There were no major concerns until after birth when Mason’s pediatrician noticed his limb length was still a little shorter than normal. When Mason was one day old, the Hendersons were advised to do genetic testing.

They made an appointment with Candace Gamble, M.D. at Cook Children’s Genetics.

“Dr. Gamble was an answered prayer,” Whitney said. “She has been so patient with us and gone above and beyond to share information, answer questions and do virtual appointments since we are two hours away.”

Diagnosed with Diastrophic Dysplasia

“One of the difficult things about a rare disorder is the uncharted territory it creates, not only for the patient and family, but also for the medical team,” Dr. Gamble said. “At Cook Children’s Genetics our physician lead team has expertise and training in recognition of rare disorders that shortens the diagnostic odyssey for our patients.”

Mason was diagnosed with diastrophic dysplasia (DTD), a type of skeletal dysplasia and a rare genetic disorder that affects cartilage and bone development in the hands, face, ears, feet, hips, legs and spine. Skeletal dysplasia can also cause dwarfism, where people are shorter in height, 4 ft. 10 in. or less on average.

“Initially, when Mason presented his condition, it was not thought to be a skeletal disorder, but he had one distinctive clinical feature that I recognized which made the diagnosis clear to me,” Dr. Gamble said. “Also, after testing is complete, our team’s experience in gene variant interpretation and resolution allows us to confirm a diagnosis faster, which is exactly what happened in Mason’s case.”

Finding Your Tribe

Fast forward to today. Mason is 3 years old and despite the challenges, has shown incredible resilience. Whitney has connected with other families online in the skeletal dysplasia community, and with variants of DTD and recessive multiple epiphyseal dysplasia (rMED).

While they haven’t found anyone with Mason’s exact gene combination or “mild” gene expression, Whitney and her husband have found solace and encouragement in the shared experiences.

“Although it can be a bit isolating because Mason doesn’t fit the standard DTD mold, seeing others be so successful in life has been encouraging us as parents to know we aren’t alone,” Whitney said.

A Team Effort for Advocacy and Awareness

Living with a rare disorder can be challenging for anyone. Like neurological disorders including autism and epilepsy, skeletal dysplasia can also be seen on a “spectrum” where some people need more medical intervention than others.

Learning about different types of skeletal dysplasia while encouraging her son to be independent has been helpful for Whitney’s family. She also recommends standing up for your child.

“I never anticipated questions and comments from strangers on Mason’s size so it pushed us to learn saying things like: ‘Kids come in all sorts of shapes and sizes!’ and ‘You are so mature.’ instead of ‘You are so big,’” Whitney said. “Changing how we speak to him and others to make it about maturity rather than size really helps. I also encourage other parents to always advocate for your kids. Only you know your kids!”

Whitney’s Passion Project: A Storybook Inspiration

Inspired by Mason’s strength and a little stuffed lion, Whitney wrote a children’s book, Little Lion, so brave and strong, to celebrate the unique qualities of children with disabilities and encourages a message of belonging.

“When Mason was a baby, his great-grandma got him a stuffed lion. He loved that lion and clung to it,” Whitney said. “Each night before bed I started telling him ‘You are strong. You are brave. Like a lion!’ and we still say it together every night.”

As time went by, Whitney wondered if her routine with Mason could be something helpful for other parents and children.

“I’m not a writer, my day job is in cybersecurity so this was out of my comfort zone, but God kept nudging me to pursue it,” she said. “I told my husband and he supported the idea. Over the course of a year, we came up with ideas, researched publishing, found an illustrator and eventually self-published online.”

Whitney didn’t care if the book ever became popular, but her hope was for Mason to know that he always belongs and to pass the message to other kids.

“My favorite line from the book is ‘Little lion, so brave and strong, always know that you belong,’” Whitney said. 

Dr. Gamble was also happy Whitney published a book to tell Mason’s story.

“I’m thrilled that Mrs. Henderson is a champion for Mason in writing this book and telling his story,” Dr. Gamble said. “It has been a joy to help Mason and his parents navigate this rare condition. I hope to be an advocate for them along Mason’s journey now and into the future. Our goal is to ensure that he thrives in spite of his challenges.”

