The Mom Chronicles: Mystery Diagnosis

Meet the Berenger family – Greg, Susan and daughter Ashley.

When Greg & Susan had Ashley, she immediately started having health problems. After they took her home from the hospital, they would feed her a bottle and it just appeared as if she couldn’t breathe and drink her bottle at the same time. They brought her into the doctor and she was immediately hospitalized for severe apnea (stopped breathing) and reflux. She actually stopped breathing 60 times in 12 hours! Greg & Susan were so thankful that they got her in. The doctors acknowledged the severity of her apnea, but reassured us that this will be something she will outgrow. In the meantime, she had to be on an apnea monitor for her first year of life. Unfortunately, her apneic episodes and reflux impacted her growth and she had been diagnosed with failure to thrive. One doctor even told them that these babies “don’t typically survive.” They were amazed at the comment, but pressed forward diligently. The reflux and failure to thrive was somewhat relieved by switching to a formula that was easier on her tummy. She gained weight and we just figured we’d have a smaller child. Both the apnea and reflux were pretty much resolved and they went on with our lives.

Flash forward to toddlerhood and Ashley began having chronic respiratory infections. These were not just any typical respiratory infection – they would last 3 weeks long, require intense breathing treatments and they were, at times, back to back. Susan just remembers that time as “survival mode”. Both Greg & Steve suspected that something wasn’t right. But their pediatrician just kept sending them home with medications and assured them that this is also something she will outgrow. Susan recalls some of the things other people would say to her during this time like, “Why don’t you just let Ashley just wear out her illness instead of always putting her on that medication?” Or, “If you just put this “special salve” on her feet and then cover it with socks, she won’t get sick anymore.” Others obviously didn’t understand the severity of Ashley’s respiratory illness!

Finally, when Ashley was 4 years old, she was referred to an allergist where they started investigating. She started receiving allergy shots, but unfortunately, they were never able to get to the maintenance level before she would get sick again.

Diagnosis At Last
Susan was exhausted and ready to get some answers. Her local allergist in their small town ran more tests and a major diagnosis was discovered. Ashley had Common Variable Immune Deficiency, or CVID. CVID is a disorder characterized by low levels of serum immunoglobulins (antibodies) and an increased susceptibility to infections. The exact cause of the low levels of serum immunoglobulins is usually not known. As scary as the diagnosis was at first, at least they could look back and see a common theme and see the connection. Now, Ashley goes to Dr. Richard Wasserman in Dallas – even though the drive is several hours from their small Texas town – Susan believes he is one of the best pediatric immunologists in the area.

Last year, Dr. Wasserman ran some more tests because it appeared that her illnesses continued to get closer and closer together despite managing her asthma and allergies. The tests revealed that her immune system needed help so they began monthly gamma globulin infusions to provide Ashley’s body with the antibodies needed to fend off illness. Although she has been out over 29 days of school for her infusions, no major illnesses have occurred since starting this treatment.

Dietitian Assistance
Ashley was now 12 years old and was still having trouble with weight gain and very low energy. The Berenger’s were referred to a pediatric dietitian, although Susan was not sure what the dietitian could do more than what she had already been doing. To their surprise, targeted food therapy allowed her to double her calories! Some supplements are available for retail sale, but what Susan learned is that dietitians have access to many different types of caloric substances that the public does not and they know how to use them in targeted ways. Within a couple weeks of the high calorie prescription, Ashley was a different person. At her tennis lessons, she used to only have enough energy for half a lesson and she got so tired that Susan had to hold her racquet. One day not long after food therapy started, her tennis coach saw a different girl. She was running around the court – completed her lesson – and was even joking and carrying on with him! Ashley has been making excellent strides in both weight and height since seeing a dietitian.  The hope is that she can have significant catch-up growth as she continues on this food therapy.

Greg and Susan recommend the Immune Deficiency Foundation for reliable information on any suspected or diagnosed immune disorders (be careful to self-diagnose, always refer back to your physician or physician specialist). As for her, she does not prefer community forums because many times she would see horrible cases that made her worry more. She needed to stay positive for Ashley’s sake. What does help her is that she uses an 8 ½ x 11 planner and tracks Ashley’s trends – illnesses, food intake and even weather changes. This really helps her identify problems before they begin.

Susan learned 2 major lessons along the way. Listen to your gut instincts. She knew something was not right with her little girl and she wished she had demanded further investigations sooner (even though surprisingly, only about 20% patients are diagnosed before age 16). And she wished she had dietitian guidance sooner so Ashley could have grown more aggressively despite her illnesses. She wonders now how her lack of nutrition played a role in the frequency of her illnesses.

