Now that we have a diagnosis, what comes next?

You know, it's funny how you can imagine the way you would act or feel once you finally get a  diagnosis for your kids, but you never quite know until you look back on it.

Well the first thing I did was call my husband and tell him.  Then there was this silence in the air that made everything perfectly still.  What do I say?  What do I do now?  I look at Luke and Lane, they are smiling and playing like always.  Somehow we end the phone call. 

"Cohen Syndrome," I said.  They don't know.  When will they know?  When will they understand?  I know A LOT about it, I researched it for hours.  And I talked to families who have children with Cohen.  I see their future in little snapshots racing by.  But it is not how I imagined it at all.  From the time I knew we were having twin boys, I thought, "WOW!  Three boys, they will get to be on the same baseball team some years!  All three of them!  This is so exciting!"  I talked to Darrell about it, and he said, "Yea, I will always have fishing and hunting buddies too!"  

Everything was changing, plans, priorities, feelings.  Is this right?  Is this what God wanted for them and for us?  So many questions.  

Darrell and I talk about it when he gets home.  Darrell said, "All I want is for them to be able to have a family like I have, and live somewhat on their own.  Is that reaching too high?  You know more about this 'Cohen Syndrome' than I do." 

"I don't really know for sure, but from what I have heard, no I do not really think they will live on their own, but remember anything is possible."  Keep it positive, Amanda.  You know that is the "right" answer.

Still crushed.

Days go on.  Friends with children who have CS call for support.  "If you have any questions, please ask."  But I  am at a loss for words, I know I have questions, what is wrong with me?  I talk to friends, and keep it positive, I know what I "should"say, and I do feel that way sometimes, but then I think about the reality of it all.  Time keeps passing by, doesn't ever slow down.  Not really saying much, just thinking.  I am going over charts and time frames in my head; the average age to walk-2-5 years, so that means potty training will follow after that...really that long it may be 5 years or more? 

And then one day, I "wake-up."  I hear a laughter so genuine and infectious!  I start laughing before I even know what is going on.  I turn the corner, and Andrew is running down the hallway and Luke is crawling as fast as he can after him,  laughing so much he has a "flat tire," and has to stop for a minute, but he keeps laughing.  And then the chase is on again!  I start crying and laughing!  I am so excited!  How could I have been so narrow-minded?  These precious kids are showing me what to do.  Andrew is playing chase with his little brother, and Luke is playing and looking up to his big brother just like they should.  Andrew isn't worried that they are behind in their milestones, he just wants to play.  He is not planning how to help Luke stand, so he can run after him.  That is the way it should be.  

Embrace.  I knew I had to embrace this, to make it better for Luke and Lane.  I also knew I still had to plan and focus on getting them to reach their milestones, but the first thing I had to do was accept all that was given to me.  I thought I had already done that, but I guess I hadn't until that moment.  Like I said, "You never quite know for certain what you will do in a situation until you are able to look back on it."  And even though I will choose to embrace this, I will not surrender my hope for my boys.

Job 11:7-9;13-19   HOPE

7 "Can you fathom the mysteries of God? 

       Can you probe the limits of the Almighty?

 8 They are higher than the heavens—what can you do? 

       They are deeper than the depths of the grave  —what can you know?

 9 Their measure is longer than the earth 

       and wider than the sea.

 13 "Yet if you devote your heart to him 

       and stretch out your hands to him,

 14 if you put away the sin that is in your hand 

       and allow no evil to dwell in your tent,

 15 then you will lift up your face without shame; 

       you will stand firm and without fear.

 16 You will surely forget your trouble, 

       recalling it only as waters gone by.

 17 Life will be brighter than noonday, 

       and darkness will become like morning.

 18 You will be secure, because there is hope; 

       you will look about you and take your rest in safety.

 19 You will lie down, with no one to make you afraid, 

       and many will court your favor.

Embrace destiny.  Hope still.

 

Introduction to my kids.

