Too Many Big Words For Me!

As always, I am not a scientist. I do my best to listen to how this is all explained to us and regurgitate it back to everyone else :) So if my terms and descriptions aren't 100% I apologize, I tried.

We went to Iowa City this week to meet with Corbin's team. We met with the research team to get him signed up to participate in the dystroglycanopathy study. While there we had him evaluated by a physical therapist. We received formal genetic counseling to give us information as far as how this disease is passed and how it may affect us if we choose to have more children. We learned amount a couple options we have if we choose to have more children in the future. We did a 6 month review with Corbin's neuromuscular Dr and discussed how things were going and developing. We also met with the physical therapist we have seen from the start in Iowa City and a member of the MDA (muscular dystrophy association) to discuss how they may be able to help us. As part of the research study, they did an ultrasound of different muscles to see how they change and develop. Our last stop was with the pediatric opthamologist. It was a very long day. By the end Corbin was beyond hungry and tired. This made the eye exam even more difficult than I had anticipated.

So the big question from everyone was what did we learn? We learned very little, but we also learned a lot. Makes sense right? The concrete good news we have is that Corbin's eyes look great. This was a big relief to us! The other stuff we learned (or didn't learn) is the not so concrete part.

At this point, we haven't received a formal diagnosis. They do believe he has one of the types of dystroglycanopathies. We learned this is a very rare form of muscular dystrophy. There are lots of types of muscular dystrophy caused by different proteins. All these proteins work together in the muscle cell. As I tried to describe before, the dystroglycan complex is responsible for attaching sugars to make the membrane of the cell strong. His dystroglycan complex isn't working correctly therefore the sugars aren't attaching. Because the membrane isn't as a strong, this allows cells to break apart and die.

The dystroglycan complex (and dystroglycanopathies) weren't discovered until about 15 years ago. Even at that time they didn't know it affect infants. To date there 18 known gene defects that cause this. In the last 2 years, I believe they said 5 of those genes were discovered. So while muscular dystrophy has been around for quite some time, this "branch" of muscular dystrophy is relatively new and rare. The study we signed Corbin up for in Iowa City so far has only 85 participants coming from all over the country as well as a couple from Canada.

The scientists in the lab are working on trying to find his mutated gene. When we did the muscle biopsy, they also took a skin biopsy. They can grow skin cells from this sample and continue to grow them as long as they need. (Pretty cool huh?!) This means they shouldn't need to take anymore DNA from him. It may take a few months for this process to complete. At the end, we may or may not know which gene still. Corbin has already had 14 of the 18 genes tested, but hopefully we find the cause. If all 18 genes check out okay, it means the mutated gene may not be discovered yet.

Until we find the mutated gene, Corbin's prognosis is unknown. We understand that even with a prognosis, Corbin is going to make his own path. He is going to do the things he is going to do. But, it may give us a sense of direction. If its a known gene, they may be able to tell us how other patients that had the same mutated gene progressed. This is why we are participating in the study. We want to help them collect data so that Corbin may help another family. There isn't a lot of information on the progression of this disease because is varies so much based on the mutated gene.

In order to help us understand this a little better, the Drs showed us slides of Corbin's muscle biopsy slides as well as comparing them to a control "normal" picture. I'll do my best to repeat how they described them.

The first picture below is of a control (regular) muscle and the second two are Corbin's muscles. Normally the cells would be similarly sized and close together. You can see Corbin has some irregular sized cells and they have a little more room between them than normal. You can also see clusters of purple. Those areas where the cell has broken apart and trying to regenerate.

This picture below is of a stain they use to look at specific proteins. In the control picture on the left you can see the green highlights the outside membrane of the cell. In the right pictures, there is areas with little or no green highlights. The pictures are the right are Corbin's. This shows that his cells don't have the correct amount of dystroglycan on the membrane.

 





I hope this helps a little bit. We don't know a lot more, but it helped clarify things a bit. Its so complex, and we will probably never fully understand it. Keep praying!

