5.16.2008

Fibular Hemimelia & Amputation--

Whenever I see a new search engine recommended, I usually plug "fibular hemimelia" into its search box for my trial run. The condition basically boils down to being born missing a fibula--and often (though not in my case) some toes. Other leg issues, like a shortened femur, missing ligaments, etc., may also be present (as in my case).

"fibular hemimelia" in Wheeless' Textbook of Orthopaedics

When I was born (1974), amputation was by far the most common treatment. The alternative: a lengthy series of surgeries, many experimental, designed to promote tibia growth and counter a leg length discrepancy. My right leg's growth was "stimulated" in a variety of ways including a fasciectomy; my left leg's growth was stunted, and I'm now at a difference of about 3 inches, for which I wear a lift (I may eventually undergo leg lengthening surgery to even 'em out, but I'd need a couple other surgeries first to make my leg strong enough to withstand the lengthening--and as an adult working a 40-hour job, that kind of free time/leave isn't anywhere near as available to me as it was when I was a student or working part-time). I remember feeling very lucky to have been born in a time when (and metro area where) alternatives to amputation were possible, if rare.

Interestingly, what I've found searching "fibular hemimelia" in the last year or so is that amputation is once again the most common (even most desirable) treatment--and that apparently "children who undergo early amputation are more active, have less pain, are more satisfied, have fewer complications, undergo fewer procedures, and incur less cost than those who undergo lengthening." ("Fibular Hemimelia: Comparison of Outcome Measurements After Amputation and Lengthening" in The Journal of Bone and Joint Surgery 82:1732 [2000])

I've grown up thinking of amputation--in regards to fibular hemimelia--as a primitive solution that modern medicine made it possible for me to avoid. The surprise? All the below folks were born with fibular hemimelia, are significantly younger than I am, and opted for amputation. You may have heard of the first one or two.

"Amputee Ineligible for Olympic Events" from the New York Times
"Pistorius, 21, was born without fibulas and had both legs amputated below the knee when he was 11 months old. But in the four years since he started competing, he has set Paralympic world records in the 100, 200 and 400 meters and it was his dream to compete in the Olympic Games."
UPDATE: This was just overruled--Pistorius might compete.

Wikipedia article on Aimee Mullins, model/actress/athlete born in 1976 with fibular hemimelia in both legs, both of which were amputated. "She has been named one of the fifty most beautiful people in the world by People." Mullins at MyHero: "Without her legs, she could still learn to walk with artificial ones. With her legs, she would have been confined to a wheelchair for the rest of her life."

Team Ossur Member Jeff Skiba--The First Amputee in History to Clear Seven Feet in the Men's High Jump
"Born without a fibula in his left leg due to a congenital defect known as fibular hemimelia, doctors amputated [the 24-yr-old's] leg below the knee when he was less than a year old."

Oak Park Hockey Player Isn't Held Back by his Prosthetic Leg
"Now a junior at Oak Park, Brown scored seven goals in 19 games this season. That's no small accomplishment for any player, particularly Brown, who was born in 1990 with fibular hemimelia in his right leg...Tonya Brown, Jake's mother, says the family consulted with doctors all over Kansas City, but few had even heard of fibular hemimelia. The early prognosis was that Jake would never walk...The Browns finally found comfort at Shriners Hospital in St. Louis when they met a family from Indiana with a daughter Jake's age who also had the condition. Additionally, the Shriners doctors were familiar with the condition...Unfortunately, the best course of action was amputation."

Racing to the Paralympic Games
"Tyler Carter of Topton is a typical 14-year-old...And oh, by the way, Tyler has only one foot. Tyler was born with fibular hemimelia, a congenital condition that left him without a fibula bone in his right leg. As a result, the leg was amputated below the knee when he was 1, leaving him with what he jokingly refers to as 'my stump.' Despite his disability, Tyler is a competitive skier who often beats able-bodied competitors in races held throughout the Poconos..."

26 comments:

Valerie Loveland said...

My friend's little girl just had surgery last week for this. She was fitted with a external fixator so they can lengthen the bone.

Emily Lloyd said...

Yep, that's the same one I might do eventually--my leg just isn't stable enough to withstand it yet (I was also born missing a few ligaments, random stuff, so my knee and ankle are wonky). Good wishes to your friend and her daughter. A tough choice, I know, for any parent to make.

