{"id":1944,"date":"2019-03-01T08:08:17","date_gmt":"2019-03-01T08:08:17","guid":{"rendered":"https:\/\/www.mc.vanderbilt.edu\/vanderbiltmedicine\/?p=1944"},"modified":"2021-08-11T19:36:22","modified_gmt":"2021-08-11T19:36:22","slug":"outgrowing-childhood-diseases","status":"publish","type":"post","link":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/outgrowing-childhood-diseases\/","title":{"rendered":"Outgrowing Childhood Diseases"},"content":{"rendered":"
\"\"<\/a>
Marissa Benchea, 42, has surpassed the average life expectancy for cystic fibrosis. Photograph by Marc Pagani.<\/figcaption><\/figure>\n

Before the 1950s, it was rare for a baby born with cystic fibrosis (CF) to survive to more than 5 or 6 years of age. In 1962 the median survival was about 10 years with few surviving into their teen years, according to the National Institutes of Health. During the 1980s, the average lifespan increased to 14-20, and today, thanks to dramatic improvements in the medications used to treat the disease, it\u2019s 37, with many patients living into their 50s and 60s.<\/p>\n

But those are only numbers for 42-year-old Marissa Benchea, diagnosed at birth with CF, an inherited disease of the mucus and sweat glands primarily affecting the lungs, pancreas, liver, intestines, sinuses and sex organs. Benchea has been a patient at Vanderbilt since she was 15.<\/p>\n

Benchea is one of hundreds of thousands of adults not only surviving but thriving with a chronic childhood disease \u2014 thanks to improved medications, treatments, interventions and medical surveillance.<\/p>\n

 <\/p>\n

An isolating and invisible disease<\/strong><\/p>\n

Patients in the adult CF program at Vanderbilt range in age from 18 to 76, although patients in their 70s usually have atypical CF, a milder form diagnosed later in life, said James Tolle, MD, assistant professor of Medicine.<\/p>\n

Today\u2019s longer life expectancy can be linked to many improvements in care, starting with earlier diagnosis. Since 2008 every child born in the U.S. is screened for CF within 24 hours of birth.<\/p>\n

And there have been numerous improvements to baseline therapy for patients, including pancreatic enzyme replacement for nutrition. CF patients diagnosed decades ago would often die of malnutrition, Tolle said. Other improvements include better airway clearance techniques, medications that help break down the thickness of their mucus and the development of azithromycin, an oral antibiotic that can help reduce inflammation and the progression of the disease.<\/p>\n

\u201cBy the time children with CF reach adulthood they\u2019re much healthier than they used to be,\u201d Tolle said.<\/p>\n

The past decade also saw the introduction of modulators, oral medication designed to improve the function of the CFTR protein, the abnormal protein in CF that leads to thicker secretions and developing lung and pancreatic disease.<\/p>\n

\u201cMost likely in the future, the use of modulators is going to improve lifespan and decrease severity of the disease and, we would assume, the progression of the disease,\u201d Tolle said. \u201cSo, we don\u2019t really know the long-term effects would be on a child started on modulators today.\u201d<\/p>\n

Tolle cautions, however, that with an increased lifespan comes other health issues.<\/p>\n

He predicts there will be a larger group of CF patients with diabetes, and patients will continue to grapple with infertility \u2014 about 97 percent of men with CF have infertility due to the lack of development of the vas deferens. Women also have reduced fertility due to the thickness of the cervical mucus.<\/p>\n

Mental health will also continue to be a major issue, he said. CF patients have a higher prevalence of anxiety and depression than the general population.<\/p>\n

Preparing to transition patients to the adult program begins early. \u201cTransitioning from childhood to adulthood takes time \u2014 graduating from high school, going to college, getting a job, moving out of your parents\u2019 house \u2014 it doesn\u2019t happen in a day, and neither does transitioning from our pediatric to adult program. It\u2019s an area we\u2019re all focused on, looking at quality improvement and making sure the transition goes as smoothly as possible,\u201d Tolle said.<\/p>\n

Benchea considers herself a \u201cfull-time patient.\u201d She worked for nonprofits in program development until about eight years ago, then lost both of her parents to cancer. \u201cLife events caused my health to tank. I was sick more than I was healthy,\u201d she said.<\/p>\n

She no longer works full time but volunteers as a patient advocate for people with CF at both the local and national level and has helped develop programs for the National CF Foundation, including Breathe Con, a virtual program for adults with CF where they can be together online and away from germs.<\/p>\n

\u201cIt\u2019s an extremely isolating illness and an invisible disease because it\u2019s not always apparent that someone with CF is sick,\u201d Benchea said. \u201cAnd people are at such different phases. You can have a 20-year-old waiting for a transplant and a 40-year-old with a family and working. But we\u2019re all facing the same thing and we have a huge treatment burden.\u201d<\/p>\n