Results

We have been trying to digest the results of Corbin's muscle biopsy for nearly 10 days now. Its tough. We still don't have an official diagnosis, but we have a better lead than we have had in a year. That's right. We started this journey a year ago. It was Corbin's 6 month appointment where I expressed my concerns with his doctor. After not being satisfied with the answer she gave, we set on our journey to meet with the pediatrician. She has been our lifesaver. She was the voice for us when we had none. She got the ball rolling, and I can guarantee we wouldn't be as far with Corbin as we are without her. She got us connected with the specialists we needed and has continued to be an amazing support system.

Here is the email we sent out to our closest family last week. Hopefully I will be updating this blog again shortly as little man is 18 months now and Hal is almost done with Kindergarten! Seriously, where does time go!?

Keep praying. We have a long road ahead of us....(Disclaimer: I tried the best I could to summarize what little we have learned via a phone call. I apologize if I didn't get the scientific facts 100%)

We are beginning to feel like we take two steps forward just to take one step back. We received the results of Corbin’s muscle biopsy last night. They were much different than we had expected.

His genetic test showed that at least 1 of his dysferlin genes was abnormal, but we knew in order for this to be the answer both genes had to be defective. The answer to this question hinged on the muscle biopsy. Dysferlin is one of the proteins found in the muscle. Ironically, Corbin’s dysferlin proteins looked good in his biopsy. This means while he does have 1 gene mutated, it is not our answer. Corbin is a carrier of an abnormal DYSF gene NOT an affected person.

However, they did find a few things that gave us a new lead to track down. There is a protein called Dystroglycan. It acts as a shock absorber to the muscle. It is directly connected with dystrophin (dystrophin is the protein usually found to be abnormal in muscular dystrophy). There are two "subunits" of Dystroglycan one of which is alpha-dystroglycan. Alpha -dystroglycan is coated with sugar molecules that have to be attached for muscle to function correctly. Alpha- dystroglycan is found on many cells including both muscle cells and brain cells.

Corbin’s muscles were found not to have the sugar molecules attached like they should be which indicates a problem with the dystroglycan system. They also found degeneration and regeneration in his muscle which explains why he has a high CK level (his muscles are breaking down releasing the enzyme and then trying to rebuild).

Mutations in 18 genes are known to cause abnormal glycosylation of alpha-dystroglycan (I tried to describe this above). Together, these muscle disorders are classified as dystroglycanopathies. Corbin’s muscles indicate he may have one of the diseases within this group. Before you google it please understand dystroglycanopathies are a wide spectrum of diseases (just like autism is). We do not know where Corbin in on that spectrum. However, with most of these diseases musclar dystrophy is a big part of the disease.

The next step we need to do is identify the gene that is causing this disorder. Corbin has had 14 of the 18 genes known to cause dystroglycanopathies tested previously. It could be the gene causing the problem hasn’t been tested. Or it could be a gene abnormality was missed on the first panel. Or it could be caused by a gene not found yet. Finding the gene is extremely important because of the fact that this can affect many different organs. Corbin’s prognosis and severity also depends on which gene is causing the problem.

We have no confirmed diagnosis. Just as with everything through this whole process, we have a lead. We will continue to update everyone as soon as we can. We usually take a couple of days to process the information and discuss it between ourselves. Its all so confusing and its a lot to digest in a 30 minute phone conversation with Corbin's Dr.

We go back to Iowa City at the end of April. We will receive formal genetic counseling along with meeting with Corbin’s Dr. Most of the genes known to cause dystroglycanopathies are also autosomal recessive (meaning we both would be carriers). We are also trying to set up an appointment with a pediatric eye doctor. Again, one of the areas doctors are most concerned with this family of disorders are the brain and the eyes. He has already had an MRI of his brain so the Dr wants to double check his eyes.

Also, when they took the muscle sample they took skin tissue. They have an additional test they can run using the tissue to see if they can get an idea of what the gene may be. At that point we can do additional genetic testing. Unfortunately the test takes a few months due to the process they put the skin tissue through.

