HSP 47

Molly has always had low muscle tone. It was first diagnosed as Benign Congenital Hypotonia, a general diagnosis given when they don't know what is causing the low tone.  More on that here... She receives physical, occupational and speech therapies since her gross and fine motor skills and speech are delayed. This takes up the majority of our week, but she has continued to make so much progress. As a parent, seeing your child hit each milestone is exciting, but with Molly, it feels like a weight is lifted each time - a mix of pure joy and relief. Molly is currently nearing 2 1/2 years old and is finally on the verge of walking and we couldn't be more excited! I feel like I always say this, but this little girl is so determined; a trait I hope she never loses. 

Since she was diagnosed with hypotonia, we've been searching for a more accurate diagnosis. The way this is done is through genetic testing. As I mentioned in the hypotonia blog post, we started with the Genome Wide Array, which tested Molly's chromosomes.  This testing did not find anything, which was a big relief for us, but still left us with questions.  We decided to move forward with the next level of testing which required Kevin and I to also participate. This testing is way more in depth and took 6 months to come back.  

Right before Christmas, we had our routine check-up with Molly's neurologist.  She was asking if the results had come in yet, being as it had been 6 months since testing.  At that point, we had not heard anything, so after multiple phone calls I finally received a call stating Molly's results had come back and there were "findings consistent with her condition," but didn't say what they were. The woman I spoke with stated that the geneticist would not be able to see us for another 6 weeks and wanted to know how I felt about that. I just waited anxiously for 6 months for results and now I had to wait another month and a half. I obviously was not happy and on top of it all, my mind of course was racing at what the results could be.  Luckily, we already had an appointment with Molly's pediatrician the next day.  I told her what was going on and she was beyond furious. She was on the phone before we even left the office and as a result I received a call from Molly's geneticist that night.  He was very apologetic at how the situation had been handled and also spent time explaining what some of the results were.  

First he mentioned Molly's macrodactyly and said the PIK3CA gene is involved in that, but it was not related at all to the hypotonia - something we already were pretty sure of. At that point, it seemed like I was on the phone with him for an eternity just waiting for the results relating to the hypotonia. When he finally got to it, I was told there were gene changes in 4 of Molly's genes.  He said 3 out of 4 didn't seem relevant, but the one they were looking at was the AP4B1 gene which is thought to be associated with a condition called Hereditary Spastic Paraplegia (HSP) and he believed Molly had "Type 47."  He mentioned that only 7 other children in the entire world had this particular diagnosis documented in medical journals.  7 kids... in the world... He said this is typically an adult-onset disease. This was a lot to take on and in the moment, I tried to ask him all of the questions I had swirling in my head.  I wanted to know what this meant in terms of her development.  He indicated that she will go from having low muscle tone to high muscle tone, almost resembling the spasticity seen with cerebral palsy.  After hearing paraplegia, I asked if that meant Molly will be paralyzed.  He said at some point it may be hard for her to move. He also mentioned that in terms of future pregnancies, we have a 25% chance of having another child with this condition. If I were to get pregnant again, he mentioned that we could do amniocentesis or CVS testing at around 12 weeks to determine if the baby will have the same genetic issues.  He said that I would have the option to abort if it did.  I'm sorry, what? Have you seen Molly and all that she is doing and all the happiness she brings to everyone she comes in contact with? It made me angry to hear this, but also made me wonder what we are in store for if this is really an option they present. He said the other option I had was to do in vetro fertilization with pre-implantation genetic diagnosis.  It is basically IVF where they would do genetic testing prior to implantation.  

After all of this, he said that this was the diagnosis they were leaning towards, but a clinical evaluation was also necessary. We had that appointment scheduled for January 6, 2016.  

We didn't actually get to see the geneticist that we had been seeing as he was out of the country and in order to get a quicker appointment, we agreed to see the Fellow working alongside him.  She had seen Molly prior to this appointment so we felt comfortable having the appointment with her. Joining her was a genetic counselor who actually did most of the talking. Going into the appointment, Kevin and I were optimistic. I think we secretly hoped that what the geneticist had said over the phone was a mistake.  We thought they would look at Molly and see how far she had come and look at all of her progress reports and say they were wrong.  That didn't happen.   A lot of what was said over the phone was reiterated.  However, she did share some new information: 

-This gene location (47) was only discovered in 2012.  

