Soon to be an amputee (Fibular Hemimelia / Postaxial Hypoplasia)

Preface: When we found out Sydney had Fibular Hemimelia / Postaxial Hypoplasia we had a hard time finding information about it and decided to try and document her journey. We hope this will help others who have to make this decision for their family.

The Background

Almost 4 years ago, our daughter Sydney was born with a condition called Fibular Hemimelia (more recently named Postaxial Hypoplasia). She was also born with 4 toes on that foot (her right) and a club foot.

When she was a baby she had her Achilles tendon clipped (Ponsetti method of correcting a club foot) and wore multiple casts over 6 weeks to straighten and stretch out her foot. Once the correcting casts were done, she wore shoe braces (Dobb's bar) at night for the next 2.5 years.

She then resumed to "normal" life. We visited doctors in Utah while we were going to college about her condition and were never really told that she had Fibular Hemimelia or great detail on what may be ahead for us and for her. At the time, we were basically told that she would eventually have a limb lengthening to correct the length discrepancy in her right leg. We then moved to Austin, Texas for work and we began to go to the Scottish Rite hospital in Dallas, Texas.

Mommy and Sydney at the Scottish Rite Hospital in Dallas

That's when we were officially told that Sydney had Fibular Hemimelia and the doctor told us to go research it. That's when we first realized that amputation was a pretty common procedure for this condition. We were pretty taken back at first at the idea of ever doing that. In the first few years of life, Sydney was always told that she had a relatively "minor" case and that limb lengthening was most likely the correct course of action. It wasn't until we moved back to Utah recently that we began seeing yet another new doctor that we were told that amputation might actually be a good option for us. We were again pretty shocked as we had been led to believe that limb lengthening was the way to go. At this appointment we were also told that Sydney had to be casted again since her achilles tendon had tightened due to walking on her tippy toes. After the casting, she was told that she had to wear ponsetti braces at night to prevent this from happening again.

Sydney getting her new cast at Primary Childrens

Sydney getting her cast taken off at Shriners

We have since spent the last 2-3 months researching, reading blogs, talking to people who have gone through both procedures, talking to many doctors, consulting with family, praying, pondering and trying to make the best decision for Sydney. We heard about the Shriner's Hospital in Utah when talking to another family who had a double amputee and headed there to get a second opinion (or third or fourth...). In that first meeting we were still pretty conflicted on which path to take even though we had done a lot of research. When you do research on the internet everything is very biased one way or the other and most people you talk to are very biased as well. This makes it tough to make your own decision. At the appointment we were leaning towards amputation but weren't sure yet and weren't very vocal to the doctor. After analyzing Sydney and some old X-Rays that we brought with us from Texas, we were again told that we should keep heading down the path of limb lengthening. We went home confused and did more research about limb lengthening. We looked into potentially going to Florida or Maryland to visit the leading experts in limb lengthening procedures (Dr. Dror Paley in Florida or Dr. Standard/Dr. Herzenberg in Maryland). This would require us temporarily relocating to the location for a few months to have the surgeries and some physical therapy there. The more we continued to look into limb lengthening, the more we continued to feel that it wasn't the right way for us to proceed for Sydney. We then set up another Dr. appt at Shriner's hospital with a new Dr. In this appointment, new X-rays were performed and we learned a lot of new information that we didn't know about Sydney's case. We will attempt to summarize this below and we will talk about the treatment options later.

SYDNEY'S CASE

 Here is a list of everything we currently know of:

1. Shorter tibia and fibula (approx. 2-2.5cm.)
2. Shorter femur (approx. 1.5cm.)
3. Under developed fibula - a normal fibula would be longer than the tibia but her's comes to the tibia
4. No ACL
5. Knock knee (Genu Valgum)
6. Ball and socket ankle
7. 4 toes (extremely cute 4 toes)
8. Minor Hip Dysplasia
9. Valgus Ankle / Club foot (tight achilles tendon and stiffness of the ankle)

X-rays from our appt on tuesday

Before we go into our decision here is some info on the pros and cons of either path and a lot of the information that we considered as we have pondered this.
 
THE OPTIONS (Caveat: we are a little biased at this point now that we have decided and by no means do we think that anyone who doesn't agree with us is making the wrong decision. It's a very personal choice and we would never judge anyone regardless of their decision...)

