At 20 weeks into her pregnancy, Valerie, Alena’s mom, received concerning news during a routine ultrasound: the long bones in Alena’s body weren’t measuring as they should. This unexpected finding led to a series of discussions with medical professionals. Two months after Alena’s birth, the diagnosis of Femoral Hypoplasia with Unusual Facies Syndrome (FHUFS) was confirmed. This rare genetic disorder is characterized by underdeveloped femurs, growth restrictions, and distinctive facial features. Alena’s journey with this syndrome has been a complex one, involving a variety of adaptive tools and treatments. “I use a walker, wheelchair, crutches, leg braces, and have a lift in my left shoe,” Alena explains.
In an effort to address her growing needs, Alena and her family sought out orthopedic expertise. Alena’s case was referred to Dr. Shawn Standard, a specialist in pediatric orthopedics, who was based in Baltimore at the time. “We started receiving treatment from Dr. Standard when I was 4 years old,” Alena shares.
When they learned that Dr. Standard was moving to Nemours Children’s Hospital, Florida, the decision to follow him was almost immediate. “We had a choice to stay with another doctor in Baltimore or to follow Dr. Standard to Nemours,” Valerie explains. “We chose to follow Dr. Standard. He is amazing and we trust him completely!”
Now 15, Alena has undergone several complex and critical procedures under Dr. Standard’s care. These include bilateral hip and femur reconstruction, the placement of spica casts, the insertion of eight plates, and the use of ankle pins. Most recently, Alena’s journey with Dr. Standard included a procedure to have an external fixator placed on her right hip, a device that would gradually stretch her hip flexors over a 12-week period. Each of these procedures has been a significant step in Alena’s treatment plan, and the expertise and precision of the medical team have been crucial to her progress.
Valerie recalls their first visit to Nemours Children’s in January, where they were immediately impressed by the courteous and helpful staff. “The hospital was very nice, and everyone we encountered was friendly and supportive,” she says. “Our favorite experience was after surgery with the in-patient rehab staff on the 5th floor. They were engaging and always encouraged Alena to join the rest of the kids in activities.”
The staff’s commitment to patient care extends beyond the operating room and hospital stays. “We’ve been at Nemours almost six months, and the staff always takes the time to answer our questions or provide the care we need,” Valerie explains. Whether it’s a quick message to Dr. Standard’s team or reaching out for after-hours emergencies, the family has always received prompt and thoughtful responses. “We of course always enjoy meeting with Dr. Standard and his staff. He always puts our fears at ease and takes time to answer all our questions. We can’t recommend him enough for quality orthopedic pediatric care. He truly cares for the patients and their family.”
After her final surgery with Dr. Standard on November 11, Alena’s immediate focus will be on recovery and rehabilitation. Valerie shared, “Following our post-op appointment, we will be heading back home, where Alena will begin a rigorous physical therapy regimen. She will attend PT sessions three times a week, all tailored to her specific needs. We will be working on strengthening and walking properly with and without devices at Alena’s comfort level.” Valerie offers valuable advice to other parents navigating similar challenges. She emphasizes, “Have faith in Dr. Standard but make sure to ask any questions you have.” Valerie also stresses the need to research and advocate for one’s child, sharing, “Advocate for your child; you know them best! Research, research, research and always ask questions; the worse they can say is no.” Additionally, she highlights the significance of community support, suggesting that parents “reach out for advice to those going through the same things,” as “no one else will understand who isn’t going through what you and your child have been through except other families experiencing the same.” By staying informed, advocating, and building a support network, parents can ensure that their children receive the best possible care.
