How it all Began...

Megan was born 6 days late on August 3rd, 2003 weighing just 5 lbs 15 oz, 19 inches long.  The doctors assured me that Megan was fine being so little, but as her mother I felt unsure.  As I watched Megan's growth over the next few months  she seemed to be slowly getting bigger so I wasn't too concerned.  Around six months of age I stopped breast feeding and started her on a bottle.  That was when I discovered how little she actually drank.  Her weight began to drop on the percentile chart ... from 10th to 3rd ... to 1st in a matter of a month.  Her pediatrician wasn't worried, but I decided to get a second opinion.  The second pediatrician ran a few blood tests which came back abnormal.  He referred me to a GI Specialist.                                                                                      

The rounds of tests begin...

The GI Specialist took one look at Megan and mentioned acid reflux.  He heard a heart murmur that no one picked up before, and advised seeing a cardiologist.  He also suggested having a geneticist evaluate her.  He ran a series of blood tests covering everything from organic acid studies to thyroid abnormalities.  He also ordered an Upper GI to get an x-ray of her GI anatomy.  I left there wondering what was going on.  I was frightened to say the least.

Megan's first BIG challenge...

Although her  blood work came back normal, the Upper GI did not.  It was a complete shock to us to learn that Megan had malrotation of her intestines.  That meant that during gestation her intestines did not lay correctly and therefore could easily become constricted causing severe intestinal damage -- and possibly death to her in a short amount of time.  They scheduled major surgery that same week!  Turns out this wasn't the cause of her not eating, but fortunately it was found on the x-ray.   The surgery was very difficult on us all, however Megan did great for an 8 month old baby!  I knew then that Megan's problems were much bigger than just not eating.  I wasn't sure where we were headed.

9 months of searching, but still no answers... Megan's development was becoming more and more delayed the older she became.  We needed a diagnosis.  We were able to begin therapies through "Babies Can't Wait".  The geneticist took every test that seemed to exist, but still there were no answers.  It was a relief to see normal results, but at the same time it wasn't because we wanted an answer.  A neurologist did two brain MRI's that revealed nothing.  We needed to know why Megan was having so many difficulties.

How we got our answers... In what seemed to be the last resort, Megan's geneticist decided to have a muscle biopsy done.  This was evaluated by Dr. Schoffner here in Atlanta.  Luckily, we live in the  city with the best resources to evaluate this disease.  The muscle biopsy required an out-patient surgery.  It was difficult deciding to put Megan through this procedure, but we knew we needed to.  Since we still didn't have answers to why she didn't eat, during this procedure Megan's GI doctor inserted a Ph probe to evaluate the acid reflux and also had an endoscopy done taking biopsies of her esophagus, stomach, and small intestines.  Needless to say, it was a long and difficult day for Megan.  The GI studies  confirmed severe acid reflux and some mild damage to her esophagus. 

It took 2 long months to complete the muscle biopsy studies ... but we finally got our answer.  Megan has a mitochondrial disorder.  It was not the answer we wanted, but we needed to know so we could help her. 

Now that we had a definite diagnosis, the geneticist was able to prescribe enzyme supplements and medications.  These, along with the reflux medicine,  really seem to be helping her.  We are very glad we found out what her underlying issue is causing all of her health problems and difficulties.  It has enabled us to help Megan be the best she can be.  

To anyone out there searching for answers like these...don't give up.  God will lead you to find it if there is something to be found.

We are very blessed...

Megan is an angel.  Everyone that meets her melts when they see that precious face and her bright blue eyes.  She is perfect to us and brings joy to our lives everyday.  She has been a trooper through all of the tests, procedures, and surgeries.  It has been a long road in such a short amount of time and we are very busy with doctors appointments and therapies.  She is wonderful and spirited through it all and she inspires me. 

God made her the way she is and chose us to be her parents.  I am lucky to be her mom.