Thursday, January 22, 2015

Support GM1 Research

GM1 research has been going on for many years, Auburn University has had success in cats using gene treatment therapy. More funding is needed to move onto the next phase.

A friend who's daughter also has GM1 type 2, recently produced this video: Eli and Evan's pictures are displayed at the end of the movie

A friend in the GM1 Gangliosidosis facebook group posted the following:

Just to clarify a little bit, the $500,000 is needed to finish the pre-clinical gene therapy work and initiate an investigational new drug (IND) application with the FDA (the application required for a clinical trial). The gene therapy studies at Auburn in the GM1 cats were started many years ago and Dr. Martin's success has been tremendous with gene therapy treated GM1 cats to date living over 4 years of age and still doing very well (untreated cats live ~8 months, this work was published last year in the journal Science Translational Medicine). This work was all supported by grants, but now safety and toxicity studies must be conducted before starting the IND process. So at this point it has been shown that the therapy works in GM1 mice and cats, but now it has to be proven to be safe. It is hard to get federal funding for safety and toxicity studies (bc they are not all that exciting) yet they are necessary. So the $500,000 is needed to support the final safety studies and go through the IND process in order to get to a clinical trial. I hope that helps. Here's a little more information


Wednesday, January 14, 2015

Jan 6 through Jan 14 - Journal Entries

Lots of journal entries - read what you'd like :)
Supplementation - Hospice has been providing pediasure to supplement Eli's diet. It has been so nice and he has been much happier. I think he gained some weight in just a few weeks. He seems thicker in general. That is so good. He's always had good cheeks as you can see below, but his arms and legs have gotten much skinnier and his height and weight haven't changed much in the last two years. Evan has been enjoying the supplements as well. He calls them "cocah" for chocolate. They really only like the chocolate flavor, they weren't too big of fans of the other kinds.

Look at all the gear Eli takes with him to school!

Eli's Sounds - Today Eli was doing a good job with his sounds. Better than I've heard in a while. He was repeating bu bu for Bus as we waited for it to come pick him up. He kept doing it over and over. He also said pa pa many times and very emphatically while I was feeding him pizza for dinner. On the other hand, Eli has been having a much harder time walking. He really doesn't attempt to walk more than a few steps on his own because he falls over. He can crawl ok, but not well. He falls over when crawling and can't be expected to crawl very far. One of the wheels in his walker seems very stiff so he really couldn't use it today. He can use his walker if there are wide open spaces and no obstacles, but in the house it is getting difficult. He gets stuck and falls over with his walker all the time. So I put him in his wheelchair or stroller and push him around the house, but he gets very whiny and upset if he's not moving.

Entertaining Eli - He's such a patient boy for all he has to endure, but it is getting hard figuring out how to entertain him because he's losing much of his ability to do so many things. He loves human interaction, but he is constantly wiggling or bouncing and it can be a bit exhausting. He pulls hair accidentally and bites, not trying to injure, but just because he has a great urge to mouth and chomp. He is such a sweetheart, but getting him dressed is very tiring. Some things he really likes are human interaction, music, pounding on the piano and being pushed outside. He can entertain himself for short periods of time on a rug with a few toys to grab and move around. Interaction with adults and watching other kids is fun too. Meal time is still a favorite!

Eli Walking - Today Eli did better walking, he still had many sad and whiny periods throughout the day, but he spent a longer amount of time walking in the backyard. I cleaned up the backyard and re-organized the garage so I could put all the toys in the shed. I think obstacles are one of the main problems, so now that it is cleaner, that has helped.

Silly Evan - Evan figured out how to pull off his pants and diaper today while he was on the trampoline and then joyfully told me no "Nu nu" when I said we needed to go get some pants on, the little rascal. I was so frustrated with my curious little monkey yesterday that I ordered a bunch of child proofing locks for our drawers and oven. I've had it up to here with him getting into everything. It's constant. It's not easy Evan-proofing the entire house and everything in it. We keep a lot of doors closed as a general rule and have put locks on most cabinets, but if there is a chair around, he is moving it or climbing on it to get something. I have to watch him at every moment and if I can't watch him for whatever reason, I will usually put him in Eli's room which is the toy room and put a show on for him. He doesn't watch much but it helps keep him entertained. He will last in the toy room for about 20-30 minutes before he whines to get out. I have a door handle on the inside door so he can't escape or he'd be out in a minute! I don't do that with Eli much because he doesn't really play with toys, but today, I found some cute nursery rhymes online and he watched them in his wheelchair for a little while. That was nice.

