Ankle brace

Today we had our first visit with the Orthotist.  His name was Travis Carlson, CPO (Certified Prosthetist-Orthotist)  When we got there, he brought us back to the room and asked us why we were there.  We said Nash had PFFD and needed to be fitted for an ankle brace and shoe lift.  Before I had the chance to explain... he said "Oh yes! Proximal Focal Femoral Defficiency".  I was kind of surprised.  I usually have to tell the doctor what it is but he was pretty familiar with it! What a relief!!

He then explained we would be getting an AFO (ankle foot orthoses) brace.  The AFO has a hinged ankle so he can walk, run, and jump.  The brace goes around his foot and up his leg, just below the knee, to stabilize the ankle.  It is separate from the shoe so we will get the brace first and then a pair of shoes to make sure they fit over the brace.  We are very excited to go shoe shopping! :)

Travis had to make a mold of Nash's foot first.  He did that by putting a nylon over his leg and wrapping it like he was giving him a cast.  All Nash had to do was sit still for just a couple minutes.  Piece of cake!  Travis just talked to him and made him giggle a little and before we knew it...DONE!  He then cut the cast off.  We got to choose a pattern to put on the brace and choose the color of straps, too.  Its going to be pretty cool!  He said he had to send it to Washington to be made because that's where they specialize in pediactric prosthetics.  We should have it in about 2 weeks!! 

Chris and I felt really good after we left...another step in the right direction. :)

Our Orthitist, Travis, making the mold



Waiting patiently!  Such a good boy :)



Ok Here's the Plan

So this is what we learned from our visit with Dr. Paley.  It started with an x-ray and then a consultation.  He basically told us the basics about PFFD or what he now calls CFD (congenital femoral deficiency).  Its delayed calcification of the femur and hip bones.  In Nash's case it is unilateral or only on one side.   He classified  Nash's severity as a 1b.  On a scale of 1-4 , 1a being the best and 4 the worst or hardest to fix, that was good news.  He said his knee was normal and his ankle was good, too.  That was also good news because sometimes those can be deformed as well.   He wasn't sure if he has an ACL on his right side but he will know more when he does the first surgery.  That will be the "Super hip" surgery he will get when he is 2 yrs old.  It is an extremely complicated procedure where he basically reconstructs the hip, the joint, and top of the femur.  He has to work with all the nerves, ligaments, bone and muscle.  There is an incision from his hip to his knee.  Its a lengthy surgery and Nash will be in the hospital for 3 days and we will need to be in Florida for 2 weeks.  He will be in a cast from his hip down with a bar between his legs for 6 weeks.  He won't be able to crawl or walk, just scoot.  The cast will be removable so that will be nice for bathtime!  If all goes well he will be ready for his first lengthening a year after the hip surgery.




Doctor's office in
West Palm Beach, Florida

 

So that brings us to the lengthening process.  Dr. Paley said that if we didn't do anything and just let Nash grow naturally, he would have a 24cm length discrepancy.  That would be about a 10 inch difference in his legs.  Before this surgery, most people were advised to amputate and use a prosthetic.  This is just another reason we are so thankful for Dr. Paley.  He is giving our child and many others a chance to live a normal life.  The process starts with a surgery to cut the femur in half and insert pins into the bone.  These pins are connected to an external fixator where you turn the screws about  5 times a day to lengthen the bone.  You can gain about 1mm a day.  Nash will have to have phisical therapy for 2 hours a day for the first 4 months of this process.  That means we will be in Florida for the first 4 months.  This part is painful.  Not only are you stretching the bone, skin, and ligaments with the fixator, you are stretching the muscle with the PT as well.  I am not looking forward to this :(   Our goal is to get 8cm out of each lengthening.  It is possible but doesn't always happen.  It depends on each person and how their body reacts. 

