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Children's, News

How Genetics Is Helping Patients with Rare Diseases

Recent advances in genetics research are providing doctors with promising avenues for diagnosing and treating genetically based illnesses. “As genetic testing has become more and more advanced, we can really focus on smaller pieces of DNA, and even read individual letters of DNA, to look for answers to health conditions,” states Anna Hurst, Pediatrician and Assistant Professor of Medical Genetics at the University of Alabama–Birmingham.

The “Diagnostic Odyssey”

Although geneticists can be critical contributors to diagnosis, they are rarely the first health professionals patients visit when searching for answers to medical conditions.  “Usually another doctor, whether that’s a primary care physician or a subspecialist, has noticed there is something different about that individual’s health or development that might make a genetic condition more likely,” explains Dr. Hurst.

When the patient meets with a geneticist, tests are done to try to diagnose the condition. By “putting a name to it,” patients and their families can not only find guidance toward possible treatment, but also feel empowered to seek advice and comfort from national foundations and other support groups.

“I tell my families that those parent organizations can be so important, because other parents know things they don’t teach us in medical school. I always tell my families, if you hear anything in those support groups you think might help your child’s journey, let us know,” advises Dr. Hurst.

Recent Medical Advances

Great strides have been made in recent years to pinpoint location of genetic disorders, thereby leading to greater success in diagnosis and treatment. Among the most important advances has been exome and genome sequencing.

“Ten or 15 years ago, we would look gene by gene and read maybe a few genes at a time. But now, with exome and genome sequencing, we can simultaneously look at almost every gene in the body at once, to be able to take a more comprehensive approach,” says Dr. Hurst. 

There are approximately 6,000 rare diseases, with perhaps 70% of genetic origin. And, with estimates of as many as one in ten people having a rare disease (defined as an illness affecting fewer than 200,000 people), genetic research provides potentially enormous benefits for diagnosing and treating illness. 

Pilot Project and Public Information

Among the most important elements of advancing genetic diagnosis of illness are facilitating patient participation in, and promoting understanding of, the testing process. Because some types of genetic testing may not be covered by insurance, the cost can be prohibitive.

“Children’s Hospital of Birmingham has committed funding for at least 200 children to have whole genome sequencing. To date, we have enrolled about 75, and of those patients, we have a diagnosis of about 30%,” notes Dr. Hurst.

Unlike patient administered home testing, which can be helpful but often does not provide full genetic sequencing, professional medical testing combines completeness in testing with follow-up consultation. “The genome testing really makes things more personalized, and truly individualizes health care plans,” adds Dr. Hurst. 

Public information efforts are another important element of advancing genetic diagnosis and treatment. Among the programs designed to promote public awareness are Rare Disease Day, an international event held on the last day of February, and the Rare Disease Genetics Symposium, an annual two-day seminar hosted by the UAB Department of Genetics, Children’s of Alabama and Alabama Rare, an advocacy group.

“The first day of the symposium has a physician-scientist focus, and on the second, we have a parent and caregiver focus. The theme this year was using technology and collaboration to navigate the rare disease journey,” shares Dr. Hurst. Further information can be found on the National Institutes of Health website (GHR.NLM.NIH.gov), rarediseaseday.org, and Alabamarare.org.

Offering Hope and Direction

Genetic research and testing will continue to be powerful tools to combat illness, and with further medical advances will come greater empowerment for families seeking answers.

As Dr. Hurst says, “We try to help the family where they are in their journey, and how that information is affecting them. Oftentimes, when they are able to see the benefit, it becomes a very empowering experience. They might feel validated that they have an answer, and then go forward with planning medical care tailored to their specific needs.”   

**To listen to an interview on this topic with Anna Hurst, Pediatrician and Assistant Professor of Medical Genetics at the University of Alabama—Birmingham, follow this link: https://radiomd.com/childrensalabama/item/41786

Children's, Health and Safety, News

Preventing Injury

SD-InjuryPrevention-1Although cases of children and infants sick with COVID-19 are not showing up in the numbers seen in adults, they are affected in other ways. Amid quarantines and school closings, some parents are forced to watch their children and work from home while others deal with the frustration of providing for their families without a steady income. This leaves children in a vulnerable position and at increased risk of injury – the No. 1 killer and cause of hospitalization among youth.