-There are over 50 types of HSP, each numbered based on when they were discovered.  

-Most of the known cases of HSP 47 come from consanguineous families, meaning people decending from the same ancestors.  We were kind of shocked to hear this.  We know that Kevin and I obviously are not related, and not that we needed confirmation, but they did confirm this by stating the genes Molly received from each us are of two different variants. 

-Kevin and I are both recessive carriers of this gene mutation, again giving any future children a 25% chance of getting HSP.  

-Between 2 and 5 years old is when the change in muscle tone will occur, going from hypotonic to hypertonic/spastic.  

-By 10-14 years of age is when they said the spasticity will become severe enough where Molly will likely need a wheelchair.   

-When the spasticity sets in, botox injections may be used to relieve the tension in the muscles.  Somewhere between 60 and 70 injections will be needed, requiring Molly to be sedated. Botox has a 3-4 month effect so it would need to be repeated that often.

-Molly will be followed by a neurogenetic team consisting of a neurologist, geneticist, a PT and an OT.  

Leaving the appointment, we were obviously devastated.  It was almost as if we had to go through the process of having to grieve the loss of the child we thought we were going to have.  It took a while to process everything that we were told and after reading the 4 research articles that exist, this diagnosis just does not seem to "fit" Molly, nor are we going to let it define her.  The kids we read about have severe intellectual delays, seizures, do not talk, walked around 3-4 years of age; all of which does not match Molly at all.  The hardest part has been the lack of research and evidence on this disease.  When you are given information based off of 7 others, it is very hard to label Molly the same way, especially when similarities lack.  It has been almost 2 months since our appointment and we are still trying to be as optimistic as possible.  We look at Molly and celebrate all of her accomplishments everyday!  Since our appointment, she was accepted into a research study at the National Institute of Health in DC.  We are hoping for some more answers there.  

Here is a recent picture of Molly from when we were in Disney World a few weeks ago.  She was so happy to have her walker there - she was running down the sidewalk with it! 

As hard as this has been, I just keep looking at this beautiful girl and know she will prove everyone wrong. She is strong and determined and will not let anything get in her way of achieving anything she wants.  We do things a little differently than others and that is ok with me.  Here is one of my favorite poems that truly explains what it is like to have a child with special needs. 

We are definitely enjoying Holland.

Surgery

The day we left for Boston had been an emotional roller coaster.  We were so happy to see both of our families to celebrate Easter and have a nice send-off for Molly, but our sweet cat, Bo, unfortunately and somewhat unexpectedly passed away two days prior which made me that much more emotional.  Then after about 5 hours of driving, Molly became car sick.  There we were on the side of the highway - Kevin changing Molly on the front seat and me scrubbing her car seat and trying not to lose it. We finally arrived in Boston late that night after a very long ride! 

Molly's mom-mom and cousins snuggling her before we left. 

We had our pre-op appointment Monday morning and I was very nervous going to the hospital.  It all started sinking in at that moment.  All of the research we had done, all of the doctors we had seen, the insurance battle, all of the questions and doubts and uncertainties lead us to this point.  As confident as we finally were in the decision we had made, it was still a life-changing decision we were making on behalf of our daughter that will affect the rest of her life. Even though we were in Boston, two days away from surgery, I still asked Kevin if we were doing the right thing.  He reassured me that we were. 

We met with Dr. Kasser to discuss details of surgery.  It was determined that he would remove her second toe, including the metatarsal bone that runs through her foot (ray resection). He would debulk as much excess tissue as he safely could from the bottom of her foot, without compromising blood supply. He also mentioned that the toe flexor in her big toe seemed weak which was causing the toe to point upward.  He suggested a possible partial amputation of her big toe as well.  We both immediately said no - we had come to Boston with a plan - a plan that we had finally accepted as the best course of action for Molly.  We were not prepared in any way to make such a significant decision right before surgery, especially since there is a chance it can get stronger, in which case a partial amputation would not be necessary.  We agreed it was best to watch and see how it develops.  

