You can't catch me!

Today I received an unexpected phone call. Our genetic counselor called. For those of you that don't know, Logan had Exome sequencing started in October of 2012. Basically his DNA is being analyzed looking for a genetic defect that would explain our medically and developmentally mysterious child.

The first tier was analyzing about 4,000 genes. These are genes that have been discovered and defined and if someone has a mutation, it is generally understood. For example, it can find out if someone has a genetic marker for Alzheimer's or a specific cancer gene.

We were told recently that our results would not be back in May this year as planned. Well guess what, the first round is back and we came up with blanks. Ugh! No answers...nothing...seriously! Why are all tests so "normal" but our child is not?

Now we move into the "Clinical Diagnostic Exome"...analysis of 20,000 genes. These genes are essentially uncharted territory. We know they are there but they remain anonymous as to what they relate to.

"This is the most comprehensive option clinically available on the market. This test includes analysis and interpretation of coding regions (exons) of virtually all genes in the human genome (~20,000 RefSeq genes). This option includes whole exome sequencing for family trios and analysis and reporting of novel gene discoveries. Co-segregation analysis is also included." (http://www.ambrygen.com/exome-sequencing)

The target date for completion is October 28th 2013. Yes, it will have been a whole year we will have waited. It sounds bananas doesn't it! My child has an elusive disease! We have already named it the Logan Syndrome! Why not, at least we can try to convince ourselves that we know what it is, something unique and rare. It is Logan! 

So the game of cat and mouse continues. Maybe someday we will catch the mouse! Until then, we live. It is what it is! But don't let me fool you, it is painful and frustrating. It breaks my heart to see my handsome helpless child suffer day in and out. 

Suffer, yes I said it. I do feel he is uncomfortable on a daily basis. He is in a body that won't move the way he wants it, he cannot speak his needs, and almost every swallow he makes shoots saliva into his lungs. Have you ever been drinking water and you choke on it? Then you cough, your eyes water, and your throat hurts. That is because it went down your airway. Logan does this every day, all day and is unable to control it. It sucks!

I know a diagnosis will not fix the problem. We have known that all along. We are already on the path of supportive measures to prevent illness, increase comfort, and aide in activities of daily living. That is what all parents do, we just do it in a different way and the rewards come slower than a snails pace. So diagnosis or not, we will carry on. 

Someday I may have a post to share that will have answers. That day may be joyous or possibly devastating. It may provide no comfort or may bring peace of mind. I feel at this point, that pursuing answers is to benefit our daughter Lauren. We want her to know that if she chooses, she can have a family of her own someday and know if there is a chance her child could have the "Logan  Syndrome".

I am out of new pics so I thought I would share an old one from December 2011

April medical update

I haven't posted a medical update on Logan in a while. Logan has been awesome! We are almost four months out since discharge from the hospital. The tracheostomy was truly the right decision. He has had a couple of colds since leaving the hospital but all have been treatable at home.

We have some big plans for Logan in May. He is going to have surgery. His ENT is going to remove four major saliva glands. This was a procedure that was planned last November but it all changed when he got sick. So now the surgery is back on the table. We need to get his secretions under control. You know it's bad when your suction machine can't hold a charge!

The last Wednesday of May will be the day. Logan will have the surgery and then an MRI. We have planned both at the same time so that he does not need sedation twice. It will be a long day and I plan that he will be in a lot of pain for the first 24 hours. He will be in the hospital for a few days.

I am hoping we will have his MRI results quickly. I don't want to get my hopes up that we will have the results while he is in the hospital. ENT will be the admitting team and neurology will have nothing to do with it so most likely we won't hear the results right away. It seems odd, but this is the way the system works.

I am more nervous about the MRI than the surgery. Seems a little odd doesn't it! I am scared that the MRI will be abnormal. At the same time, an abnormal result means we may be able to understand what is going on with Logan. I want to know what is causing my child's disability but I am so scared to hear the truth. Ignorance helps us get from day to day. Answers could be devastating. I know it is only a possibility and that answers may bring us peace. Unfortunately, the ER nurse in me thinks of all scenarios both good and bad.

