Friday, August 19, 2011

Andrew's Story

Andrew was born 9/18/2007 weighing a healthy weight of 7lbs 14oz.  He was a beautiful baby boy.  Andrew was perfect in every way and was the completion of our family.  He has a brother, Matthew, and a sister, Emily.  We left the hospital with our 'healthy', precious little Andrew. 

By the time Andrew was two months old, he came down with a cold that he couldn't get rid of.  By the time Christmas came he had developed severe reflux and RSV.  He was hospitalized the day after Christmas.  Little did we know that our precious, healthy baby boy wasn't so healthy after all.  He continued during his first year with eczema, allergies, bronchial infections, ear infections, and tonsilitis.  He was diagnosed with hypotonia (low muscle tone) at his one year check-up.  Other delays were also noted at that time and we were referred for early childhood intervention services. 

 It became even more evident that there was more going on than we realized during the second year.  He had 2 more hospitalizations for pneumonia and a severe case of tonsilits.  He had other tonsilitis infections and 2 cases of the croup during that year as well.  Andrew's development seemed to be at a stand still.  His delays were more obvious and were significant in comparison to his peers. 

At his two-year check-up he was referred to a neurologist.  The neurologist suggested a MRI along with genetics testing.  The MRI came back normal, but the genetics did not.  We were not prepared for what the geneticist told us.  He told us that Andrew had a rare chromosome disorder.  They said in fact, we have never seen this before.  We were told that he has a deletion on chromosome 16 on the short arm of p at 13.3.  They continued to tell us that they don't know what kind of affect this is having on him or what to expect in the future.  Andrew is the only case with this particular deletion and phenotype that is known.  We left feeling more confused than when we had arrived.  

Over the next year his development remained significantly delayed with no gains in many areas.  His heel chords became tight and was fitted for AFO's (ankle-foot orthotics/braces).  He went through additional MRI's and many other tests.  Our happy little boy was becoming less happy and began experiencing more tantrums than he was happy.  His beautiful smile was being seen much less often.  He was displaying OCD behaviors as well.  Andrew has the communication level of a 12 month old.  My little boy that I bragged on to so many about how he was so easy was becoming very difficult to manage.  He had always slept so good and would even put himself to sleep was now having more and more difficulty with his sleep.  I took it upon myself to go back to his neurologist.  She diagnosed him with Autism and ordered a video EEG.  To my surprise, he had 5-6 seizures during his sleep and was waking him up.  They were lasting about a minute.  I felt horrible as a mother that my child had been having seizures all these months that he had not been sleeping.  There are many day to day struggles having an almost 4yr old who can't communicate and requires the daily living care of a 1yr old. 

Andrew's Diagnosis' thus far:

  • Rare chromosome disorder
  • Autism
  • Hypotonia (low muscle tone)
  • Epilepsy (seizure disorder)
  • Asthma
  • Allergies (environmental/food)
  • Reflux
  • Tightened Heel Chords
We are very proud to call Andrew our son and wouldn't trade him for anything.  He truly is a gift from God.  He has taught us so many things already.  We ask others to please keep him in your prayers!!  We are currently seeking services for him and pray that we are able to get him some help.  He is in desperate need of many therapy services that our insurance will not cover and we are trying every avenue to get him the help he needs to make a difference in his future.  I created this blog to show the rewards and the hardships of raising a child with so many special needs, to raise awareness to others as well as help those who may be in similar circumstances.  This blog will also show the reality of the situation and how it's affecting not only Andrew, but the entire family.  It helps to know that you're not the only one out there.  It is my faith in Christ that has brought me this far, and I know that is what will carry me through this difficult journey! 
I can do all things through Christ who strengthens me. Philippians 3:14


  1. Amy, your writing is so beautiful. It truly shows your love for your family. I do believe that this blog will help others, in this day in age there are so many with problems not knowing where to turn. Your faith in Christ could show them there is an answer. We can handle ANYTHING with/thru Christ, we just have to take the first step, and that is the hardest. Keep up the good work.

  2. Amy you need to see a shriner & have them refer you to the shriner's hospital in Greenville, SC. If you don't know one let me know, I may be able to help. Chad was diagnoised with central hypotonia when he was 8. The were a God send. It is a long drive but well worth every mile. Always look for the positive & keep your faith in God and you can conquer this. Alot of people are thinking and praying for you. Remember this any time you feel low to give you the boost you need to continue on your journey.

  3. My 11month son just came back with the exact same deletion

  4. I am a member of a group on Facebook who have children with 16p 13.3 deletions. You are not alone. Thank you for sharing your struggles.