There are essentially 2 options. 1) Do the amputation in the next several months or 2) plan on doing reconstructive surgeries (including limb lengthening) throughout her childhood. We wanted to write out what we view to be the pros and cons of each. This has been a matter of much concern to us and we have definitely done our fair share of research and due diligence and hope that this might be a way for others to understand our decision and to help other people in the future make their own decision. We will attempt to be as unbiased as possible although we have come to our own conclusion that works for our family. We are aware that many people have strong opinions about this subject and we know that whatever decision we make, there will be hard times ahead and hope our friends and family will be here to support us.

We are obviously not doctors but here is our synopsis of both options as we have understood it...

Option 1: Amputation 

Overview: Sydney would receive a Syme's amputation which is an amputation of the foot (it would be right below the ankle joint and she would keep all the cartilage in the stump). The heel pad would then be used to give a sturdy weight bearing stump. Usually this is done around 10-12 months but Sydney would have it done around 4 years old (in approx 2 months).

Pros:

• Sydney can move on and begin adjusting to her new life as an amputee. Studies have shown that if you do the amputation early in life, you are less likely to experience "phantom pain." Also she most likely won't remember the surgery or what it was like with both feet.
• Fairly predictable outcome - Minimal complications and risks - you know what you are going to get with an amputation - less uncertainty
• Less residual surgeries (residual surgeries will most likely only involve the knee / femur and be fairly non-invasive)
• Complete mobility and function of the leg and is comparable to that of a normal leg.
• Ability to walk, run, swim, skate, etc.
• Only one major surgery and Sydney can go about her normal life (a minority of children with complicated cases may need more surgery down the road)
• With amputation we would avoid surgeries of the ankle, lengthening of the fibula (approx. 1 - 1.5 year process of surgery, recovery and therapy), lengthening of the femur (approx. 1 - 1.5 year process of surgery, recovery and therapy), and hip surgery (most likely)

Cons:

• Sydney will not have her own foot - potential for self image issues
• She would need different legs for swimming, heavy running, etc.
• Having to deal with stares, questions, etc. that accompany being different.
• Each prosthesis requires her to re-adjust how she walks
• We will have to clean out the prosthesis every night and let it dry overnight
• Depending on the prosthesis, you might not be able wear it at the beach or it may require heavy cleaning afterwards (and same for other dirty outdoor activities)
• Cost is high for prostheses (most cost should be covered through Shriner's until she is 21)

Option 2: Limb Lengthening and reconstructive surgeries

Overview: The doctor basically explained that Sydney would have several reconstructive surgeries throughout her childhood and teenage years. These include surgery of the foot and ankle (potentially multiple times), lengthening of the fibula (1-1.5 year process which is very painful and intense), lengthening of the femur (1-1.5 year process as well), knee surgery to correct knock knee, hip surgery to correct the hip dysplaia. A good chunk of her childhood and teenage years would be filled with surgery and recovery. And the end result would likely be a stiff ankle that is partially functional and a leg which may or may not be fully functional. There is always the chance that you will have to amputate down the line as well if more complications arise. Due to the fact that she has so many issues in her leg, the likelihood for complications is higher.

Pros:

• Sydney keeps their own foot
• She may end up with close to normal function of the leg once she is an adult.
• We don't have to make the difficult decision for Sydney to amputate before she is old enough to fully participate in the decision-making process.

Cons:

•  Several surgeries must occur over several years ranging from ankle surgeries, leg lengthening surgeries, club foot corrections, knee surgeries, hip surgeries etc. And there is a chance that she will continue to have surgeries her whole life to keep correcting her ankle or other joints/limbs.
• To do the leg lengthening the doctor would go in and cut the bones and attach a large external fixator that by using pins would be drilled into the bone and help to stabilize the leg while the cut is in the bone. Over about a 2-3 month period of time you literally crank the machine to move the bone farther and farther apart until the leg is at the desired length. After the desired length it met, Sydney would continue to wear the external fixator for about another 2-3 months  and then a full leg cast for another few months to help that bone continue to solidify. After this she would have months and months of physical therapy to try and regain motion in ankle and knee as well as adjust to normal life again. If you want a specialist to do all of this (which is smart) you would have to go to Florida or Maryland for months or do lots of travel. Sydney  would undergo hours of intense physical therapy during the long rehabilitation process. 
• If they aren't able to get all of the length corrected (you can usually only lengthen 20% of the length of the bone in one lengthening), you may have to do this multiple times. Many people end up with infections in the pin sites which are extremely painful and can complicate the whole process.
• The doctor told us that by lengthening the limb, you will severely damage the cartilage on either side of the bone and Sydney would be left with a 30 year old ankle / knee / hip. We would also have to do hip surgery due to the pressure the lengthening would apply to the hip.
  