It\u2019s often difficult for CF patients to work, Tolle said. \u201cSome can\u2019t work in certain environments because of irritants to their lungs. Some can\u2019t hold certain jobs if they can\u2019t do their treatments at work. They have to see multiple doctors and that means time away from work.\u201d<\/p>\n

Benchea faces about four hours of lung therapy to break up mucus each day \u2014 two in the morning and two at night, with sometimes extra treatment in the afternoon. \u201cIt\u2019s so time consuming and so rigorous. Every day is a hurdle and you can still feel horrible and be sick. You don\u2019t get breaks. You can\u2019t skip a treatment, or you feel it, or you can do all the treatments and you may still feel horrible.\u201d<\/p>\n

 <\/p>\n

A new population<\/strong><\/p>\n

Melinda Wyrick, 37, represents another group of patients living longer lives \u2014 those with serious congenital heart diseases and malformations.<\/p>\n

Wyrick was born with aortic stenosis, the thickening and narrowing of the aortic valve. On Dec. 13, 2017, she delivered twins about four weeks early by cesarean section. Her obstetrician asked her if she wanted to know the gender of the babies before she was put under general anesthesia. Although it wasn\u2019t said, Wyrick knew it was in case she didn\u2019t survive the operation. \u201cYou have one of each,\u201d Jennifer Thompson, MD, assistant professor of Obstetrics and Gynecology, told her.<\/p>\n

\"\"<\/a>
Despite her congenital heart defect, Melinda Wyrick safely delivered twins Arabella, foreground, and Rhett. Photo by John Russell.<\/figcaption><\/figure>\n

A team of 27, ready to deliver Arabella Snow and Charleston \u201cRhett\u201d Wyrick, cheered. Many were on hand to carefully monitor and support their mother\u2019s heart during her C-section.<\/p>\n

\u201cFifty years ago, 25 percent of people with complicated heart disease survived. Now the number is 85 percent,\u201d said Ben Frischhertz, MD, assistant professor of Medicine and Pediatrics and director of Vanderbilt Heart and Vascular Institute\u2019s adult congenital heart disease program. \u201cBut there\u2019s a new population of people with manmade disease \u2014 disease resulting from having these interventions earlier in life. We have this new population of survivors who need ongoing care as they reach adulthood and beyond,\u201d he said.<\/p>\n

To keep up with the number of patients with disabilities and serious chronic illnesses who are reaching adulthood, there\u2019s a need to educate primary care physicians who will be caring for many of these patients, said Jeffrey Neul, MD, PhD, director of the Vanderbilt Kennedy Center, a national disability research, training and services center. \u201cIt\u2019s not practical to imagine that all the children\u2019s hospital specialists in the world will follow these people indefinitely. We need a larger workforce. And I don\u2019t think we will ever be able to train enough subspecialists to meet the ultimate need,\u201d he said.<\/p>\n

\u201cThe transition to adulthood for all childhood diseases is very challenging. The CF community has developed a great model of patients not living in the children\u2019s hospital forever. They go to an adult provider who understands CF. That\u2019s the model we\u2019d love to see for all chronically ill patients and those with disabilities. Ultimately, most of the care will need to be provided by the primary care physician, and we need to create systems and educational opportunities for adult care providers to give them information and knowledge about these diseases so they feel comfortable providing general medical care for them.\u201d<\/p>\n

 <\/p>\n

A one-time shot<\/strong><\/p>\n

Wyrick\u2019s aortic stenosis has been controlled with constant surveillance including cardiac catheterizations and ultrasounds, medication until she was 22, then a healthy diet, no caffeine and limited sugar. She had an arrhythmia that was finally eradicated with an ablation in 2016, after a failed attempt when she was a teenager.<\/p>\n

\u201cI was told at 15 not to conceive, that I wouldn\u2019t make it through a delivery, but I always wanted a family even if it meant adopting, and I never gave up hope that I\u2019d carry a pregnancy,\u201d said the Murfreesboro, Tennessee, resident. Years later, with the help of a fertility specialist, she got the OK from Frischhertz, her cardiologist, to try to conceive. Under the supervision of her obstetrician and the Maternal\/Fetal Medicine program in the Department of Obstetrics and Gynecology, she started taking the fertility drug Clomid.<\/p>\n

The Junior League Center for Advanced Maternal Fetal Care offers a collaborative clinic for women with serious chronic illnesses who are considering pregnancy, are pregnant, or are postpartum.<\/p>\n