March is Women’s History Month. While the country commemorates the role of women in American History, at Cook Children’s Health Care System, we celebrate the role of women in building one of the largest free-standing pediatric health centers in the country. 

After all, it was the vision and generosity of two women that started it all. 

One was a former postmistress with few financial resources, Mrs. Ida L. Turner, who dreamed of a place where fragile babies would be cared for regardless of their family’s ability to pay. Her vision and hard work led to the opening of the Fort Worth Free Baby Hospital in 1918. 

The other was a wealthy heiress who wanted to honor her late husband by helping sick children. In 1929, Mrs. Missouri Matilda Nail Cook dedicated the oil royalties from the Cook Ranch to build the W.I. Cook Memorial Hospital. 

Eventually, the two children’s hospitals became one and grew to be one of the finest pediatric medical institutions in the country with more than 1.5 million patient encounters every year.

Throughout our 105-year history, the women of Cook Children’s have championed children; nurtured the sick and hurting; led innovation in science, medicine and technology; and steered health care with imagination, safety, generosity, kindness, respect and collaboration.

While these women number in the thousands over the history of Cook Children’s, this year, we’re highlighting a few who have made their mark in medicine. Each woman comes from a different background, different specialty and different decade, but they all share two things — a passion for their work and the Promise to improve the well-being of every child in our care and our communities. 

Shanna Combs, M.D., FACOG

Pediatric and Adolescent Gynecology

Years at Cook Children’s: 2

Shanna Combs, M.D., is the first pediatric and adolescent gynecologist in the history of Cook Children's Medical Center. While her dad says she talked about wanting to be a doctor as a child, Dr. Combs chose to study ballet at Texas Christian University and initially pursued a career in dance.

But the desire to do something that would help people drew her focus back to medicine. Even then, Dr. Combs swore she would never be an OB/GYN. Her first rotation in women’s health changed her mind.

“I love the diversity of the field and taking care of women throughout their life,” Dr. Combs said. “Delivering babies, there is still nothing cooler. I do that for fun on the weekends.”

Dr. Combs unintentionally worked her way into the subspecialty of pediatric and adolescent gynecology (PAG). 

When Dr. Combs first became a doctor, her OB/GYN clinic was a few floors above a pediatric health clinic, and her office received many referrals from pediatricians there. It turns out she really enjoyed treating children and teen girls. Years later, when Cook Children’s was looking for a gynecologist, Dr. Combs happened to be ready for a new challenge. The rest, as they say, is history.

In her Cook Children’s practice, Dr. Combs treats girls ages newborn to 22, with the majority being in the tween to teen stage. Most of the time she helps them navigate issues with menstruation. She treats medically-complex kids who need care for hormonal and menstrual issues. She also treats children diagnosed with an ovarian or pelvic mass.

“I have just always been passionate about taking care of little ladies,” she said of her transition into full-time pediatric medicine. 

Dr. Combs says the PAG subspecialty is fairly new to the world of obstetrics and gynecology. There are only 18 academic medical centers in the United States with PAG fellowships, according to the North American Society for Pediatric and Adolescent Gynecology. 

Her advice to women considering a career in medicine is to choose an area that they really love. 

“Pick your passion,” she said. “That’s the secret sauce. If you pick what you're passionate about and you enjoy the work you do, then you'll never go wrong.”

Elizabeth Leeper, MSN, RN, CNOR

Manager of Surgical Clinical Excellence

Years at Cook Children’s: 27

Elizabeth Leeper has been a staple in Cook Children’s surgery department since she began as an operating room nurse in 1996. Today, she is the manager of surgical clinical excellence, a role she pioneered in 2017 and built from the ground up. So far, she is the first and only one to hold the position.

Leeper and her team of three reviews every single surgical case at Cook Children’s Medical Center to monitor for quality and safety. It’s no small feat for her small department. Under Leeper’s leadership, their hard work earned Cook Children’s a Level I designation as a Children’s Surgery Verified program from the American College of Surgeons. 

To achieve this designation, hospitals must meet a rigorous set of safety standards and demonstrate they have the resources needed to provide children with high-quality surgical care. There are only five pediatric hospitals in Texas with this designation, and Cook Children’s was the first in North Texas to be named a Children’s Surgery Verified program in 2019. 

