Author: Dr. Cheryl Bahar

My name is Cheryl. I am 55 years old, and I have Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC).

In March of 2014, during a regular well visit to the pediatrician, my 10-year-old daughter, Jadyn, was found to have elevated blood pressure. The doctor attributed it to “White Coat Syndrome”. Simultaneously, I was experiencing intense abdominal pain. I knew that I had multiple fibroids. Before getting pregnant with my third child, I underwent a myomectomy to remove these fibroids, but more had developed after her birth. I had planned to have a hysterectomy in June of 2014.

After a conversation with a highly observant school nurse at Jadyn’s school, she recommended that we monitor her blood pressure daily to see if it remained elevated. After a couple of weeks, with no significant changes to her blood pressure in a comfortable environment, the nurse recommended that we consult a specialist. We were advised to see a pediatric nephrologist. The nephrologist began with an ultrasound of her kidneys, marking the start of our journey. The ultrasound revealed a cystic formation on her kidneys, and an MRI was recommended. The MRI confirmed that she had a cystic tumor, and we were referred to pediatric oncology.

At this point, we found ourselves in uncharted territory. Living in New Jersey, we were fortunate to have access to several top hospitals. We visited various pediatric oncologists. Our local hospital recommended laparoscopic surgery to remove the tumor, a procedure that could have ended disastrously. The doctors at Sloan Kettering had different theories but wanted to continue running tests. They felt that eventually, she would need surgery to remove the tumor. The team at Children’s Hospital of Philadelphia (CHOP) recommended immediate radical nephrectomy. This was a frightening time for my husband and me. We believed strongly that the doctors at CHOP knew best, and scheduled surgery for the following week. Consequently, I cancelled my upcoming hysterectomy.

Jadyn underwent surgery on July 3rd, 2014. The tumor was highly cystic and contained solid matter. She was diagnosed with Renal Cell Carcinoma. After the removal of the tumor, Jadyn was monitored every three months, undergoing MRIs with contrast and PET MRIs. Given that I have two other daughters, I was concerned about their risk of developing this type of cancer. We consulted the top pediatric oncologist in Boston (at Dana Farber) for more insight. They equated Jadyn’s cancer to a lightning strike, reassuring us that our other children were not at risk of developing Renal Cell Carcinoma.

About three months after Jadyn’s diagnosis, I was rushed to the hospital with excruciating abdominal pain. I had developed an abscess in my uterus. I was told that a hysterectomy was essential. I underwent the procedure soon after, at 45 years old. Jadyn continued with a surveillance schedule at CHOP. She recovered quickly, and every clean scan brought us a step closer to remission.

During the Fall of 2015, my mother began experiencing respiratory distress. She was quickly diagnosed with uterine and lung cancer. The cancer spread throughout her body, and she passed away just two short weeks after her diagnosis. I was in shock. Overwhelmed by the sudden loss of my mother, I did not connect the dots. I had no idea that Jadyn’s and my mother’s cancers were related.

Fast forward to 2018: Jadyn continued with her surveillance, and I was dealing with some painful bumps growing on my skin. My husband urged me to seek medical help. My regular dermatologist was unavailable, but thankfully, a young and insightful dermatologist was able to see me. As he examined my skin, he asked about my medical history. I informed him about my daughter’s RCC and my mother’s sudden death from cancer. At that point, I believe, he suspected HLRCC. He performed a biopsy on one of the bumps, which came back as a leiomyoma. I was then advised to undergo genetic testing. Ultimately, I tested positive for HLRCC and immediately had my other three children tested. In hindsight, I recall my mother having a similar skin bump on her wrist.

It wasn’t surprising to discover that Jadyn had HLRCC. However, it was a shock to learn that my middle child, Shay, also had HLRCC. Thankfully, my youngest daughter, Elle, was spared. I began researching the syndrome and found that the NIH had a surveillance study. Jadyn and I were accepted into the study, but Shay was not. She became a patient in the Genetic Oncology department at CHOP, where she undergoes annual MRIs with contrast. We are grateful for their care and anxiously anticipate each visit.

Jadyn has an MRI annually and a PET scan every three years. We are deeply grateful to Dr. Linehan at the NIH who oversees our care. Jadyn is also monitored by gynecology, as she has started to develop uterine fibroids. I have numerous leiomyomas on my skin, some of which I have had removed.

In hindsight, it is easy to see what we missed. At the time Jadyn fell ill, there was no protocol for a young child with RCC. Had we known, perhaps my mother’s cancer would have been detected earlier and the outcome might have been different. I would have understood the medical challenges I was facing. I am grateful to the school nurse, who I believe played a key role in Jadyn’s survival. I also appreciate the young dermatologist who listened to my history and pieced together the puzzle. Without his insight and attentiveness, I don’t think we would have been diagnosed with HLRCC.

I strongly believe in the necessity of genetic testing for every family member once a person has been confirmed with HLRCC. My daughter was only 10 years old. The recommended age to begin surveillance is 8 years old. I believe Jadyn had her tumor before she turned 10. Living with HLRCC is a reality for our family. We go for our annual scans, and my children understand the importance of maintaining this routine throughout their lives. I am grateful that we know. Knowledge is indeed power.