A 2-in-1-Million Diagnosis 

Among three medical conditions, Leif was diagnosed with X-linked hyper IgM syndrome, a very rare primary immunodeficiency disease which only affects about two in every 1 million male babies. It’s caused by gene mutations on the X chromosome. Individuals with this condition are more susceptible to recurrent and severe infections, including infections that are caused by organisms that do not normally affect healthy individuals. 

“I’m glad we finally figured it out, but then they told us Leif only had two years to live,” Airica said. 

After the diagnosis, Airica and her husband found another doctor, but they had no answers. They didn’t want to feel hopeless and continued searching to find a doctor who could save Leif’s life. 

Life-Saving Care with Cook Children’s Immunology

In her desperate online search for a cure, Airica came across Natalia Chaimowitz, M.D., Ph.D. who leads Cook Children’s Immunology Clinic and reached out to her. Dr. Chaimowitz told Airica she had a treatment for Leif’s X-linked hyper IgM syndrome. 

“As an immunologist, I’ve had the privilege of caring for children with rare disorders like hyper IgM syndrome,” Dr. Chaimowitz said. “These conditions may be uncommon, but their impact is profound. Early diagnosis can truly change the trajectory of a child’s life — giving them access to the care and treatment they need before complications arise.” 

After other doctors said he wouldn’t live past two years, Dr. Chaimowitz gave Airica’s family hope.
 
“Leif has an ultra-rare diagnosis that many physicians have never heard of, or only read about,” Dr. Chaimowitz said. “As a specialized immunology care center, we take care of children with ultra-rare diagnosis and are always up-to-date on diagnostic evaluations and therapeutics.” 

Leif received life-saving care as quickly as possible and had a bone marrow transplant in September 2024. He went into remission soon after and continues to be in remission today.
 
“It was a wonderful experience with Cook Children’s,” Airica said. “In Oklahoma, it was chaotic and no one knew anything, but at Cook Children’s it was amazing — Leif was in the right place, exactly where he needed to be. I can’t ever give Cook Children’s enough gratitude.”
 
In Cook Children’s care, Airica always felt reassured and comforted. She could ask questions and never be afraid of not getting an answer or potential steps to take. Even though he had a few challenges including his liver numbers and had to have a lot of teeth removed from chemotherapy, Airica is so grateful Leif is with her today. He just turned 3 years old in August.
 
“I cry every time I talk to Dr. Chaimowitz because I’m so grateful for her saving my son’s life. For all her work dedicating her time and her life to this field. There are no words to describe how grateful I am,” Airica said.

Overcoming Challenges 

Since Airica’s family lives in Oklahoma, one of their biggest challenges was being apart during Leif’s care, especially in the beginning. Eventually they were able to stay at the Ronald McDonald House in Fort Worth and it made Leif’s regular hospital appointments and treatment a lot easier. 

“We had a home away from home at the Ronald McDonald House and the staff and community helped make the challenging time joyful,” Airica said. “My family got to do fun activities and not feel so depressed all the time.” 

Airica and her family lived at the Ronald McDonald House for six months while receiving care at Cook Children’s. 

Hope for Families 

As with many health challenges, finding relevant educational resources, support and the best health care options possible, makes all the difference in both quality of care and quality of life. It can also be a time when someone may need to open up and lean on friends or family, even if it isn’t easy. 

“I had no idea what to do and was skeptical and scared,” Airica said. “Become comfortable with not being okay, reach out and look for resources that will help you.” 
Airica can’t stress enough how important it is to request genetic testing if your child is in a life or death situation with no answers. Prayers and leaning on her faith also helped Airica stay hopeful through very difficult times. 

“At the end of it all, you get to see your child smile,” Airica said. “It’s a hard journey, but it has been rewarding.” 

Every week, 7-year-old Landon Clayton gets an infusion of medicine that builds up his immunity to fight off infection. Nineteen-year-old Abigail Novak also receives a weekly infusion to strengthen her immune system.

Thanks to those infusions – called immunoglobin replacement therapy -- Landon’s and Abigail’s antibodies are now better equipped to protect them from the bacteria and viruses that made them frequently ill. They are among more than 800 patients seen at the Cook Children’s Immunology Clinic since it opened on July 27, 2021.

Naty Chaimowitz, M.D., Ph.D. runs the Immunology Clinic, which is celebrating its two-year anniversary today. It’s a center for the evaluation, diagnosis and treatment of rare and complex disorders in children from newborn to 20 years old.  The clinic works in partnership with the Cook Children’s Infectious Diseases Department. The goal? Increased awareness and access to care for those whose immune system does not function the way it should.