After we get the length, we will get to go home!  However, he will keep the fixator on for another 4 months while the new bone hardens.  So basically he will have this device on for 8 months and we will get 8cm of growth.  One month for each cm of growth.  Nash will have to do this 3 times in his growing years or until he's 12 or 13.  One lengthening every 4 years.  That's the plan.

In the meantime, we will be getting him some fancy shoes with a lift on the right side.  Hopefully soon because he is ready to take off!  We have a friend named Madi in Des Moines who has CFD, too. She was nice enough to let us borrow her shoes to practice.  Nash was NOT a fan.  Hopefully he will like his better.  I think he was just mad because they were girly shoes :) Daddy says were gettin him some Jordans!



Nash with Dr. Paley




Nash practicing with Madi's shoe

 Hopefully this all makes sense.  We don't mind when people ask questions, we actullay like it because we want everyone to understand as much as possible.  Thanks for taking the time to read this and we appreciate your love and support!  I will update with pictures when we get his shoes :)

Lots of 'Firsts'

The first 9 months of Nash's life have been full of excitement.  We have enjoyed him so much!  He reached all of the milestones he should have.  He got his first tooth at 3 months and had 8 teeth by 6 months!  He rolled over, started crawling (after lots and lots of practice), sat up after he started crawling and currently pulls himself up on everything.  He has a very unique way of crawling, he uses his knee on the left side and foot on his right.  Its very cute and he is really fast :)  He gets into everything!  He says "mama, dada, baba, and nana."  Just for the record, he said "mama" first :)  We are currently working on waving bye-bye and dancing.  He loves playing with other kids and our puppies.  His favorite things to do are play basketball (with his own little hoop) and go on long walks with his mommy.  We also had a great time at his first Tulip Time.  He was very handsome in his Dutch costume.  We even got to be in the parade!

This last week, he had a lot of big 'firsts'.  We went to Florida to meet Dr. Paley  for the first time, so he had his first airplane ride.  He did very good!  He didn't cry once and made lots of friends.  He's a little flirt :)  He visited the ocean for the first time.  That was fun but he wasn't sure about it.  He loved the sand and water but it was REALLY hot!  We stayed with our friend Sarah while we were in Florida, and she became his first girlfriend ;)  He was on a roll!

When we went to visit Dr. Paley's office, everyone was SO nice.  We immediately felt at home.  Everyone welcomed us individually and even the people in the waiting area were friendly.  We met a woman in who introduced herself and offered to help any way she could while we were in town.  Her son was being treated by Dr. Paley and she lived in the area.  She asked if she could give Nash her phone number so he could call her the next time we were in town.  I guess that would count as his first phone number from a girl!! :) 






















Nash Christopher Gehrls :)

On August 10, 2010 at 6:30pm Nash Christopher Gehrls was born.  He was 7lbs 14oz and 21inches long.  The most amazing day of my life.  We were so excited to meet this little angel and finally see his sweet little face.  And just as I suspected...PERFECT!!  He is so loved by so many people I just can't even explain how blessed we are to have such wonderful family and friends.  Probably the proudest person was his big brother, Aidan.  He got to be one of the first people to come to the hospital and hold him.  It was so sweet, he wore his "I'm the Big Brother" t-shirt for 2 days :)

Of course when he was born, Chris and I were anxious to see this little leg that had been such an issue througout my pregnancy.  The funny thing was, you couldn't even tell!!  Unless you stretched them out, they looked perfectly normal.  It wasn't until he started to grow a little that you could see a difference.  To be honest, I was relieved.  We hadn't told many people about this yet and we wanted to get comfortable with it and more educated about it before we explained it to everyone.  We just wanted to enjoy him a while before all the reality set in.

We slowly started explaining Nash's condition to the people closest to us.  We really needed support.  It was hard to talk about at first and  most of the time I would cry when I told the story, but I've gotten much better about it. Here it goes...