“By the time I finished our application, it was over 100 pages,” Leeper said. “They look at any part of the hospital system that might potentially touch a patient and want to know information about that. I had to gather information from the lab, pharmacy, radiology, transport, all our surgeons, administration … you name it. I'm in the middle of our renewal application right now, so I'm working on pulling that information together.”

Leeper doesn’t mind the endless information collection and review. She follows in the footsteps of her childhood inspiration and founder of modern professional nursing, Florence Nightingale, who also used statistics and data to improve health care as far back as the mid-1800s.

“I discovered how much of a data nerd I really am,” she said. 

Today, Leeper draws inspiration for life and work from her daughter. 

“We have an adult daughter with a really rare neuromuscular disease,” she explained. “She lives with us and is wheelchair-bound. Knowing that she gets up every day and watching her deal with what she has to deal with, I know that if she can do it, I can do whatever is before me.”

When the load gets heavy, Leeper leans on her faith and prayer to carry her through.   

“Just being able to know that there is a God, and he does love us and that he takes care of us is an important part of my life,” she said. “I know that he's there even though, sometimes, it's hard to see.”

Lisa Elliott, Ph.D., Psychologist

Manager of Cook Children’s Behavioral Health Clinic in Denton

Years at Cook Children’s: 29

Psychology is a second career for Lisa Elliott. Initially, a human resources director with a degree in business, Dr. Elliott began taking psychology classes to better understand how to help the employees she represented. 

“I would have to call in employees for failure to show up to work, wage garnishments or disciplinary actions, and there were always reasons for that, like family, emotional or mental struggles,” she said. “So I decided to enroll in a couple of psychology courses where we were living at the time to understand how I could better help our employees.”

Dr. Elliott found the courses fascinating and impressed her professors, who encouraged her to continue her path in the field. She eventually applied and was accepted to the doctoral program at the University of North Texas where she specialized in neuropsychology. 

Dr. Elliott calls herself a non-traditional neuropsychologist because she uses both the therapy side of psychology and the testing and research side of neuropsychology. 

“I always thought I wanted to do therapy, but that's when I felt like you could nurture anyone into health,” Dr. Elliott said. “Then I discovered that nature and what a child is exposed to in utero is a huge piece of this, too. That's when I changed and recognized the value of testing and started a huge focus also in neuropsych.”

In 1994, she developed and opened Cook Children’s first outpatient behavioral health therapy clinic in a 500-square-foot office in Denton. Within months, demand for the service forced the clinic into a bigger space.

Dr. Elliott mentors and trains the next generation of neuropsychologists, too. For 22 years, she has led a neuropsychology fellowship program that provides training for people completing graduate degrees and requirements for full licensure. 

While impactful, neither of these accomplishments makes her proudest moments list. For that, she thinks only of her patients. 

“This isn’t about me,” she said of her work. “What gets me in my little happy zone is actually when I see my patients’ success and see them excel, thrive and take pride in the coping skills they've learned and their increased self-confidence and self-esteem, that brings me to tears.”

When adversity comes, Dr. Elliott turns to prayer and leans on her source of hope — her faith in God. Then, she looks for ways to serve others.

“I've always decided that not only do I want to look for the helpers when there is trouble, but I want to be the helper,” she said. “I want to model that hope, kindness and compassion. When we are doing for others, that also helps us through our own personal adversity.”

Carla Smith, D.O., FACOP, FAAP

Pediatrician at Cook Children’s Pediatrics Burleson

Years at Cook Children’s: 14

Carla Smith, D.O., was a member of one of the first graduating classes at the University of North Texas Health Sciences Center in 1979 — one of only three females out of 70 students. Even so, she doesn’t consider herself a trailblazer for women in medicine.

“You become a family with the people that you spend that much time with,” Dr. Smith said. “As students, we all just wanted each of us to succeed, not caring if we were male or female.”

Dr. Smith can’t remember a time when she didn’t want to be a doctor. She knew, even as a child, that she would pursue a career in medicine. The desire to be a pediatrician came during her pediatric rotations in medical school. 