Doctors working with the Injury Free Coalition for Kids of Birmingham are on the frontlines treating injuries resulting from ATV accidents to dog bites. Children’s of Alabama Emergency Department Medical Director and University of Alabama at Birmingham (UAB) Professor Kathy Monroe, M.D., and Children’s Pediatric Emergency Medicine Physician and UAB Professor Michele Nichols, M.D., are doing all they can to raise awareness and address a likely increase in childhood injuries amid the COVID-19 pandemic. Injury prevention professionals emphasize the safety and well-being of children so that they remain injury-free.

“We must remain mindful and vigilant,” said Barbara Barlow, M.D., founder and executive director of the Injury Free Coalition for Kids. “Our sites across the country are working to find ways to help families address motor vehicle safety, home safety and the need for safe play spaces during the virus outbreak.”

“The Centers for Disease Control and Prevention (CDC) is encouraging families to help children to stay active and play outdoors, go on bike rides, and walks, but obviously while practicing social distancing,” said Injury Free Board President Lois Lee, M.D. “The CDC also says it’s important to take regular indoor activity breaks to stretch and dance as well as keep children socially connected by helping them reach out to friends and family via phone, video chats, and writing letters or cards when it is not possible to visit due to stay at home orders.”

For more information about how to keep kids safe and engaged, visit childrensal.org/coronavirus and click on the “COVID-19 KidsHealth and Resources” tab.

In addition to keeping children injury-free, the CDC offers the following tips to help families stay healthy and virus-free:

• Cleaning hands often using soap and water or alcohol-based hand sanitizer
• Avoid people who are sick (coughing and sneezing)
• Clean and disinfect high-touch surfaces daily in household common areas (e.g. tables, hard-backed chairs, doorknobs, light switches, remotes, handles, desks, toilets, sinks)
• Launder items including washable plush toys as appropriate in accordance with the manufacturer’s instructions. If possible, launder items using the warmest appropriate water setting for the items and dry items completely. Dirty laundry from an ill person can be washed with other people’s items.

Cold-like symptoms such as fever, runny nose, cough, shortness of breath, vomiting and diarrhea have been associated with COVID-19 in children and are reasons for contacting primary care providers.

About Injury Free Coalition for Kids
The Injury Free Coalition for Kids is among the country’s most effective injury prevention programs. It is a national program developed with funding from the Robert Wood Johnson Foundation comprised of hospital-based, community-oriented programs whose efforts are anchored in research, education and advocacy. Currently, the Coalition includes more than 30 sites located in just as many cities, each housed in the trauma center of their participating institution. It is run under the guidance of a board comprised of Coalition members and approved by the organization, operated by a set of bylaws established by the governing board.

Children's, News

Perspectives of COVID-19 from a Pediatric Psychologist

By Dan Marullo, Ph.D.

With COVID-19 being declared a pandemic, we are now tasked to change our personal and collective behavior. It is understandable that many will experience fear, anxiety and anger in the coming days and weeks. This is normal and certainly a typical reaction to a crisis. However, whether we respond with grace or with terror is in our individual and collective control.

It is normal to be afraid. It is OK to acknowledge that fear and to take steps to cope with anxiety. Please consider the following:

  1. Fear of the unknown is normal. We are each subject to feeling a host of emotions such as anxiety, worry, irritability and sadness. We can also experience poor sleep or appetite, trouble with concentration, a tendency to withdraw from other people and perhaps even feeling hopeless. These can be normal reactions to the situation and it helps to recognize this in ourselves and in others. For example, recognizing that your spouse or child is uncharacteristically moody or snappish may mean that they are feeling overwhelmed and need support. Certainly, anyone feeling suicidal may need immediate attention.
  • Seek reliable information. There is much that we still do not know about COVID-19 and that alone increases fear and anxiety. Gaining reliable information is key to addressing this uncertainty. Reputable websites for updates and information include the Centers for Disease Control and Prevention, the National Institutes of Health and the World Health Organization. Websites for good psychological information related to COVID-19 include the American Psychological Association and the American Psychiatric Association.
  • Practice self-care. Because we are all susceptible to emotional distress, it becomes more important to take care of ourselves physically and emotionally. This may be complicated by social distancing given that social activities are commonly used by people to cope. We may not be able to attend religious services, go to work or school, the gym, shopping and so on. However, we can adapt and remain connected. Many churches are hosting online services, you can exercise at home using YouTube classes, and so on. A few things to keep in mind:
    • Maintain a typical routine as much as possible. Try having your kids do schoolwork at home at the times they would at school. Do the same if you are working from home.
    • Take a media/social media break. Depending on what you read or watch, COVID-19 is either the world’s biggest hoax or the end of the world. Neither is true. Seek accurate information and take a break from all the chatter.
    • Social distance does not mean social isolation. We may not be able to go out, have play dates or travel, but we can maintain contact with family and friends via Facetime and other platforms. This is especially critical for our most vulnerable family and friends, those that must be on isolation because of health concerns such as the elderly and those with underlying medical conditions.
    • Consider volunteering in some way. The simple act of giving has been shown to reduce distress in the giver. It is gratifying to see people organizing food drives and other activities to support their communities.
    • Find ways to maintain your spirits. A good sense of humor goes a long way. Our Italian brothers and sisters are singing from their balconies in defiance of their isolation. People are amazing. Find your path.
  • Be a role model. Our children are watching how we react to this crisis. What do you want them to see? Children and teens rely on the adults in their lives to model and teach behavior. A child’s coping often relies on how adults cope. Now is the time to teach resilience, compassion, self-sacrifice and healthy coping. These are lessons children will remember for the rest of their lives. We adults should manage our emotions and fears, and be the leaders our children need us to be.
  • Support our children. Our children are responding to this crisis as well and need support during this time. How children cope and what they need varies by their age and level of development. For example, small children respond to the distress around them and need comforting and security. School aged children, tweens and teens need information that is tailored to their age (Younger children need the basic facts, older kids can deal with more detail and abstraction). Recognize that a change in behavior may be a sign of distress and an opportunity to engage and support. Please consider:
    • Maintaining a typical routine as much as possible. This includes schoolwork, bedtimes and mealtimes.
    • Giving age-appropriate information and answering questions honestly.
    • Monitoring use of TV and other media, particularly if your child is constantly looking at COVID-19-related content (Remember, bad information is scary).
    • Providing opportunities for kids to give and contribute. Help them organize a food drive or a video chat with nursing home patients. This promotes a sense of engagement and teaches resilience.
    • Managing your own emotions. Remember, our kids are watching. What do you want them to learn?
  • Acknowledge and recognize grief. Many of us are experiencing loss and uncertainty and it is OK to acknowledge that fact. As this process unfolds, we may lose people we love, jobs that we depend on, perhaps even that sense of safety that we once enjoyed. Coming to terms with loss is necessary and healthy. Now is the time for each of us to reach out as individuals and as a community to support one another, in small ways and in large.
  • Look for the lesson. I, like many of you, have experienced tragedy in my life. From that experience I have learned valuable lessons. I have learned much about myself and what I value and treasure. I do not know what lessons each of us may learn from this pandemic, but I do know there is something of value to learn if we leave ourselves open.

As I conclude this message, I feel a tremendous sense of community and hope. In some perverse way, this event has given all of us a “time out.” Perhaps this is our time to reflect, reconnect with others and remember what is truly of value in this life. I wish you all well.

Dan Marullo, Ph.D., is a pediatric psychologist and neuropsychologist at Children’s of Alabama and the University of Alabama at Birmingham.

Children's, News

Oncology School Liaison Helps Patients Return to School with Ease

School is one of the most important parts of a child’s life. Continuing to keep up academically and stay connected with classmates is important for all children diagnosed with cancer or a blood disorder. Sometimes it is difficult and scary to return to school after their diagnosis and treatment or after a long hospital stay. The struggle may not always be due to medical reasons, but often the fear of classmates teasing them because of a change in appearance, worrying about keeping up with school work, or maybe feeling isolated from their peers.