Sydney would likely be left with pretty significant scars on her leg and a leg that is much skinnier than her other leg. The foot would most likely only be partially functional due to the stiffness she already has. She would still have a smaller foot requiring two different size shoes the rest of her life.

• Because of the intensity of all of these surgeries, we will have to focus a lot of our time and energy into helping Sydney get through this and there is the potential for the other kids to feel left out or ignored. They might feel resentful towards Sydney

• Sydney would likely miss months of school while undergoing the lengthening surgeries.

• Sydney would likely wear a platform shoe on her right side due to the leg length discrepancy which may lead to teasing and bullying.
  
  

   

  

OUR DECISION - WHAT HELPED US DECIDE

After months of research, prayer, meeting with doctors, etc. we feel like we finally got our answer after we met with our last doctor at Shriner's on Tuesday. After looking at the x-rays and analyzing Sydney's feet and legs, she was able to explain with great detail and clarity the extent of the issues that Sydney has. She explained the intense path we would have to take if we went down the route of limb lengthening. Sydney's case was much worse than we had previously been told. She said that if it were her child, she would amputate as well (she told us she was holding back her bias and desire to tell us this until we had shown that we were heavily leaning towards that direction). In that moment, it just felt right and we felt like we had all of our questions and concerns resolved. We felt peace about the decision and set up an appointment to have the amputation surgery on June 18th. The timeline for all of this is pretty simple. We would go in for the surgery on June 18th. Sydney would stay in the hospital for 2 days/nights while an epidural keeps the pain under control. Then she would be put in a cast for 5-6 weeks. After that she would be fitted for her first prosthesis. A couple weeks later she would get her prosthesis and do a few physical therapy visits to get used to walking in it. She should hopefully be ready to go for pre-school in the fall if all goes as planned. Down the line we will likely need to do a minor knee surgery to correct the knock knee and do a growth clamp on her femur on the longer leg to correct some of the length discrepancy. All of the other issues shouldn't be an issue since the amputation would remove the foot and correct most of the limb length discrepancy.

Sydney after her x-rays.. she was picking out a sticker

Our awesome Dr!

Just chillin...

We got a tour of the prosthetics area. Super cool!

That is a summary of a lot of what we have learned and thought about over the last several months. Lots of people have given us their opinions and we have struggled to decide what we should do. We have gone back and forth many times but we feel good that we have decided that for our family and for Sydney, the best option would be to do the amputation. It's an excruciating decision we have had to make. Sydney is aware and although she is a little scared you can tell she is going to handle it so well. She is just excited to put some cute fabric on the prosthesis (she has already picked her next 6 years of prosthesis designs). She is also convinced that the prosthesis will make her run really fast and jump really high and make her "tall to the ceiling". She also wants the prosthesis to have a really big foot so she can wear mommy's shoes. We have kept her involved in the decision making process and believe that she understands to the extent that a 3 year old can that this is the right path. This has been one of the toughest decisions we have and probably will ever have to make. We have the blessing of knowing God's eternal plan and know that Sydney has great things in store for her and one day will get her foot back. We have each written Sydney a letter for her to read later on in life so she can understand why we chose this route for her and how we came to our conclusion. Hopefully this helps if/when she is struggling as a result of the amputation.

I also want to add that we are very grateful that Sydney is a healthy little girl and that it was only her leg that has issues. Anytime we start to get too in our heads with it all we remind ourselves that things could be much worse and we are grateful for her overall health.

Let us know if anyone has any questions about Sydney's case, the amputation, how we made our decision or anything else. We are happy to talk about this and share anything that might be helpful to others.

Thanks for the support!