Evan is totally into putting things on his head. He actually loves to wear his helmet! He found Laya's headband and put it on himself. He gave me the best smile while he was wearing it. Unfortunately, I didn't catch it with my camera.

Here Evan found Laya's hat and put it on all by himself. I was surprised he could do that. He was so cute. Of course messy too! And we are remodeling our kitchen, so that's there!

Hugs - By the way, Evan and Eli give the best hugs, they squeeze so tight! One of Evan's nursery leaders at church said that he was bouncing Evan on his knee and playing with him and then all of a sudden he stopped and gave him the best hug ever. How cute is that!

Laya - 2nd grade can be long for Laya sometimes and I think she acts silly around her friends, so when she gets home it is not always pretty. Laya was in a bad mood today after school and stayed that way for a while. But after finally finishing her homework, she was happier. We then had a great time snuggling together reading "Little Woman" in her bedroom. I love that book and she has really enjoyed reading and asking me questions about it. This is the first time she's read a "classic". It comes from a different time, I like the values it teaches. She loves reading together each night and I cherish it as well.

Evan in the car - I drove to the library with Evan today. While I drove I listened to my book series on European history. I got the lecture series on CD from the Library. I thought it would be good if I could educate myself while driving and use my brain a little, so it doesn't turn to mush! Evan just sat there quietly sucking on his pacifier the whole time. We then stopped by the post office and Evan was surprisingly well behaved in the store. He didn't pull anything off the shelves, then he went behind the counter and visited the owner, who was really nice and patient with him. Later in the afternoon, Evan was obsessed with pulling stuff out of all my cabinets again, but we got through it. Only one candle broke today!

Eli's walking - Eli walked around the house with his walker for about 30 minutes today. That was really good. He fell down a lot, but I watched out for him and he just kept going. He spit up twice noticeably and then a few more times, a small amount.

Eli and Music - I thought about this earlier today and I wanted to make sure I wrote it down. Eli was so funny on the way to Utah. We had been driving for a while and he became so sad. He began crying, whining, and his volume kept increasing. I couldn't get him to stop, nothing was helping. Well I'm sure getting out of the car and not driving anymore would have helped...but. I thought maybe music will help, so I turned on some church music, songs about Jesus and kids music and instantly, he stopped crying. A smile crept up on his lips and he stopped moving. Then he started bouncing and smiling to the music and didn't cry or whine for probably about 30 minutes. The whole family loved the music as well and it changed the whole mood in the car. After that, he began to get upset again, but we were getting ready for another stop, so it was ok.

1 / 11 / 15
Medical Journal:
I have been sick for awhile now. I have a cough, sore throat, and a runny nose and it's been that way for months. I think it's just allergies, since it seems to come and go and be worse certain days. But it's really not that bad, it's just kind of annoying, although I'm grateful I can function just fine. Brad is still sick this week, he has the same symptoms I do. Evan has been sick for months with a runny nose and seemingly sore throat at times during the night. Eli always seems congested at night and is dry. I bought them both a cold mist humidifier for their bedrooms as well as a heater. Consistent use of those should help.

Eli's Journal:
Eli had a pretty good day. Alex came for respite care and did a great job with Eli today. But as soon as Alex left Eli was fussy. He needs a lot more constant attention and help to do pretty much anything. And he's not happy as much as he used to be. It is kind of sad to watch and it feels hard not knowing how to entertain him or help him. I just have to make sure I try to get everything done while he's at afternoon kinder so that when he get's home, I can take him for a walk or sit and hold him and play with him, Evan and Laya.

Evan's Journal
Evan is my little monkey. I love him so much. He has been accepted into DDD (Arizona's Division of Developmental Disabilities). I am excited for him to get speech therapy and other therapies, I think he could really benefit from speech right now while he is still so perceptive, well actually receptive.

After School Solution - Today I realized that my after school problem can be better with a little adjustment from me. Things after school have been hard because of Laya's attitude and Eli and Evans restlessness and whining. I decided that I shouldn't worry about homework and just to leave that for later and use the time after school to have fun with the kids and relax. I will try to get most of dinner ready before the kids get home so that we can go for a walk or just play together. I think it will also help if I can get Laya into some more activities after school. She is back in Gymnastics now so that will help.

We are trying a different gym that does mostly dance and has some floor gymnastic classes. She had a great time! The first day, most of the kids were gone at competition, so only her and another girl showed up. Nice lunge girl!