“I’d get sick with something and then it would take me a lot longer than most people to get over it,” Abigail said of her low antibody diagnosis. “When I did get over it, I’d have a little bit of relief, and then I’d get sick again.”

It was the same for Landon – he kept coming down with respiratory ailments that required antibiotics or steroids or even hospitalization.

“When we think about disorders of the immune system, there are mostly two ways patients present,” Dr. Chaimowitz said. “One of the ways is when you have a hole in your immune system that makes you more susceptible to infection. These are kids who are on antibiotics all the time, or they have more unusual infections or infections with things that normally don't make kids sick.”

The second broad category, called immune dysregulation, happens when the immune system misfires and attacks the body’s own cells instead of foreign invaders.

Referrals

Patients come to the clinic on referral from their primary care physician or from a specialist. For example, an Ear, Nose, Throat (ENT) doctor might refer a patient who continues to struggle with ear infections even after having tubes put in. Or a pulmonologist might refer a patient who keeps getting lung infections.

Additionally, the Texas Department of Health and Human Services refers infants whose newborn screening indicated Severe Combined Immunodeficiency (SCID), a potentially fatal condition.

The clinic also collaborates with the Cook Children’s Genetics team to establish or rule out any congenital causes for the patient’s symptoms.

Dr. Chaimowitz studies the patient’s health history and blood samples. Oftentimes she prescribes infusions or a regular dose of oral antibiotics to prevent infection. Extreme cases of immunodeficiency might require a bone marrow transplant.

Here's how subcutaneous (under the skin) infusions can help patients:

• Immunoglobin G (IgG) protein molecules are collected from the plasma of healthy blood donors. Those IgG antibodies are used to make the infusion medications.  
• A needle injects the medication into the tissue layer between skin and muscle.
• The boost of antibodies gives patients more energy and fewer sick days. Parents worry less about exposing their immune-compromised child to germs at school or elsewhere.

“Just coming and seeing us gives them hope,” Dr. Chaimowitz said. “I hear from a lot of parents that they know in their heart there's something different about their child. I say, ‘You came to the right place. I have hundreds of patients who share your story.’”

Abigail’s Experience

Abigail Novak has a kidney disease that requires her to take an immunosuppressant drug. During her teen years, it seemed like she was always dealing with health problems … flu, sinus infections, urinary tract infections, kidney stones, an abscessed cyst. If a contagious illness was making the rounds, Abigail caught it – and it took a long time to recover. In the fall semester of her freshman year in college, her fatigue and frequent bouts with illness got worse. Even a case of sniffles would escalate.   

“A cold would turn into almost pneumonia and bronchitis,” said her mom, Kristi Novak. “Anything she got was 10 times worse than a normal kid.”

Cook Children’s nephrologist Randa Razzouk, M.D. was Abigail’s kidney doctor at the time. Dr. Razzouk sent Abigail to the Immunology Clinic, where Dr. Chaimowitz diagnosed an antibody deficiency. Abigail started on infusion therapy in January 2023. From her dorm room at Texas Tech University in Lubbock, she would insert the needle and then study or watch a movie while the medicine entered her stomach tissue.

She saw improvement after about the third or fourth week of infusions.

“After a while, I started noticing, “Wow, I haven’t been sick!’ That was a big difference.”

With more energy to devote to her classes, the biochemistry major made the President’s Honor List in the spring semester.

She continues to visit with Dr. Chaimowitz every three months or so via virtual appointments, which means no need to commute from Lubbock or her family’s home in Seymour, almost a three-hour drive from Fort Worth.

Landon’s Experience

Landon Clayton was born with cystic fibrosis (CF), which affects the lungs, digestive system and other organs. From about age 3, he began getting sick more often than typical for people with CF.

“He kept getting sick, and it was horrible,” said mom Jessica Clayton. “He would have a good one or two weeks and then it would start again.”

His parents held him out of preschool because of the constant cycle of sickness.

“It was frustrating,” Jessica said. “My child shouldn’t be this sick and be on this many antibiotics and steroids. I know other CF kids, and this is not how they live.”

Landon came to Cook Children’s in 2022 under the care of Karen Schultz, M.D., medical director of Pulmonology Services. Dr. Schultz referred him to the Immunology Clinic, where Dr. Chaimowitz made a preliminary diagnosis of antibody deficiency.

Jessica remembers feeling a sense of relief and hope.

“That appointment was probably the best I ever felt after leaving a doctor’s appointment,” she said.  

The official diagnosis came about a month later when blood tests showed that Landon had barely any immune response to a recent pneumonia vaccine. He started infusion therapy in November.

Landon does his weekly infusion at home in Wichita Falls.  His mom starts by applying a cream to numb the outside of his thigh. Then she inserts a short needle and a pump delivers the drug that boosts Landon’s antibodies. The infusion takes about 50 minutes and he plays Mario Kart with his dad to pass the time.

