Genetics

Today we had an apt with the geneticist to help us decipher the results we got back on my Moms genetics (or at least try to). This may only be interesting for Caroline's relatives...for the rest of you - sorry this may be loooong!

Some facts to start out: Only 5-10% of ALS is passed through genetics and they classify those patients as having "familial" ALS. Of that 5-10% that have familial ALS they can only identify the gene responsible in about 25% of those cases. If they can not find it on a gene that does not mean that it is not familial. Familial ALS does seem to be more aggressive than non-familial ALS. They also usually classify it as "familial" if 2 or more people in a direct line have ALS. My Moms Aunt died of ALS, and it is suspected that my Moms Aunt's cousin also died of ALS. They have assumed because of the family history and the speed of my Moms disease that her ALS is familial, although my Moms Aunt lived for 3 years after symptoms developed so even compared to her Aunt my Mom is going fast.

Now for a quick biology recap: Each human has 23 pairs of chromosomes. They inherit one from each parent making a total of 46 chromosomes all together. On these chromosomes we have "genes" and there are over 30,000. A gene mutation or variation can cause genetic disorders either through a deletion in the sequence or additions. ALS is classified as autosomal dominant which means that only 1 parent has to pass the bad gene, a bad gene will dominate a normal gene. Theoretically this means that if someone has it on their gene - they will get it.

The majority of familial ALS is found on the SOD1 sequence. They are finding new gene mutations that can also cause ALS but these are still very new. In my Moms case there is no sequence alteration on her SOD1, TARDBP, ANG, FIG4 but on her FUS sequence there is a sequence alteration. They have it listed as FUS Variant 1: 3 base pair duplication of CGG. What does that mean? It means there is an amino acid change of unknown clinical significance. And what does that mean??? A genetic mutation of the FUS sequencing has only been linked to ALS in the last year, maybe two. There is simply not enough information to determine if this is what has caused her ALS. She did point out that a 3 base pair duplication is better, or less significant, than a 1 or 2 base pair duplication since it keeps the amino acid chain intact (if you understand what that means feel free to explain it to me)!

The only way to find out if that mutation is significant to her ALS would be to test her Dad and find out if he has this same genetic mutation - because it was his sister that died of ALS. Although if he passed this mutation onto my Mom, and it is a mutation that causes ALS, her dad "theoretically" should have gotten ALS because he would have to have the gene and the gene is suppose to be dominant. Only problem with that is he is 86 and does not have ALS. They explained that all of the genes interact with each other in different ways so someone can have a dominant gene and have it be dormant because of other genetic factors.

What we can conclude: a whole lot of nothing! We don't know if my Mom has familial ALS or not. She does have a genetic sequencing alteration that "could" cause ALS. It can only be proven by finding that genetic mutation in my Grandpa, to prove that the link between his sister and my Mom and also have one of my grandpa or his sisters descendants also get ALS - who also have this same genetic mutation on the FUS sequencing. That would show a direct link between the mutation and ALS. There are Dr's salivating over getting mine, my brothers, my Aunt, and my Moms cousins DNA...at least for me, its not going to happen.

No matter what my brothers and I have a 50/50 chance of having this sequence alteration. My mom has 2 chromosomes to pass so she either passed us her good or the altered. My Moms sister has a 50/50 chance of having that same alteration since one of her parents has to have the mutation. My cousins could have a 50/50 chance of having it - but only if their Mom inherited it like my Mom did. My Moms cousins have a 50/50 chance of having a ALS mutation but only if their Mothers ALS was actually caused by genetics.

It doesn't change anything about the way my Mom is treated, they just are looking for subjects that can help further their understanding of ALS. It is such a unknown disease and we have so little knowledge about what causes it. They are going to do another test on my Mom and look for yet another genetic alteration that they are just discovering the link between that sequencing and ALS.

For now, only time will be able to tell and there is no use worrying about it :)

How to leave a comment on this blog...

I have had several requests from people on how to leave a comment here for my Mom. At the bottom of this post you will see something that looks like this : 1 comment. If you click on that it will open a new window where you can post a comment.

Hope that helps!

Dng-Dong-Ditch, 12 & 24 days of Christmas

This has been a fun season so far. My sweet daughter-in-law, Lisa (Mark's wife) started Dec 1 with "the 24 days of Christmas". where she gave me small gifts to open each day along with a rhymed message to go with it. This has been so fun for me and I look forward to it each day.

We had Bonn fires in the driveway and waved to people as they drove or walked by looking at the lights. Hosted a couple parties. We are seeing movies and I am getting weekly massages.

Then 2 days ago we had a ding-dong-ditch Angel start the 12 says of Christmas to our family. They 1st gave us a chocolate cake (my favorite), last night we got 2 stockings. How fun is that?

