This is the story of Zoë Theodora Ferranti. Zoë was born on June 1, 1995 to Stephen And Irene Ferranti.
We, Stephen and Irene, will present the the details of our experiences with her condition called Proximal Femoral Focal Deficiency or PFFD.
The idea behind this is to help other families that have children with this and similar conditions.
Birth
Zoë was presented in a breech position and Irene had to have an emergency C-Section. When the pediatrician took her over to clean her up and perform the tests, she motioned for me to come over. I looked down and saw the most beautiful girl in the world. My bubble was immediately burst when she said “I think she has a problem”.
She pointed to her left leg and said “It appears to be broken”. I almost fainted. My wife immediately asked what was wrong but I lied and said nothing is wrong, they have to run some tests.
While they were closing Irene up, the Doctor suggested we do a series of X-Rays to see what the problem was. I wheeled the Plexiglas cradle down the hall to the X-Ray room. The X-Rays where completed in a few minutes and I headed back to the recovery room to see Irene.
I told Irene what was happening and we held each other in shock. We decided not to tell anyone, not even our parent who were on the way to the hospital to see their new Angel.
A specialist came to the hospital later that day. He said that it looked like Zoë left leg had been broken or that there was a tumor in the femur. This news did not go over well. He told us that there was a pediatric specialist in the area and that he will set up an appointment for the next day when were to be discharged from the hospital.
We left the hospital and went right to the specialist. This doctor reviewed the X-Rays while we sat in chairs and Zoë was in the infant carrier on the exam table. He took some measurements on the X-Rays and without looking at us announced “Your daughter has a rare condition called PFFD or Proximal Femoral Focal Deficiency, We will have to amputate the left leg”.
The blood exited my body and I had to catch Irene before she hit the floor.
He then looked at us and said “It is better to amputate before she gets to old, usually before 2 years old, but I would be worried about this bone mass near the navel” and proceeds to circle the area in reference. A nurse walks in to ask him something and he excuses himself. We are hysterical. The nurse escorts us out and we drive to the pediatricians office. We tell her what the doctor said and she pulls out the X-Ray and says “Who the hell is this ‘EXPERT'”, The ‘bone mass’ he was referring to was the plastic belly button clip that the hospital used to seal the belly button!
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X-Ray. The area to the Left is where the femur is noticeably shorter and has a pronounced bend. Her knee, the space between the bend and the next white area, is almost even with her bottom. |
We planned a big dinner with our parents on the first night home and told them what was going on. It was very emotional but it proved to us how lucky we are to have family close to lean on when needed.
Pavlik Harness
We researched and found a doctor at NY Columbia Presbyterian Hospital. His name is Dr. Harold Dick. He was wonderful, he was very supportive and immediately had us put Zoë in a Pavlik Harness.
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Zoë wearing the Pavlik Harness. The harness is supposed to force the leg into the hip socket in an effort to keep the ball of the femur in the socket of the hip. The harness goes around the body and straps over the shoulders. The leg supports wrap around and connect to the body straps. |
When Zoë started walking Dr. Dick had Zoë put in a prosthetic leg that had her foot in a ballerina position with her heel taking the majority of the weight.
Shriners Hospital – Portland Oregon
We were still searching for Doctors and found a doctor at the Portland Shriners hospital named Dr. Ivan Krajbich. My father (Eugene) flew Irene, I and Zoë out to Portland and we went to the Shriners hospital the following morning. The experience was fantastic. After we signed in, were were met by a social worker who explained the entire process. We had X-rays and them meet with the Doctor. He was very nice and explained all of our options including Lengthening and something called a Van Ness rotationplasty which involves removing enough of the leg to have Zoë’s existing foot brought up to her Knee and turning it so that her toes were backwards. Her foot would then act as a knee joint. This was his recommendation.
I was fortunate enough to have meet a childhood friend who was now a priest at the Portland Greek Orthodox church. He recommended a day trip to the Multnomah Falls in Oregon. We stayed a few days in Portland and actually backpacked throughout the mountains with Zoë in a backpack that was given to me as a gift by the people who worked at the Brooklyn Con Ed Information Services (IS) office in New York.
Amputation
We came back to New York and after speaking to a few families, decided that an amputation would be the best solution for Zoë.
We scheduled a Bone fusion with Dr. Dick and sought a second option. we were told this was the only option. We asked the office for the names of a few parents so we could speak to them to see what to expect after surgery.
Zoë was scheduled for surgery but got sick and the Pediatrician would not clear her.
We were given the name of a family in Long Island and left them a few messages. the family finally called us back and said “DO NOT” do the fusion. They found a doctor in Maryland Named Dr. Dror Paley and he told them they could save their daughters leg and would have to reverse the fusion that was done in NY.
Maryland Center for Limb Lengthening
We called up and made an appointment at the Maryland Center For Limb Lengthening and met Dr. Dror Paley. He took X-rays and came into the room and looked at my wife and I and held Zoë and said “I can fix this, I have done over 2000 congenital defects and …..”. Irene jumped up and gave him a hug and a I sat there in shock. I asked about complications and procedures and he explained that the hip and lower leg were in great shape and by his estimation Zoë would have a 19cm to 22cm discrepancy at adulthood and that he could do 2 maybe 3 lengthening and she should be even.