Hereditary Hemorrhagic Telangiectasia: Rhemy and Rhaven's Story
Patient Story Highlights
- In 1998, All Children's Hospital opens an outpatient care facility in Lakeland, providing cutting-edge medical care to local families.
- Raquel, the mother of Rhemy and Rhaven, was once a young girl with a rare genetic condition called Hereditary Hemorrhagic Telangiectasia (HHT) receiving care from a specialized team at the facility.
- Over 20 years later, Raquel's daughters, also diagnosed with HHT, receive care at the same location.
- The family forms strong relationships with the medical staff, building trust and ensuring their daughters' needs are met for daily life and school success.
The year is 1998. Scrunchies, overalls and jelly shoes abound. Though youth fashion trends may be questionable, there is no question on where to get the best health care for kids. Fortunately for families in the Lakeland area, All Children’s Hospital has just opened the doors to an outpatient care facility bringing the latest in medical innovation closer to home.
As a young girl with a rare genetic condition, Raquel needed a team of specialists to help her manage the condition. Her father placed trust in the hospital and this new facility was a part of the solution.
In the past 20 years, trends have come and gone. What has not changed is families are still depending on Johns Hopkins All Children’s Outpatient Care, Lakeland, to provide exceptional care at a location close by. The location will hold a public celebration of its 20th anniversary on Oct. 9 at 3310 Lakeland Hills Blvd.
Today, Raquel has daughters of her own–6-year-old Rhemy and 8-month-old Rhaven. They share the same genetic condition and manage it with the help of a specialized care team at the same location.
Rhemy and Rhaven are just starting their journey with Johns Hopkins All Children’s. Their team will watch them carefully as they grow and progress through school, helping the girls learn the ins and outs of living with HTT along the way.
Hereditary hemorrhagic telangiectasia (HHT) is also known as Osler–Weber–Rendu syndrome. Sir William Osler, one of the founding professors at The Johns Hopkins Hospital, contributed to its discovery. It is an autosomal dominant genetic disorder. Though the disorder itself is rare, there is a 50 percent chance a parent with the trait will pass it on to each child. People with this condition can have abnormal blood vessel formation in the skin and in organs such as the lungs, liver and brain. Malformation of veins and arteries caused by HHT can only be diagnosed through routine screening.
"The staff there watched me grow up and now they are getting to watch my kids grow up. When we have an appointment, it is like visiting family."Raquel
Such complex medical needs mean frequent check-ups with a multitude of specialists working together to establish a care plan.
“It is essential for my daughters to be constantly monitored by Dr. Ayala and the hematology team,” Raquel explains. “This genetic disorder can cause life-threatening bleeding in the organs, making Johns Hopkins All Children’s very important in our lives.”
Along with hematology, Rhemy works with Randall, an audiologist, for a hearing impairment and every few months there are trips to the main campus in St. Petersburg to monitor a recently discovered vein malformation in her brain with Carey, a neurosurgeon. The family also sees specialists in genetic counseling and routine imaging scans are a part of managing the condition. Accomplishing many of these frequent visits close to home is a valuable thing for a busy family.
The frequent visits do more than just check for complications. They build a relationship and trust between family and staff. It’s a trust that has been proven time and again.
Raquel knows that when she brings her daughters for an appointment it’s more than a check-up–it’s a team effort to ensure the girls have every need met for success in day-to-day life and school.
“The staff there watched me grow up and now they are getting to watch my kids grow up. When we have an appointment, it is like visiting family.”