The last good piece of all this is that one of the major focuses of the University of Iowa is on dystroglycanopathies. We had agreed to allow Corbin's muscle and skin to be part of a study to find new genes and further the scientists knowledge of muscle disorders. However, there is a lab that extensively studies dystroglycanopathies. We will be signing Corbin up to partake in this study. If we can't identify the gene causing these problems, hopefully the scientists will be able to come up with a conclusion for us.

This has lots of big words in it and is very confusing. I have done the best I can to take what the doctor said and put it into words. I apologize if I didn't use the correct medical terms ha!  If it confuses you more than it makes sense, then you are on my wagon!

As always, we appreciate all your support and prayers. We are fighting an uphill battle it seems, but we know this kid is going to be just fine with lots of love.

 

Time Stood Still

We received a phone call Monday, February 9 around 6:30 pm. We were just finishing up eating. We had known the Dr's office had the test results. I had only called a few times pushing for them to call us. So when we were all sitting at the table and my phone rang as it sat on the island in the kitchen, Jon and I looked at each other and we both knew. We both knew it was the Dr with potentially life changing news. I have never before experience a period of existence where time literally stood still.

During that phone call, we learned that they did find a mutated gene on Corbin's last genetic test. It is the dysferlin gene (DYSF). This gene is responsible for providing instructions on how to make a protein called dysferlin. This protein is found in the thin membrane called the sarcolemma that surrounds muscle fibers.

The initial results indicate the for sure 1 copy of Corbin's DYSF is mutated, but because the gene is so large the genetic panel they ran makes it difficult to rule out that the second copy isn't mutated as well. If both copies are mutated, this would cause a muscle disease. Corbin's Dr. feels that if this mutated gene were to explain Corbin's difficulties, then it is most likely that both copies are mutated. What this means is that both Jon and I are carriers.

In order to get more of these questions answered, there will be more testing. Our Dr. has contacted the pathologist (which he assures me is one of the best in the country if not the world) as well as the others in the neuromuscular team at Iowa City to brain storm the best options at this point. A muscle biopsy would give us many of the answers we are seeking, but its obviously an invasive surgery. They are checking to see if we have any other options at this point.

Obviously we have known something wasn't quite right, but that didn't make hearing this any easier. I know they say God only gives you what you can handle. God gives his strongest warriors the toughest battles. Easy to say, hard to comprehend. I am trying hard to keep the faith. Its hard. Many have asked how I can stay composed. Here is the answer. I don't. I can go through the motions of my day and pretend like nothing has changed. I look at Corbin and see the same son I saw a week ago. Give me a few minutes alone with my thoughts, and I lose it. We have pushed hard to receive a diagnosis, and now that it seems within reach I am scared to death. Keep praying for our little guy. He has a tough road ahead, but I know he is going to accomplish great things.

February!

February came in with a bang. I mean a big snow storm! The biggest snow storm we have had in awhile that "forces" us to remain inside. For me it is almost a blessing. It forces me to accomplish a few things I put off.

Anyways, the first thing I want to get off my chest is it has been 66 days since the company received Corbin's last genetic test. After insurance rejected the $22k claim (yes $22,000. not a typo), I called the genetic company for assistance on getting this expense covered. I had been told this test had an 8 week turn around. They corrected me and said it was actually more like 10-12. Therefore we still have 4-18 days before we hear anything. Not that I am counting or anything. Part of me (even though I still wish we had a diagnosis) just wants the testing to be over. Every time we see good things or progress being made, I am still heavily weighed down by the burden of the unknown. I want it to be simple. We will keep loving him and helping him grown into an amazing young man. We will love Corbin for who is. Corbin. I feel like the diagnosis is the elephant in the room no one wants to mention. The good news is the genetic company assured me no matter what the outcome of the insurance appeal we won't pay a penny! (UPDATE: Since I typed this blog and then saved as a draft for awhile it has now been 70 days. I found out the test is ready, but we are still waiting on the Dr to call us back with the results)

Alright now that I have that out of the way. It has been 50+ days since Jon had his last bit of nicotine. We are so proud of him for this accomplishment. In the 4 1/2 years that I have known him this is a feat that he hasn't come close to accomplishing. I want him by my side for lots of years to come so reducing the chance of cancer is huge! I keep telling him I don't have enough time to take Corbin to therapy and him to chemo. Maybe my nagging/suggesting (I think of it more as suggesting) finally paid off. However, he wanted to quit as well which sealed the deal. Also thank you Troy for introducing Jon to Grinds. They are flavored coffee pouches that he can use in place of a dip that are completely nicotine free but contain a kick of caffeine!

