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Success Stories
MyConsult Program Leads to Correct Diagnosis for Pediatric Patient in Puerto Rico

Two years ago, Sergio de la Cruz was a typical, active nine-year-old boy who enjoyed going to school and spent time playing outside with friends. He was happy, and most importantly of all, he was healthy.


One day, when Sergio started complaining of mild shoulder pain, his parents were not overly concerned.


“My wife and I looked at his shoulder and it seemed fine,” explained Sergio’s father, Ramon de la Cruz. “As a nine-year-old boy, bumps and bruises from the playground were fairly common for him.”


Two weeks later, Sergio was still complaining of pain. Ramon and his wife, Marylen, who live in Puerto Rico with their two sons, decided it was time to pay a visit to the pediatrician.


X-rays showed that Sergio’s shoulder was not injured, but blood work ordered by his physician showed that his erythrocyte sedimentation rate (ESR) was elevated, a symptom of inflammation that could be caused by a number of conditions. It was a finding that would require further investigation by a rheumatologist. At the time, the de la Cruz family didn’t realize that it would be the beginning of a long, painful journey for nine-year-old Sergio; a journey that would require frequent trips to the hospital for an array of tests and procedures.


“Sergio was very strong,” Ramon said of his son. “But he was sad that he had to miss so much school and he was very scared every time he had to have blood drawn. The whole time I kept wondering how a little shoulder pain could spiral into this.”


Within a few months, Sergio’s rheumatologist had reached a diagnosis that broke the hearts of both Ramon and Marylen: Wegener’s granulomatosis.


Wegener’s is a very rare and incurable form of vasculitis that typically affects blood vessels in the nose, lungs and kidneys. In most cases, the disease causes severe, life-threatening damage to these organs. Wegener’s patients require lifelong immunosuppressant treatment, which can ultimately be toxic in and of itself.


“I’m an engineer. It is my nature to seek information and want facts,” Ramon said. “I immediately started researching Wegener’s online. I was deeply saddened by the diagnosis, and the more I read, the more I realized that something just was not adding up. To me, Sergio didn’t seem to have most of the symptoms associated with Wegener’s.”


Though Ramon and his wife felt that the diagnosis might be incorrect, due to the severity of Wegener’s, Sergio’s rheumatologist wanted him to begin steroid therapy immediately. She advised the de la Cruz family that they did not have time to waste.


Over the course of the next year, Sergio underwent aggressive steroid treatment and continued to undergo many tests including a CT scan of his chest to look for granulomatous lesions on his lungs, a sign of active Wegener’s. He was also referred to a pediatric ear, nose and throat specialist for a biopsy of the nose.


The reactions Ramon and his wife received from both the radiologist who analyzed Sergio’s CT scan and the ENT were alarming. Based on their individual assessments of Sergio’s condition, both clinicians disagreed with the rheumatologist’s diagnosis of Wegener’s. Ramon and his wife were left feeling confused and helpless.


“By this time, Sergio was not doing well,” Ramon said. “Many months of steroid treatment had taken a toll on his mind and his body. He was agitated and irritable. He woke in a panic during the night. He gained several pounds and his clothing no longer fit. He felt sad and insecure and eventually started to lose interest in the things he had loved before. It hurt my wife and I so much to see him like that.”


Ramon knew he had to take drastic measures to fight for his son, who was too young to fight for himself. Ramon once again turned to the Internet where he found support in an online forum for Wegener’s patients and their family members.


In the online forum, other patients encouraged Ramon to seek a second opinion for his son. Ramon learned that many of these patients had sought expert medical opinions using the Internet. He was pleased at the thought of receiving a second medical opinion without having to leave Puerto Rico and immediately began researching further.


Ramon came across a handful of online medical second opinion programs offered by well-respected healthcare institutions in the United States, but to Ramon, one program stood out from the rest.

The MyConsult® Online Medical Second Opinion program is a sophisticated, Web-based extension of Cleveland Clinic's 90-plus-year role as one of America's respected referral institutions. The secure, online program provides medical second opinions from Cleveland Clinic specialists for more than 1,200 diagnoses that may impact your quality of life or may be more serious.

“I read the biographies of the physicians at Cleveland Clinic online and was very impressed,” Ramon said. “I knew they would be the right experts to review my son’s case.”


After some consideration, Ramon began the MyConsult process on behalf of Sergio. He gathered his son’s medical records and test results and sent them to Cleveland Clinic to be analyzed by Andrew Zeft, MD, a pediatric rheumatologist.


After his review, Dr. Zeft was in contact with Ramon regarding Sergio’s rare diagnosis.


“Dr. Zeft told me that based on Sergio’s history and medical records, which he had also shared with a team of his peers, he believed the diagnosis of Wegener’s granulomatosis to be incorrect,” Ramon said. “Hearing that directly from him was such a relief to me. I knew there was hope for my son.”


Dr. Zeft expressed that Sergio may have an inflammatory bowel disease such as ulcerative colitis or Crohn’s disease, which was surprising to Ramon because both of these disorders typically result in gastrointestinal symptoms for most patients. However, Dr. Zeft explained that because ulcerative colitis and Crohn’s are inflammatory conditions, pain, including shoulder pain like Sergio’s, can be a more uncommon symptom. He encouraged the de la Cruz family to find a pediatric gastroenterologist in Puerto Rico.


Around the time that Ramon and his family received Dr. Zeft’s MyConsult report, they were becoming increasingly desperate to find the right care for Sergio as his liver enzyme count was growing higher.


As recommended by Dr. Zeft, Ramon made an appointment for Sergio with a pediatric gastroenterologist. After what would ultimately be Sergio’s final series of tests, the specialist agreed with Dr. Zeft’s findings and gave Sergio a new diagnosis: a mild case of Crohn’s disease.


“I couldn’t even express my joy at that moment,” Ramon said. “My son was initially given a life-threatening diagnosis. This new, correct diagnosis was going to be much more manageable. I knew my son would be able to live a long, happy life.”


Ramon said Sergio’s new pediatric gastroenterologist slowly weaned him off the steroid treatment and started him on a short-term methotrexate regimen in the hopes of pushing his Crohn’s disease into remission for good.


Almost immediately, Sergio was feeling better. Ramon said he went back to school and has lost much of the weight that he put on as a result of his extended steroid treatment. He said it is obvious that Sergio feels like himself once again; a happy, playful child.


“I cannot thank Dr. Zeft, the MyConsult team, and everyone at Cleveland Clinic enough for their expertise and dedication to my son and my family,” Ramon said. “I’m spreading the word about the program’s benefits because it has the potential to help so many people. I only wish I had found it sooner.”