“I realized how much I enjoyed working with children and their zest for life and wellness,” she said. “And possibly a little bit of selfishness as I realized that children love to be well, and they could make me laugh and help me keep a young and healthy attitude.”

Dr. Smith was one of the first locums doctors for the system. A locums doctor works temporarily for another physician. She initially worked part-time for a Cook Children’s physician in Granbury who needed a day off each week to be with her young children. Dr. Smith went on to work temporarily at many local physician offices when they needed someone to fill in. 

Then, in 2010, Cook Children’s built a clinic in Burleson, where Dr. Smith has lived since 1995. She jumped at the chance to work full-time in her own community.

“I was hired, as was Dr. Lanna McClain, and I can honestly say that we both cried when we arrived at our beautiful office for the first time,” she said. “That is my proudest moment, the opening of the Burleson office, and being able to work in my hometown! It has now been open for 13 years. A fantastic office with three physicians, two nurse practitioners, a great office manager and a great staff.”

The journey to becoming a pediatrician wasn’t always easy, she said, but Dr. Smith wants other women considering a career in medicine to know the hours of study, training and sacrifice were worth it. And when they get overwhelmed, to do what one of her professors once told her: “Take it one step at a time.”

Candace Gamble, M.D.

Medical Director, Genetics

Years at Cook Children’s: 7

As a geneticist, Candace Gamble, M.D., puts together the pieces of a patient’s genetic puzzle, including medical and family histories and genetic testing results, to identify an underlying disorder. Once a diagnosis is made, she and her team help patients and their families navigate their health care needs through counseling and advocacy. 

In college, Dr. Gamble thought she wanted to be a lawyer, but after a little more than a year following that path, she realized her heart wasn’t connecting with the legal profession. So she pivoted and found her calling in the biological sciences. 

“I look at my work as a calling when the days and weeks become difficult, so my faith is what does it for me,” Dr. Gamble said of what gets her through adversity. “I’m not sure I could have made it through this long journey to medicine without my faith foundation. It’s not about me and my accomplishments, but about my divine purpose.”

Watching her team work together to find creative solutions to overcome recent staffing challenges is one of her proudest moments at Cook Children’s. Dr. Gamble said each person in her department, from administration to clinical staff to the nurse practitioners and fellow doctors, has been incredible team players and instrumental in developing creative solutions to continue to meet their patient’s health and well-being needs. 

“I love caring for our patients but my work family in genetics makes it so much easier,” she said.

During her residency, and thanks to the influence of one of her mentors, Dr. Gamble became interested in the study of skeletal dysplasias, a category of rare genetic disorders that affect a baby’s bones, joints and growth. She has been an investigator in several skeletal dysplasia research studies and a contributor to many publications.

“Much of the research I have done was all natural history studies, learning more about the disease process and how they affect patients,” she said. “But now we are entering an exciting time where treatment options are available for specific conditions and patients and families that desire treatment. One example of this is vosoritide, a daily injection that can be used for those with achondroplasia, which is the most common skeletal dysplasia, to increase final adult height.”

Having a mentor, she said, kept her moving forward in the pursuit of her passion. Dr. Gamble encourages other women working towards a career in health care to find someone, in medicine or another profession, that will hold them accountable to their dreams and goals. 

“Those dreams were put upon your heart for a reason, and I truly believe they are part of your destiny and purpose,” she said. “Having a mentor is especially important for women of color who may lack access to tangible representation in a certain field.”

From the moment she was born, Taylor knew there was something different about Rubye. She immediately noticed her dark eyes consistently avoided direct light. While this isn’t completely uncommon for newborns, Taylor knew this was different from her older daughter.

“I was born with crossed eyes, so I’ve always paid really close attention to my daughters’ eyes to make sure they weren’t turning in,” Taylor said. “I started to notice that she wouldn’t open her eyes at all unless the light was directly covered. I remember when I was in the hospital with her, I noticed if I blocked the light behind my head that she would open her eyes a little bit. It was interesting because no one else caught onto this so I just kept looking at her eyes.”

Rubye went home with her family but quickly developed an eye infection, to which Taylor brought her to their family doctor. Taylor asked the nurse if she could tell what Rubye’s eye color was, and was told it was difficult to tell due to how dilated her eyes were, but the outer portion looked blue.