The Alabama Center for Childhood Cancer and Blood Disorders, is a partnership between Children’s of Alabama, the UAB Division of Pediatric Hematology and Oncology, the UAB Comprehensive Cancer Center, the UAB Institute for Cancer Outcomes and Survivorship, along with childhood cancer research entities, such as the National Cancer Institute and Children’s Oncology Group. The Hope and Cope Psychosocial and Education Program uses a family-centered approach to provide support and services for emotional health and well-being.

The STAR (School/Social Transition and Reentry) initiative is a service of the Hope and Cope Psychosocial and Education Program that provides patients with an education/school liaison who maintains ongoing communication between the medical team, the child’s school and their family. This helps the student return to a more normal lifestyle and to feel comfortable going back to school.

 

“We help facilitate the patient’s reentry to school when the oncologist medically releases them to return,” said Education/School Liaison Caroline Davis, MS, CSP. “Our goal in a reentry class presentation is to help the child’s classmates better understand the child’s diagnosis and cancer treatment journey, and to inform the teachers about any special accommodations the student may need in the classroom, or unique learning challenges the student may have.”

 

There are a variety of specialized services that the education/school liaison offers to the child and their family throughout their treatment and into survivorship. Here is a look at how the liaison can help.

  • Aid the familyin understanding their child’s learning needs; to understand federal and state law, and how to advocate and effectively communicate with their child’s school system.
  • Assist the parents in obtaining special education servicesor program modifications when needed, including collaborating on Individualized Education Planning (IEP) meetings.
  • Accompany the parents to school meetings in person or participate through Skype (i.e., a software application that enables users to have video-conferences over the internet).
  • Present workshopsto educate the school system about unique learning patterns of childhood cancer survivors and evidenced based recommendations.
  • Help young people stay in touchwith classmates through use of webcams until they are ready to return to school.
  • Prepare young people, parents, and teachersfor the return to school after a long absence and empower the child to better advocate for themselves.
  • Give classroom presentationsto help classmates understand and support the young person living with a serious illness.
  • Teach problem-solving skills and role playingto help the young person or family members with school adjustments.

 

Davis states, “When we go to the classroom, the child is often overwhelmed and scared about returning to school, but after we show their personalized presentation about their journey to the other students, you can see the child begin to interact with peers and be involved in the discussion. It is extremely rewarding to see such a change in their confidence and self-esteem!”

 

For information about this exceptional benefit and/or our STAR program, please contact Caroline Davis at (205) 638-5421 or csdavis@peds.uab.edu.

 

Children's, News

Multidisciplinary liver clinics coming to Children’s of Alabama

By Dr. Reed Dimmitt, Director, Division of Pediatric Gastroenterology
David E. Dixon Endowed Chair in Pediatric Gastroenterology

With the addition of two more physicians in the coming months, Children’s of Alabama will soon be able to expand the care we provide to pediatric patients with liver disease.

Gillian Noel, M.D., is finishing her fellowship at Emory and will join us soon. Within a few months, we will welcome Mike Leonis, M.D., from Cincinnati, Ohio, as the director of our new pediatric liver center. Both are board certified in pediatric hepatology and will be the first two such certified physicians in the state.

These staff additions are the realization of a longtime goal to establish a liver center benefitting children across Alabama. We will be able to increase the number of liver transplants performed on children around the state, allowing physicians to refer more patients to Children’s instead of Vanderbilt and Emory. We will also expand specialized clinics for other conditions such as liver disease associated with cystic fibrosis, pediatric fatty liver disease and metabolic diseases.

These clinics will be multidisciplinary, including nutrition, genetics, pulmonary, psychology and child life. When patients come in from around the state, they will be able to see everyone at one time without making multiple appointments. Even local patients will find the process to be more efficient, requiring less time off school and work to get the care they need.

In addition to helping simplify the process for patients and their parents, these multidisciplinary clinics have proven to improve outcomes. The collaborative nature of the clinics will enable us to discuss cases from our own specialty while developing a transdisciplinary approach to the care of patients. We are able to care for the total patient, not only addressing their physical needs but also how their condition affects them emotionally and developmentally in a programmatic manner.