In the end, the MRI results may be as normal as the rest. We may wind up in the same place we are today. That leads me to the other team looking for a diagnosis...genetics. Logan's exome sequencing of his DNA will not be back in May as planned. I think I have blogged about this previously. The lab is behind as it is inundated with samples from many people. For now, we wait. This is something easy to wait for as it is not on our radar on a daily basis. It is still frustrating to wait, so it better be worth it!

For now, we are braving what is hoped to be the last snow storm of the year. Minnesota has had some whacky weather. We started our morning with thunder and then had a boat load of snow come down. 

I hope you enjoy some pics of Logan in his Batman sunglasses! We are gearing up for spring regardless of what it looks like outside. 

First outdoor outing of the year

We made it outside for the first time this spring! It was 45 degrees, sunny, and very little wind. Logan  didn't seemed bothered at all. It is so hard to know when he finds joy in an activity, but we definitely know when he doesn't like something and those signs were not apparent. He was calm and looking about. He does tend to look at the sun which we definitely don't want so an attempt at sunglasses was made but pretty unsuccessful. Looks like we are going to have to rig an umbrella up to the chair. If any blog followers have good ideas on how to accomplish this please leave a comment on the blog. 

Lauren was excited to have Logan with her and we even took him in the backyard. It was tough to maneuver past the doggie land mines! Joel has some work to do! His chair got stuck once in the soggy grass but otherwise the outing was uneventful. I can't wait to do this every day. I am on the hunt for parks adapted for children with disabilities. I know there are a few in the Twin Cities. 

Spring has sprung and here we come! 

Go Twins!

Go Minnesota Twins!

Logan and Joel are watching the season opener of the Minnesota Twins in our warm cozy living room. Meanwhile, the team and fans are playing in 30ish degree weather. Yikes! That's Minnesota for you. I can't wait to be able to take Logan to a game this year. Last summer we didn't have the wheelchair. This year we have so many more options and the stadium has great handicapp accessability. In the meantime, Joel will continue to fill Logan's afternoons and evenings with baseball and hockey!

Logan also had a great afternoon of finger painting. His nurse Cora was so sweet to bring him finger paints and she was so brave to take on the project. Better her than me, I get a little too anxious over messes like that! He seemed to enjoy it. He didn't get agitated by the paint on his hands or his face! By the end he had paint on his cheeks, his tracheostomy nose, and up to his elbows. Into the bathtub he went for a hose down.

It was so nice to see Logan participating in an activity that kids his age do. It is so easy to see him as a baby and forget that he needs to involved in two year old activities too. We can adapt many things for him with a little creativity. It is also great for Lauren to see him playing. She is so great at encouraging him and she sits and talks with him as they play and cheers him on. She is the best big sister he could ever have. 

Easter

Easter 2013

Brrr!

Here in Minnesota, Easter was a cool, sunny, and breezy day. No easter egg hunt outside for Logan. Boo! 

We had a great day with lots of family at the house: Nana, Papa, Cousin Madelyn, Aunt Chelsea, Aunt Michele and Uncle Jeff, Cousins Colin and Matthew, Uncle Pat, and Great Grandma Phyllis. And of course Logan's nurse Karla.

The house was busy and buzzing with noise. Logan tried on some bunny ears and looked mighty handsome even though they were pink!

Logan and Aunt Michele

Lauren found a golden egg for Logan

Those are real daffodils from Nana. A fresh reminder that it is spring despite the snow that remains on the ground!

Lauren had a great time and she wore a dress and had piggy tails (she is a bit of a tom-boy)

We ended the day planting a garden in the easter egg container

Easter Eggs

We spent the evening before Easter dying eggs. It is a yearly tradition. Logan wasn't really up for dying eggs but Lauren and Cousin Madelyn sure were. We ended up with some very bright and colorful eggs. The girls are great artists.

February/March Photos

Here are some random photos from February and March....