Taylor’s intuition knew something wasn’t right. Rubye’s eye had a slight tremor and she was extremely small for her age. Taylor began to diligently search for an answer that would make sense.

“I finally looked up no irises or lack of irises, and I found aniridia,” Taylor explained. “I was in the car with my husband and I just started crying. He asked me what was wrong and I just said, ‘I think I know what’s wrong with Rubye.’”

Aniridia is an eye disorder known for causing many eye conditions. For Rubye, she has no depth perception, no detail vision, nystagmus, small optic nerve, lack of the colored part of the eye and others. People with aniridia may have a slight color around the pupil, while others do not, and many experience sensitivity to light and blindness.

After finding this information, Taylor emailed Rubye’s pediatrician and asked them to research aniridia before her upcoming one-month appointment. Rubye was diagnosed with aniridia at this appointment.

Once they received her diagnosis of aniridia, Rubye was scheduled for an ultrasound of her abdomen to check for Wilms tumors, which are more likely to occur with this diagnosis. While her scans at this time were clear, Rubye was sent to Cook Children’s Genetics Center to test for WAGR syndrome, an extremely rare syndrome found in less than 500 people world-wide that encompasses Wilms tumors, aniridia, genitourinary anomalies, and ranges of developmental delays.

“Other kids with WAGR have intellectual delays, some kids don’t speak, some don’t see at all, and some have different physical and mental delays,” Taylor said. “From what we can tell, Rubye couldn’t see until she was about six months old.”

Rubye routinely sees multiple specialists at Cook Children’s to ensure she is making progress, but also receives cancer surveillance appointments due to how quickly Wilms tumors can occur.

“She has to get routine scans every few months, and there’s a build up to those appointments because bad news could be coming. But then we get the scans and everything looks good, and it’s a huge relief. However, then you only get a few months and the cycle starts over,”  Blake Palmer, M.D., medical director of Cook Children’s Urology, said. “Every time I walk in the room to read results, everyone is just holding their breath. And, when everything looks good, that night will always be great for everyone. But, then tomorrow is another day where there is another worry. It’s so hard.” 

Rubye’s routine three-month scans proved to be a necessary intervention when her results showed a mass on one of her kidneys on September 28, 2020. At this point, she began chemo and had a partial nephrectomy of her right kidney.

Since March 2021, Rubye has finished chemotherapy, and graduated from physical therapy, occupational therapy, and her speech therapies. She will begin seeing an endocrinologist due to how small she is, and will continue to have close monitoring for more Wilms tumors.

“It’s hard to know what this will mean for her and her future. Some of the missing genes can cause problems with severe developmental delay, how her body processes proteins and many other possibilities, but I know God is walking right beside me because he has made Rubye so unique and special and has given me the honor of being her mom,” Taylor said. “She is what keeps me positive day-to-day. She has defied so many odds that have been placed in front of her and that’s what keeps me going.”

Rubye’s psychologist, Cortney Wolfe-Christensen, Ph.D., is confident that Taylor’s advocacy will provide a way for Rubye to continue to beat the odds and overcome the struggles that often accompany WAGR syndrome. 

“Rubye's mom has been her biggest advocate throughout this journey. She has navigated Rubye's path through Cook Children's by communicating well with providers and has always been open to learning new information, even when there was a chance the news could be devastating,” Wolfe-Christensen said. “I am confident that with her mom by her side, Rubye will grow up to reach her fullest potential. As clinicians, we are all thankful that we have been able to be part of Rubye's story."

Taylor and her family continue to watch Rubye defy statistics and odds through all of the pivotal moments that she steadily overcomes.

“I once had a friend tell me she celebrates the ‘inchstones.' For our little zebras, which is what individuals with rare diagnoses are often called, they may just make inchstones, but we will celebrate each of those, because they’re a sign of forward growth,” Taylor said.

What is W.A.G.R. Syndrome?

WAGR syndrome is a rare genetic syndrome that is estimated to occur from one in 500,000 to one in 1,000,000 births.

• Wilm’s tumor - Wilms tumor is a type of kidney cancer that is primarily found in children.

