The Family Life is the Good Life: Myotonic Dystrophy Type 1 and other things

After talking to Kelsey over Christmas break I read up on Myotonic Dystrophy. There is a whole website about it now and a lot more information in general online now than there was several years ago when we first learned that it runs in Cory's family. It was only officially discovered and labeled in 1992. The Human Genome Project wasn't completed until 2003. Scientists are making progress everyday. Anyway, while reading about it it became pretty apparent to me that this could be the cause of every health and education problem we have been dealing with for years. Aiden and Avery took longer to be diagnosed with autism spectrum disorders because they didn't fit the typical mold. It was obvious something was wrong and that was the closest diagnosis they could come up with. Besides, autism spectrum disorders are just a list of problems that we don't know the cause of and likely the cause is different for many people. I have also been struggling for years to help Cory and Tristan with their daytime sleepiness problems. They both take thyroid medication and it helps some but not enough. All of the boys have attention issues they take medicine for and it has helped. They are all very thin and seem a lot more weak and tired than their peers. They notice it too and ask why can't they be bigger and more muscular like the other boys their age. Tristan's tibial torsion that he had surgery for can even be related to this. Everything can be related to this because it affects every cell in your body. It can affect everyone differently but a lot of things are more common. So I decided to look for a doctor who specializes in this. Lucky for me there is one here at University of Utah. He's the only one in the state. I emailed him and described our situation and asked if he thought they might have it. He said it very well could be and that I should bring them all in to be seen. I scheduled an appointment and it was like two months out but since I was busy trying to get Lidia off on her mission that was good. I can only focus on a few things at a time.

Our appointment was Friday, March 10. We were there from 9-3 that day. They did a lot of tests. I was impressed. I thought, yes, I made the right decision. In short, they believe they all have it. Cory and all three of my sons seem to have inherited this genetic disorder. I could be really depressed about it. Part of me is super happy that there is an explanation for all of the things we have been dealing with for years. It has been a hard road to know something is not right but no-one can really help. They just try to help treat the symptoms. Some people treat you as if it's just in your head and you are just worrying too much or act like you just need to teach them better as if they are just choosing to behave this way. Get real! No-one would chose it! However, those who really know them and work with them and see them with their peers know that somethings are definitely not right. So we know what's causing these things now but there is no cure and things could get worse as they age instead of better. That is something that I try not to think about. I try to remain positive and hope that they will not be severely impacted. Some people don't have severe issues. There is no way to predict what will happen. They are working on a medication that could really help though. That gives me hope. It may be ready for trial in the next year or two. The medicine binds the extra proteins on that gene that cause the problems. Binding them makes them not able to work which means not able to mess things up. It would be amazing if the problems they now have would improve. I have never thought that possible before. I just thought things would stay the same but they learn how to cope better as they get older. So, I am trying to remain positive. If a real treatment becomes a reality it would also ease the burden of what to do when they come to the point in life where they are getting married and wanting to have their own children. We hope Lidia doesn't have it but we will take her to the Dr after her mission. Each child has a 50% chance of having it and it is worse when it is passed from mother to child for some reason. It's also worse with each generation. Many people may not even know they have it because it's not severe but then when a younger generation has severe issues it is found.

