Rare Disease Day is an international day of recognition to raise awareness for conditions affecting fewer than 1 in 2,000 people and the impact they have on patients’ lives. It’s an opportunity to build community among the 300 million people worldwide living with a rare disease, advocate for further research, and improve access to diagnosis and therapies.
In honor of this day, we want you to meet and get to know three kid experts who have dedicated their careers to diagnosing, treating and researching rare diseases. From Prader-Willi syndrome to cystic fibrosis to rare cancers, these researchers have made an immeasurable impact on the search for cures and on the quality of life for the patients they serve. Learn more about Jennifer Abuzzahab, MD (left), pediatric endocrinologist; Brooke Moore, MD, MPH (middle), pediatric pulmonologist; and Kris Ann Schultz, MD (right), pediatric oncologist, and the strides they’re making every day.
Jennifer Abuzzahab, MD
Dr. Abuzzahab is a pediatric endocrinologist at the McNeely Pediatric Diabetes Center and Endocrine Clinic at Children’s Minnesota. She has worked here for nearly 25 years.
Hypothalamic obesity (HO) is a condition where the hypothalamus (a small area in the brain that is responsible for integrating the signals that control our autonomic functions) is damaged from a brain tumor or therapy. Damage to this small area of the brain not only results in poor temperature regulation and sleep disorders, but also rapid weight gain, changes in satiety and lower energy expenditure.
There is some overlap between HO and a genetic disorder called Prader-Willi syndrome (PWS). PWS is a rare genetic condition (1 in 15,000 births) and recognized as the most common genetic cause of life-threatening childhood obesity. We have been part of several research studies focused on treating the hyperphagia (insatiable appetite) seen in people with this genetic disorder.
Turner syndrome occurs in 1 in 4,000 females and is the most common sex chromosome difference in females. These children have one x chromosome instead of 2 and have endocrine conditions, including growth hormone resistance (short stature and slower growth) and ovarian failure.
Finally, my team and I also participate in achondroplasia clinical trials. Achondroplasia is the most common cause of dwarfism, occurring in approximately 1 in 25,000 births. Children with achondroplasia have shortened limbs and skeletal problems due to the genetic difference in how their long bones grow.
I have been part of the neuro-oncology team since 2002. Working with brain tumor survivors, especially those with hypothalamic damage and weight gain after treatment, got me initially involved in obesity research. When I was on maternity leave (in 2006), I was reading about a new category of medications called GLP1s used to treat type 2 diabetes. You now know these from all the TV ads: Ozempic, Victoza, Mounjaro and so on; I wondered if they would be beneficial medications for brain tumor survivors who suffer from hypothalamic obesity. After I returned from maternity leave, I applied for an investigator-initiated grant to study this medication in children with hypothalamic obesity. Our research department has grown dramatically since that time, or as they say…the rest is, well, history.
We participate primarily in clinical trials sponsored by pharmaceutical companies, hoping to bring their new therapies to patients with rare diseases. The goal of this research is to ensure that new therapies are safe and effective. As an example, our current research on hypothalamic obesity is looking at a new medication that works on a hypothalamic receptor called the MC4R, to see if it can increase energy expenditure and lower the rate of weight gain in children and young adults who have this condition. This medication activates the hormone pathway in the brain that controls hunger (tells you that you are full and increases your energy expenditure). We are studying to see if it can also help to control hyperphagia, eating patterns, sleep cycles, quality of life and obesity in patients with HO.
We have an amazing research team in the endocrine department and are involved in studies looking at novel treatments for many rare diseases, including Prader-Willi and hypothalamic obesity, Turner syndrome and achondroplasia.
Do what you love and surround yourself with like-minded people!
Brooke Moore, MD, MPH
Dr. Moore is a pediatric pulmonologist and the medical director of the Children’s Minnesota Cystic Fibrosis Center. She has served our patients and families in multiple capacities, totaling 26 years.
I study cystic fibrosis, a genetic condition that affects multiple systems in the body, including the respiratory, digestive and reproductive systems. It causes the body to make thick, sticky mucus that builds up. In the respiratory system, this mucus blocks the airways, causes breathing problems, coughing, wheezing, and chest and lung infections. In the digestive system, it can make it harder to absorb nutrients from food, which can lead to poor growth or trouble gaining weight. Cystic fibrosis is inherited, which means you need to get the gene from both parents to have the condition. There’s no cure yet, but with advances in treatment and new medications, most people with cystic fibrosis can live longer, healthier lives.
