What is Ectrodactyly? An overview.

When I first found out that my baby would be born with ectrodactyly, I was devastated and shocked.  But mostly, I was scared and and uncertain of the future.  A lot of questions wandered around my head.  How bad would my sons hands and feet turn out?  what would they look like?  How did he get this condition?  What would my son's physical limitations be?  What would the doctors be able to do for him? 

Well the way I dealt with this was to do as much research as possible.  Throughout my life, whenever I have faced a major ordeal, I have responded by learning as much as I could about the problem.  'Knowdledge is power' as they say, so I like to face my problems by being well informed.

It turns out that ectrodactyly is rare and kind of hard to find a lot of information on.  If you google "ectrodactyly", you are likely to see a lot of links to medical freak-show type websites, Bree Walker, and complicated scientific research papers on genetics. But I did the best I could and this is what information I could get from different resources.

Ectrodactyly is a Greek word that literally means abortion of a finger.  A different website states that ectrodactyly translates to "monstrous fingers".  The medical definition of ectrodactyly is the congenital loss of fingers or toes.  A more common (and recognizable) nick name for ectrodactyly is "lobster-claw syndrome", as hands or feet affected often take the shape of a claw.  Ectrodactyly has also been known as split-hand or split-foot malformation.  Another more specific scientific term for the condition are the initials 'EEC', which stands for ectrodactyly, ectodermal dysplasia, and facial cleft syndrome, naming three features associated with the condition.

The most typical presentation of ectrodactyly occurs in the hands and/or feet.  It involves the absence of the three middle digits, leaving a large cleft down the middle.  This gives the hand and/or foot a claw-like appearance.  



My son's right hand, which only has two fingers


Ectrodactyly can also occur in other variations.  Sometimes, only one or a couple of digits can be missing, with or without the cleft.  In other cases, hands and/or feet can actually have extra digits or webbing.  (By the way, the presence of an extra digit is known as syndactyly.)


 In the past, doctors have typically tried to repair and close the cleft in attempt to give the hand and/or foot a more normal appearance and a narrower shape.  Now, doctors are realizing that such surgeries might be unnecessary and can actually cause lost of functionality and movement.

For example, my son has two fingers, a thumb and a pinky.  The orthopedic surgeon told us that if they closed the cleft in the middle of his hand, he would lose the opposing thumb.  He would not be able to pick things up or grip things with that hand anymore.  Hand prosthetics are also unnecessary and would only get in the way.  We were told that children are very resilient and learn how to adapt, often times turning their "disability" into amazing abilities :-).

Both of my son's feet are affected by ectrodacyly.  He only has one toe on each foot and his feet are positioned upside down and backwards. Ectrodactyly can cause deformities in other bones, as well.  This is what happened with my baby, as his right femur (thigh bone) is misshapen too.  It is dramatically curved up, causing his knee to be rotated to the side.  The doctor told us that both of his feet will need to be amputated when he is six months old, so that he will be able to learn how to walk on prosthetics by the time he turns one.  At this point, we are not sure how his right femur will be treated. We are waiting for the specialist to tell us if it can be repaired surgically or if that whole leg will just need to be amputated.

my sons legs.  Notice how his right thigh bone is curved up.






Two boys with ectodermal dysplasia

Earlier, I mentioned that Ectrodactyly is sometimes called EEC syndrome for ectrodactyly, ectodermal dysplasia, and facial cleft syndrome.


 Ectodermal dysplasia is the absence of sweat glands causing a variety of skin and pigmentation problems.


 



Cleft palate (a split in the upper part of the lip and mouth) can also be associated with this condition.


A small percentage of people with ectrodactyly also have some level of hearing loss.  Interestingly, I have been partially deaf since birth.  All of my extremities are normal and deafness is my only symptom of ectrodactyly. My father has ectrodactyly and I didn't realize I had inherited it from him until my son was born with it.  I had always thought my hearing loss was a separate random condition.    But apparently, I do have it and I have a 50% chance of giving it to my offspring. 

This brings us to how ectrodactyly happens. It is a very rare condition and only 1 in a 100,000 children are born with it. It is usually a genetically inherited condition, as in one parent passes it down to their child.  However, ectrodactyly has occasionally been known to occur spontaneously even when neither parent has it. Most commonly though, it runs through the entire family and can be traced back for several generations.  It affects families of all ethnicity from all over world, including Asia, the UK, south America, Africa and the US.  Even some animals can have ectrodactyly.

 Well, ectrodactyly does run in my family.  My father has it and  several of his brothers and sisters (my aunts and uncles) have it, as well.  But neither their father or mother (my grandparents) have it and we are not sure of which generation started it.  I am the only child of my father and mother, his first wife. My only symptom of ectrodactyly is the deafness.  My father has ten other children with his second wife and the majority of them are affected to varying degrees.  Most of my half-brothers have it in their feet and several of my half-siblings have hearing loss. One of my brothers was actually affected in the same way as my son and he also had to have both of his legs amputated.

So there you have it. A little information on ectrodacyly and how my little miracle is affected by it. 






  



And it came to pass.....

So, let me take some time to explain how our little miracle came to pass.

As I talked about in my first post, I have a beautiful five year son named Bentley.  My pregnancy with Bentley was a surprise, not an accident, but not exactly planned either.  Brian and I had started living together and within a few months, I fell pregnant without even trying.  It was a pretty easy pregnancy except for some preterm labor in the last couple of months.  Still, Bentley was born full-term and perfectly healthy, with all ten fingers and toes.