What is going on in our life? Jon is deeply engrossed in the basement project. I am just anxious so we can finally start USING our whole house. A place for everyone to go to just hang out. As well as a guest bedroom so we can have guests?! What a concept! The kids' toy room is a big deal for me. I am ready for a place for all these toys to go! Jon is ready for his man cave, and I am ready for a desk so when I work from home on Fridays I am not sprawled all over the dining room table. Hopefully in the next couple weeks all the drywall is done so we can see what it is looking like. For now, I have a picture of the stair well Jon and his Dad did over the weekend.Our first walls are up!

Corbinator is doing some big things. Last time we had therapy at the hospital they used tape to help Corbin "activate" some of the muscles he needed to use to get on all fours. A task he hadn't be able to do. Believe it or not that same night we got home and he was up on all fours and hasn't stopped! We are soo proud of him. At first it took a lot of work. Now it is getting easier. Those hips maybe are finally starting to loosen up a little so he can do the work he needs to do!

Hallie is doing very well. She is learning how to read in school and is focusing on her sight words. She is learning how to spell them as well. We bought a journal for her to practice writing sentences, and like a good student she is quickly filling them up. She is such a good sister to Corbin, and I am very thankful for that. However, some days her teenage attitude is a little too much for this Momma to handle!

Another new thing in our house that hopefully will make my life easier is a new stroller! Ha. Its the simple things. Previously we had the bulky stroller that took up the back of the Durango. I bought this 11 lb stroller to help with Corbin. Some places we go (Dr. offices being the main one) are simply too much for me to lug this 23 lb child around. Now when we go to Maurices shopping we will fit through the racks and not have to break my arms doing so! :) Hopefully this will help me have at least one free hand. Corbin approves.

Our babysitter told us how much Corbin has started to move the walker. We don't put him in it much so he has the freedom to move wherever and work on his core muscles. But sometimes, it is nice to have a new view. I had actually contemplated selling ours. Jon put Corbin in it this weekend, and I was shocked to see how much he could actually move it. How could I have doubted Diane? :) We won't be selling the walker, and may have to start giving him a few minutes of free time to explore his world in the walker! (And how adorable is it that he is leaning trying to find Daddy around the corner!!!)

Here are a few more new pictures for your liking!

 Hanging at work with mom!

 His adores his Dad!

 Super Bowl night!!

Our Super Bowl party! LOL. My how times have changed!

 Getting so big! Getting her own milk and practicing writing!

 He leaves behind a path of destruction! :)

 Sometimes you just gotta be funny. Super Bowl day he comes up and asks if its game time yet!?

 We love these little kids! <3

The Diva

This post will be about Hallie (since she gets slighted)...

Boy oh boy do we have a diva!! She is such a fun spirited loving little girl all wrapped up in a sassy feisty little body. It amazes me. Her quick wit and humor is to die for. She is going to be a very strong, independent woman. I am already too proud to explain.

She is so glad to be back from Christmas break (even though no school tomorrow). We had a rough December. Some naughty choices coupled with some unexpected accidents made a very long month. We are hoping her year is off to a better start. She recently learned how to make her own supper (a taco...aka soft shell with melted cheese and ranch). She couldn't be prouder. She informed us she no longer needs us. Boo. We reminded her of everything she still needs us for just so she doesn't get any big ideas!

She is a nut... here is proof...

But honestly the best big sister ever. Here is yet another video of the whoopie cushion day (and quite possibly my favorite because she makes sure to catch him at the end and he even tries to hug her back!)

And here is photos of her last month...

Merry Christmas!

Another written but never published post... better late than never!!