He then informed us that he happened to have another macrodactyly patient that had an appointment with him that day as well.  We were so excited!  Although we have been fortunate enough to have connected with about 15 families online throughout the world with a child with macrodactyly, we would get to meet a girl, in person, who has it!  How lucky were we!  (Side note: I heard that there are estimated to be approximately only 500-1000 cases of macrodactyly WORLDWIDE). That just illustrates what the odds are that we had an appointment on the same day as another patient!  I cannot say enough about how lucky we were to be able to meet her, but first we had to finish all of our pre-op appointments which included blood work, X-rays and meeting with the anesthesia team.  While we were waiting for the anesthesia appointment, we were approached about donating any extra samples from the surgery to Boston Children's Hospital's Bio bank.  They would use it for various research studies as needed.  During the anesthesia appointment, we had to go over every piece of medical history starting from my pregnancy.  This was definitely a time-consuming task as a lot has happened since then.  One thing that the anesthesiologist questioned was when I informed her that Molly's genetic's doctor from CHOP felt that it was necessary to put a malignant hyperthermia precaution in place, something typically reserved for people with neuromuscular disorders. Even though Molly did not have an official diagnosis, as we were (and still are) awaiting test results, he wanted to err on the side of caution.  The anesthesiologist we met with said she was not necessarily going to be our anesthesiologist on the day of surgery, but she would relay the information to the others; however, she said not to be surprised if the anesthesiologist that day disagrees - apparently the malignant hyperthermia precaution is not something that is commonly done, especially without a formal diagnosis. 

After all of our appointments, we finally went back to the orthopedic department to meet the macrodactyly patient.  We walked in the room and were greeted by a 17 year old girl and her mom.  Her mom started crying as soon as she saw Molly's foot because she said it brought back so many memories of her daughter at that age.  We just hugged and cried and she told me she knew exactly what we were going through.  Our connection was immediate and we had so much to talk about.  They had never talked to or met anyone with macrodactyly before.  Her daughter was the most mature 17 year old I've ever talked to and she had the most positive outlook.  She was friendly, outgoing, had participated in dance and other physical activities - something we worried Molly wouldn't get to do.  She had 7 surgeries up to that point and her foot looked amazing.  If you were not counting toes, you would have no idea there were only 4.  We talked for a very long time and it was the best thing that could have happened to us just two days prior to surgery.  They brought a sense of calmness to me that everything would be fine.  The visit was comforting and made me finally feel with 100% confidence that we were doing the right thing. They both helped us more than we could have ever imagined - it was fate that we met that day! 

On Tuesday, we had a great day in Boston.  We wanted to enjoy the day as a family and tried not to think about surgery.  We went to the New England Aquarium and went out for pizza.  

Surgery day had finally arrived.  I hardly slept the night before. I was up every hour and had a knot in my stomach.  We had to be at the hospital by 7am to get checked-in. 

Daddy walking Molly to the car to head to the hospital. 

We got Molly changed into her hospital gown and we were seen by all of the specialists that would be involved with the surgery.  It was all very overwhelming.  Each team of doctors had a specific plan for her.  The pain management team talked about the nerve block that would hopefully eliminate her pain while she was in the hospital.  Then we saw Dr. Kasser and his team, who again went over the exact plan and marked her foot.  They were followed by a woman who talked about macrodactyly research that was being done.  She had asked permission to collect samples from the surgery to be used specifically in macrodactyly research (separate from the Bio bank research).  We were very excited to hear that research was being done!  The anesthesiologist then came in and had many questions for us regarding the request for a malignant hyperthermia precaution.  Like the previous anesthesiologist mentioned during pre-op, she too questioned the necessity of it since there was no formal diagnosis, but said she wasn't going to go against CHOP's request.  The amount of medical information I gave her lead her to ask if I was in the medical field.  I laughed at that, but it made me realize the amount I had learned over the last year and a half.  Another member of the pain management team then came in to administer a liquid medication to Molly to make her sleepy since she would not be getting a mask.  Our final visit was from a woman who asked what color cast we wanted.  I think I started crying and laughing at that point because I had just been bombarded by so much information and asked so many questions, I didn't even care what color her cast would be.  Molly took the edge off of the situation as she just smiled the whole time and started getting giggly after the medication kicked in.  Just as things were getting hard, she knew we needed a laugh.