Lengthening has apparently become fairly common in China purely as a cosmetic surgery--folks just want to be taller, so they have both legs lengthened. There are also a few brief shots of a "cosmetic" ex-fix lengthening undergone by the Ethan Hawke character in the movie Gattaca.

It's come a long way: when I was little, docs said that I'd need to do it before I stopped growing if I wanted to do it at all--now, people in their eighties get the surgery.

LKD said...

This is sort of on and off topic:

Have you ever heard of body integrity identity disorder?

People who suffer from this disorder are obsessed with amputation of certain limbs to such a degree, and believe so completely that they were born in the wrong body, that they'll often attempt to saw off the offending limb or limbs.

For a moment, after reading your post, I recalled this strange disorder, then thought I'd imagined it. So, I googled it--of course--and just finished reading about a man who was determined to be a double amputee, so he packed his legs in dry ice for 6 hours then drove himself (with hand controls he'd already installed in his vehicle) to the hospital, where they eventually had to amputate both of his legs.

Is yours a genetic condition, E? Or just some fluke thing?

Emily Lloyd said...

Hey, Laurel, yes, I've heard of that. It's also a fetish--people wanting their partners to get amputated, etc.

My fibular hemimelia: not genetic, maybe a fluke. A fibula is the most common bone one can be born missing. My mom took nothing (no caffeine, no tylenol, etc.) while she was pregnant with me but Bendectin, a morning sickness drug that many alleged caused limb defects in children. It is my belief that Bendectin was responsible for my birth defect. The drug has a big messy legal history: http://www.kaisernetwork.org/Daily_reports/rep_index.cfm?DR_ID=1513

--but the burden of proof wasn't satisfied.

Kathryn said...

Hi...I have a 9 mo old w/ FH and I would love to talk with you more at length. I'm also a member of an online group for FH patients/parents. Is there a way to contact you via email? Thanks...Kathryn

Emily Lloyd said...

Kathryn--of course! I'm at

elloyd74@gmail.com

MRW said...

I'm Almost 21, i was born with FH i've had a couple lengthenings. one to my tibula when i was in the 3rd grade and my femur in april 06-aug 06. unfortunatly during the femur lenghtening my knee and knee cap because dislocated and stayed that way for a couple months now i am unable to bend my knee. i love my parents for never limiting me to what they thought i could do, if i wanted to try something they would support me 100% if anyone knows any good sites for people who have this, id love to know, ive never talked to anyone else who has this birth defect and would like to discuss life with it with others.

amy said...

Hello Emily Lloyd!

I came across your blog while googling FH. My 20 month old daughter has FH on her left leg, deformed foot & webbed toes. It's been hard for me to find much information on the topic so it was nice to see your comments on it. I'm constantly struggling with the decision of amputation verses leg lengthening. I don't feel comfortable making this decision for my daughter, even though I do have her best in mind. As someone who's gone through it in the past, and given the advances in medical technology.. would you do the same again? It sounds to me as if you're glad to have gone through the lengthening rather than ampuation. At this point, we've decided to keep my daughter's leg and opt for the lengthening procedures. I have found a surgeon that handles the procedure, but not until she's around age 5. It's been another struggle trying to figure out how to handle the situation for now though. She has the surgeon that will operate on her when she's around 5, her pediatrition that is basically clueless about the diagnosis and I have an orthopedic office that has "built" some shoes and a leg brace for me.. but other than that, I don't have a doctor for the FH. Can you recommend a certain type of doctor I should look into for a course of "treatment".. at least someone that can help me figure out what to do (like how to get shoes made) until she has the surgery? At this point in her life, no doctors are guiding me on this journey.. I have to figure out what to do each step.. Just trying to learn as much as I can to help my daughter have a healthly childhood. Thanks for reading this!

Cynthia said...