My first job after college was at Children’s Respiratory and Critical Care Specialists (CRCCS) working at the front desk. At that time, in 1998, I was 23. The median life expectancy of people with cystic fibrosis was 24. Adult cystic fibrosis centers were just starting to be created because, up until then, patients didn’t live long enough to transition to adult care. This was eye opening and transformative for me. From 1998 until now, the median life expectancy for people with CF has increased to 61. Many therapies and interventions have been developed and implemented to treat the consequences of cystic fibrosis and improve the quality and quantity of life for CF patients.
I was also struck by the relationships that the CF team members have with their patients. As a pediatric pulmonologist, I see my patients with CF more often than their primary care providers; monthly the first 6 months of life, every other month until a year of age, and every 3 months thereafter until they transition to adult care. The relationships we build with these families are one of the reasons I was drawn to CF and drives my commitment to participate in research, with the goal of one day finding a cure.
Our Cystic Fibrosis Center is part of the CF Foundation Therapeutics Development Network (TDN), which aims to speed up the development and approval of new therapies for CF. The TDN is the world’s largest network of clinical trials for CF. The goals of the TDN are ensuring the quality and safety of clinical trials by standardizing and centralizing the research process, improving trial design and recruitment, evaluating biological characteristics to predict likelihood of having a positive clinical impact, involving people with CF as key stakeholders in research projects and delivering new and better therapies.
By participating in clinical trials at Children’s Minnesota with the support of the TDN, we can bring cutting edge research to our patients. Some of our patients have been the first to benefit from highly effective modulator therapy (HEMT). HEMT is a group of oral medications that restore the function of the CFTR protein, which helps to maintain the balance of salt and water on many surfaces in the body. HEMT has been touted as one of the greatest advances to date in cystic fibrosis care. For many patients, HEMT has been life changing.
I am blessed to do the work I do. I love having the ability to build long-term relationships with families, witness children improve and grow, and experience the impact of treating breathing issues that can greatly affect a child’s quality of life. Seeing children get better and being able to positively influence their development through managing respiratory conditions is incredibly fulfilling.
My grandpa used to say, “Can’t never did anything.” He taught me from an early age to always keep going and not give up when things are hard. This has carried me through many phases of life, both professionally and personally.
Kris Ann Schultz, MD
Dr. Schultz is a pediatric oncologist, scientific director of the cancer and blood disorders program and principal investigator for the International Pleuropulmonary Blastoma (PPB)/DICER1 Registry and International Ovarian and Testicular Stromal Tumor (OTST) Registry. She’s been a kid expert for 17 years.
Our team studies DICER1 related cancers, which are rare cancers that are related to a gene called DICER1. DICER1 is a critical gene in cell reproduction so it’s not too surprising that variants in this gene can lead to increased risk of cancer. One thing to note is that most people with DICER1 variants don’t develop cancer; so, part of our work is trying to understand why these cancers develop and also what might prevent these cancers from developing.
Definitely the kids and families impacted by these rare conditions. Caring for kids with cancer means seeing love in action every single day. Learning from these kids and families and being inspired by them is one of the very best parts of this work.
Our goals are to find ways to detect these tumors in their earliest and most curable form and to discover novel therapies to treat these tumors. We know that early detection means better outcomes and we are always searching for more effective and less toxic treatments. We do this through the International PPB/DICER1 Registry and the International OTST Registry. Through these two registries based at Children’s Minnesota, individuals of any age from all over the world can share their medical journey and leftover tumor samples to advance research.
Cancer research is a team sport! Each person, no matter their age or location, can contribute to this work. Every journey truly matters in this work to improve outcomes for kids and grownups with these rare conditions. Just recently, we gathered data from 713 individuals with a DICER1 variation and used this data to refine surveillance guidelines, working toward detecting these tumors in their earliest and most curable form.
I’d also like to highlight our amazing team working on this research: Anne Harris, Paige Mallinger, Alex Nelson, Anna Dybvik, Melissa Abraham and Brenya McNally. This team of scientific detectives is leading the way in discovery for these rare conditions.
My favorite quote is, “Difficult things take a long time, impossible things a little longer.” We can do this. It will take hard work — and more than that, it will take all of us working together — but we can do it!