The next thing we knew they were carrying her off to the OR.  Kevin and I hugged and cried and were eventually escorted to the waiting area.  

It was unbelievable to see the amount of families in the waiting area.  We had a nurse that would update us every hour or so and we were also able to request updates.  There was so much anxiety as you saw various nurses and doctors entering the waiting area and wondering if they would stop at you.  Boston Children's Hospital really did a great job at trying to make a tough situation more relaxing.  They had a harpist playing and also had a therapy dog walking around.  Around 10:30am, the nurse came over and said they had just started surgery!  Molly was taken to the OR at 8:30am.  We were hoping they would be farther along at that point.  

Surgery ended around 12:30pm and Dr. Kasser came out to update us.  He said everything went as planned and thought we would be very happy with the results.  We couldn't wait to see her, but it took us a while before we could.  When we finally made our way to the PACU, Molly was screaming and seemed very agitated (I don't blame her)!  That was really the hardest part (besides saying goodbye before surgery).  There were two nurses by her side - one was carefully monitoring her vitals while the other was holding oxygen up to her.  The first question they had was, "Is she normally a breath-holder?"  Apparently Molly had a very tough time after waking up and that's what took so long to see her.  She was crying so hard and holding her breath until she turned blue.  No one was very happy about that.  We had to get her detailed cardiology results sent over ASAP.  I don't even remember at this point the name of the exact thing they wanted to check for, but there is some heart condition that can cause you to turn blue and they wanted to rule that out.  Everything ended up being fine and she stayed in the PACU for at least 2-3 hours until she calmed down.

First time holding her after surgery. 

Once she was stable, they moved her into a room.  It was actually right off of the PACU and not in the main hospital.  It was fairly quiet and she had her own room.  She ate immediately and the nurses were quite impressed with her appetite!

She had a nerve block in her leg until about 6am the following morning along with pain medicine and Tylenol every 4 hours.  

After only one night in the hospital, we were told that we had the option to stay another night or be discharged; however, Dr. Kasser wanted to see us Friday morning regardless.  We decided to go back to the hotel for the night so we could all try and get a good night's sleep.  Molly again amazed us by crawling as soon as we set her down!  She just had major surgery the day before and was crawling like it was no big deal, even with a full, bent-knee leg cast!  We had a quick visit with Dr. Kasser Friday morning and then we were on our way home!  

About 2 1/2 weeks later, Molly had her first plane ride up to Boston for cast change #1. This would be the first time we would get to see her foot.  Kevin and I were very eager to see what it would look like.  We were amazed at how different it looked and couldn't believe how much tissue he was able to remove from the bottom of her foot.  We were thrilled at how it looked so far.  After a quick cast change, we were on our way home.  Molly did great on the plane!

Before surgery and after first cast change!

Cast #2 - pink!

Four weeks later, we flew up to Boston again.  This time, Molly would get a weight bearing cast!  So after almost 7 weeks of not being able to stand, we were so excited for her to get this new cast. 

Waiting for x-rays to check the alignment. 

Cast #3 - weight bearing!

Finally, after another 3 weeks, the final cast was removed!  Molly did so great with this whole process and she made it much easier than Kevin and I initially anticipated.  Everyone told us that kids are resilient, but Molly really proved this to be true.  She is my inspiration and I am a much stronger person because of her. 

Final cast is coming off!

Before surgery and after cast removal

Our next follow-up appointment in Boston is in December.  The next surgery will likely be in the Spring and will focus on her big toe.

As surgery approaches..

12/6/14:  The anxiety has really set in the week leading up to surgery.  As if the stress of the upcoming surgery wasn't enough, throw in an insurance battle too.  Why not, right?  Going back and forth between our insurance company and Boston Children's Hospital has been a large hurdle to get over.  It's been an un-enjoyable game of phone tag that left us hanging at the close of business on Friday, two days prior to leaving for Boston, with the words we were fearing to hear.   "Your insurance has denied coverage for the surgery."  This is after Molly's orthopedic surgeon and pediatrician both wrote medical letters of necessity to try and prove why it is essential for us to have this surgery performed in Boston.  