Brian and I loved being parents.  We enjoyed our little family and Bentley was the best thing that had ever happen to us.  Soon, we started thinking about adding a new addition.  We wanted Bentley to have a little brother or a sister who wasn't too far apart in age.  We decided to have another child and we began trying for one when Bentley was about a year old.

I figured that I would easily get pregnant again, but it was not the case.  Month after month passed of trying and nothing was happening.  I would feel nauseous one morning or be a day late with my period and my hopes would go up. But there was always just one line on that pregnancy test, time and time again.

Years went by.  A doctor told me I had endrometriosis and that was why I couldn't get pregnant.  So I underwent surgery to try and clear out some of the endrometriosis lesions in the hopes it would help. Afterwards,  I still couldn't get pregnant.  A few years later, I had the same surgery again and this time the doctor flushed out my fallopian tubes.  Even then, nothing. 

 It felt like all these other women around me kept getting pregnant without any extra effort and having these beautiful babies.  Yet, there I was, desperate and always with just that one negative line on another stupid pee stick.   I couldn't afford fertility treatments, but I figured if I just kept trying, I would have to get pregnant some day.  It happened once, it had to happen again, right?

Finally, after five years of effort and infertility, it finally happened.  There were two whole lines on that pregnancy test!  I can't even begin to describe our excitement and joy.  We started talking about names and making lists of things we would need to prepare for the new baby.  We wandered around the baby aisles at walmart, checking out all of the cute little baby clothes and toys. 

Then a few days later, I was getting ready for bed and there it was.  I had started bleeding.  Not a little spotting, but full on bleeding.  I frantically called the doctor, scared for the worse.  Sure enough, the next day at the doctors, an ultrasound showed an empty uterus and a blood test revealed that my pregnancy hormones were too low. As I had feared, I had had a miscarriage.

What can I say, it absolutely crushed me.  I was beyond depressed and I couldn't stop crying.  I would be in the middle of a grocery store or having a conversation with a complete stranger and just break into tears.  A month later, I got pregnant again and had another miscarriage within a few weeks.  It was a very dark time for me.  I gave up for awhile and stopped trying to get pregnant.  I would get to a point where I would feel better about things, but then I would see something that would remind me of the babies that I had lost and the hurt would come flooding back.  Even to this day, sometimes I think about it and still tear up, even now after I finally have my baby.

Almost a whole year passed and I was done.  I figured I needed to focus on the family and child I already had.  I toyed with the idea of adoption, but it seemed too complicated and expensive.  I didn't want to actively try for a pregnancy anymore, I just couldn't deal with the heartache.

Then one day, out of the blue, I started praying.  I'm not a very religious person, but I found myself suddenly talking to God.  I prayed the whole day.  I begged God for a baby.  I said to God "OK I'm willing to give up if another child is just not the plan for us.  But if it is, please dear God, give me another baby now because I just can't take this anymore and I am at the end of this rope."

The next day, on a whim, I grabbed another pregnancy test and it came back positive.  After another eight weeks of tense waiting, an ultrasound showed us what we had prayed and hoped for, a beautiful loud heartbeat.  Day after day went with no tell-tell bleeding.  Then I hit that golden twelve week mark where we all knew this pregnancy was here to stay and we were finally going to have that new baby.  We were getting the addition we needed to make our family feel whole.

Through faith and prayer, our little miracle had finally come to pass.

Who am I?

This is my very first post, so it's time to introduce myself.  Hello, my name is Tiffany.  I am a thirty year old woman who lives in Arizona with my husband Brian and my two sons.  I have two full time jobs, but only one job that pays. :-) Besides being a mom, I work as a med/surg nurse in a large hospital.  I've been a nurse there for three years and before that I was a nurse's aide for a very long time. 

My husband and I met 8 years ago and were married 3 years ago.  Our first child, a boy named Bentley, is almost six years old and just started kindergarten.  Bentley was a surprise, but he was an absolute joy and a blessing.  He is perfect in every way and was the best thing that could have ever happen to us.

Well, so far I sound pretty boring, right? Just another mom out there doing everyday things. So why am I writing this blog?

This blog is about our own little family miracle.  That miracle is our new little one-month old baby named Brodie.  Why is Brodie a miracle?  Well, Brodie only has two fingers on his right hand. But more than that, both of his feet and his right leg are severely malformed.  When I was only 23 weeks pregnant with him, we were given the news that Brodie would have to have a double leg amputation before his first birthday.

 Did I do drugs during my pregnancy?  Thanks for asking but No, my new baby boy has been diagnosed with a rare condition called Ectrodactyly.  Ectrodactyly is a hereditary genetic condition also known by the nickname of "lobster-claw" syndrome.  This condition causes limb deformities, most commonly missing fingers or toes. 

Why would I want to blog about this?  Well, when I first found out about my baby's condition I was devastated, scared, and anxious.  My first reaction was to scour the web for information.  I found lots of technical and medical information, a few support groups, and a lot of charity groups for children with limb differences and amputations, but still there was a void.  I wanted to know what it be like, what it would feel like, to mother a child with limb differences and physical handicaps.

This is when I found a blog that really helped me.  The blog follows the mom of a little boy who has a limb difference, a missing left hand.  I read the whole thing, from the first to the last post, and I really related to her and her experiences.  It helped me begin to accept my child's condition and see his future more optimistically.

That is the purpose of this blog. I want to be there for other parents whose children have physical handicaps of whatever nature. I want to put my own experiences with this out there and tell of all of the ups and downs that come with this journey so that other people who feel the need can share and relate.

Thank you for reading this and spending some time with me in my world.  Up next, a post about how my little miracle came to pass.