Glycogen Storage Disease: Cleveland Clinic Children’s Launches One of Nation’s Only Dedicated Programs
Until the early 1970s, the most serious form of hepatic glycogen storage disease (GSD) was almost always fatal, marked by extreme failure to thrive, life-threatening hypoglycemia and acidosis. Then the first effective therapy was identified: cornstarch.
The discovery greatly improved the prognosis for children with the inherited metabolic disorder — and therapy has continued to make great strides since, says Laurie Tsilianidis, MD, pediatric endocrinologist and director of a multidisciplinary GSD Program launched by Cleveland Clinic Children’s in December 2012. The program is one of only three in the country focused on GSD.
“For $1 a day, we can treat a disease that used to be fatal,” Dr. Tsilianidis says, referring to the discovery that cornstarch taken by mouth is digested slowly, which helps keep blood sugar levels normal for specific periods of time. “We’ve come a long way in learning how to dose cornstarch very precisely. Today, not only can we keep patients alive — we can help them live normally.”
The Center for Pediatric Endocrinology’s new GSD Program offers patients coordinated care that is led by Dr. Tsilianidis and supported by a multidisciplinary team of pediatric specialists in neurology, gastroenterology, critical care and genetics.
Meeting a desperate need for expertise
Dr. Tsilianidis’ passion for treating GSD was ignited during her recent fellowship at University of Florida-Gainesville, where her mentor, David Weinstein, MD, MMSc, established the country’s largest multidisciplinary GSD program in 2005.
“We’re basically two-of-a-kind,” says Dr. Tsilianidis. “Our Cleveland Clinic program is modeled exactly after the one Dr. Weinstein has in Florida. A few other centers across the country treat GSD, but no others treat it the same way.”
The success of Dr. Weinstein’s program, which draws patients from across the United States and 37 other countries, has resulted in an 18-month waiting list. “He is closing the program to new patients and now referring them to Cleveland Clinic,” Dr. Tsilianidis says. In the short time since Cleveland Clinic’s program opened, it has treated a number of local patients as well as children from several other states.
“Dr. Tsilianidis meets a very high standard of care,” says Dr. Weinstein. “I am thrilled to be able to send GSD patients to her and delighted that Cleveland Clinic is committed to treating a rare disease like GSD.”
Early diagnosis and treatment critical
GSD is caused by genetic mutations, most of them autosomal recessive, that render the liver unable to control the use of glycogen and glucose. At least 10 different types and subtypes of GSD, affecting an estimated 1 in 20,000 children, have been identified. They vary in severity and are classified by which enzymes are missing.
“We can do blood or saliva testing for every type of GSD,” Dr. Tsilianidis says. “Each of these diseases is distinct, with unique lab abnormalities. Once they are narrowed down, we do genetic testing.”
Early diagnosis and treatment of GSD, especially the more serious forms, is critical, Dr. Tsilianidis says. Inadequate treatment can result in death, need for a liver transplant or other serious complications.
Milder forms more common than thought
Although milder forms of GSD tend to improve as patients grow older, children who are diagnosed and treated at a young age can benefit from increased energy and muscle strength, avoidance of delayed puberty, and normal growth.
“General pediatricians may see the milder forms more often than they realize, especially in patients presenting with ketotic hypoglycemia,” Dr. Tsilianidis says.
Simple yet complex
Although GSD can be treated by something as simple as cornstarch — and, for some types, medical-grade protein powder — management can be complex. “We need to evaluate metabolic control and the risk of complications, and then titrate therapy accordingly,” Dr. Tsilianidis says. “While children are growing, we like to see them at least annually — or every 6 months if they are local.” She stays in close contact with referring physicians so they can manage their patients’ condition between these semiannual or annual visits.
The GSD Program offers inpatient and outpatient services. Clinicians monitor inpatients’ overnight blood sugar levels for a couple of days, as well as monitor hourly ketone and lactate levels. “If we can keep blood sugar normal at all times so that ketones or lactates don’t get elevated, we know we can prevent long-term complications,” Dr. Tsilianidis explains.
To refer a patient with diagnosed or suspected GSD to the program, call 216.445.2082.
Tackling Childhood Obesity
Fit Youth Program Expands to More Locations and Broader Base of Families
Cleveland Clinic Children’s Fit Youth program has expanded – both geographically and in the range of children and families served.
Cleveland Clinic Children’s has introduced this popular family weight management program to two new community locations: Lakewood Hospital Community Center and Cleveland Clinic Community Health and Education at Langston Hughes Center in Cleveland’s Fairfax neighborhood.