Our insurance company believes this surgery can be performed in our area.  Sure, someone is probably capable of performing the surgery around here, but their experience, compassion and attention to detail were not up to the standards we experienced when dealing with a doctor at BCH.  

We did our research before we made this incredibly hard decision.  Since this disorder is extremely rare, some of the doctors we saw, at the best hospitals around here, have only seen a handful of cases in their entire career.  For example, one had only operated on a single child with this disorder.  To top that off, she said, "maybe one day there will be a 'magic pill' to fix it."  "Another option would be to remove her big toe."  

And now we're being denied services to a hospital with experience with this condition?  Sure we could take the easy route and select one of the doctors in Philadelphia, making follow-ups and additional procedures much easier and less expensive.  However, our choice was to go with the only doctor we met with that has experience with this rare disorder, even though it would mean countless hours in the car and additional expenses.  We elected to do what we knew in our hearts was the right thing for our child and chose to have the surgery performed in Boston.  We're at a standstill until Monday when our doctor will be involved in a peer-to-peer review to see if they will reconsider.  We will no longer be leaving on Sunday as there is a chance we will still be denied. 

The silver lining in this is that if surgery does not happen this week, we now get to enjoy the holidays with our cast-less, sweet girl and family and friends.  The next surgery is tentatively scheduled for the first week of January.  

I just wanted to say thank you for all of the messages and prayers.  Every one of them is so meaningful to our family and has really helped us in this journey.   From our amazing family and friend's love and support, thoughtful cards and care packages, emails from complete strangers who have gone through a similar situation, to my wonderful small group of macrodactyly moms on facebook - you have all helped me more than you'll ever know.  

Kevin and I also had some fun this week with Molly, trying to capture her feet so we will remember what they looked like forever.  Here is one of our projects.  I'm so happy with how it turned out. 

UPDATE 12/10/14:

Insurance still denied coverage after a peer-to-peer review with the surgeon.  Again, the reasoning was that there is a doctor capable in this area to perform Molly's surgery.  Her pediatrician also had a peer-to-peer review with Molly's secondary insurance and somehow got it approved!  She is a miracle worker and we are so lucky to have such a great doctor looking after Molly.  They approved to have it done between December 10 and December 24.  This was on December 9.  We now have to file an extension to push it to January.  Surgery is tentatively scheduled for January 7.  

UPDATED 12/23/14...

Kevin kept calling to make sure everything was in place and we would be good to go for January 7th.  He was told that primary insurance needs to be on board with coverage also.  We had to file an expedited appeal and are now waiting for the final verdict... 

As of 1/7/15, our primary insurance company once again denied our appeal to have Molly's surgery done in Boston. Again they said there are doctors in this area that are capable of performing the surgery and they will not cover an out of network surgery.  We wanted to get to the bottom of all of this because it seemed like we were not getting the full story from both parties.  The only reason we filed an appeal with our primary insurance company is because we were told Boston would not accept Molly's secondary insurance alone.  We were being told differing opinions from Molly's secondary insurance company and BCH.  Her secondary insurance says the procedure is approved and will be covered, whereas Boston is saying they can not run her secondary insurance as a primary insurance.  Again, we are at a standstill and are not sure what our next step is...

UPDATED 3/23/15

After months of denied appeals, Kevin and I ultimately decided that the best option for getting Molly's surgery covered would be to switch our insurance.  We got a new policy that has out-of-network benefits which allows us to travel to Boston for the surgery.  It's been a very frustrating situation, but we are happy to say that the surgery is finally scheduled (and approved!) for April 8th!  

