NEWS!!!!

I can hardly stand it.....  I got a call Monday around 11 am from the genetic counselor that we work with at the U of U.  She left a message since I was swamped and couldn't answer my phone right away.  When I had a moment around 3 pm I called her back.  When she finally returned my call I was speechless.  I was nervous since in her message she said that she had some news.  I think I was anxious but who wouldn't be in my shoes when you know nothing.

She goes on to tell me that they had found two mutations in Rhett and Dylan's NEK1 gene.  She said that I have one and my husband has one and so does Nikole and Gavin.  But in Rhett and Dylan they have two.  As she was talking to me I was instantly researching online what I could about what she was telling me.  LOL!  You can tell me but I will do my homework and have lots of questions later.  She said it is called "Short rib-polydactyly syndrome type 2".  I was excited to have some information that I have been waiting years for.  She said this info came on a research basis and it might have to be done through a lab whatever she said after I don't remember.  I think I was excited since this was coming from a blood draw that was done like 5 years ago!  I know can you believe it they have had our DNA for 5 years and finally we are getting info.... oh wait they have had our DNA since Rhett was born that has been almost 15 years.  Geez!

So I put NEK1 in Google search and found this, "Short rib-polydactyly syndrome 2A (SRPS2A): A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length.

That is GREAT!!!!  I totally inserted sarcasm there can't you tell?  Yes I wanted info but now I have more questions and really big words.  Crap!! I hate big words, and no they don't scare me I just hate them. Anyway (got off on a tangent) as I was talking to the counselor that was going over the above info I asked her if anyone else has what my boys have.  She said that she would like permission to present my boys at a conference or convention that they were going to in Tennessee coming up here soon with pictures and everything else in hopes of finding someone that has seen another child like my boys.  I told her that would be great I would just like to make contact with someone in my same shoes.  I know that I know a lot of people that have several things that are life threatening but I would love to talk to someone who is in my shoes.  I think that is because I often times talk to myself and it would be nice to hear another voice. HA HA HA....  Oh I am funny at times.  As I wipe a tear from either grief or silliness.

I often times just smile and laugh since it is easier than crying.  But there are times that my heart just hurts knowing what I know and having to just stand and watch my children suffer.  I wonder what it is like for all those other parents that lost a child at a very young age before they could voice all the pain they are going through.  My heart breaks for those parents.  I have had great joy and sorrow in the almost 15 years since I had Rhett.  I have had the blessings of hold him for a long time and exposing many children to people with disabilities since my child has one but is not treated like he is different from anyone else.  Yes just because he is small or can't breathe very well doesn't make him exempt from chores like laundry, dishes, garbage or any other chore I think my kids need to do.  If he is having a hard time breathing I make him take a breathing treatment and then make sure he is getting enough oxygen and then he gets to do chores.  I must be such a mean mom. Wah ha ha ha.... I totally inserted my evil laugh there.  But it really hard to hear your child voice that "it hurt to breathe", "it hurts right here on my side", "why is this happening to me?", and many more things.  I feel like I have no answers and it sucks because I can't ease any pain that those boys go through from this disorder.

I wanted everyone to know the news that we got.  I know I need to update on everything else but right now things are crazy between work and home that I am barely able to get some of the things done that need to be done.  I hope to update the first of April with more info since this is only the tip of the iceberg.  I will have more info the first of April.