These new sites — together with Fit Youth’s six other locations at Cleveland Clinic family health centers in Beachwood, Independence, East Cleveland, Strongsville, Willoughby Hills and Wooster — make the program conveniently located for almost all families in Northeast Ohio.
We also have made the program accessible to many more families by extending eligibility to participants with a BMI at or above the 85th percentile for their age. The previous cutoff was the 95th percentile.
Fit Youth is a 12-week family weight management program for children 7 to 16 who are serious about weight control. The aim is to help parents and children or teens embrace healthier eating habits, improve fitness and better manage stress.
During the program’s weekly 90-minute sessions, overweight kids and their parents are coached on eating better and moving more by a pediatric psychologist, a registered dietitian and an exercise physiologist. In one session, a pediatrician specializing in weight management helps the kids learn about the medical complications of carrying too much weight.
Sessions are grouped by age — one group for children 7 to 11, another for 12- to 16-year-olds — with parents included in each. The shared setting provides vital peer support and helps families discover that they are not alone in the issues they face.
Fostering motivation and family involvement
“Our focus is on the healthy changes they can keep going for the rest of their lives,” explains pediatric psychologist Eileen Kennedy, PhD, who founded the Fit Youth program. “We know they can’t change everything at once. We start with high positive expectations and teach parents and kids how to stay motivated to make the changes they can commit to.”
Paying attention to food and activity choices is another priority message. “We emphasize that the opportunities for change are always greatest when the effort is a family affair,” Dr. Kennedy says. “Parental involvement is key.”
Families pay $250 for the program, and funding is available for eligible families who are on Medicaid or who lack health insurance.
To enroll a patient in the Fit Youth program, call 216.986.4128.
Fast-Tracking Pediatric Fractures
Your patients will break bones. That’s childhood. When it happens, you have a helpful option from Cleveland Clinic: the “same-day” Pediatric Fracture Clinic.
Children’s bone fractures need quick attention. Cleveland Clinic’s Pediatric Fracture Clinic is able to provide that and much more. If a family calls on a weekday before 1 p.m., a child with a fracture will be seen that same day by one of our pediatric orthopaedic specialists.
“Fractures are perhaps the leading reason for referral to pediatric orthopaedic surgeons,” says Ryan C. Goodwin, MD, Director of the Center for Pediatric and Adolescent Orthopaedics.
While most children’s fractures can be managed without surgery, operative treatment provides superior outcomes for select injuries. Fractures that typically do better with operative treatment, Dr. Goodwin says, include open or compound fractures, displaced growth plate fractures and fractures that involve the surface of a joint.
Treatments for growth plate fractures include casting, gentle closed manipulation and sometimes surgery to optimize the position and function of the growth plate. Specific orthopaedic treatments can significantly reduce the risk of permanent growth arrest and improve conditions that encourage normal skeletal growth, Dr. Goodwin notes. If a permanent growth plate injury occurs, it is important for children to be treated by a pediatric orthopaedic specialist because further treatments can help improve the final outcome.
When appropriate, the Pediatric Fracture Clinic uses waterproof casts and fracture braces for children, allowing recovering patients to engage in a wider range of activity. The ultimate goal is to return the patient to school, sports, dance and other activities of childhood as early as possible.
To refer a patient to the Center for Pediatric and Adolescent Orthopaedics, call 216.445.0096.
For Kids and Teens with Headache, Group Behavioral Therapy Offers Strength in Numbers
Cleveland Clinic Children’s is now offering group behavioral treatment to children and teenagers who experience recurrent headache — the only program of its type currently available in Northeast Ohio.
Treatment includes five weekly 90-minute sessions focusing on cognitive and behavioral strategies to help young patients independently manage their headaches. The group sessions, which typically include eight to 10 patients, are meant to complement other treatment recommendations from the referring pediatrician or pediatric neurologist.
A nonpharmacologic approach with group support
Sessions involve teaching and practicing the following skills-based nonpharmacologic strategies for reducing the intensity, frequency and duration of headache and improving patients’ daily function:
- Relaxation training
- Stress management
- Emotional control/cognitive restructuring
- Fostering daily health habits
“There is a breadth of research demonstrating the effectiveness of behavioral interventions for treating pediatric headache,” says pediatric psychologist Ethan Benore, PhD, BCB, ABPP, who leads the group sessions. Dr. Benore’s program itself has shown statistically significant reductions in both the number and intensity of headaches among participating patients.