In conjunction with the liver clinics, we are planning an expanded pediatric obesity program so we can have interventions with these children as well.  The clinics will partner as needed to provide the full scope of care for all our patients.

With the addition of these doctors Leonis and Noel, we’ll have three physicians dedicated to liver disease and 13 faculty members in our group. We are pleased to welcome them in our efforts to continually improve care through the Division of Pediatric Gastroenterology at Children’s.

Children's, News

Advances in genetic testing result in more effective diagnoses

By Bruce Korf, M.D., Ph.D.
UAB Professor and Chair, Department of Genetics

Dr. Bruce Korf

Dr. Bruce Korf

Birmingham pediatricians now have expanded options for easily accessing genetic expertise and testing, with the recent opening of a genetics clinic at Children’s of Alabama.

For physicians, it’s important to consider when to refer a patient for genetic evaluation, especially for those patients who were unsuccessfully evaluated in the past.

Most pediatricians have experience in recognizing children with congenital malformations, intellectual disability or developmental delay that may have a genetic component. When those patients receive a diagnosis, parents have at least a minimum understanding of what is happening with their child, how best to manage that child, and whether it may occur in their other children.

Unfortunately, in the past a large percentage of patients went undiagnosed, even with an evaluation, putting the parents of young children on a seemingly endless quest to decide how best to manage their child’s medical conditions.

A great deal has changed relatively recently, however, and new tools, including microarray and genome sequencing, are available, which means we have the ability to achieve diagnoses that were not available to us before. So if you have been following a patient with medical issues that you suspect are genetic in origin, and that patient has not had genomic sequencing, it is likely time to refer them to a clinic for retesting.

One of the new tools available to us is microarray testing, which gives us the ability to make a definitive diagnosis at much higher rates than we could expect just a few years ago. Older tools would enable us to see the big picture, much like a satellite picture of the earth. Today’s tools are more like the Google Earth app, allowing us to zoom down to street level, so we can see detail on the genome that was previously impossible.

Genome sequencing is another tool that has improved our ability to diagnose. The cost for the test is dropping dramatically. Once costing $100 million per run, the test and analysis are now in the $6,000 to $7,000 range. While that is still a lot of money, compared to the cost of other medical tests it is actually fairly reasonable.

Microarray can be expected to pick up the genetic cause of 15 to 20 percent of autism spectrum disorder cases. Genome sequencing can pinpoint a diagnosis in about 30 percent of cases of children with intellectual disability, autism spectrum disorder, or congenital anomalies. Putting the two tests together means we can expect a definitive diagnosis in 50 percent of the cases presented to us. Considering that even five years ago we could only expect to diagnose about 5 percent, that’s a tremendous step forward in a very short time.

At one time, a genetic diagnosis relied on the physician’s ability to predetermine the underlying problem in order to test for that particular disorder. Today, we are able to diagnose based on the tests, even finding conditions so rare that no physician would have considered testing for them in the past.

And when a diagnosis still eludes us initially, we can now share results and experience with other geneticists around the world, enabling us to establish a diagnosis we may not have been able to make alone.

In short, the tools we have at our disposal now have never been more powerful, so if you are a pediatrician following a patient and have been unsuccessful getting a diagnosis in the past, it is worth taking a second look now.

Of course, putting a name to a disorder is only part of the battle. The next step is knowing how to treat a patient’s condition, and we have made progress in that area as well. Certainly, we can’t say we are able to treat every condition we see, but once we figure out which gene underlies the condition, we then begin to ask why the change in the gene causes the problems it does. And we are gradually figuring that out and identifying drugs that improve quality of life.

With such dramatic and rapid developments in the field of genetics, there are many implications to be considered as we move forward. There is increasing discussion that perhaps everyone should have their genome sequenced, as the cost goes down and the feasibility of the testing goes up. This emerging area will have to be addressed carefully. Between 1 to 3 percent of people whose genes are sequenced will discover a condition they did not realize they had or were at risk for, and virtually everyone can learn how their body manages specific medications or can become aware of risk factors for common diseases. But there are also questions about what options exist to manage these risks once they are known. We will have to proceed carefully in light of our increasing technological abilities.

