A's Story

Our daughter's (will call her "A") story:

Our experience with A's HFI has led us to write this in the hope that others can benefit from our experiences. For example, one might expect that the word hereditary in HFI implies that the symptoms might be evident from birth. Although this may be the case for some, A's symptoms did not manifest in earnest until puberty. Although it may or may not be related to her condition, A cried a lot as an infant. Although colic is a catchall phrase for a baby that cries an unusual amount, her crying stood out as unusual because it lasted from mid-afternoon until well after midnight every day of the week for about five months. Nothing could comfort her so we took turns just holding her. Her pediatrician had the parents diagnosed as overwrought (which we were after months without a full night’s sleep) and did not take the complaint seriously. After her crying slowly reduced to more manageable levels she developed normally (although her crying as a young infant gave her rock hard abdominal muscles) and was a delightful child, although in her earlier years she still cried a lot more than other children her age. We now wonder if all of this crying might have been an early HFI clue, since irritability is a possible symptom of HFI.

The only other possibly related characteristic is that A has loose joints. After puberty she could easily bend her thumb to touch her wrist. Competitive swimming in grade school, junior high school, and high school took their toll on her loose joints. She had to have surgery on one shoulder to tighten her rotator cuff. The opposite shoulder is also loose, but she wants to avoid surgery on that shoulder as long as possible. She has also had major surgery on her jaws for TMJ as her jaws kept dislocating because of the loose ligaments.

It was during competitive swimming in the 9th grade that the first symptoms of HFI started to seriously manifest. At first the symptoms were those of low blood sugar. She actually blacked out briefly in the pool while swimming the 200 yd individual medley. Being a tough kid, she recovered enough to finish the race before the last finisher for that heat, but had to drop out of the meet after that effort. At the time, we knew that she was having more nutritional difficulties and started experimenting with different foods to address the low blood sugar. As it turns out, most of these experiments made matters worse because the obvious way to address low blood sugar is to ingest high carbohydrate foods, and being a swimmer, she needed the carbohydrates. Unfortunately, many of these foods made her feel much worse. Soon, she rapidly began feeling sick all of the time with frequent nausea, headaches, weakness, and shaking. She would wake up in the middle of the night vomiting. She did start to notice that sweet foods and fruits made her very sick, so she started avoiding these foods.

Another trip to the pediatrician, unfortunately, not the one who knew her, ran tests, but was unable to come up with a diagnosis. He decided it was acid reflux and gave her one of the well known antiacid pills. These made her even more ill and she stopped taking them within days. (Always carefully review medicine labels, both prescription and over the counter for added sugars. They almost all have them, even vitamins) We soon began to doctor shop to find one who could provide a definitive diagnosis. At this point, we were very concerned because she looked and felt ill all the time, was losing weight that she did not need to lose, (remember she was an athlete), had dark circles under eyes and had no energy. She was still trying to keep up with classes in her junior year in high school, many of them AP classes, and applying to colleges.

She saw multiple specialists in internal medicine, nutrition, endocrinology, and digestive disorders. One endocrinologist suggested that she might have Glycogen Storage Disease (GSD), an inherited disease with a least nine identified variations, most of which are very scary for a parent to contemplate. All of these variations result from genetic enzyme defects that prevent the body from properly utilizing carbohydrates. Ingesting carbohydrates causes these sufferers to accumulate byproducts and eventually cause liver or kidney failure. Although this tentative diagnosis was not ultimately correct, it did place us on the path of avoiding dietary carbohydrates as much as possible. A reduced carbohydrate diet did seem to start to have a positive effect. At a subsequent visit to this doctor, he abruptly dropped her as a patient stating that he could no longer help her and denied ever suggesting GSD as a possible diagnosis. We were stunned by this development, which we later learned was related to him being sued for malpractice. We were again back to square one for getting her condition addressed. All laboratory tests except for low blood sugar consistently came back negative.

It was apparent that we needed to look elsewhere for help. Our family physician, whom we had started with after the acid reflux diagnosis, was very supportive and helpful. He was amenable to assisting in getting A to a specialist in another city after the many failures in the local medical community. I tried to get her into an endocrinologist at Primary Children's in Salt Lake City, which ultimately did not happen. As a Registered Nurse who graduated from nursing school in Seattle, I went to one of my friends who still lives and works in Seattle for help. She gave me the names of several specialists with whom she has worked and respects. I called Children's Hospital and began a process that was again very frustrating. They have a wonderful team approach where they take a health history, request medical records and have various medical specialists, social workers, dietitians, and nurses review each case. They then decide if they will accept the patient and which medical specialist is appropriate. The call we received was not the one we wanted. They refused to take our daughter as a patient. We were devastated. A's health was declining and no one could figure out what was wrong. At this point, it was Christmas time and our older daughter was home from college. She hadn't seen her sister since August and was shocked at the change in her. She took me aside, and with tears in her eyes, asked if her sister was dying. That scared me even more. I called the RN at Seattle Children's again and begged her to have the team reconsider their decision, reiterated the seriousness of A's health and articulated that we were watching our daughter die before our eyes.

Why am I telling you this? Because you must know that if your loved one is so seriously ill and no one seems to take you seriously, you absolutely must be his/her advocate and keep trying to find someone who will listen. Luckily, they finally did reconsider and we were given an appointment with a gastroenterologist at Seattle Children's Hospital. We took her there for several days of testing. Among the tests done was a fructose tolerance test which is used to diagnose FI (but not normally HFI). The way that the test works is that bacteria that metabolize undigested fructose produce byproducts that include gaseous hydrogen. This hydrogen is then detected with a breath analyzer. The patient is made to drink high concentrations of fructose and the breath is then frequently analyzed for the presence of excess hydrogen. A’s test was stopped after the very first breath test because it was very positive for the presence of hydrogen. The fructose she had to drink for this test made her very ill for several days. At last we had a positive test result, although her symptoms did not match those of simple FI. Other tests need to be done to definitively diagnose HFI, which are DNA testing (currently have 70% - 85% detection rates), and liver biopsy testing ,which is the definitive diagnostic test. At this point the doctor felt confident enough to make the diagnosis without an extremely invasive liver biopsy. At last we had the disease diagnosed as FI. We were then sent to a dietitian for teaching regarding acceptable and unacceptable foods in a FI person. We left Seattle with a new sense of hope that our daughter would soon be on her way to recovery of her health

The lesson that we learned from this experience is that most doctors either lack the knowledge or are not willing to spend the time to diagnose difficult conditions. As a result shopping for the right doctor is critical. We had a diagnosis in less than a week, but it took three years to get there!

The treatment for HFI was to avoid all fructose containing foods, which was easier said than done. By the time that this was diagnosed, A was well into her senior year of high school, had undergone shoulder surgery during Christmas break the year before (another story with meds and foods) and was contemplating attending college across the country the following year. How do you allow your daughter with such drastic food restrictions to go across the country to college?! We had no idea how difficult it was going to be getting her healthy and finding foods that she could eat.

For several years we had probably taxed the capabilities of Google trying to find out all possible diseases that could explain A’s symptoms. Now we burned up the internet trying to find foods that A could safely eat. Learning to read labels is an absolute requirement in buying foods for an HFI diet.