Hypotonia

Along with macrodactyly, Molly also has hypotonia, or low muscle tone.  Macrodactyly and hypotonia are completely unrelated as far as we understand.  When she was a newborn, she was pretty floppy.  I assumed that's how all babies felt.  By the time we had her two month check-up, she was barely lifting her face off of the ground while laying on her belly.  She would scream every time we tried to do "tummy time" and we attributed it to her being uncomfortable because of her reflux.  Her pediatrician recommended we get an evaluation done by Early Intervention to see if she would qualify for physical therapy.  She did, so we started out by having a physical therapist come out to our house once a week to work on gross motor skills (January 2014).  After 6 months of therapy, we decided Molly would also benefit from seeing an occupational therapist to work on her fine motor skills, which were also delayed.  At 11 months, Molly was referred to a neurologist.  She was diagnosed with Benign Congenital Hypotonia.  It was recommended that we increase physical therapy to twice a week.  At her 1 year checkup with her pediatrician, her doctor suggested that along with our at-home therapy sessions, we should look into doing outpatient therapy as well.  Molly started outpatient therapy at 13 months and had therapy sessions (PT, OT & speech) 4 times a week between at-home and outpatient.  Since her surgery, it is now at 8 times a week - which sometimes means 2 or 3 times a day!  It's a lot, but she has made SO much progress!  It's pretty unbelievable that she started off not being able to lift her head off of the ground!  Developmentally, she's still behind, but she's continuously made progress and we're so happy about that!  Here are pictures of her in her posterior walker, which she loves!

February 2015

September 2015

So now the question is, "What is causing Molly's muscles to be weak?"  To begin to answer this question, we again visited the neurologist.  Although she was pleased with Molly's consistent progress, she expected her to be farther along than she was.  She suggested a possible brain MRI, but wanted to refer to the genetic's doctor for his opinion.  After the visit with the geneticist (March 2015), he agreed with the brain MRI and also suggested genetic testing to narrow down the exact cause if possible.  While we were there, I brought up my concerns with anesthesia during surgery.  I had heard that with some neuromuscular diseases (not that Molly officially has one), complications can arise with anesthesia.  He had asked if it was possible to postpone surgery.  Kevin and I were hesitant as surgery had already been delayed over three months; however, if it was absolutely necessary, of course we would delay it.  Thankfully when he came back in the room, he said we should put a malignant hyperthermia precaution in place, just in case, and also made us get expedited appointments with a cardiologist and a neuromuscular doctor.  The cardiologist did an EKG and an Echocardiogram, both of which were normal.  The neuromuscular doctor observed Molly move, analyzed every little thing about her and did an ultrasound of the muscles in her arms, legs and back.  From my understanding, you see abnormalities in the thigh muscles more often if there is a neuromuscular disease.  Molly's thigh muscles looked normal, but her calf muscles showed mild abnormalities.  The doctor did not think a muscle biopsy (it would be done during surgery) was necessary at this time, but possibly during the next macrodactyly surgery.  

In May of 2015, we received the results of the initial genetic testing (Genome Wide Array) which looked at all of Molly's chromosomes.  Basically how it was explained to me was that if you were looking at a chapter book, you are looking for duplicate or missing chapters.  Everything came back negative which we were very relieved about!  She was also tested for Prader Willi Syndrome and that was also negative.  We were told we could just leave it at that or we had the option of pursuing further testing due to lack of answers.  Kevin and I agreed to move forward with the next level of testing, which is Whole Exome Sequencing.  This time, along with Molly, we had to give our blood samples (June 2015).  This testing is way more in depth than the previous testing.  Again, it was explained to me that instead of looking for "missing or duplicate chapters," they are looking for "misspelled words."  For example if it's supposed to be "xyzxyzxyz" and it says "xyzxyzzx."  Basically someone is looking at each of our 22,000 genes to determine if there is a genetic cause to anything going on with Molly.  So as of now, we still don't have any answers, but hopefully by the end of the year we will!

Where do we start?

After coming home from CHOP, when things finally settled, we began our research.  It didn't take long to really comprehend how little information is out there on this rare condition.  Of course we made an appointment with an orthopedic surgeon at CHOP, but we wanted to explore every avenue possible.  We had that appointment in February of 2014.  We were very much looking forward to the appointment being that it was our first one and we were hoping, I guess, to hear there would be a "miracle fix."  The doctor had only had experience with 4-5 cases of macrodactyly in his entire career.  We walked away disappointed as we were not overly confident in his experience and surgery was only briefly discussed and would be discussed in greater detail once X-rays could be done.  X-rays were not recommended until August as to not expose Molly to too much radiation.

We continued our online searching and did find a blog of a mom who also has a daughter with macrodactyly.  Her toes looked just like Molly's!  We decided to contact her.  She was so nice and helpful and gave us some insight into the research she and her husband had done.  They were living in Germany at the time and their daughter had her surgery there; however, they shared with us some U.S contacts they had gathered.  We had a place to start.