If you suspect that you or your child has an immune disorder, talk it over with your doctor, or even seek the advice of an immunologist for further testing.
To find a Registered Dietitian in your area that specializes in your or your family’s nutrition needs, go to the American Dietetic Association’s Find a Registered Dietitian link on the top right of the main page.

Names were altered for privacy.

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To all my families that graciously gave of their time to participate in The Mom Chronicles, thank you! We hope that by reading these posts that at least one family dealing with a chronic illness is helped and/or encouraged to demand good medical care, reach out for community support (reputable forums as listed, family/friends and/or faith-based organizations) and seek the guidance of a Registered Dietitian. If you are blessed to have children with good health, may these posts serve as a reminder of how fortunate you are. This post completes our series on The Mom Chronicles.

The Mom Chronicles: VACTERL Syndrome

Here we are with our second installment of The Mom Chronicles.  The format going forward will be a bit different with it being told as a story after interviewing the family versus question and answer format in the first post.  The next couple stories are a powerful account of how the dietetic profession can have such a positive impact on health and it makes me proud of what we do.  Some people think of dietitians as weight management experts, but clinical nutrition is an area that directly shows the influence of food therapy on the body's growth as well as its recovery and management of disease.  Even though the Mommy Dietitian Blog primarily discusses wellness, it happens to be my favorite line of work.

Meet the Duncan family – Jessica, Bill and daughter Ronda.

Jessica and Bill were a newly married couple that had children in their future. As life would have it like many other couples, they unexpectedly got pregnant anyway despite being on birth control. Throughout her 9 months of pregnancy, the couple was told that they were having a healthy baby. But at delivery, they discovered that their precious baby had a rare disorder called VACTERL Syndrome or VACTERL Association. “VACTERL” is an acronym that lists the congenital anomalies that these children can have – most children born with this syndrome have three or more. In their baby, Ronda’s case, that was the case. She had congenital heart defects, her esophagus was unattached to her stomach and she had limb and shoulder disfiguration. Ronda went through dozens of surgeries and was not even fed by mouth until she was 5 months of age. Jessica was extremely thankful that when she was fed, she took the bottle very easily instead of having trouble accepting something in her mouth (which is often the case in late oral feeding). Ronda had clinical failure to thrive from the beginning and it was a constant struggle to keep weight on her.

Jessica says that the one thing that she wishes she had back then was a referral to a Registered Dietitian (RD). Her growth had failed so badly that now she is on growth hormone to assist catch-up growth. You see, Ronda is now 13 years old and was just referred to an RD by her gastroenterologist who regularly refers patients for nutrition guidance. Now that Ronda is being followed by a pediatric dietitian, she is catching up on growth. And more immediate, Jessica saw an obvious change in Ronda’s energy and stamina followed by strength. Ronda’s lingering health issue is mainly her esophageal atresia, which causes a continual narrowing of the esophagus. She needs to get her esophagus dilated every 4 weeks and as that date gets closer each time, Ronda’s ability to swallow certain food items diminish due to the diameter of the opening. For this reason, she is fed at night with a feeding tube. However, their issue was that they were giving her the maximum that her body could take at night and she was still not gaining weight appropriately. The dietitian helped in switching to a formula more dense in calories to double calories in the time infused and she also coached them on maximizing oral calories with special attention to food textures. The ultimate goal is to maximize catch-up growth, wean Ronda off the tube feedings and get her eating 100% by mouth so she can feel like a normal teenager. They now feel like they’re well on their way to achieving these goals. Their challenges are by no means over, but Ronda and her family is seeing life down the road easier to manage. 

What resources would you recommend for any family that has a child with similar issues?

The Vater Connection: a community forum of families that have children born with VACTERL Syndrome. (previously named VATER Syndrome, but later congenital anomalies added to lengthen the acronym)

EA/TEF Child & Family Support Connection: was formed by and for families of children born with (Esophageal Atresia and Tracheoesophageal Fistula) EA/TEF and the medical professionals who treat them dedicated in providing educational resources as well as emotional and practical support to aid in the daily care of our medically fragile children.

To find a Registered Dietitian in your area that specializes in your or your family’s nutrition needs, go to the American Dietetic Association’s Find a Registered Dietitian link on the top right of the main page.

Family names were altered for privacy.