Megan's March With MPS 6

Living With Maroteaux-Lamy

On March 31st, 2003 Megan Rose entered this world with a smile on her face. If I knew then what I know now, some things would have been done A LOT differently! You see when Megan was six months old her family and I started questioning some of Megan's facial features and her legs. The bridge of her nose was broad and had a purple marking accross it that some days would be more pronounced then others and for some reason her legs never went completely straight. Her Doctors always gave us some cockamammy bull crap about oh its nothing, she'll grow out of it and so on and so forth. Never the less we continued to question it. Then she developed a hernia on her belly button. Oh this is normal too her Doctors would say. Well if they had the training and the know how they would have listened to a Mothers Intuition and put the three together but the never did.

Fast forward to July of 2006........

Megan fell out of my husbands and my bed ( I know I know kids should never sleep in the marital bed some may say but some may also want some sleep sometimes so...LOL) Well after a couple of hours we decided to take her to the ER at Indian River Memorial in Vero. Thankfully God smiled on our family that day and Megan walked away from the incident with a small skull fracture and a referral for a Geneticist. Okay now back track to the ER. Megan was treated by a PA named Lisa Miller (we love you Lisa) and though she was concerned about Megan's head she also noticed something else. She noticed the odd shape of my daughters hands and her fingers. She asked us if we had ever thought to take her to a Geneticist. We said no and explained about the questions that had always plagued our minds. She called in the Physician on call for a second opinion. This other doctor will remain nameless for they were ABSOLUTELY no help. This Dr. X said that a geneticist would be of no help and said all was well we could go home. Well we decided to follow Lisa's advice.

The next day I called Megan's Family Dr. and practially had to beg them for a referral. They reasoning was that Megan was fine and we were worrying over nothing. In the end I got the referral. I took Megan to Dr. Patricia Wheeler at the Nemours Clinic in Orlando. After about 10 minutes in the exam room she had an answer to our questions. MPS Type I she said or rather Scheie's Syndrome is most likely what is going on we'll order a special urine test to measure her GAG and then we'll go from there. About one month later Megan's test results were in. She did NOT have MPS I it looked like she Had MPS VI. Other wise known as Maroteaux-Lamy Syndrome.

The Story Continues....