• Aniridia - Absence of the iris, typically in both eyes. Aniridia can cause sensitivity to light and additional eye problems such as glaucoma and cataracts.

• Genitourinary Tract Abnormalities

• Range of Developmental Delays - People with WAGR may have intellectual disability, delays in Gross Motor development, delays in Fine Motor development and delayed speech.

To help raise awareness of this rare genetic cause of neurodevelopmental disease, M. Scott Perry, M.D., medical director of neurology and director of the Genetic Epilepsy Clinic at Cook Children’s, shares basic information about the disorder and exciting advancements towards treatment for this rare disease.

What do SCN2A-related disorders look like? 

Children with genetic variants in SCN2A can develop early onset epilepsy with various levels of severity. SCN2A was first discovered as a cause of benign familial neonatal infantile seizures (BFNIS), a syndrome that often occurs in multiple family members. These children can develop seizures as newborns or infants, but can develop normally with good seizure control.

Later, SCN2A was discovered as a cause of infantile spasms and other early onset severe epilepsies of childhood, the so-called early infantile epileptic encephalopathies. The gene has also been linked to Ohtahara Syndrome, Dravet Syndrome, Migrating Partial Epilepsy of Infancy and West Syndrome amongst others. In addition, SCN2A variants are a major cause of intellectual disability, schizophrenia, and autism which may occur without associated epilepsy. A variety of other medical conditions may be present in people with SCN2A-related disorders, including sleep problems, cerebral palsy, and movement disorders to name a few.

What is the cause of SCN2A-related disorders? 

SCN2A is a gene which makes a sodium channel found primarily in the nerve cells that generate electricity. Two issues can occur with SCN2A. The first is a change in the gene which causes a gain of function – a change that allows too much sodium to enter the nerve cell and thus increases electricity – often presenting with epilepsy as a main symptom.

For others, SCN2A variants cause a loss of function – a change that decreases sodium entering the nerve cell and thus decreases electricity – more often presenting with autism and intellectual disabilities. Many mutations in SCN2A are de novo, meaning they occur spontaneously and were not inherited from the parents. This is often the case in more severe disease presentations. There are instances where SCN2A may be inherited from a parent and this is more commonly seen in benign presentations such as BFNIS.

How are SCN2A mutations diagnosed? 

Often, genetic testing can diagnose SCN2A mutations. The Behind The Seizure program provides free testing for children in the U.S. under the age of 8 years.

Magnetic resonance imaging (MRI) scans are often normal and electroencephalogram (EEG) findings may vary.

Is there a treatment for SCN2A-related disorders? 

While there is not yet a cure for SCN2A-related disorders, a significant amount of research is leading to exciting new therapies. Certain traditional sodium channel seizure drugs (for example, phenytoin, lamotrigine) have demonstrated more favorable responses for seizure control in select patients (often gain of function), while in others, sodium channel drugs may aggravate seizures.

New drugs are being developed that specifically target the abnormal channel produced by SCN2A. These treatments may provide more precise control of the channel without disrupting the function of other sodium channels like many traditional sodium channel seizure drugs. This may result in better seizure control with less side effects.

Potentially most exciting is the development of genetic approaches to therapy, treatments that don’t just treat symptoms, but aim to correct the genetic abnormality. Antisense oligonucleotides (ASO) are small pieces of genetic material that can be given to help increase or decrease production of SCN2A. This approach has been used in other genetic conditions (spinal muscular atrophy and Dravet syndrome) with success and represents a promising therapy for SCN2A disorders as well. This is just one of several genetic approaches to therapy on the horizon.

Where can you find more information about SCN2A disorders?

For more information about SCN2A and SCN2A Awareness Day, visit www.scn2a.org. The SCN2A Foundation serves as an excellent resource for information about SCN2A related disorders and helps connect a community of people living with these rare conditions. The site provides updates on SCN2A research as well.

His mom, Crystal, will be the first to tell you her little boy is just "a really cool kid."

Lately, football has put a lot into perspective for me. Take a look at the two starting quarterback for the Super Bowl between New England and Seattle.

New England’s Tom Brady seems to be the prototypical signal caller, standing at 6 feet, 4 inches tall.