Hi Amy: My son is now 17 years old and was born with severe fibular hemimelia of the right leg in 1991. My husband and I became advocates for his health. We searched websites and called some of the largest health institutions in the country. We took him to numerous specialists: NYU Medical Center, NYC; Johns Hopkins Hospital, Maryland. We finally were introduced to a wonderful and compassionate orthopedic surgeon, John Herzenberg, who is currently practicing medicine with another outstanding orthopedic surgeon named Dror Paley. Dr. Paley actually appeared on 20/20 in 2000 and on the Oprah Winfrey show about 6 years ago. Dr. Herzenberg was my son's surgeon. The surgery performed on my son by Dr. Herzenberg was the stunting of the growth platelet in his left leg. They usually do that as an initial surgery before starting on the leg afflicted with FH. We actually didn't go through with the actual lengthening procedure nor did we have his leg amputated. We decided to hold off due to other health issues my son had like Crohn's disease and the arthritis associated with Crohn's. However, since that time, we have decided to let him choose limb lengthening or amputation--he'll be 18 in June. If you are considering limb lengthening for your child, I highly recommend Dr. Herzenberg. I was a part of a parent group whose children had their lengthening done by him. I stayed in touch with 4 of the families and learned that the children have done well since the surgeries. They have now a new method called the ISKD rod--it is surgically inserted inside the bone and must be rotated periodically with a device that resembles a TV remote control. The rod is made of titanium which is a safe metal for the body. I met a young lady from Iran--22 years old back in 2007 who had the lengthening done with the ISKD. In the lst 3 months she had to go back in for surgeries because of adverse effects of the ISKD rod--but later after some months--her lengthening was coming about smoothly and she had no more complications. I spoke with her mother and she said in the beginning it was frightening because of some complications, but now they are glad they went through with the new procedure (ISKD). She was part of the clinical study group.
Dr. Herzenberg and Dr. Paley are located at Sinai Hospital in Baltimore Maryland at the Rubin Institute which is part of the Lifebridge health system. I would strongly recommend that you contact them for a consultation. Whatever you do, do not allow yourself to be rushed into anything you are uncertain about--follow your intuition (it is God's voice speaking to you!)--never second guess it. Sometimes waiting is the best thing we can do for our loved ones and ourselves...PATIENCE is definitely a fruit of the Holy Spirit.
God Bless you and your child,
Cynthia

Josh said...

Thank you for posting this information about your experience. My wife is pregnant with our second child and after having our 19 week ultrasound we were informed that they could not see a fibula in the right leg. We are going for a more in depth ultrasound next week (my wife will be 21 weeks along). I'm only hoping they've overlooked the fibula on the first scan but am very worried and scared that our new baby has fibular hemimelia. We're supposed to be excited and filled with joy over the birth of our second precious baby in just 4 months but now our minds are filled with thoughts of surgeries, amputations, our child being teased, limitations on their physical ability, etc. After researching the last couple of days online since just finding out this may be a factor for us it's obvious how rare this is and I can only hope that more people like yourself come forward to share.

Thank you.

priscilla said...

Hi, like most others here I came across your blog from googling FH. I was born with this and at the age of 26 I electively had my leg amputated below the knee. Like you, I was always looking for an alternative but now there is no looking back. I am now 30 and life is normal and wonderful.
I love that the internet helps us all read about each other and discover that there are so many people out there with the same challenges! :)

Emily Lloyd said...

Priscilla, thanks for commenting--you're the first person I've heard from who decided to amputate fairly late in life. I've thought about it myself, and I may yet, depending on how my leg feels in a few years. Have worried a bit about the psychological effects of doing it in adulthood. Good to hear that it has worked so well for you!

Jennifer said...

Hi Emily - I just found your blog when I googled FH and amputation. I was born with FH in 1983 and have had 2 leg lengthening procedures to make up for the length discrepancy and to straighten out my foot. For the longest time I was doing really well and now things are kind of deteriorating again. It was interesting to read Priscilla's post about amputating late in life - that's something I've always known was an option but I feel like going down that road would be "conceding." Hearing someone speak about it so positively definitely puts a different spin on things. Thanks for blogging about FH, it's nice to know there's a community out there!

jencurley said...

My son was born with fh 6 years ago. He is having his leg lengthened for the 2nd time and he really is doing so great! He sees Dr.Standard at the International Center for Limb Lengthening in baltimore and we could not be happier with the treatment he has received. Lengthening is not as scary as some sites make it out to be. My son runs and lives his life happily in his fixator. I blog about our family's journey at fibularhemimelia.wordpress.com

Scott said...

Our baby girl was born two days ago wihtout a Fibia bone in her right leg. She also was missing a toe and her right foot was smaller than her left foot. If anyone can give us advice on what our options are and what they might recommend we would greatly appreciate it. Thanks Scott shsimons@gmail.com

Emily Lloyd said...

Scott, congratulations on the birth of your new baby girl! I was born 35 years ago, and options are very different now, but I highly recommend Dr. Dror Paley if you're interested in limb lengthening: http://www.stmarysmc.com/en-us/ourservices/medicalservices/pages/paleyadvancedlimblengtheninginstitute.aspx

em
Reply

Forward

Anonymous said...