Merry Christmas from the Waters' clan! We hope you all had a very merry day filled with love and laughter! We had were so excited for the kids to get up on Christmas morning and tear into their presents. Hallie was so excited, but terrified to come out of her room in case she wasn't supposed to. The let us sleep in until 7:30. Santa was very good to the kids which must mean the kids were very good. Corbin loved the wrapping paper. He would squeal every time we tore off a chunk. I can't wait until next year when hopefully he can do the tearing himself.

Since I didn't get Christmas cards out this year, consider this your Christmas card....

Seasons greetings from our family to yours. It has been a roller coaster of a year so far, and I don't expect that to change anytime soon! Life is a roller coaster, take the good and the bad all in one. We have so much to be thankful for, and this time of year makes it all click together.

Hallie is 6 now. She is quite the princess. Someone told us not to call her bossy but rather a play organizer. How true! Hallison (as she likes to be called) has such an amazing personality. She can be so loving and sweet and so sassy and quick witted. She keeps us on our toes. This year she started Kindergarten. We were worried how the teachers would get along. We knew she would be fine :) It has been proven once again that Hallie can handle whatever comes her way. She has learn to adapt to the new rules and structure and is doing very well. We are so proud of her! She loves books, music, pretend play, being a sister, and driving her parents crazy. Maybe just mainly me. Her and I are too much alike it seems! She is going through a growth spurt. As you will see in our family pictures, I fear not too many more years before she catches me on height. She is still a toothpick. On a good day we can get her weighed in a 45 pounds. Not too many more years before C catches her on weight!

Corbin is almost 15 months old. He is the total opposite of his sister. He has such a calm and relaxed personality. He goes with the flow... generally... unless you are trying to do physical therapy and then his temper comes out. He is a lot like his Daddy, and we are thankful for that. He is growing like a week. Up to 23 pounds we think. He has his 15 month check up and shots in a couple weeks so we will get the official stats on him. Corbinator is really trying to get moving. He is very good about dragging his body where he needs to go. He really tries to push up onto his knees, but his body just won't quite let him. He is also going to have his first meeting with a speech therapist in January. He babbles, but no words. No mama or dada yet so it is time to get started on that as well. We are so lucky to have such a great team of doctors, therapists, family and friends built around this little guy so he will reach his full potential.

Jon and I are doing well. Not much to report here. We get older by the day and more gray by the day as well! We are continuing to try to balance work, play and kids. Who knew life would be so rough? This makes us appreciate our parents even more! Another wonderful year in the books! Enjoy some Christmas photos because it took forever to get these crazy pictures of the kids!

 This animation shows how many problems we had.... :)

  What are we supposed to do?

 Oh big eyes...

 Cheesy grins!

 This is fun sister!

Let go of me!

Okay lets give Mom & Dad one good picture to keep their sanity. Merry Christmas!

15 months!

Excuse me what? Yes... Corbin is now 15 months as of New Year's day. Time is FLYING!!

We are seeing some new talents developing with Corbin. His personality and temperament is starting to show. He is finally showing some frustration and anger when he can't do something. This is a good problem to have! He is still dragging his body as his form of crawling. He acts like he wants to sit himself up, but he isn't quite there yet. We have been continuing to work on getting on all fours, pulling himself up, balancing standing both facing furniture and away from furniture. His angry face...

New this week... working on the fine motor skill of holding utensils! He is doing well with this, and it makes me happy. Now if we could get him to accept hard spout sippy cups or straw cups, feeding would be easy peasy! He chews on his sippy cups like his paci, except it is ruining the cups and making them leak.

His 15 month stats: 22.7 lbs (48%) and 31.5 inches (60%). Perfection. Pediatrician was very happy with his progress in the growth department as well!!

Again it is so nice to have someone who hasn't seen Corbin for awhile see the changes. She is very happy with the progress he is making. He gave he lots of laughs and giggles as he ripped paper today (and let out some toots!). She thought his movements were much more controlled and intentional. The tightness she once felt in his legs isn't there anymore. Progress!!

Here are some photos from the last month (since I am a slacker!!)