From Then to Now

So with relief that there was a doctor out there that could help Madi we were able to just enjoy watching her grow. She never has failed to amaze me. She eventually figured out her own little way of crawling. With her knee one side and her foot on her shorter side. She very quickly figured out that she had an advantage with her shorter leg. She could get her shorter leg up to things and hoist herself up, and so she quickly learned how to go up the stairs. As our trip to Florida came closer, I became a little more nervous. Would if we got there and he changed his mind? Would if her condition was even more severe than he thought? I wrote down every question I could think of and we embarked on our trip to West Palm Beach. We had xrays done and when we finally got to see Dr. Paley, he outlined his plan for Madi. He said that her right femur was about 8cm shorter than her left femur and that her right hip was very deformed but was present which was good. He said that when she was full grown her discrepancy was predicted to be 21 cm. We had a lot of work to do! He told us she would need a Super Hip Surgery at the age of two. This would correct the deformity of the hip and stabilize it to prepare her for the lengthening process. She would then need 2-3 lengthenings. Two lengthenings if she was predicted to be tall and three if she was not. If we thought she would be tall then they could eventually stop the growth in her good leg to even her out, which is much easier then a lengthening. This could only be done if she could stand to lose some total height though. Only 8cm can be done during each lengthening process and they would be done when she was 4,8 and 12 years old. Ok, so we had a plan. The hip surgery would only require us to be in Florida for 2 weeks. Harder to hear was that the lengthening would require us to be in Florida for 4 months. I still haven't figured out how I am going to do that. One thing at a time I guess. Dr. Paley prescribed Madi with a 7cm lift and an AFO brace to stabilize her ankle.

So when we got home we immediately got her brace fitted and got some shoes made for her. It may have been a little premature as she hated wearing them. She was much happier crawling. Crawling was faster and more efficient for her. Just as I was starting to worry that she just wasn't getting this walking thing, she took off. Which takes us to the present. Madi just started walking a few weeks ago and now walks circles around our house. I have said it before but I have to say it again. This little girl just amazes me everyday. There is nothing that holds her back. I am so proud of her!

The Journey Begins

The journey begins. I created this blog as a way for family and friends to keep updated on my daughter Madi's journey with PFFD. I also hope that it may give some of those other parents or families out there that are going through their own journeys a place to hear someone else's story and receive some support.

Here is where this it all started. When was 21 weeks pregnant with Madi, we went in for an ultrasound in my OB's office. We were so excited because we could finally find out the sex of the baby and I am one of those that needs to know so I can plan. When the tech got the word from us that we did want to know the sex, she checked it out pretty quickly. It was a girl. I was so excited. I had my older daughter Julia, who was about 20 months old at the time there and I was thrilled that she would have a little sister to share a special bond with. The technician went about the usual things during the rest of the ultrasound and looking back on it I do remember her spending a lot of time measuring and remeasuring Madi's legs. I guess I just chalked it up to inexperience. She finished the ultrasound and then said to us that she was going to get the doctor because she wasn't sure she was seeing what she should be with Madi's leg. Still, I was thinking this tech is just new and must not know what she is doing. After all, Julia was the healthiest, most by the book pregnancy and baby ever. When the doctor came in, our world changed forever. She told us that Madi's femur bone was significantly shorter in her right leg than the femur in her left. She said she had not seen this before but said it may have been caused by amniotic bands. We were then scheduled for another ultrasound at a specialty clinic. This is where we first heard the term PFFD or Proximal Focal Femoral Deficiency. The neonatalogist diagnosed the condition and said that he maybe had heard about it in med school once. We were told she was totally healthy, she just had a short femur bone. We were then given some 10 year old printouts about that condition that mostly talked about amputation as the treatment. To say I was crushed, is an understatement. I always took such impeccable care of myself when I was pregnant, how could this happen? I immediately started questioning what I did wrong to make this happen. Was it that sip of wine I had before I knew I was pregnant, were my baths to hot, was it the lunch meat, did I not take enough DHA or folic acid, what?? With no answer to these questions and no doctors that seemed to know anything about this condition, I hit the Internet. It took some time to find information. I eventually found a PFFD group on facebook and met some of the most amazing parents who shared their experience and made me feel so at ease. For the first time I felt that everything would be ok. I am so grateful to all of those parents who reached out to me.

Fast forward to Madi's arrival into the world. One of the happiest days of my life. For a while I forgot all about her condition. She was just so beautiful swaddled in her blanket. I do remember asking my husband at some point if her leg really was short. You know, like maybe the ultrasounds were all wrong. He said it was shorter and when I had a moment with Madi by myself I mustered to courage to look. Her legs were the most beautiful little legs I had ever seen. She was perfect!

We had a orthopedic surgeon evaluate her and have xrays taken. He told us what we already knew and that at this point there was nothing that needed to be done. As she grew and got closer to 6 months we would be able to see more. When she was 3 months old we took her to another ortho surgeon who said that her right femur was about half the length of her left femur and that her hip was not there on her right side. He said there was nothing he could do and he recommended doing nothing and she could use a prosthesis. While I was ok with that, I knew I needed to know if lengthening was an option. The people on the PFFD groups kept talking about this Dr. Paley in Baltimore that was amazing. So I decided to just send him an email. I sent Madi's xrays and a note asking if he could help. My heart skipped a beat when my phone rang early the next morning with Baltimore caller id. I will never forget that morning. He said I can help her, I can fix it. He then said he wanted to see her when she was closer to a year and after he got settled in his new location in Florida.

I finally felt like I found a doctor that knew what this condition was all about. That was a blessing.