For patients with known medical problems that can be addressed with genetic evaluation, however, there are ample reasons to make referrals and try to determine a diagnosis that can improve quality of life for the patient and their family.

We have a new clinic integrated into Children’s, with access to parking and other specialists, making genetic evaluation more convenient for parents than ever before. In addition to our Children’s clinic, we have a prenatal diagnosis program through ob/gyn and maternal fetal medicine at UAB, and our newest clinic at Kirklin Clinic for adults.

If you have questions about referring a patient to one of our Birmingham area clinics, please call (205) 934-4983 to discuss.

 

Children's, Health and Safety, News

Talking to Children about Current Events

In this day and age, children are exposed to violent and disturbing topics on the news. Reports on natural disasters, shootings and terrorist attacks can be confusing to a child, teaching them to view the world as a scary place. But there are benefits in raising children who are aware of what’s going on in the world.

Dr. Dan Marullo is a Pediatric Psychologist at Children’s of Alabama. He says whether parents should share current events with their child depends on the age and developmental level of the child.

“It definitely depends on the age of the child,”Dr. Marullo says.”Kids of different ages have different needs and different developmental levels. I think regardless of the age of the child, one thing to keep in mind is children learn how to cope with adversity by watching their parents.”

Dr. Marullo says the first thing for any parent to do is to check how they’re coping with the news or what’s going on around them. Parents should keep things in perspective and help children to understand that television has a way of shrinking the world and bringing it into our living rooms. A child watching a news story about an earthquake in California may lose sleep thinking the same thing could happen in Alabama.

Dr. Marullo says younger children, toddlers and preschoolers probably don’t need to see a lot of the bad things on television. “They would have a very hard time managing that so minimizing exposure would be important,”he says.

For school age children, the approach should be different. “For older children, they’re probably going to come across media on their own,”Dr. Marullo says. “It’s important for parents to have a dialogue with their child. Watch the media with them, watch the news with them. It certainly makes a great topic of conversation for dinner time. That way parents can monitor their child’s exposure but also answer their questions and model their own behavior.”

For parents of school age children, keep in mind a little exposure to adversity is beneficial. “The way we learn to deal with adversity is by experiencing adversity,”Dr. Marullo says. “That doesn’t mean we expose our children to everything, but a little exposure with good guidance from a parent is crucial for their healthy development.”

Parents may also want to talk to their child about what can be done to help in a tragic event. Children may gain a sense of control and feel more secure when they think of ways they can help those affected by the tragedy.

If a child seems overly anxious, parents should encourage a break from television. Read, play board games or go outside. Look for opportunities to bond as a family and put things in perspective.

Allergies, News

Potentially Life-Changing Changes Afoot for Children with Food Allergies

Prescott AtkinsonDr. Prescott Atkinson is Director of Pediatric Allergy and Immunology at Children’s of Alabama and a Professor of Pediatrics at UAB. He is board certified in pediatrics, as well as allergy and immunology. He received his MD/PhD from Emory University in 1987, completed his pediatric residency at Georgetown University and completed a fellowship in allergy and immunology in 1992 at the National Institutes of Health. He joined the UAB faculty in 1992.

New medical research is ushering in big changes in how doctors think about food allergies and the way they will be treated in the near future.

The turning point came last year with the LEAP (Learning Early About Peanut) Study published in the New England Journal of Medicine. This five-year study showed that avoidance of food allergens by children at risk for food allergy is often the wrong strategy, which, of course, is contrary to something doctors had been advising for decades.

Data in the study were so powerful that doctors have already changed the advice they are giving to parents with children pre-disposed to food allergies. Meanwhile, the American Academy of Allergy and Immunology together with the American College of Allergy and Immunology are working with the National Institutes of Health to firm up a position paper to formalize these new recommendations.

Researchers with the Immune Tolerance Network conducted the LEAP Study by enrolling hundreds of infants from 4 to 11 months old who were predisposed toward peanut allergy. Children in the study were not yet sensitized to peanuts, but they had the family history plus a strong sign of developing food allergies—severe eczema. It is likely that eczema is associated with food allergies because breaks in the skin allow allergens to sensitize children.