On the other hand, Seattle Russell Wilson for the Seattle Seahawks is listed at 5’11.” New England wide receiver, Julian Edelman, who was the star of the Patriots’ victory over Baltimore is listed at 5’10,” which is the average U.S man’s height

Much like the children, we see at Cook Children’s, athletes come in all shapes and sizes.

Probably half of the children I treat are brought by families due to concerns about height. The reality of life is that people come in all heights, and height offers an opportunity to make assumptions and judgments about a person which can sometimes be hurtful.

Cincinnati Bengals Head Coach, Marvin Lewis, created a social media firestorm when he said this about the undersized quarterback for the Cleveland Browns and Heisman Trophy winner at Texas A&M, Johnny Manziel.

“You gotta go defend the offense. You don’t defend the player, particularly a midget.”

Lewis quickly apologized for his words as others including organizations like Little People of American explained to him how derogatory and offensive the term was especially to those with serious medical conditions causing their short stature.

The movie, “Rudy,” is a perfect example. It’s one of the most inspiring stories about a shorter man with a passion for football who overcame the odds. At 5’6”, Rudy Ruettiger wasn’t a typical defensive lineman for Notre Dame, but his hard work and dedication paid off with a chance to play.

My opinion is that it’s important to have the right perspective about height. A good attitude and acceptance of one’s height is important and a person shouldn’t make judgments about another solely on height.

Sometimes it’s something more than just genetics or the child being a “late bloomer,” it can be an endocrine disease and the child will need treatment for a condition such as hypothyroidism or growth hormone deficiency.

At times, we the child may have trouble coping with his or her size and may even need counseling.

In my area of expertise, it is a challenge to determine whether a child’s height is normal or not. There are times when height and growth are abnormal, and further investigation is needed:

Genetics: Shorter parents often times have shorter children. These kids continue to achieve milestones such as puberty or growth spurts at a normal rate, but they generally stay around the same height as their parents.

If a child is terribly uncomfortable with his or her height, we may talk to the family about counseling. If the child doesn’t reach puberty at the normal age, the discussion may include puberty hormone treatment. But, this needs to be decided with your endocrinologist or pediatrician.

Constitutional growth delay: These are often times what’s considered “late bloomers.” Children with condition are small for their age, but continue to grow at a normal rate. They usually reach puberty later than other children and experience delay in sexual maturity. They usually catch up with their classmates, but it sometimes takes them longer.

Endocrine conditions: We treat these children for hypothyroidism or growth hormone deficiency. These children require treatment from an endocrinologist and may need medication for growth.

Turner syndrome: This is a common genetic condition occurring in 1 in every 2,500 girls born. It is caused by missing all or a portion of one of the X chromosomes. The condition varies in severity but has physical and psycho-educational impacts.

Care of girls with Turner syndrome is an integral part of the practice of the pediatric endocrine group at Cook Children’s. The majority of girls affected will have short stature and early failure of the ovaries. Growth hormone treatment is prescribed and monitored by pediatric endocrinologists to treat short stature. The task of monitoring puberty and timing of estrogen replacement is equally important to insure overall health.

In the coming weeks, I’ll give more facts on children’s growth and talk when a parent should be concerned about their child’s growth.

It’s probably not an average-sized, active teenager. But that could be the case if the child has a history of hypercholesterolemia.

Familial  hypercholesterolemia (FH) is an inherited disease, caused by a genetic alteration that causes high blood cholesterol. FH is passed on from generation to generation. 

FH is a common diagnosis in the Endocrinology and Diabetes program at Cook Children’s. One in 500 people have a genetic alteration that causes FH. If one parent has FH, there is a 50 percent chance the child will also have it. Women with FH usually are affected by cardiovascular disease 10 years later than men with FH.

What causes FH?

A change in the gene that codes for low-density lipoprotein (LDL), or what’s sometimes called the “bad cholesterol,” is the particle in the blood stream that carries cholesterol from one cell to another.

Cholesterol is a fatty substance that is needed to build cells, to make hormones, and to make bile acids in the liver. Too much LDL in the blood stream is bad for you and can lead to a buildup in the arteries which will eventually lead to cardiovascular disease.

When you can’t remove the LDL cholesterol from your blood, you have FH.

When FH should be suspected?

