Our Little Star

Michael was diagnosed with Marcus Gunn Jaw Winking Syndrome with severe Ptosis on September 13.  He was almost 3 months old.  When Michael was born his left eyelid did not open.  I was concerned so after the delivery I asked Dr. McDonnell (my OBGYN) about it and she said that sometimes that happens after birth but it will get better on its own.  I asked later that day... she said the same thing.  I asked Dr. Murfurt (Michael’s pediatrician) that same morning.  Then when he was 2 days old I asked Dr. Pepe and she said that it was just a weak muscle and it will get better on its own.   When Michael was three weeks old, I asked the Nurse Practitioner, still concerned about his eye and she said it was just ptosis and it will get better with time.  Then I noticed that when he sucks on a bottle his eye winks...others started noticing it too.  The doctors told me that he just had ptosis and that it would fix itself... so I figured that was part of it.  Finally, when Michael had his one month appointment with the Doctor I asked about his eye.  Dr. Pepe told me that she didn't think it was necessary but she would give me some names of some pediatric ophthalmologists.  So she gave me two Doctors names, Dr. Reynolds and Dr. Awner.  I called both and tried to get an appointment.  Dr. Awners office wouldn't give me an appointment until January and Dr. Reynolds office tried to offer me an October appointment.  It was August so I demanded that I get an earlier app.  Which was Sept 13. 

On Sept 12 at 11 pm I received a call from my mom with a diagnosis.  She had been doing a lot of research about little Michaels eye.  Exchanging emails back and forth between Doctors.  She received an email from a Dr. Schaefer in Buffalo telling her that he thinks that Michael probably has Marcus Gunn Jaw Winking Syndrome and that he would be happy to see him.  Ding DING!!!

Well the diagnosis seemed to be correct... that was also Dr. Reynolds diagnosis.  He then explained how now I need to set up an appointment with Dr. Schaefer because they work together.  Dr. Reynolds would be taking care of Michael’s vision and Dr. Schaefer would be the surgeon.

 

So what does this mean????!!!  My son's eye winks when he sucks on a bottle.  Could their be other problems. 

ABNORMAL wiring of the 7th cranial nerve.

 

His nerves aren't wired correctly?!!

How? Why?

 

Is he going to be healthy? Is his development progressing?  Is this a sign???

 

Well, this is when I began my research.  I have read tons of articles.  So I guess that the nerve that works his jaw also makes his eye move.  Their is an abnormal innervations of the nerves.  It is a rare syndrome that seems to occur in only 5% of people with ptosis.  How do they fix it.  Well they can "dismantle" the innervations of the nerve by cutting the levator muscle... that way the nerves no longer innervate... how ever that makes the lid drop completely so they then must tie the muscle to the brow so he would have to use his brow muscle to control his eyelid.

It sounds complicated and it is.  But what happens if you don't fix it, it can dramatically impair his vision.  Can it fix itself??  Apparently not.

 

So my poor little guy.  So many things to think about.  What is the right thing to do?  Can it possibly fix itself?  Can his droopy eyelid get better and maybe the winking won't be a big deal.  Children are cruel... is this going to socially hinder him.  Cosmetically speaking.

 

This site is for my little boy.  His name is Michael.  He just turned one.  I would like to make people aware of a rare congenital disorder called Marcus Gunn Jaw Winking Syndrome.   I have lots of information and it has only been a year and I intend on gathering more.  We have gone through many obstacles dealing with this and trying to find the best doctors.  So email me if you’re interested.  In the next few days I will be uploading pictures and info. 

Thanks.  And Peace

Through all my research.  I decided not to fix the MGJW Syndrome.  Little Michael had severe Ptosis (a droopy eyelid.) So I thought that was the most important obstacle to tackle.  "Let’s get that eye open before he learns not to use it."  So far he has very good vision but there is a possibility that if I just let it go that his vision would be impair ed in that eye and he would learn not to use it... causing other problems later in life.

It has been 10 days since the surgery and it seems to be very successful.  We live in Buffalo , New York and we went to Philly to have the surgery done with the best surgeon in the country and maybe even the world.