My name is Jerica. I’m a mother, daughter, friend, and fighter.
So Many Possibilities…So Little Answers
My fight started back in February 2019, when my gynecologist ordered an ultrasound for some abdominal pain. I was living in fear of having cysts on my ovaries. The test came back normal and my gynecologist referred me back to my primary care physician for further testing. When I saw my primary care physician, she asked me several questions to figure out the next step. She then sent me to a gastroenterologist and from there I answered even more questions. These questions were all about what foods I eat: how often do I use the bathroom–you know all of the disgusting topics you never want to discuss. She ordered a colonoscopy to check for Chrohn’s Disease.
Time for Testing
Fast forward to the day of my colonoscopy…I am 32 and having a colonoscopy performed so needless to say I am scared. The staff made me feel super comfortable and the surgeon performing the procedure was great. When I was transported back to the procedure room, I was still conscious having been given a drug to lessen the pain. They found seven polyps and removed those and let me tell you I felt it all. In recovery, the surgeon had suggested genetic testing to see why I have these particular polyps. When I went to see the genetic counselor, she mentioned that I could have a condition called Hereditary Hemorrhagic Telangiectasia (HHT) in addition to Juvenile Polyposis Syndrome (JPS) due to a gene mutation called SMAD4 since I have all these unexplained symptoms.
The Nail Biting Begins
Testing was completed and I waited about four weeks for the results. It was a rough 4 weeks waiting for answers. The test results came back on July 18, 2019 identifying the one of the HHT genes, SMAD4, confirming all the symptoms of HHT that I had been experience but didn’t know were related. All my life, I have experienced back pain, migraines, nosebleeds, shortness of breath, tingling and numbness throughout my limbs. It was hard knowing that I have had this my whole life, and no one ever put it all together. It was important to have my parents and son tested to see if they had the gene. Those results came back negative; thank goodness. My genetic counselor transferred me to the Cleveland Clinic for comprehensive care.
Excellent Care and Answers at Cleveland Clinic
My first appointment at the Cleveland Clinic was with the great Dr. Parambil. He is a Pulmonary and Critical Care Medicine Specialist and he knows more about my disease than anyone I have seen so far. He scheduled me for my first HHT screenings, which were an Echocardiogram with the bubble test, MRI with contrast, and lastly a CT Scan with contrast. The CT was the most concerning as it showed I have a few Pulmonary Arteriovenous Malformations (AVMs) that make lungs must work harder which explains why I get short of breath when walking short distances. The best way to describe PAVM’s are that they are balls of arteries and veins entangled into one another. It just makes me be more cautious of my activities and I just must take more frequent breaks to catch my breath. I love to run 5ks so this complication hit me very hard.
In addition to the regular HHT screenings, I have to get scoped once a year to remove any polyps and prevent cancer since JPS causes the rapid growth of polyps. JPS, as I understand it, has a 60% chance of leading to cancer in my digestive system. I know that as time goes on, I will experience more complications, but I now have the right team in place to manage these complications. I have family and close friends who are always there for me. My mother has been my biggest supporter and I truly don’t know what I would do without her. I’m just living my life to the fullest because you never know what can happen. I am fortunate to have the best doctors at the Cleveland Clinic. I don’t let my diagnosis hinder me from living my life. My hope is that one day there is a cure for both my rare diseases.
To learn more about a positive SMAD4 genetic result, click here.