We learned a few new things at this appointment. Aiden has AV first degree block. Apparently it happens a lot with DM1. It's basically your electricity that makes your heart beat sends it too slowly. His is very minor but could get worse as he ages. They want him to see the pediatric cardiologist to keep an eye on it. We haven't been yet. Dr Johnson said that if it ever gets bad enough they can fix it with a pacemaker. The other ekg's came back fine. We also realized that the boys can't raise their eyebrows up and down. DM1 appears in the face, hands and feet first. They even made note of how skinny Cory's hands and feet are. They did a lot of physical therapy type tests and reflex and resistant muscle tests. Avery and Cory showed myotonia in their hands. When they hit the base of the thumb muscle in their palm, their thumb raised up but wouldn't go back down for several seconds. This is myotonia, when you can't relax your muscle after it has contracted, not only did it not go down on it's own like a reflex should but they can't even voluntarily make it go down. Once they explained this, what myotonia is and how you would notice it, Cory said that his jaw is that way. If he clenches his jaw it takes a bit before he can release it and open his mouth. The doctor also noted how Cory is slow to respond or answer when asking him questions. I have always noticed it! lol I feel like my mind is wound up on speed all the time compared to him. Aiden is that way too. I haven't noticed it with Tristan and Avery really. They also want to do sleep studies on them. They said it is very common for DM1 patients to have apnea or irregular sleep cycles and daytime sleepiness is one of the number one complaints. They prescribed Cory a medicine that they said helps most people quite a bit. It's really expensive though and insurance won't cover it until the doctor sends them all this paperwork about diagnoses to justify it. This is one of the covered diagnoses though. It shouldn't cost so much anyway. The rip off drug company charges a thousand bucks a month for the generic version here but you can get the same medicine from India or Mexico for like 60 bucks a month. I hope Trump can actually straighten out these drug companies like he says he will. The medicine for rosacea is not covered by insurance because it is for dermatology which I think is insane. Cory could get a staph infection and die if it is not kept in check. He has chronic blepharitis on his eye lids. It's no joke. He has to take a similar but different antibiotic at a low dose instead because the drug companies charge 300 bucks a month for this medicine because there is no competition. The generic is as much as the name brand. We are all being taken for a ride. We have also run into problems with eye drops not being covered. Antibiotics that are not covered only because they are too expensive. The insurance companies are saying that they are not going to pay these crazy prices so we get stuck having to settle for older inferior meds. I realize it costs money to develop these meds but I also know that the industry is rolling in cash and taking advantage and there is no real competition in the market. These things need to change.

The day after this doctor appointment with all this news was Cory's cousin's funeral. Nick had DM1 and it is pretty much why he passed away. It's very sad but we are happy he is at peace and not suffering. I am sure he will always watch over his wife and daughter from the other side. He was always so kind and positive despite his trials. He was 40. So young. Cory went up to Jerome with his dad and Kelsey for the funeral. He was a pallbearer. He also got to spend some time with Clay which I know he enjoyed.

Not too much else has been going on. I stay busy subbing quite a bit. This week I am trying to get things done at home instead. I am also going to see another obgyn to get her insight on my situation this week. Avery has a cavity and this time it's a permanent tooth. I bought him an electric toothbrush and we are trying to get him used to it and to brush better and to floss. Tristan seems to be doing better with oral hygiene since we got him a sonicare toothbrush. Eventually we may all have one but since they are not cheap I wait for coupons or specials on amazon. I am teaching Tristan's sunday school class now. I am trying to do some fun things to keep the boys' attention. They can be hard but it's pretty good so far I think. Cory is YM secretary and helps with Avery and the deacons a lot.

Yesterday was a nice day. The boys helped collect food donations for scouting for food that morning and I went to my neighbor's daughter's wedding shower. Then Aiden went to dart side with Caed and Jacob while Cory and I took the boys to play at two different parks and to get a slushy only to realize that the Sonic had gone out of business so we got Jamba Juice instead. The park in West Point is quite fun, more like the ones in England. Cory and Tristan also played soccer with some other kids in the park and got stomped but had fun just the same. Cory is planning what to plant inner garden this year and wants to get some blackberries started. He pruned our fruit trees and raspberries. Daylight savings time has been an adjustment. We stay up too late. It will just get worse as days get longer. Why do we do this? It's also harder to get up when it's dark out.

It snowed on our drive to Logan and back for Aiden's dance competition but not bad luckily.

Lidia seems to be doing well on her mission.

We met up with Kelsey and crew Feb 18 at BYU.

We went to the art museum and the creamery.

We also went to the trampoline place which the kids loved. We did see one guy break his leg.

I had to work hard to get Avery to try this and he finally did before we left and said it was so fun.

Nicole is pretty cute!

Sammy is cute too, and funny.

Avery had science fair. His was about dog intelligence.

Avery is prepared fro battle? lol

Aiden's group won their division!

We sent a "greenie" package to Lidia for St Patrick's Day.
I am enjoying sending fun little packages. I think it helps me feel like I am doing
something to brighten her day even though we are far away.