• If you have a family history of cardiovascular disease early in life, such as a heart attack before the ages of 50 to 60.
• A high level of cholesterol in the blood.
• Swollen tendons on the heels or hands (xanthoma).
• Yellowish areas around the eyes (xanthelasmas).

How do we diagnose a child with FH?

If your child has the family history or symptoms listed above, a blood test will serve as  DNA testing to find the defective gene. If anyone is diagnosed with FH, all close relatives should be diagnosed because early detection is the key.

Treatment

We begin our treatment of FH with lifestyle changes:

• Decrease saturated fats, which raise the LDL cholesterol level.
• Choose unsaturated fats in place of saturated.
• Increase fiber as that helps lower LDL cholesterol by binding to it and excreting it in the gut.
• Increase exercise – a good rule of thumb is 30 to 60 minutes of exercise each day.

Next, we will look at medication. Medication begins as early as 10 to 12 years old. The treatment will continue for the rest of the patient’s life and could include:

• Statins – to increase the number of LDL receptors to take up LDL cholesterol from the blood.
• Cholesterol uptake inhibitors.

​Familial Hypercholesterolemia can be a scary diagnosis for children and their family, but the child should be able to live a normal and productive life  with proper medication and a few lifestyle changes. 

Reference: Familial Hypercholesterolemia: An educational booklet for patients with Familial Hypercholesterolemia By Dr. Leiv Ose

About the author

Lisa R. Guerra, BSN, RN, is a nurse for the Cook Children’s Endocrinology and Diabetes Program.

Did you know the beginning of April marked national public health week? Probably not. The observance which began officially in 1995 doesn’t garner much in the way of public attention. Still, it serves to highlight public health achievements as well as talk about ongoing public health issues.

Many of the numerous accomplishments of public health are now considered basic services not recognized for the benefit they have given us all in health improvement. The newborn screening program was one of the accomplishments highlighted this year. This program has in particular greatly impacted my specialty of pediatric endocrinology, and I think it is important to acknowledge its important place in public health history.

Every year, newborn screening efforts test nearly every baby born in the U.S. for serious health conditions. Early detection of these conditions allows prompt medical treatment and potentially prevents disability, suffering, and death. In particular, testing the 4 million infants born every year for congenital hypothyroidism costs $5 per newborn and is estimated to prevent 160 cases of intellectual disability associated with untreated hypothyroidism.

I’ve written in the past about congenital hypothyroidism. The condition refers to a specific type of hypothyroidism diagnosed in newborn babies. This serious condition occurs in roughly 1 in every 4,000 newborns and can have devastating effects if not detected and promptly treated. Eighteenth century medical literature described the mental retardation and physical effects of untreated congenital hypothyroidism, cretinism. But only in the last 30 years have doctors been able to detect these issues prior to birth, allowing for parents to be prepared and physicians and family members to lay out a plan for the child’s future.

The Texas state newborn screening for congenital hypothyroidism has been active since 1980. It is estimated that 120-150 newborns in Texas with hypothyroidism are identified annually by screening. The program is a cornerstone in Texas public health and continues to grow. Today, the program tests newborns for 30 life-threatening issues including sickle cell disease and cystic fibrosis. Congenital adrenal hyperplasia screening represents another important life-threatening condition with pediatric endocrine ties that are screened by the state.

There are many other accomplishments in public health largely unrecognized by us. Thankfully, the U.S Centers for Disease Control & Prevention has compiled a list of the 10 great public health achievements in the 20th century.

Many other Cook Children’s specialties besides endocrinology rely on newborn screening to identify at risk babies early. Many of the conditions tested by newborn screening are rare metabolic conditions. The metabolic genetics program offers evaluation and treatment of these inherited metabolic conditions to help families understand and cope with their child’s diagnosis. A visit to that program can help with a more accurate diagnosis and appropriate treatment, while also helping families determine the best short- and long-term care.

About the author

As a self-described ‘techie,’ Joel Steelman, M.D., has a keen interest in the wise use of technology to improve medical care. Since 2001, he has helped implement electronic medical recordkeeping in two endocrine practices. He still loves to write, and he is a regular contributor to the Physician Perspective page on the Cook Children’s Web site.