Based on her recommendation as well as our own research, we made an appointment to visit with an orthopedic surgeon at Boston Children's hospital.  We took the trip up there in March, 2014.   Again, we were anxious for this appointment, especially since we drove over 6 hours.  There was a waiting room full of patients waiting to see this particular doctor.  We had one of the earlier appointments so thankfully we didn't have to wait long.  He spent about 45 minutes with us, getting to know us, letting us ask as many questions as we had, and made us feel totally comfortable.  He said there really isn't an option to leave her toes as they are.  He brought up the point that people will notice toes that look out of place, but are less likely to notice a foot with four toes that look "normal."  He discussed surgery in greater detail and said there would be 3-4 surgeries.  They would include a ray resection of her second toe, tissue debulking of the underside of the foot and epiphysiodesis of the big toe (fusing the growth plates to stop/delay growth).  His experience includes seeing 1-2 patients per year with macrodactyly.  He mentioned to us that the mutated gene that causes macrodactyly has been identified, but they don't know why it happens.  By the time we got home, he had emailed us a picture of a patient with a similar diagnosis.  The outcome was better than we had anticipated.

Although we were quite happy with the option we had just heard, we wanted to be sure to see as many doctors as possible.  We headed to Nemours Hospital in Delaware and Shriner's Hospital of Philadelphia.  The doctor at Nemours had only done one macrodactyly surgery in her career.  Although the doctor at Shriners typically sees 1 case of macrodactyly per year, he seemed too nonchalant about it.  Neither really blew us away.

Our research continued online where we found a few people through either our blog or the website limb differences.org.  The people that we've "met" who either have macrodactyly themselves or their children have it, have gone above and beyond to help us.  We were able to Skype with a woman from the UK who has macrodactyly of the hand.  She's a professional harpist, believe it or not!  She was so nice and really gave us reassurance that Molly would be ok and would adapt no matter what.  We also talked to a woman from Australia whose son has macrodactyly on two toes.  She gave us SO much helpful information and also opened our eyes to the notion of having the surgery done by a plastic surgeon.  I had wondered prior to our conversation if the orthopedic surgeon would work cooperatively with a plastic surgeon, but hadn't thought of just getting an opinion from a plastic surgeon alone.  She said since the condition largely affects the tissue, it's more of a plastic surgeon's specialty.  Her son had his surgery by a plastic surgeon and it looks great and he is running and playing like anyone else.  She gave us the plastic surgeon's contact information.  He works for Royal Children's Hospital in Melbourne, Australia.  We were able to talk to him via email and he suggested ray resection and debulking as well - same suggestions as the other doctors we had talked to. 

In August 2014, we revisited with a doctor we had previously seen and he suggested that we talk simultaneously with him and the plastic surgeon he works closely with.  I was very excited to hear this and we got an appointment with them both for October.  The plastic surgeon explained that they would make two 'v' shaped incisions on the top and bottom of Molly's foot just below her second toe. They would remove her entire toe (phalanges and metatarsal).  They would also debulk some of the tissue on the bottom of her foot.  They would not be able to debulk a lot of her big toe tissue during this surgery and also talked about a possible future partial amputation of her big toe.

After much thought and discussion and feeling like we've exhausted all options, Kevin and I felt most comfortable with the doctor in Boston.  Surgery is scheduled for December 10.  We both have very mixed emotions about this and this decision has been the most difficult decision either of us has ever had to make in our lives.  We hope that Molly one day will understand that we had her best interest in mind throughout this whole process and feel that this is the best option.  

What is Macrodactyly?

Macrodactyly is a very rare, overgrowth disorder of the underlying bone and soft tissue (nerves, fat, and skin) in ones fingers or toes.  Macrodactyly affects the fingers/hand more often than the toes/foot.  It usually only involves one hand or foot, but typically more than one digit on a hand or foot is affected by it.  There are two types of macrodactyly:

•Static macrodactyly - when the affected fingers or toes grow at the same rate as the unaffected fingers or toes.  They will always be larger, but grow at a consistent rate. 