And we are feeling God's love through you angels of Mercy. Your cards, letters, and friendship are buoying me up, thank you, thank you, thank you.

Unfortunately...

This is a sad and emotional post to have to write and my Mom has tried to push this milestone off as much as she can. In fact its a little bit of our intervention that has initiated it, because my Mom loves people so much that she might not ever get to the point to take this next step.

Unfortunately, the time has come that even though she loves visitors, it takes to much out of her to have visitors coming to the house. Even short visits seem to drain her since she cant help but want to talk and express herself. And you know my Mom, she cant but express herself in her animated and energetic way :)

I know that many of you have not had the chance to come visit with her yet and for that we are truly sorry, this disease has not relented in its pace and none of us ever expected this to come so quickly. We are so grateful for this blog because this is where she will continue to write her messages and love to each of you.

She adores cards, messages on facebook, and comments here on her blog are a great way to "stop by" and visit with her. No really - she LOVES comments! If you need our address for a card you may contact Lisa at johnlisa02(at)gmail(dot)com and I will send you our address.

We can not express our gratitude for the love and support you have all given her and wish we could individually let you all know what an impact you have had on her life. Please know that she wishes with all of her heart to sit with each of you and tell you that herself.

Thank you so much for your understanding and consideration.

Sweeeeet Caroline...

STRONG

FUN

EXUBERANT

LOVING

SILLY

SASSY

&
SWEET!

I love these pictures of her.
We took them in September right after she was diagnosed.
They make me smile every time I see them because they show so much of her wonderful and animated personality!

This is who she still is.
This disease has not & will not ever change her Spirit.

I just wanted to share them with all of you that love her too.
-Lisa

Medical update

How do I start? I guess its time to be honest. My case of ALS will go down in history as being a very fast case. Here is how I see it. The ALS clinic is barely keeping up with my changes as their clinic is held every 2 months. They have no clue how fast I am deteriorating.

My muscles are atrophying to the point I am becoming hunched back. I can no longer stand up straight. This makes my shoulders and neck ache constantly.

I can no longer talk. I can't answer the phone, because you wouldn't understand me. Today we had an appointment with the Speech clinic and I now have a mountable computer on order that can be calibrated to read my eyes for typing! How cool is that?

My left arm is dead weight and swollen, but you already knew that. Now my right arm is almost gone and my right hand still works, for the most part, but my right hand is very weak. I can't really write my name anymore! Here it is Christmastime and I can't wrap or unwrap the presents. But guess what? It gave Ashlynn, my 10 year old granddaughter the opportunity to practice wrapping, and she did a great job. Thanks to everyone who has helped me wrap my presents!

My legs still work, sort of. I have to be helped into a standing position from a sitting position. Yep, it means I can't go potty alone anymore, I need some to pull down my pants, pull me from the toilet after my business is done and then pull my pants up again. sounds invasive and it is!The good news is that I have one of those fancy electric wheelchairs on order and it should be here just before Christmas! Watch out world, here comes Hot Grma Silly Caroline, get out of my way!

As for food, I still try to take a few bites of food, but I am getting most of my nourishment through my feeding tube. The good news here is that I have always considered eating a waste of time! Don't get me wrong, I like good food, it's just my motto has always been "I eat to live, not live to eat"

The only really scary part for me is the ability to breathe. At my 1st appointment at the ALS clinic they tested my breathing and I was at 106%. After my feeding tube went in, I was at 59%. Now I am guessing I'm about at 40%. Since the Dr. is on vacation until Dec 20, I can't have it tested again until then. This means my diaphragm is now affected. Meanwhile they suggest I keep my Bi-Pap machine on at all times. Can you imagine sitting around all day and all night hooked up to a machine with a pilot mask attached to your face, smashing the bridge of your nose as it keeps slipping down on my face, with a harness going around your head holding it in place??? I can't even unhook the strap anymore to free myself when I get an itchy nose, therefore I feel like a caged animal.

(A visual of her mask)

Oh, but it keeps me breathing! I decided when I first learned I had ALS that I would NOT be tracheated! Although my breathing is harder, I stand by that statement. No heroics for me, there are a lot of things I am afraid of, and being just a living vegetable is one of them, Heaven is not!

Primary Love

I served in the children's organization of our church for over 25 years. We call it Primary. Recently i served in the 4/5 year old class until I couldn't talk anymore. 2 days ago, the Primary leaders brought the children to visit me for a surprise service project.Here they are singing Christmas carols to me.

Here is their awesome chorister, Sister Stephanson.

I love the children.

Here they are presenting me with a tree and ornaments with their individual pictures on them. That's Garrett Larson giving the ornament he made for me. Each child presented me with an ornament .

I think the train and toy city were a great big hit!

This is my new Christmas tree full of love from the children!