Day 1- Dosing - August 31, 2015

Is it in "vein"? I've been thinking a lot about this study, the outcomes, my kids, husband and especially a certain special drug named DMPK (lots of numbers I can't disclose) today. I'm not going to lie, today has been a little rough.

My plane left over an hour late last night, putting me in SLC just past midnight, running to the rental car place, and landing in my bed at the hotel after 1 a.m. When I got the car, though, Enterprise upgraded it to a cute little VW Bug that is way too fun to drive way too fast. Salt Lake is a ghost town on a late Sunday night, a little different than Phoenix! When I got to the hotel, I also found out my room there had been upgraded. I'm on the 7th and top floor of the Marriott, it's a secure floor, that you can only access with your key. There's a lounge that's open all the time with free food. So, I figure two upgrades can only be a good omen for a drug "upgrade", right?

My view from the top- Utah is Pretty!

I arrived at the hospital at 9 and started going over paperwork with Susan. I've been drinking water, like it's going out of style, to pump up my veins in preparation for the day.

Still drinking so much water, with my souvenir cup.

So, right after vitals, where my blood pressure was a shocking 100/55 and, 99/66 just now, (especially considering how stressed I am), a student brought in this bag of tubes. I'm not sure the picture does it justice, but the picture is worth a thousand drops of my blood.

My bag of tubes

The blood is all being taken out of an IV, so that's good. The nurse did a better job putting it in today. We warmed up the vein and, like I said, I tried my best to pump it up over the past few days. She took a couple tubes for "pre-dosing" and then, I got the "dose".

Susan with the tubes

There's no way to tell for sure if I got the drug or not. Dr. Johnson came to do a physical a few hours after the dose. When he made me make my fist and release it, he said, "well, you've still got myotonia." It was pretty funny.

So, here's the important thing for my myotonic mommy friends - yes, I'm talking about you: Jennifer, Suzanne, Steven (and Hamsa), Deanise, Lisa P., Lisa H., Narelle, Joanna, Claire, Kari, Trudi (and Sarah), Mikar, and our English friend, Sarah, and all you other brave mamas taking care of our special kiddos- this is what the drug is like, if I did in fact get the drug.  The injections sting, but I had one person and one person only on my mind. He is this perfect little angel, who I get to call "mine".  He gets shots in his stomach every other week and thinking about it still makes me want to cry. Anyway, the shots sting pretty badly. But, I thought can Aulton handle this? I'm pretty sure he can. Then, it starts to burn. Sarah assured me this is completely normal. They time the burn....7 minutes, still do-able for Aulton.  Throughout the day, the injection sites grew puffy and white around the actual injections, which actually didn't bleed. I got the shots about 8 hours ago and the tenderness has nearly worn off. Aulton's so tough, he's totally got this. I wanted to give all the parents all the info. about the actual dosing, so you can think about how your kiddo will do, when this drug works and they get to have it.

I feel like I got it. Dr. Johnson can't share how he feels and the nurses just nod, when I say I don't think saline burns or puffs up your skin or hurts for 8 hours. Dr. Johnson says we will find out who got it next summer.

After the injections, they drew my blood (about 7 tubes), then they drew my blood every half hour, then they drew my blood every two hours. I've had 10 blood draws today and I have one more to go, at 10:30 pm. Then, they will take out the IV. This vein is done, though. They keep coming in and flushing it and they push it down, while they draw the blood.

The vein a few hours ago.

Once it's out, though, I have one more blood draw in the morning. A 24-hour draw. I'm also doing a 24-urine collection. Also, a super fun part of the day.

First draw

Throughout the day, I have been on the phone and the computer. The study coordinator for the kids' study reminding me of the surveys I have to fill out for Aulton's study (for he and the girls, since they were controls). The surveys took me about 4 hours. They are a little depressing. I see all the stuff Lyla is doing and most of the questions on the surveys for Aulton I don't even know how to answer. If he had homework, would he forget to turn it in?  If he prepared food, would he be able to manage utensils? Would he write sloppily, if he could write? If he spoke would I be able to answer the hundreds of questions that are posed about that area of development? I don't know the answers, but I do know this is not in vain.

Symptoms Today:
tender injection sites
really, really sore inside of my left elbow from the IV
serious muscle pain in my left quad (not sure what this is because it s a new muscle problem. I'm going to talk to Dr. Johnson about it tomorrow).
crampy calf muscles
still have a pretty sore muscle biopsy spot, also on my left leg
neck pain
shoulders and back are ok today :)




Baseline Day - August 26, 2015

Pleasure and pain. Yesterday was a resting day. I didn't really need it, but you have to take a day between screening and baseline for the doctors to determine whether you meet the criteria.