Wyrick got pregnant within six months and the babies were checked to make sure they didn\u2019t inherit her heart condition. They had healthy hearts with no signs of disease. Wyrick wanted to deliver vaginally with no pain medication, but \u201cthey laughed me out of the office,\u201d she said. \u201cFinally, I got it that we couldn\u2019t push too hard and stress my valve, so my family and I talked, and we decided to err on the side of caution. The only bad thing is that since this had to be an intubated cesarean, and probably my only pregnancy, my husband would not be able to see his children born.\u201d<\/p>\n

Arabella and Rhett were delivered at 32 weeks gestation weighing 4 pounds, 12 ounces each, and Wyrick did well though the surgery. \u201cThe team did such a great job of keeping an eye on my heart,\u201d she said. \u201cYou could see it in all of their faces \u2014 nobody could believe I could do this without complications. Even to the smallest detail, this was a perfect delivery. Everybody knew this was probably a one-time shot and they helped make it symbolic and memorable.\u201d<\/p>\n

Frischhertz said there are now more adults with congenital heart defects than children worldwide. Physicians are just now seeing the first adults to survive hypoplastic left heart syndrome, for example, a serious defect in which the left side of the heart is underdeveloped.<\/p>\n

\u201cThese babies only started surviving in the 1980s and 90s and having adults with this heart disease is a completely new problem that many of us have never seen before,\u201d he said.<\/p>\n

As time goes on and new techniques and tools are developed, surgeons are going to be getting better at repairing hearts, leading to even more adult survivors of congenital heart defects, Frischhertz said.<\/p>\n

\u201cOur surgical techniques have improved since open heart surgery came along in the \u201950s. And everything has improved on the medical side. Our perfusion with heart bypass, anesthesia, ICU care and cardiology and imaging techniques are better than ever. All of this, but especially the surgical innovation, has contributed to better survivorship.\u201d<\/p>\n

Another aspect of cardiac care that is helping boost survival rates is transplant, Frischhertz said. Vanderbilt performs more heart transplants than any other program in the Southeast, with patient outcomes among the best in the nation.<\/p>\n

There are technical challenges of transplanting an adult who has had multiple operations and an abnormal anatomy, he said. \u201cEach transplant requires much planning and interdisciplinary collaboration. Our surgeons and cardiologists on the pediatric side are collaborating with those on the adult side to provide the best care for this group of patients.\u201d<\/p>\n

Adults with serious congenital heart defects often suffer from anxiety disorders. Young adults with serious chronic illnesses often carry the burden of their illness with them years later, struggling with physical and emotional problems as adults, less likely to achieve the same level of education or employment as their healthy counterparts, according to a research study from the University of North Carolina at Chapel Hill.<\/p>\n

\u201cChildren with chronic diseases worry about dying. Some struggle holding a job, or if they\u2019re in school, completing assignments. Taking care of themselves can be challenging,\u201d Frischhertz said.<\/p>\n

Adulthood is a time for developing independence from parents, and children growing up with a serious chronic disease can struggle to be independent, he said. \u201cWhen you\u2019re 18, you don\u2019t want to be taking medications, scheduling appointments, calling doctors. Just the things you need to do to stay healthy are hard to maintain when you\u2019re doing it for the first time on your own.\u201d<\/p>\n

 <\/p>\n

Social, sweet, stubborn<\/strong><\/p>\n

Linda Prader, of Paris, Tennessee, describes her daughter Ashley, 25, as a people person, very social and sweet.<\/p>\n

\u201cBut she\u2019s also a cute little redhead, so she can be stubborn,\u201d Prader affectionately says of Ashley, who has Down syndrome.<\/p>\n

\"\"<\/a>
Ashley Prader serves up sweet treats at a local bakery. Photo by John Russell.<\/figcaption><\/figure>\n

Half of all people with Down syndrome are born with heart defects, and Ashley was born with tetralogy of Fallot and had surgery at Vanderbilt Children\u2019s Hospital when she was 6 weeks old.<\/p>\n

The rare congenital heart condition is caused by a combination of four heart defects that are present at birth which affect the structure of the heart and cause oxygen-poor blood to flow out of the heart and to the rest of the body.<\/p>\n

\u201cWe were told early on that she might not ever roll over, walk or talk, and she was sent home with a feeding tube, but she walked, talked, did everything normally. She reads. She helps me with my cell phone. She\u2019s very high functioning. We\u2019ve been blessed.\u201d<\/p>\n

Ashley is artistic, making 3D images by combining stenciling with lines behind them to give a 3D look, and painting wooden birdhouses, cathedrals and other designs. She works one day a week at Sweet Jordan\u2019s, a local bakery whose owners have a child with Down syndrome. The owners hire adults with disabilities to help at the bakery and are opening a coffee shop next door that will share employees.<\/p>\n

