THE STORY OF LITTLE JADZIA – CONGENITAL FEMORAL DEFICIENCY/PROXIMAL FEMORAL FOCAL DEFICIENCY (CFD/PFFD)
Jadzia was born with a rare defect of the skeletal system – a congenital femoral deficiency (CFD; also called a proximal femoral focal deficiency – PFFD). Just after birth, she was considered a completely healthy baby. After 2 weeks from returning home, the parents noticed that one of the girl’s knees is higher than the other. The next day in the morning, she underwent her first ultrasound. Physicians started informing about abnormalities. “Didn’t you know you have a cripple?”, one of them said. And then, added “it’s just a leg, fortunately the brain is healthy”. Having this in mind, the parents went to Poznań, where the diagnosis was confirmed and the treatment planned that included the hip and knee surgeries until the age of 2; Jadzia was entered on the waiting list.
This was not what they had expected. Waiting lines, hours spent in waiting rooms, uncertainty and the language they didn’t understand at all at that time… Hours spent on searching the Internet for hope – other children with a similar defect, who can handle it and live their full lives – finally brought them to Dr. Dror Paley. Their meeting in Poland resolved all doubts. During the consultation, Jadzia’s parents got to know the entire treatment plan, possible management scenarios and the results based on cases of other patients, as well as the personnel that offered to help at each stage. After 2 weeks, they knew the plan for the next years. As they were given hope, they gained strength for fundraising. They started to believe that Jadzia will stand on equally long legs.
At the age of 3 years, Jadzia underwent the first surgery at the Clinic in Florida, during which the hip was reconstructed, the cruciate ligament was transplanted and the fibula was undercut. After 5 weeks with a plaster cast, the girl could come back to Poland.
The next, second surgery was performed in January 2020. Dr. Paley assisted by Dr. Deszczyński performed the surgery during which a growing rod was implanted. This was one of the first surgeries performed in such young patients. 4 months later, Jadzia came back to Poland, where she is undergoing intensive rehabilitation under the supervision of the Polish team at Paley European Institute.
The exercise plan involves the increase in the leg mobility and restoration of the correct gait. Everything is on the right track. The bone is slowly calcifying and weight-bearing on the leg may be increasingly intensified. Jadzia does not have to sleep wearing the orthosis anymore, and the difference between extremities is only 2 cm, not 8 cm.
Meetings with physiotherapists are the time of overcoming barriers, learning the reactions of her body and adaptation to the new situation. 6 cm of a new leg require activation of the brain, which – until now – has learned not to weight-bear it, and now is developing new reactions. Thanks to continuous cooperation of physiotherapists with the treating physician, the team can react to any changes more effectively. Sometimes even a typical fall may turn out to be a serious danger. Building the feeling of security in sort of a new body requires some work – not only physical, but also mental. Apart from an interesting exercise plan, which sometimes can be co-created by patients together with physiotherapists, it is also important to communicate in a language that is understandable for the patient.
Not without reason Jadzia treats the rehabilitation room as a playground, where – in cooperation with physiotherapists – she can build her obstacle course, for example. We are proud to watch her placing more demanding elements on her route.
The questions that emerged after the surgery included Jadzia’s parents concerns about whether rehabilitation would not spoil the surgery effect, and that’s why they have chosen the Paley team to continue the treatment process.
Today, Jadzia is only 4.5 years old and has already undergone 2 surgeries. The trip to Florida and acquainting with new friends from all over the world made her interested in travelling. She would like to discover other corners of the world on equally long legs. Moreover, she dreams of becoming a ballerina. You can watch her first lesson in the video.