This morning was very busy and stressful and I didn't have all the bags packed and ready to go the night before, which would have helped tremendously! Eli had OT up in town so I had to leave straight from dropping Laya off at school in order to get there on time. I had errands to run; get Eli's helmet adjusted, buy new strings for the back of their glasses that broke and fix the tray on Eli's wheelchair. I think tomorrow will be better. We won't have to rush to go anywhere.

Eli spitting up - Eli spit up 3 times this morning. He wasn't even bouncing, just sitting in his wheelchair when it happened. Nicolle, Eli's Habilitation worker, suggested we keep a medical journal on the back of his wheelchair and write down what happens with Eli, from spitting up to falling, to absence seizures.

Thursday, January 8, 2015

Holiday Happenings!


We've had a series of colds, the flu and fevers. It's gone through all of us except Laya.  

Laya  Helping - Laya decided she wanted to help me out by putting Evan to bed for me. It was funny to watch her. (She let me do the diaper change!) Then she struggled to keep him lying down as she put his pajamas on. It was cute to watch her talk with him so sweetly, like she was the Mother, trying to be patience with his endless wiggling! 

Laya - Laya had an up and down day today. At one time she was raising her voice and throwing popcorn kernels on the floor and putting off doing her homework by irritating everyone else in the house. Later she was acting sweet, apologizing and hugging me. My Dad always told me I was moody, now I'm paying for it. :)

HAB - This morning Nicolle was here doing Habilitation with Eli. She brought Eli and Evan into the toy room to play and told me that the boys were being so sweet with her. Rubbing her back, cuddling and giving her hugs. They were also blowing her kisses. They are so cute. 

12/18/2014 - Today Santa, Mrs. Claus and their elf came and brought presents. Hospice arranged this! It was so fun. Santa doesn't knock, so he told us to leave our front door open. The kids (especially Laya) were so surprised!

My Family - We had a really fun trip to Utah this Christmas. It wasn't too bad of a drive up. We stopped and took a walk for about 30 minutes. Had a relaxing time, except Evan screamed the last 2 hours and we got there at 10:30pm. But then we had a really nice time at my Mom's house. I loved hanging out with the nieces and nephew especially, they are so cute. My favorite day was the day we all got together and made gingerbread houses. Mom found some cute small houses for each kid to decorate and then the adults did ours afterwards. It was just a really nice time. Everyone laughed and had fun together. Mom even got Brad, Cody, the girls and I to go Christmas caroling with her. We ran around the neighborhood and laughed and sang. 

 Grandma and Grandpa Litchfield with some of their great grand kids! They recently returned from a mission in California, so it was really good to see them. 

Making Gingerbread houses!

 Yes Amy and Nichole are both expecting! Amy is due in only a few more weeks now, they are both having boys. 

 The kid's gingerbread houses. Thumbs up Bailee!

 All of the adults made one as well. Oh I just noticed the P for their last name!

 Mom made some yummy food while we were there. Here is the wreath shaped calzone!

 Evan getting into trouble

 More trouble..
 Henry and Lucy

 Beautiful Brad
 The wrestling coach working on some new recruits

 Eli likes his light up music toy!

 Bailee and Henry. Henry doesn't look worried at all, does he?

 Cody made this game for my Dad and Mom. Awesome! 

Skateboard Video!!

Here is a video of the skateboards that my Dad made for all the grand kids. They had so much fun!

Brad's Family - We drove up on Christmas Eve (evening) to Logan with Brad's family. Santa came to Grandma's house. The kids had a fun time playing with all of their cute cousins. I love seeing them since it's not often I get to see them! We spent a relaxing day having dinner and opening presents. Laya played out in the snow multiple times with her cousins. Evan tried to, but it was too cold for his hands and he fell down too easily. I'm SO glad we don't have snowy winters here. It is so nice to be able to go outside throughout the entire year! One of the days we went to the mall with Lori's family and bounced on a bouncy land they had there. The kids loved that. Laya was thinking about getting her ears pierced, but then got scared and changed her mind. Carrie invited us over for dinner on Sunday evening. Lots of fun times. 

 Watch out, Brad is going to get you Victoria!! Yeah Brandt, you better run!

 Eli and Lori

 Laya and Victoria

 Kimball, Madalyn and Gabrielle

 all the girls with Sydnee! Laya is sporting the new hat she got, she says she is a tom boy, so she's been wearing it to school almost every day this week. 

 The Triplets, Nathan, Josh and Zack with Kimball. 

 The girls are involved in Gymnastics, lots of tumbling going on!