My 2 year old son is set to under-go amputation in July and I am worrying myself sick about how this will affect him in the long run... I feel as if this is the best option for him seeing that his doc said this is the best and almost only chance for him to walk but I am so torn... :-(

Jennifer said...

Please come on the web chat with dr. standard thursday night at 8pm. Email , for instructions and the password. You can ask just about anything and chat with other parents who are where you are or were where you are. I always think if you have doubt dont. Don't do it yet. Amputation may well be the right choice but you want to be really really sure before. It does not hurt to get more info. 9 of 10 docs would have told me the same thing about my son and he is doing great with his leg!

jennifer said...

Vbrady at lifebridgehealth dot org
thats the contact for thursday's web chat with Dr. Standard

Sukalyan said...

Can anyone tell me what is the difference between "amputation" and "bone lengthening". My nephew is having this problem in left leg and only 1 month old. Can he walk on both legs? What can that age be? What can be the total expenses till that time in both the process? What is the appx expense in each surgery?

Anonymous said...

I am 34 years old and I was born without a fibula and ankle (right lower leg). I never had any surgeries. I do wear a leg brace up to my thigh and I do not need a wheelchair or any assistance. I live a very active life with two healthy children. As a child I was constantly told that amputation was the best choice for me. I completely disagree and I'm glad that my parents let me make my own choice. I have no regrets what so ever. Most people can't even tell that I wear a leg brace. I can even walk without it... even though the right leg is shorter than the left. The only thing that I've missed out on is wearing high heels lol.

Lucy Graham said...

Hi everyone, hope you're all well today. I was born in 1979 with FH in both legs. My mother also has the exact same condition. It popped up with her out of the blue and the docs said when she was trying to get pregnant that it was definitely not genetic and so the baby would be fine. However, out I came exactly like her. Docs then advised her to have no more children as they would absolutely have it and my sister came out just perfect. My mother was advised to amputate but as she knew what she was dealing with she refused, however, I know this isn't right for everyone. I wear artificial legs but can walk without them around the house and such. I have had 3 surgeries on my ankles and knees because of the lack of stability. I'm currently travelling around SE Asia and while it's not the easiest thing in the world it's exciting and challenging. I'm not as up on the current treatment as Emily sounds like she is (excellent blog btw Emily) but am happy to chat to anyone that would like to about it. lucycoral@hotmail.co.uk

Anonymous said...

My name is Drew Doxtator came to this earth in 1993 Patient of Shriners hopital for Children, I'm now 19 years old and I was born with Fibular Hemimelia, Type3 complete absence of the fibula and Lucky to be born with all my ligaments and toes besides my fibula. My parents went with limb lengthening procedure. I had multiple surgeries before the initial lengthening, at the age of 10 was my first Fixator.The lengthening went well and worked , but in my particular case that didn't fix my mobility and deformity , I have serious arthritis is in Left ankle and I wear a AFO and a 1 1/2 inch lift on my left shoe,my leg below my knee is tender and small with a lot of painful pressure points, my leg and mostly my Foot. I go through Pain all day with casual walking and can't participate in contact sports or exercise right, both of my knees very seldom are in pain and I believe it's from the length discrepancy. I'm now considering amputation and prosthesis If there's anyone else that's experienced with such surgeries and has had amputation later after all been done, please share I'd like to know more about other peoples personal choices after limb lengthening, Feel free to Join facebooks Fibular Hemimelia Support groups too !

Unknown said...

Hai Scott, our baby was 1 month old and she too have the same problem as of your baby have. Can you please tell us what is the treatment undergone for your baby and how is she right now? Thanks srilekha1.k@gmail.com

Anonymous said...

Hello my son is 3months old and was born missing both fibula bone in his legs, they couldn't see it while I was pregnant but now I'm having to make a decision on amputation below the knee and I know it's a very hard pill to swallow but I really think I'll make the right decision for him. Their wanting to do the surgery when he turns 1 years old and now that I read a few of you guys stories I think I'm gonna do the surgery because if you look at it like I saw someone say he'll have to go less pain and have more ability to walk with his prosthetic legs and build up his upper body strength I'm asking for you all to pray for us and this my 1st baby too Im really nervous

Emily Lloyd said...

I absolutely think that's the right decision, and that your son will thrive. I will pray for you both.