The Journey Begins

Our story starts on one of the happiest days of my life.  The day our beautiful daughter, Reagan, was born.  The first year of her life, we enjoyed watching her grow, develop, and hit milestones of rolling over, sitting up, crawling, and walking.  She always seemed to be on the latter end of the typical developmental window, but she was born 4 weeks early, so we always contributed it to that.  She started going to daycare 2 days a week at 5 months old.  She soon had her first cold.  What we didn't know is that the congestion and fluid in her ears wouldn't clear until late spring of the next year.  The constant cold was considered "typical" for the first year of life.  We had a couple months over the summer when she was clear of cold, thank goodness, but by October, all the congestion and constant fluid was back.  Antibiotics didn't seem to clear it up, so by early February, we went to see the ENT.  Reagan is 23 months old. After her initial exam, the doctor told us that he would definitely recommend putting ear tubes in and getting her adenoids taken out, which is what we expected.  Then he dropped the bomb....he said due to her symptoms, and the fact that she has "coarse facial features" and didn't really look like either of us (her parents), he wanted to refer us to a geneticist.  I'm not sure what my husband and I looked like after that news, but I'm sure my jaw about hit the floor.  We definitely did not expect news like this.  Of course my mind started racing and so I tried to get more information from our ENT, but since this wasn't his area of expertise, we didn't get much more info.  All he could say was that he didn't think it would be "life-changing".  Boy, was he wrong.  No offense to our wonderful ENT.....I joke now that I don't know whether to hug him or hit him, since it was because of him that we got our diagnosis.  Joking aside, we are very thankful that we did find out early.  We now have time to research and fight for a cure to save our daughter.   Time is a gift right now.

Anyways, we took Reagan to see a geneticist, but both my husband and I pretty much felt we were going just to rule out any crazy suspicions of our doctor.  We still felt we had a healthy typical almost two year old.  To make a long story short, the geneticist said that there was a huge array of things we could be looking for, but that we should at least rule out the worst case scenario- MPS disorders.  Thus, Reagan received X-rays of most of her body that day, and we went home feeling confident that the worst case scenario would be ruled out soon.  The next day we got the call that the X-rays looked "suspicious", and all the testing began.  We endured the longest two weeks of our lives waiting for the blood test to come back.  One rainy afternoon, we got the call that Reagan had MPS IIIA.  I was at work when I got the news.  Luckily the day was almost over, so I immediately turned off my computer, walked downstairs to tell my colleagues I would need a couple of days off, and drove home to tell my husband.  I felt like my world was caving in.