•Progressive macrodactyly - when the affected fingers or toes grow at a faster rate than the unaffected fingers or toes. 

Macrodactyly is congenital, meaning you are born with it, although it is not inherited. 

Macrodactyly causes a person's hand or foot to be abnormally large and in turn can be cosmetically displeasing.  In most cases, multiple surgeries are the only option in helping to make the hand or foot improve in function and appearance. 


*This is not intended to be a diagnosis.  The information listed above is the information we have gathered from various doctors and research we have done.*

She's here!

After 30 hours of labor, Molly was born on September 15, 2013.  It was the most amazing day of our lives.  As soon as she was placed on my chest, I looked over to Kevin and said, "She's so cute!"  It was as if no one else in the world, but the three of us, existed at that moment.  As they took her to the opposite side of the room to get cleaned and weighed, Kevin yelled over to me, "Ange, her toes!"  As much as I worried after the initial ultrasound that showed her toes, it didn't even bother me when Kevin mentioned it at that moment.  She was perfect and we were so excited to welcome her into our family. 

When we finally got settled, we still had no idea what the diagnosis was.  My OB even called another doctor in to check out Molly's toes.  He had never seen anything like it and didn't give any type of insight.  I think that's when we started to realize how uncommon this really was.  The next day, we were visited in the hospital by Molly's pediatrician.  It was our first time meeting her.  She too had never seen toes like Molly's, but took a picture and sent it to a doctor she knew at St. Christopher's hospital.  

Of course, I started googling and gave my own name to this.  It was called macrodactyly from the very limited information I gathered.  So now we had a place to start.  Or so I thought...

We had a very tough time with Molly after bringing her home from the hospital.  She was very fussy, very floppy, and didn't take too well to breast feeding.  We tried breast milk in a bottle and she still wasn't very interested in eating.  At first I thought this was typical newborn behavior, but then Kevin and I started to get worried.  On day 4, Molly had her first check-up.  We shared our concerns with our pediatrician and brought a bottle to the office with us.  She tried feeding Molly, but the milk just poured out of her mouth.  The tears then poured down my face - I knew something was wrong.  She had lost 12% of her body weight and was still looking jaundiced.  With that combination, plus our doctor not knowing if her toes had some kind of connection to all of this, she urged us to go immediately to CHOP.  

We arrived at the ER and Molly was taken back right away.  Since my water had been broken for 24+ hours, the ER doctors and nurses tested her for infection.  It was definitely the most scared I've ever felt in my life.  Watching your baby lay there helplessly as she was being poked and prodded was not easy.

 We finally reached our limit when they did the spinal tap.  They could see how upset I was and escorted me and Kevin to a family room and gave us some food.  After they did the work-up and started her on three antibiotics, they broke the news to us that she would be admitted to the NICU.  While she was hooked up to the monitors, Molly kept dropping her heart rate and oxygen levels.  Now the doctors had to figure out why she wasn't eating AND why she wasn't breathing properly.  One doctor was convinced she had some type of obstruction in her airway which was not allowing her to eat and breathe at the same time.  She had a feeding tube placed to ensure she was getting enough nutrients. 

Long story short, it seemed as though the doctors were doing different tests to eliminate the major concerns. She was tested for everything under the sun and all results were negative.  She saw pulmonologists for a sleep study, speech pathologists to fit her for an appropriate bottle, she had X-rays done by plastic surgeons because they thought her jaw was too small, and saw a neurologist for an EEG of her brain to confirm there wasn't seizure activity.  She really had everyone confused because multiple doctors said that she was acting like a premature baby, even though she was full term.  The neurologist suggested that since I had gestational diabetes, she could've been deprived of some essential nutrients which was causing her to act like a preemie.  An orthopedic doctor and a genetics doctor looked at her toes briefly, but weren't concerned at the time due to the other issues going on. 

Once we found the right bottle for her, she began to eat on her own and the feeding tube came out!  She was also started on caffeine to stabilize her breathing.  She ended up being diagnosed with mixed apnea.  CHOP was our home for two weeks; the longest and hardest two weeks of our lives.  We are so thankful for our AMAZING pediatrician who sent us here because in her words, "this is bigger than me."  

We're outta here!

And now back to the macrodactyly...