“Treating children in group formats can be a mutually beneficial experience,” Dr. Benore adds. “Children learn from and support each other during the process.”
Although parents are not present in the group therapy sessions, they also learn strategies to effectively monitor and support their child’s headache self-management and help their child succeed in his or her regular activities.
All types of primary headache
Appropriate patients include children and teens with recurrent tension-type headache, migraine or mixed headache. Patients with secondary headache are not currently treated in group sessions.
Patients referred for potential group therapy undergo an initial evaluation with Dr. Benore, who decides collaboratively with the parents if a child would be best served by group or individual therapy. At the end of the group sessions, a summary of the treatment and the child’s progress is sent to the parents and the referring pediatrician.
Group sessions are held Tuesdays from 4 to 5:30 p.m. at the Cleveland Clinic Children’s Hospital for Rehabilitation Campus.
To refer a patient for evaluation for the group treatment sessions, call 216.448.6668.
New Staff Spotlight
Critical Care Medicine
Ignacio Federico Fernandez Nievas, MD
Specialty interests: Postoperative cardiac intensive care, extracorporeal membrane oxygenation, acute respiratory distress syndrome, ventilatory support and patient ventilator synchrony, asthma
Location: Main campus
Laleh Bedocs, DO
Specialty interests: Pediatric dermatology
Location: Independence Family Health Center, Avon Lake Family Health Center
Developmental And Rehabilitation Pediatrics
Carol Delahunty, MD
Specialty interests: Behavioral issues in early childhood, developmental delays and disabilities, Down syndrome, fetal alcohol syndrome, fragile X syndrome, intellectual and learning disabilities, speech/language delay
Location: Hospital for Rehabilitation campus, Strongsville Family Health and Surgery Center
Blanca Gonzalez, MD
Specialty interests: Staphylococcal infections (MRSA and MSSA), osteomyelitis and septic arthritis, transplant infectious diseases, general pediatric infectious diseases
Location: Main campus
Elia Pestana Knight, MD
Specialty interests: Epileptic encephalopathy, pediatric epilepsy syndromes and comorbidities, quality of life in children with epilepsy, pediatric epilepsy surgery, neonatal electroencephalography
Location: Main campus
Nathan Kraynack, MD
Specialty interests: Cystic fibrosis
Location: Main campus
CME from Cleveland Clinic Children's
May 1, 2013
Pediatric Update 2013: Pediatric Pulmonology
Pediatric pulmonologists from Cleveland Clinic Children's will present on:
- Current and new therapies in asthma management
- Sleep problems/management and treatment in pediatric patients
- Current diagnosis and management of cystic fibrosis
- Diagnosis and management of respiratory syncytial virus (RSV) bronchiolitis
Hillcrest Hospital Ross Auditorium – Atrium Medical Building
12 p.m. – 5 p.m.
Download the program guide and registration form.
May 14-16, 2013
Dinner Program: A Practical Approach to Urinary Tract Infections in Children
A faculty of pediatric urologists, pediatric nephrologists and specialized nurse practitioners will present on:
- Current Management of Recurrent UTI and Vesicoureteral Reflux
- UTI: More than a Pain in the Back
- Dysfunctional Voiding and Biofeedback
May 14, 2013 — Twinsburg Family Health and Surgery Center
May 15, 2013 — Richard E. Jacobs Health Center (Avon)
May 16, 2013 — Beachwood Family Health and Surgery Center
5:30 p.m. – 8:30 p.m.(each evening)
Free. RSVP by May 3 to 216.448.6600 or firstname.lastname@example.org.
May 24, 2013
Annual Helen and Ronald Ross Symposium on Pediatric and Adult Congenital Heart Disease
For details, call 216.444.9125.
Aug. 26-30, 2013
19th Annual Pediatric Board Review Symposium
Renaissance Cleveland Hotel, Cleveland, Ohio
Comprehensive review to prepare physicians for pediatric board certification or recertification. Program and registration at ccfcme.org/PedReview13.
Coming Spring 2014:
Cleveland Clinic Children’s First Annual Pediatric Conference, to be held in Cleveland, Ohio. Details coming soon!
Free Virtual CME
The newest free online CME activities from Cleveland Clinic Children's include “The Approach to Pediatric Patients with Recurrent Fevers,” an interactive case-based lesson in Cleveland Clinic’s popular Disease Management Clinical Decisions series.