Neul, the Vanderbilt Kennedy Center director, said most of the one in five children who have a developmental disability will become adults.<\/p>\n

Adults with Down syndrome are at a higher risk for developing Alzheimer\u2019s disease.<\/p>\n

\u201cWe have a pretty good sense of why,\u201d Neul said. \u201cOn chromosome 21, the chromosome there\u2019s an extra copy of in Down syndrome, there is also a gene (APP) that is a risk factor for Alzheimer\u2019s. Since people with Down syndrome have three copies of that chromosome, they\u2019re at an increased risk.\u201d<\/p>\n

Neul said children with Rett syndrome, his area of specialty, are also surviving longer into adulthood. A genetic disorder that primarily affects girls, individuals lose the ability to speak and use their hands and have difficulty walking. Changes to a more aggressive type of care for these patients, including better nutritional support, have led to longer life expectancies.<\/p>\n

And as they reach adulthood, they are often treated by health care professionals who are not as familiar with the disorder. \u201cWe\u2019re only beginning to learn about changes with aging in these disabilities and understanding more about what we should worry about, what we should consider and look for,\u201d Neul said.<\/p>\n

Adults with Rett syndrome can develop Parkinson\u2019s-type features and changes in motor function and their ability to walk and initiate movement.<\/p>\n

The Vanderbilt Kennedy Center is working to create systems and educational opportunities both for adult caregivers and for providers of adult health care to gain information about intellectual or other developmental disabilities so that they can feel comfortable caring for the increasing numbers of patients who will be seen in their practices.<\/p>\n

One system, the IDD Toolkit for primary health care providers, helps educate the workforce about health disparity faced by persons with intellectual and other developmental disabilities.<\/p>\n

Parents of children with a significant intellectual or developmental disability always have one eye on the future.<\/p>\n

\u201cIt\u2019s important to recognize that your children with disabilities could outlive you and to think about who and how additional support will be provided when you\u2019re no longer there. We encourage parents to discuss guardianship early. It\u2019s a complicated discussion because it\u2019s not always simple. You should be thinking about this before the teen years,\u201d Neul said.<\/p>\n

Ashley Prader\u2019s father died five years ago and Prader, 57, has determined that Ashley\u2019s aunt in Illinois will be her guardian upon Linda\u2019s death.<\/p>\n

Ashley worries about something happening to her mother, Linda said. \u201cI told her not to worry; I have it worked out.\u201d<\/p>\n

 <\/p>\n

Loving life<\/strong><\/p>\n

Benchea, who has been taking part in Vanderbilt clinical CF trials since she was 15, is currently enrolled in another trial that keeps her traveling back and forth for the expert care she needs. But she doesn\u2019t mind the driving.<\/p>\n

\u201cI have a full life and lots of friends and family, and I\u2019m pretty independent. It hasn\u2019t been in my cards (to get married). If somebody comes into my life, I\u2019ll be ready, but it takes a special person to be in a relationship with someone with a chronic disease.\u201d<\/p>\n

Despite the ups and downs of her disease, she considers herself fortunate.<\/p>\n

\u201cI love my life. I\u2019m lucky for someone at 42. I\u2019m such an old lady with CF,\u201d she laughs. \u201cI\u2019m not on a transplant list. I\u2019m not on oxygen. I don\u2019t have the stress of a job because I\u2019m not working. If I lose sleep, I can recover the next day,\u201d she said.<\/p>\n

Benchea said she is cautiously excited about the future and some of the treatments on the horizon. \u201cI feel fortunate that research and science have kept me alive, and as new breakthroughs in science keep happening, I am hopeful that I will lead a full and independent life despite having CF.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

Before the 1950s, it was rare for a baby born with cystic fibrosis (CF) to survive to more than 5 or 6 years of age. In 1962 the median survival was about 10 years with few surviving into their teen years, according to the National Institutes of Health. During the 1980s, the average lifespan increased…<\/p>\n","protected":false},"author":216,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"_links_to":"","_links_to_target":""},"categories":[14,15,33],"tags":[],"class_list":["post-1944","post","type-post","status-publish","format-standard","hentry","category-vm-features","category-vm-homepage-highlights","category-winter-2019"],"acf":[],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/pcDnub-vm","_links":{"self":[{"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/posts\/1944","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/users\/216"}],"replies":[{"embeddable":true,"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/comments?post=1944"}],"version-history":[{"count":1,"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/posts\/1944\/revisions"}],"predecessor-version":[{"id":2965,"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/posts\/1944\/revisions\/2965"}],"wp:attachment":[{"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/media?parent=1944"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/categories?post=1944"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medschool.vanderbilt.edu\/vanderbilt-medicine\/wp-json\/wp\/v2\/tags?post=1944"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}