distinguished Professor of Medicine and Chief of the UNC Division of Nephrology and Hypertension.<\/p>\n","protected":false},"featured_media":4132,"menu_order":0,"template":"","meta":{"_acf_changed":false,"layout":"","cellInformation":"","apiCallInformation":"","_links_to":"","_links_to_target":""},"podcast-category":[633,664,639],"class_list":["post-18094","episode","type-episode","status-publish","has-post-thumbnail","hentry","podcast-category-podcast-genetic-diseases-podcast","podcast-category-podcast-patient-stories","podcast-category-podcast","odd"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Fabry disease - with Jerry Walter and Dr. Gerald Hladik | Department of Medicine<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.med.unc.edu\/medicine\/news\/chairs-corner\/podcast\/fabry-disease\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Fabry disease - with Jerry Walter and Dr. Gerald Hladik | Department of Medicine\" \/>\n<meta property=\"og:description\" content=\"Fabry disease is an inherited disorder related to an enzyme deficiency and causes many symptoms. This discussion on Fabry disease features both a patient who has this condition, Jerry Walter, and a nephrologist, Dr. Gerald Hladik. 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