PFFD is a very rare condition.  Between 1 in 800,000 to 1 in 1 million babies are born with PFFD.  They don't know what causes it, and previous to Dr. Paley developing a surgery to fix it, the options were mostly amputation and use of a prosthetic leg.  With the delay in bone growth, the hip is usually affected as well.  There are a few classifications of severity.  Beginning with 1a, 1b, 1c to 3 or 4.  1a is the least severe hip deformity, 4 would be the worst and very difficult to fix.  So you have to correct the hip deformity first before you can lengthen the bone.  The surgery that Dr. Paley developed is called the 'Super Hip' procedure.  It was designed specifically for this particular condition or birth defect.  He is one of only two doctors that have ever performed this surgery.  However, he has done over 200 of them and the other doctor in Baltimore has done less than 30.  That alone made our decision to go see Dr. Paley much easier.   This surgery can't be done until he is at least 2yrs old.  Then a year after that he will have his first leg lenthening.  He will likely have 3 lengthenings in his 'growing years' One every 4 years. The good news is that when this is all said and done he will have two legs the same length!  That is our goal.  I know our little Nash is tough...he's proven it to us before so we know he will be fine.  He's our little hero :)

It's a BOY!!

I remember the day so well.  It was March 15, 2010.  Chris's birthday.  We were so excited for that ultrasound we could hardly wait!  I was ready to start shopping for our little one. I just wanted to know if I would be buying shabby chic or sporty stuff!  We happily found out we were having a little boy.  Chris was over the moon.  I was happy and nervous.  What was I going to do with a boy?!  I can't braid his hair or paint his nails!!  Chris was very sweet and said that I would be just fine.  It would all come natural and little boys love their mommys.  He was so right :)

After the ultrasound we went and waited for my doctor to come tell us he was perfect and we would see her in a few weeks.  When she finally came in the room she said everything looked great, except for one thing...his right femur was growing about 5 weeks behind his left one.  I wasn't sure what she meant because I didn't know this could even happen.  She then started to explain that she wanted us to go to the University of Iowa Hospitals for further testing.  Chris and I just looked at each other and we were so confused.  What was going on? Why was his leg not growing? Was it going to catch up to the other one? Would our little boy be able to walk?  Did the ultrasound tech measure wrong?  We asked most of these questions and our doctor didn't know what to say.  She finally said that she wasn't sure what was going on.  She had been doing this for 6 years and "had never seen anything like it".  We were devastated.

After googling "unilateral short femur" for 2 weeks and finding very little, we finally had our appointment in Iowa City.  We had another ultrasound and met with a wonderful prenatal doctor, Dr Santillion,  who sat down and talked to us for a long time.  He was unfamiliar with what was going on and admitted he had never seen this before either.  He advised us to do some further testing to rule out any chromosome abnormalities, such as Downs Syndrome, or any infections that could have possibly caused  this.  I had an amnio that day and they took 3 viles of amniotic fluid.  (I didn't watch but Chris said the needle was very long!)  Within 24 hours we had ruled out Downs Syndrome and within 2 weeks we got the rest of the results and everything came back completely normal!  All of this was great news but we still didn't have an answer.  Why was his leg shorter?  Dr. Santillion did some reserch and thought it was most likely PFFD (Proximal Focal Femoral Deficiency)  Which basically means delayed calcification of the bone. Thats why it wasn't growing as fast as the other femur. 

After that visit, Chris and I had 4 more ulrasounds in Iowa City to monitor the growth of his legs.  They grew at the same rate throughout my pregnancy except the right one was half the size of the left.  In the meantime, I switched OB/GYN doctors to Dr. Pickering. He was amazing from the first visit and even though he had never seen a baby with PFFD, he made an effort to learn about it.  We did too.  There isn't a lot of information out there but we found a website that gave us hope.  It was an orthopedic surgeon's website who specialized in fixing rare birth defects of the bones, such as PFFD.  Finally, someone who knows SOMETHING! We had felt so alone and no one could tell us anything so when we saw this website we were very happy.  There were people of all ages going to this guy and singing his praises. His name is Dr. Dror Paley and he is the answer to our prayers!