Andrew is my "Towb."  When I went into labour with Andrew we called my mother-in-law who was studying for her Sunday school class, and in her lesson she felt like God was telling her this grandson was "towb."  

The Hebrew root word of towb means to be good, beneficial, well, pleasing, pleasant, favorable, fair, cheerful, happy, comfortable, right, fruitful, precious, prosperity, fine, glad. Paul gives the best definition of towb in Philippians 4:8: "Whatever is true, whatever is noble, whatever is right, whatever is pure, whatever is lovely, whatever is admirable..." 

Andrew is not perfect by any means but surprisingly this little message of "towb,"  has stuck and seems to describe him rather well.   He is my oldest, five years old.  He is very smart, and outgoing.  Andrew has a way to make you really think, and wonder just what is going through that little head of his, he amazes me all the time.  He is hilarious to say the least.  He makes me laugh constantly, sometimes I joke and say God gave me Andrew so I would always be entertained.  He is a very special kid.  

Luke and Lane are my twins and one, well, two of the main reasons I began this blog.  On February 13, 2006 we found out we were having twin boys!  WOW!  We were speechless.  Literally.  We were only planning to have ONE more.  Oh well, like I always say, "There ain't nothin' to it but to do it!"  Luke and Lane were born June 16, 2006, they were 3 weeks early but they were also considered full term for twins. 

They were the most pleasant babies.  I never thought I would hear them cry, so that made having twins a little easier than I would have thought.  :)

Time passed, and they were not hitting their milestones.  They were not sitting or holding their head up good. The pediatrician said, "Don't worry just yet, I believe they are behind because they are twins." Just before they were one, we went to a pulmonologist at Emory in Atlanta. He didn't even talk about Lane's breathing, he just called other doctors in and said, "This is a floppy baby." I had no clue what he was talking about. He said they had low tone and needed physical therapy. So we started the therapy. At twelve months they could hold their head up good, but they could not sit alone. They would not bear weight on their feet, much less stand. They were not crawling at all. 

I knew something was not quiet right. Everyone around me was saying, "Don't worry they'll catch up." But I knew they were not exactly like other kids. 

We got a call from the pulmonologist and he referred us to a neurologist. Many tests were done. We ruled out a lot of things. One chromosome test took 10 months to get back and it pretty much told us that they were "all boy." (Thanks! Like we didn't already know that!) I was pretty mad about that, they doctor explained to me this would show any genetic problems they may have. So I believe she ordered the wrong test. 

They we were referred to a genetic doctor at Emory Genetics in Atlanta. He decided to do a metabolic study on one of them and a DNA Micro Array analysis test on the other. Eight weeks later Erin (genetic counselor) called and said, "Luke has a 'tiny' deletion in a gene commonly known as the CoHN1 gene. And because of their physical and mental qualities I believe this may just be your answer. But we will have to conduct one more test and send it to Maryland to be totally positive."

So of course I look it up on the Internet, read everything I can find. Try to find someone who is going through the same thing. "Cohen syndrome..........Cohen syndrome." What does this mean for my two little guys? Should my husband and I tell everybody we have a diagnosis? Or do we say, "We have an answer now, it explains their developmental delay." And just leave it at that.... My problem is this, I don't want to put labels on them. We don't know just how mild or moderate this tiny deletion is yet. 

So that is where we are today (Sept. '08).   We will go to the doctor next week so send their blood off to Maryland and I think it takes about twelve weeks to get it back.

I believe the sky is the limit for Luke and Lane and I want to do what is going to benefit them the most. 

Update: February 2, 2009
We got a confirmed diagnosis on both of our boys over these past few months. And we did decide to tell our family and friends (as some of you already know) because we realized that label or no label it will not change who our boys are, they are very special. And we wanted to try and help other families find a diagnosis as soon as possible, because it can go undiagnosed forever if you do not know what to look for and sometimes "who" to talk to. We hope their story will help other families in any way possible.