Children in the study were divided into two groups. One group was fed peanuts daily, and the other group strictly avoided peanuts. After five years, researchers looked at which children had become allergic to peanuts and which had not. Only about 2 percent in the group that was exposed repeatedly to peanuts developed a peanut allergy. By contrast, nearly 14 percent of the children in the peanut avoidance group developed allergies. We seldom see differences like that in human studies. It was striking and statistically significant.

So there’s a new recommendation for infants at risk for food allergies. We can do testing, of course, and if they are not already allergic and are able to tolerate the food allergen, we are recommending that they should be fed the food frequently. That is the opposite of the previous recommendation, which warned parents to avoid exposing children to potentially allergenic foods for as long as possible.

For children who have already developed food allergies, some hopeful trials are underway that may offer protocols for desensitization. This approach would be similar to how allergists desensitize people who are allergic to pollen. Pollen desensitization is usually done with injections, but that’s dangerous for people with food allergies. With food allergies, the desensitization would be attempted with a graded, oral protocol. These are being developed for egg, nut and peanut allergens.

Patients would be challenged in clinic to see how much of an allergen they can tolerate. Then, a patient will consume that amount daily, possibly increasing that amount according to how they fared in subsequent challenges. Researchers have found that food tolerance gradually increases in most patients. In about a third of cases, patients can become completely desensitized, even those who had severe allergic reactions. A majority of patients are desensitized to the point that they can tolerate a small amount of allergens safely. That substantially lowers risks for severe, life-threatening allergic reactions.

Obviously, there is great interest in these protocols since about 5 percent of children have food allergies. We expect to have the new protocols available in general clinical use in the not-too-distant future.

This changing paradigm about food allergies is making doctors take a second look at why food allergies have been increasing. Most likely doctors have been contributing to this pattern by giving new mothers the wrong advice. Until the LEAP Study, we just didn’t have the data to make a good scientific recommendation, so we depended upon logic and common sense. We turned out to be wrong.

I strongly suspect that the incidence of food allergies in children will begin to subside after new recommendations take effect.

It’s also worth mentioning that there are some new biologic drugs in the pipeline that are promising for children with severe allergic asthma. We’ve been using one of these injection drugs, Xolair (omalizumab), for about a decade. Now, new ones will be available soon and some are effective at controlling severe asthma and even severe hives.

These new drugs will be expensive, but for people who are often hospitalized with severe asthma, they may be cost-effective and could certainly improve their quality of life.

Children's, Health and Safety, News

Children’s of Alabama Pediatric Spondyloarthritis Clinic

Matthew StollMatthew Stoll, M.D., Ph.D., MSCS, treats pediatric rheumatology patients at Children’s of Alabama. Dr. Stoll is also an associate professor in the University of Alabama at Birmingham Department of Pediatrics, Division of Pediatric Rheumatology.

The Division of Pediatric Rheumatology at the University of Alabama at Birmingham (UAB) and Children’s of Alabama was created in 2007 in response to a great need for pediatric rheumatic care in the state of Alabama, the largest state population without a pediatric rheumatologist at the time. A partnership between UAB, Children’s, the local chapter of the Arthritis Foundation and the greater Birmingham community helped to establish new clinic space, the creation of an endowed chair in Pediatric Rheumatology and ongoing support for the growth of the division.

The Pediatric Spondyloarthritis Clinic at Children’s of Alabama is devoted to the clinical care and research of children diagnosed with juvenile spondyloarthritis. The clinic was established in March 2014. Today, more than 150 children are being treated for spondyloarthritis at Children’s.

According the Arthritis Foundation, nearly 300,000 children — from infants to teenagers — in the United States have some form of arthritis. Juvenile idiopathic arthritis (JIA) is the most common type of arthritis in children, in which the immune system mistakenly attacks the body’s tissues, causing inflammation in joints and potentially other areas of the body.

Spondyloarthritis is one of six types of JIA. It involves inflammation and tenderness in areas where the ligaments and tendons attach to the bones, accompanied by pain and swelling in the joints. In some cases, spondyloarthritis primarily affects the spine. Some forms can affect the peripheral joints, primarily — but not exclusively — those in the legs. Typical symptoms are low back pain and stiffness, joint swelling and pain in areas such as the Achilles tendon.

