MY LITTLE STAR WAS BORN WITH MARCUS GUNN JAW WINKING SYNDROME AND SEVERE PTOSIS

MICHAEL..MY LITTLE STAR!

 

DOB: 06/25/04

Marcus Gunn Jaw Syndrome with Severe Ptosis

Mom Linda,  Snowbunnies1979@aol.com

Our Little Star

 

Michael was born 6/25/04 at Sisters Hospital, Buffalo, New York,  receiving care from SUBURBAN PEDIATRIC GROUP. So, I had nothing to worry about, right? At 3 months of age, Michael was diagnosed with MARCUS GUNN JAW WINKING SYNDROME and SEVERE PTOSIS...by my "MOTHER". This diagnosis was confirmed on September 13.  He was almost 3 months old.  When Michael was born his left eyelid did not open.  I was concerned and after the delivery I asked Dr. McDonald (my OBGYN) about it and she suggested, not being a pediatrician, that sometimes that happens after birth but it should get better on its own. I asked again later that day... she said the same thing.  I expressed my concerns (which also included a broken clavicle) to  Jean A. Marfurt, MD (one of Michael's pediatricians) that same morning, who claimed this eye issue was not uncommon.  Then, when he was 2 days old, I asked Marjorie R. Pepe, MD who replied 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 at SUBURBAN PEDIATRICS. Naturally, because his eyelid was more than half way closed, I was still concerned. She responded that it was just ptosis and it will get better with time. I also noticed that when he sucked on a bottle his one eye winked with every sucking motion...others started noticing it too.  The staff of Suburban Pediatric Group seemed burdened and kept telling me that he just had ptosis and that it would "fix itself"... Finally, when Michael had his one month appointment with the Marjorie R. Pepe, MD, I, again, asked about his eye.  Dr. Pepe told me that she didn't believe it was necessary for Michael to be referred to-or be evaluated by an eye specialist. However, after numerous concerns expressed by me (and by my mother contacting these physicians daily), in addition to consulting renown Theodore Putnam MD, and most specialists in the US, Canada, and Europe),  I was finally given some names of pediatric ophthalmologists... Dr. James Reynolds and Dr. Steven Awner.  I called both and tried to get an appointment.  Dr. Awner's office offered me an appointment  in January and Dr. Reynolds, in October. I, then, received some frightening research from my family...It was August, so I demanded that little Michael get an earlier appointment which was scheduled Sept 13, 2004.                                       **It was on Sept 12th at 11 pm when I received a call from my mom with the DIAGNOSIS!  She had been researching little Michael's eye.  Exchanging emails back and forth among Doctor after Doctor, she received an email from a Dr. Daniel Schaefer in (coincidently) Buffalo, NY, telling her that he is not in the habit of diagnosing over the internet. However, because the description of symptoms are unique, He was pretty sure that Michael  suffered from Marcus Gunn Jaw Winking Syndrome and Severe Ptosis. He emphasized that "...if the pupil of the eye is more than 50% covered "all of the time", sight will be lost; "If you don't use it-you lose it". I had no idea.... Ding DING!!!                                                                                                                                           **Well, the diagnosis seemed to be correct...This was also Dr. Reynolds' diagnosis.  He then explained how now I needed 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. Possible associated problems???Yes..                                                                                                    

 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.  I guess that the nerve that works his jaw also makes his eye move. There is an abnormal innervation 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...but in that way the nerves no longer innervate... However, this makes the lid drop completely, so then, They must tie the muscle to the brow in order for the brow muscle to control his eyelid.  

 ***The more research I did-The more another worry stuck in my head...NEUROLOGICAL!.  Neurological? Did Michael need to see a neurologist? YES! Michael Cohen, MD, Chief of Neurology at Buffalo Children's Hospital was contacted. Dr. Cohen evaluated Michael right away. His main concern was the severe ptosis, confirming the necessity for treatment. As far as the MGJWS- It could wait and assured me that with proper treatment "My Little Star" would be fine. He was greatI!! It was time to find the very best Ophthalmic Plastic and Reconstructive Surgeon in the world...James Katowitz, MD at Will's Clinic in Philadelphia, PA. After consulting with Dr katowitz, it was decided that we would proceed with Ptosis correction placing MGJWS surgery on hold. Little Michael had severe Ptosis (a droopy eyelid.) 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  high probability that if I just let it go that his vision would be permanently impaired in that eye.                                             It was during the flight back to Buffalo that I realized, Having no medical background, what could have been??   What a great asset Michael and I have...Family and Friends in the Health Care Profession...  However, the greatest asset of all is: HAVING FRIENDS AND FAMILY WILLING TO PUT THEIR LIVES ON HOLD TO HELP MICHAEL GET THE THE VERY BEST CARE HE NEEDED   And so, knowing that Michael will have the very best care set the surgical plan is in motion. When it comes to our loved one's, WE NEED ALL OF THE HELP WE CAN GET!!!  I hope that my story can help others.                                                                                                                                        The following article was the most helpful.  It is a very long, complicated, and specific article... but when I read it I had my medical dictionary right next to me. http://www.emedicine.com/ent/topic97.htm

• http://www.emedicine.com/oph/topic608.htm

• http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=961806&dopt=Abstrac  

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• These are just some of the articles and sites that I have found to be helpful.  I have called Doctors all around the US to get information.  I wouldn't say that I am an expert by any means. However I have definitely done my research.  Another good site to look up is MUMS.  They offer a great support network.

  http://www.xanga.com/private/home.aspx Here is my Blog about Michael if you are interested in checking it out.