Needles make him anxious, but his parents award him a small prize for cooperating with the process. “Not so bad,” he reports.

Jessica points out that Landon was sick so much that he missed 20 days of school in the fall of first grade. After starting the infusions, his only absences in the spring were two days out due to routine checkups. Now he has energy for his favorite hobbies: trampolines, Mario and dinosaurs.

“He’s like, ‘Mom, I can keep up with my friends now,’” Jessica said. “He can feel the difference.”

Resources and Reassurance

The Immunology Clinic provides education to patient families in an ongoing dialogue about treatment options. Dr. Chaimowitz applies her research skills to assess each patient’s unique situation against the array of more than 450 primary immune deficiency disorders. Periodic reassessment is needed, she said, because sometimes young children grow out of the condition as their immune system matures.

Dr. Chaimowitz says it’s rewarding to take even small steps that help strengthen a child’s weak immune system.

“Immune issues can present as frequent infections, severe infections or early-onset autoimmune disease,” she said. “And that when these things happen, you should at least think about the immune system.”

But it also raises important questions that need to be addressed.

Last week after the article 12 Facts About Measles You Need To Know ran, we received questions from concerned parents of more vulnerable kids, including immune suppressed children and newborn babies.

We were able to talk to Jason Terk, M.D., a Cook Children’s pediatrician in Keller and a nationally known advocate for vaccines, to answer a few of the questions we received last week.

1. How could the measles virus impact immune suppressed individuals?

Dr. Terk: People who are immune suppressed have a higher risk for the deadlier complications of measles infection such as encephalitis and pneumonia.

2. Even if your child is up to date on their vaccinations, if they have a low immune system due to organ transplant/cancer/other health incident, how at risk are they? Is the vaccine still effective?

Dr. Terk: Each circumstance is unique so a general answer that applies to every one of them is not possible. For people who are on immune suppressing drugs following organ transplantation, risk from infection is higher because of the higher risk of complications from measles infection. People who are significantly immune suppressed cannot get the measles vaccine either because the vaccine would present a risk to them or because they would not be able to mount an effective immune response to the vaccine which would protect them from infection.

3. What are the risks and best course of action for newborns/babies that are not old enough to receive the first MMR vaccine?

Dr. Terk: The best course of action is to make sure that all persons in close contact with babies less than 6 months of age are properly vaccinated against measles and to avoid situations where larger groups of unvaccinated people are likely to be. The CDC now recommends that babies between 6-12 month who will be traveling to countries with measles outbreaks receive an MMR vaccine to provide short-term protection. This does not count toward the recommended two dose series that starts at 12 months of age. So far, the recommendation has not been extended to the circumstances that are occurring in certain parts of the US.

4. The vaccine is 97 percent effective after two doses, but is that true for someone who is immune suppressed?

Dr. Terk: No. Depending on the severity, a person who is immune suppressed may not be able to mount a good response to the measles vaccine and be protected from measles infection.

5. Could the measles virus mess up a transplanted organ in any way?

Dr. Terk: There are reports in the medical literature of rejection of transplanted organs (specifically livers) following measles infection. In addition, there have been complications of measles infection seen in stem cell transplants.

6. Some people wrote in with the claim that boosting your Vitamin A levels and watching your sugar intake will prevent and/or treat measles. What are your thoughts on this claim?

Dr. Terk: Vitamin A is a treatment given during measles infection because it is known that Vitamin A deficiency increases the risk of severe complications for measles infections. But, this treatment does not actually fight the infection itself and treatment with Vitamin A does not eliminate the risk of complications arising from measles infection.

7. Important work is being performed at the Mayo Clinic where oncologists are treating cancer with the measles. But some have used the work at Mayo and a study from the NCBI as showing that vaccines aren't the way to treat a child with measles, but instead it can be handled by diet, such as skipping sugar. Is this the case?

Dr. Terk: The use of the measles virus to target cancers is one of the exciting new things about cancer treatment these days. However, the measles viruses being used are genetically altered in such a way that they cannot cause general infection. These altered viruses are tailor-made to attack a specific individual’s cancer. I do however recommend skipping sugar as a means to fight the epidemic of obesity.

For More Information On This Topic:

• Why Your Choice Not To Vaccinate Impacts My Child Too
• Measles: How To Protect Your Child
• Measles, Mumpes and Rubella (MMR) Vaccination: What Everyone Should Know
• Frequently Asked Questions about Measles in the U.S.
• Infant Immunization FAQs
• Understanding MMR Vaccine Safety
• MMR Vaccine: What You Need to Know (VIS)