 Opening presents with Grandma and Grandpa

 Kimball is obsessed with Mario and is amazing at video games (he's only 3!). Here is Kimball and his Dad, sporting their Mario and Luigi hats!

Commnication and Struggles

Communication -
When you have visible trials in your life people ask you how you are doing a lot more often. Learning effective communication is essential in getting along with family members, friends and perfect strangers.

When someone asks you how you are doing with whatever it is that is going on in your life, learning how to share just enough, but not too much, is good to know.

Sharing the facts: You do have to gauge whether that person really cares about the details or just wants a basic overview. Some people see that there is something wrong with your son and just want to know why he is acting that way and is so behind. Some people just want the facts and don't know how to listen or understand the emotions and don't necessarily want to hear them. But remember that just because someone can't handle emotions well, doesn't mean they don't care about you. (For me, I almost have to practice an un-emotional response to people. It isn't easy for me to explain situations just in terms of facts and latest happenings, while separating the feelings and emotions associated with them) Learning and practicing how to share the facts with others in a summarized way, can be very helpful.

Sharing emotions and feelings: It takes a greater deal of courage for some to share emotions and feelings, but if you share them with people who really care, it can be an experience that will draw you much closer. Some people do want to hear the emotions, so they can empathize and draw closer to you. You have to know how to respond to both kinds of people. (I am pretty good at sharing emotions and feelings, (my husband will second that notion!!) but I often have a hard time summarizing them, no one wants a long drawn out sob story. So I've been getting better at sharing a picture of our thoughts, feelings and struggles in a summarized way. I've shared feelings with people who are not responsive or empathetic and it can feel awkward and empty.) If a person is unsure how someone will handle their tender emotions, they can share a small amount and see how they respond. If they do not listen or empathize well, then that person can simply stick with the facts.

Learning to share in both of the above ways is important for a well-rounded individual who can communicate with many different people.

Basics of Communication:
Both parties should share at about the same level. If you don't know each other well, sticking with just the facts and getting to know the other person is how it should start.

Family and friends with good communication will know how to listen well and share experiences on both sides. They will also respect opinions, rather then taking them personally. That is one important way family and friends create a close bond with one another.

Communication is give and take. Both parties should share back and forth. (If I tell someone something that is important to me and they just say "oh", it may not be a satisfying interaction.)

(I've been thinking about listening effectively and it's consequences...I'd love to improve in the following areas.)

Listening Effectively

Ask thoughtful questions to increase your understanding of the situation. Asking questions shows that you care enough to further pursue what they have to say.

Repeat back perceived facts or feelings about it. If you repeat back what they have said, they will know you are trying to understand and can clarify if you didn't get something exactly right.

Empathize by putting yourself in their shoes for a second and sharing what it must be like for them.
If you are physically in their presence, look them in the eyes, put away distractions, smile and interact.

Share something from your end, but be careful not to discount their feelings by saying, "Oh...I'm sure it will all turn out fine" or something like that. If someone just got done telling you how their wife has cancer and all you can say is, "yeah, but you know it'll be fine" that probably won't make them feel any better. Maybe it's better to say those things after you've taken the time to try to understand the situation and show that you care first.

Sharing something shows that you are willing to open up with them as well. We can share experiences we've had without comparing, since we all have different experiences in life. Sharing other people's similar experiences is less helpful. Most don't want to hear about all the other people who's wife has had cancer and they turned out fine. Unless they are searching for other stories or experiences, it is usually best to not bring them up.

Giving Advice: Some may jump too quickly to giving advice. People need to feel like they are fully understood before advice gets shoved down their throat. Assess the situation and be sensitive about giving advice. (As an oldest child, I'm very prone to giving advice when it's not necessarily wanted!!)

Accepting advice is important to learn, (I was not good at accepting criticism growing up, but accepting criticism is a sign of humility) it shows that you are humble enough to see that you don't know everything, need help at times and can listen to others.

(I have been given advice from people I don't know many times. They are usually nice ladies at the grocery store, who watch me struggle with keeping my children under control. The advice I've been given more often than any other is "Enjoy them while they are young, they grow so fast." When I first got that advice, I liked it, but then I started getting tired of it. And now I like it again.)

 One key to accepting advice is to really listen and think about what they have to say. Often, when someone is giving advice, it's because they care about you. We can thank them for caring and appreciate them.

(I have been touched by many strangers, (not to mention friends and family) who have said the kindest things and given me advice. I know that I do need to "Enjoy them while they are young". That advice is more potent and meaningful to me now, than it has ever been!)