A boy is born with seemingly perfect health, but by 6 months of age he is behind in his developmental milestones and his family has noticed a small lump on his spine. Doctors assure the family that all is well. At 1 year of age, Zachary is still lagging behind developmentally and is seen by a neurologist. However, the doctor felt he was going to catch up by age 3, but since there was a family history of genetic disorder, he ordered some tests.
Zachary’s great-grandmother had a son who was diagnosed with a genetic disorder and died at a very young age. His parents were tested for the disorder prior to having children and assured Zachary’s mother was not a carrier of the genetic defect and that there was no risk to future children. Zachary’s own genetic tested also was negative.
By the age of 2, Zachary was in therapy, but wasn’t progressing with speech as well as he was in other areas. Upon having his hearing tested, it was learned he had conductive hearing loss and was only hearing at 20% of what a normal child should hear. He had surgery to correct the problem with fluid in his ears and saw dramatic improvements in speaking and balance. However, at age 3, his physical appearance began changing and his progress was slowing. Additionally, he had very stiff joints and limited range of motion. At 3 and 1/2 years, his family physician told the family to see a geneticist, despite normal testing.
When the Zachary and his family walked in to meet the new doctor, Dr. Benke asked, “What to you so long to get here?” Immediately, the doctor had his suspicions and after an eye exam was “97% sure” of a diagnosis, but ordered a special lab test to confirm it. Only one lab in the country performs such a test and it took over 5 weeks for the family to get the results. Dr. Benke called Zachary’s mother and informed her that her son does in fact have Hunter Syndrome. When asked about the prognosis, the family was told that Zachary could live anywhere from 7 years to 75 years.
The family history of genetic disorder played a key role in this case. However, Dr. Benke believes the family member thought to have died from a genetic disorder was actually misdiagnosed with Hurler Syndrome when the child actually had Hunter Syndrome. The two disorders are very similar in presentation. The hallmark difference mentioned being only haziness of the cornea. In short, the family had been tested for the wrong disorder.
Shortly after Zachary’s diagnosis, a new treatment for Hunter’s syndrome became available and he has shown some improvement. Although there is no cure, Zachary’s family is determined that their son will live to be 75.
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Danielle was 22 years old when her illness stuck. Out of the blue, she began vomiting after eating a meal and it didn’t stop. After the contents of her stomach had emptied, she was vomiting a greenish, foamy substance. She vomited about 20 times in one night and, assuming it was food poisoning, waited to see her regular doctor the next day. She was sent to the emergency room where she was tested for gallstones. When the tests were negative, the hospital sent her home with medications to prevent vomiting. As soon as the meds wore off, she was vomiting again. She went to the emergency room again where she was given the meds through IV and, once again, the vomiting stopped and Danielle was sent home, only to return when the medications wore off. The vicious cycle repeated itself for about three weeks.
Finally, Danielle undewent a colonoscopy, but it was normal. Her primary care physician then recommended a special scan of her gallbladder and discovered her organ was only functioning at 16%, where 35% was the lowest norm. She diagnosed with cholecystitis and scheduled Danielle for gallbladder removal. After surgery, Danielle did improve and after a brief stay in the hospital, returned home. Within a day or so of being home, the vomiting returned.
As Danielle’s pain had moved lower into her right side, doctor’s suspected an inflamed appendix and Danielle underwent and appendectomy. Again, she showed immediate improvement, but within days, the vomiting AGAIN returned. The hospital gave Danielle a pic line to provide nourishment to her now starving body, but when all lab results came back normal, medical thinking was redirected. Now, doctors felt the problem was in Danielle’s head. She was sent for a psychological evaluation and when that was normal, the hospital turned her away, saying there was nothing else they could do.
Now going on 8 weeks of this cycle, Danielle’s family drove to Yale University Hospital for help. There, they met Dr. Pria Jamydar who had another test in mind for Danielle… an ERCP. The test revealed a structural problem in Danielle’s digestive system known as a Sphincter of Oddi Dysfunction. Danielle underwent yet another surgery to correct the problem and finally, after weeks of misery and wishing for death, Danielle had a full recovery.
*Note… I missed the episode name for this one. Please leave me a comment if you have that info.
