Tuesday, September 11, 2012


Well, today we got a call from the geneticist.  Well, the counselor for the geneticist.  She informed us that Ephraim's lab work came back and that there *is* a genetic "issue".  At this time, because we know very little about what it is, what it means, etc, we aren't sharing too much info.  We go back to the geneticist on Monday to discuss the details.  Eric and I have already begun doing some research on what we know so far, and are going to try to come up with a list of questions and concerns to ask while we are there. 

Over the last 2 years, I have known there was something "special" about Ephraim.  Really, over the past nearly 3 years.  I don't know if I have mentioned it before or not on here, but I have known from day one of my pregnancy with him that the child was going to have a very different and very special life.  I don't know how or why.  Call it mother's intuition, call it nothing, either way, I knew.  In my heart I knew that I would be taking him to appointments galore, helping him with basic skills that most people take for granted, etc. 

Over the last year or so, it has become a little more evident to others around us.  It has been slower for some than others, but finally people were realizing that maybe there was something different about E.  Still, very few people believed me as I insisted there was something that would one day be diagnosed.  My thought was a possible ASD (Autism Spectrum Disorder).  I have said right along that he is on the spectrum, and that if he isn't, there is something similar to ASD that he has. 

At E's 18 month WCC, we voiced our concerns to the doctor. She hadn't been his doctor for very long though so she really didn't know E well enough to see the same things we had been seeing all along.  Though, at his 2 year WCC, she said she agreed with us and wanted him evaluated.  When she found out he was already being evaluated, she was glad that we took the initiative to get the ball moving.  (I tell you what:  I am, and always will be, that mother that supports her child through everything and advocates for him (or her) to the fullest.)  Our doctor is great though, and did refer us to the geneticist at his 18 month appointment, despite not being concerned at the time.

When we finally went to his appointment last month, the geneticist said everything appeared normal from the outside, but ran blood work to check for any underlying genetic issues within his chromosomes, etc.  We had high hopes, and figured it would probably come back fine, which would just keep us on the path of evaluations for other things (such as ASD, etc.) with no real answer key.  But, we were wrong. 

You might think at this point that I would be scared.  I'm sure most people would be, but you know, it may seem weird, but I'm not scared at all. I'm a little relieved, and a little saddened, but not scared. I am relieved to know that it isn't "all in our heads" as some people keep saying.  I am relieved to finally start getting some answers so that I can understand my child better, and so that I can help others to understand my child better.  I am saddened to know that there is something genetically causing his delays and behaviors that no one can ever completely change because his genetic make up is what it is.  I am saddened to think about what this could possibly mean for his future.  But, I am not scared.   I shall have no fear of what is or will be-- I am trying my best to remember that there is no fear to be had in anything but the Lord Himself.

Oh, how I am so thankful.  I can't even begin to say all the things I am thankful for.  But for now, let me leave it at this.  I am thankful for a doctor, who though at the time wasn't super concerned, sent us to the geneticist because she knew how concerned we were. I am thankful that he is a happy go lucky kid most of the time, and I am thankful that God never gives me more than I can handle, even when I think otherwise.

Despite the sadness that overtakes me at times when I think of things that E can't do, and may never do, I am also filled with joy by all that he can do, and all that I know I can still try to teach him.  I am filled with pride to be the mother of an amazing, charismatic, charming, quirky, loving child, who I love and adore more than I could ever express.  No matter what, he is and always will be my baby boy who is PERFECT in every way. 

No comments:

Post a Comment