Benjamin Patrick Larrick was born on September 19, 2007 at 7 lb. 3 oz.  He was two and a half weeks early and seemed perfectly healthy except for some jaundice.  On September 22nd we went to his first doctor’s appointment.  The nurse practitioner who saw Ben wondered if he might have Menkes Disease, due to the characteristics of his hair. We were devastated.  Ben seemed perfectly healthy to us and we had only had him for three days.  How could there be something wrong, we thought.

We were sent to Children’s Hospital in Washington, DC to see a geneticist a week later.  It was agony waiting to find out, wondering if the love of our life was sick.  The geneticist who saw him was encouraged by the fact that his hair wasn’t kinky under the microscope.  We’d have to wait a few days for the blood results, but we were happy with this fact.  A few days later the call came and we were elated.  The copper levels were normal.  However, even more waiting was to come; it would take 4-6 weeks for the full genetic report, but the geneticist was pretty sure that we could breathe a sigh of relief.  We did, for sure!

We had all but forgotten about Menkes until the fateful day, October 30, 2007.  Our world came crashing down.  The geneticist from Children’s Hospital called to tell us that Ben’s genetic testing came back positive for Menkes Disease.  We went to NIH the next day and spent the scariest Halloween ever with the doctor.  We were given the copper and sent home with heavy hearts and little hope.

 We started working with a PT, OT, speech therapist and special educator once-a-week to keep him thriving…and boy did he!  It was clear to us by 6 months that the copper treatment seemed to be working.  Ben started sitting up, grasping toys, rolling over and showed signs of communication.  Then, by a year old he was standing with support, playing with his friends, and beginning to use sign language.  Sixteen months was Ben’s “golden month.”  He started pulling up to stand and crawling!  More milestones were ahead! Sometimes there were several milestones all at once and sometimes they were few-and-far-between.

In 2 ½ years of his life, Ben has never had a seizure (knock-on-wood).   Besides the common cold or the flu, he has been completely healthy.  Ben has reached all major milestones at this point.  He still has a long way to go, and has more things to learn and become more developed in. But he can walk unsupported, stand independently, crawl, and push himself forward and backward on a push car. He began saying his first words in January of 2010, and his vocabulary is growing everyday, he also uses sign language to communicate.   Ben amazes us daily with his adorable personality.  He is always smiling and laughing and happy.  Everyday he becomes stronger, smarter and more lovable.

We realize we may have a little miracle on our hands and feel overwhelmingly thankful to God for this.  We hope that only good things are in the future for our Ben and we feel so extremely proud and lucky to be his parents.

Proud Parents,
Dave & Kim

Posted: February, 2010