In addition, some patients with spondlyoarthritis may experience inflammation in parts of the body other than the joints. My research has focused specifically on the links between inflammation in the gut and in the joints of children and adults with spondlyoarthritis.

Children who are referred to the weekly Pediatric Spondyloarthritis Clinic benefit from the continuity of care from a team of doctors with targeted clinical expertise in this area. While there are few effective therapeutic options in the management of spondlyoarthritis, current treatment regimens include conventional therapeutic drugs, as well as newer biologic therapies.

While the exact cause of juvenile idiopathic arthritis, including spondlyoarthritis, remains unknown, clinic patients can participate in our ongoing research that will help advance understanding of pediatric spondyloarthritis.

The Pediatric Spondyloarthritis Clinic also provides screening and treatment specifically for temporomandibular joint arthritis (TMJ), a joint frequently ignored in children with JIA as a whole.

Children's, News

Children’s of Alabama Expands Child Maltreatment Services

Dr. Michael A. Taylor is director of the newly created Division of Child Abuse Pediatrics at Children’s of Alabama and professor of Pediatrics at the University of Alabama at Birmingham (UAB). He is board certified in general pediatrics and child abuse pediatrics. He has extensive experience in providing medical services and support to abused and neglected children.

Michael Taylor

Michael Taylor

Child maltreatment is a significant public health problem in Alabama, as it is in all states. The most recent statistics available show there were nearly 20,000 reports of child abuse or neglect during 2013 in Alabama, with about 9,000 children confirmed as victims. And that is just the tip of the iceberg, with cases often going unreported and under-reported. Studies indicate that about 1-in-8 children nationally are victims of serious abuse or neglect by the time they reach their 18th year.

Children’s of Alabama is responding to this widespread problem with the creation of a new Child Abuse Pediatrics Division. It will expand the current services provided by the Children’s Hospital Intervention and Prevention Services (CHIPS) Center.

Child maltreatment encompasses a wide variety of conditions, including physical abuse, sexual abuse, caregiver fabricated illness (previously referred to as Munchausen syndrome by proxy), neglect and psychological/emotional abuse. Thus, child abuse pediatricians must work within medical, child welfare, law enforcement and judicial systems. We are often called to testify in court.

The CHIPS Center has provided forensic medical evaluations, psychosocial assessments, play therapy, counseling, case management services, prevention education, court support and expert court testimony in cases of suspected child abuse. Drs. Melisa Peters and David Bernard have provided medical care to maltreated children at Children’s for many years through the CHIPS Center and the Emergency Department (ED); however their availability to provide care has been stretched between these two services.

The UAB Department of Pediatrics and Children’s created the new Division of Child Abuse Pediatrics along with a full-time director, a position I am honored to hold. This division will provide oversight for existing child maltreatment services being offered through Children’s and UAB. This includes The CHIPS Center, the pediatric sexual assault nurse examiner (P-SANE) program, which operates out of the ED, and other physical abuse and neglect services. Drs. Bernard and Peters have invaluable experience serving maltreated children and are both board certified in general pediatrics, child abuse pediatrics and pediatric emergency medicine. They will continue to play key roles with Dr. Bernard as the medical director for the SANE program and Dr. Peters as the medical director for The CHIPS Center.

These actions are moving Children’s to the advanced tier of services for child maltreatment. Over the next five years we will move to develop at Children’s a “Center of Excellence,” the top tier as defined by the Children’s Hospital Association (CHA). This expansion will involve an extended regional presence, larger child protection teams, an accredited fellowship, research initiatives and increased family intervention and prevention services.

I have a special affection for Children’s, having served my pediatric residency here and serving as a long-time pediatrician at the University Medical Center in Tuscaloosa. And I am passionate about providing medical services to our most vulnerable children.

Children’s has a Level 1 Trauma Center, a Burn Center, a large Emergency Department, a nationally known neonatal intensive care unit, pediatric cardiovascular services, the Alabama Center for Childhood Cancer and Blood Disorders and many other top organizations within top organizations. Children’s is now becoming a leader in the recognition, management and prevention of child maltreatment.