So, I spent the day resting. I tried to sleep in, but it turns out that sleeping in is really waking up at 7 am and not being randomly woken up by Aulton and Lyla in the 5 o'clock hour (or earlier). Uninterrupted sleep is really so nice - one of the pleasures of my trip. I went and got a pedicure, went to lunch, did a little shopping, went to dinner and went to a movie. And, made a fairly quick trip to the hospital to sign some more papers and get the holter monitor removed. It ended up being a pretty fantastic/pleasurable day.

Today, was filled with some pretty good experiences, as well. I did PT for several hours this morning, same type as I explained in the earlier posts. I ran faster and performed about equally as well as I did, two days ago, on the other tests. Afterward, I had quite a bit of down time; I did a bit of reading (am I ever going to get into "Code Name Verity"?), made some important phone calls, talked to Mike (yes, he's important, too) and ate lunch.

After lunch, a friend of mine, who I met on Facebook is there with her sweet son, Dallen, who's 8. He's seriously adorable. I imagine Aulton would talk like he does, if Aulton ever speaks. He and Aulton share the same laugh. Deanise is Dallen's amazing mother. They are there so Dallen can participate in the same study that Aulton does.

When I was done for the day, I went into Dallen's room to say goodbye to them. Dallen was crying from the stickers they put on for the EKG. I asked him if he knew that I thought he was incredibly brave. Between little sobs, he said "yeah." it was the cutest matter-of-fact answer ever.

After my first visit with Deanise, Dr. Johnson came in. I jokingly asked if I had passed the screening. He seriously replied that they don't usually give biopsies to people who fail the screening. This was my warning.

First, he performed the EMG. The needle hurt a bit more today. He only pulled it in and out 20 times. The last five really hurt. I asked him to be really honest about how much the biopsy was going to hurt. He said, most people say it hurts less than the EMG.

Apparently, I am not "most people".

Getting the second sample

The Lidocaine

OUCH!

The tissue - for research that can help for this and future studies

The Incision
 

The biopsy is an interesting little procedure. First, the doctor rubs a huge area by the front of your left tibia with iodine. Easy. The doctor then takes a needle pumped full of lidocaine and numbs the area. A little harder. Then, he takes a scalpel and makes an incision about half an inch long above the muscle and approximately 2-3 tablespoons of blood starts pouring out of it. Still not too bad. The worst is over. The doctor puts a needle into the incision to extract tiny pieces of muscles, you can't feel anything, then he hits a nerve. The pain is excruciating; it travels from the incision down your leg, to the tips of your toes. The doctor knows you are hurting because you are gasping and the researchers are telling you to breathe. The doctor needs to get his sample. He does it quickly and hopes it is enough. It's not. He finds a new place within the incision, gets more tissue and the whole ordeal is over. He lets you look at the tiny pieces of muscles. He tapes and bandages your legs, tells you he is sorry and that he will see you in 5 days.

Can't wait.

Symtoms Today:
A throbbing left leg, that I'm really not supposed to put weight on. Good thing you don't have to walk at all at airports
Less back and shoulder pain (I haven't lifted any big kiddos for several days)
myotonia in hands from exercises

Screening Day - August 24, 2015

Today, I learned that I can no longer do "tippy toes" with my left ankle. I had a grueling day of physical therapy and tests.

I arrived at 9 am. and met the study coordinators, Susan and Missy. I spent most of my time with Susan today.We went through the entire study and I signed consent forms. We also went through my medical history (which took awhile) and medications (which took harldy any time since I have stopped taking medications that help my symptoms).

After that, I went down a couple of floors to the physical therapy room. When Aulton does physical therapy at the hospital, it usually doesn't take too much time because there are several things he is unable to do. My situation is different. I worked with Evan today and did 2 hours of physical therapy including a 6 minute walk, a very short run, and lots of tests to measure the strength of different muscle groups. For one half of those tests, I used his resistance and the other half I used a table that has a lot of apparatus and is connected to a computer. The table looks a bit like it belongs in some type of adult film.

I also did several tests to examine the myotonia in my hands. For those of you who don't understand what this is, it is one of the most recognizable signs of myotonic dystrophy in an adult. It occurs when the affected person grips something and is unable to release the hand. For instance, sometimes when I shake someone's hand, I can't release my grip and it is terribly embarrassing. I did a few grip tests with a machine, but after resting my hands and letting them "cool down," the physical therapist videotaped me making a fist for 3 seconds and, then, releasing the fist. I usually pry my hand open with the other hand. I was surprised by long it took my hand to completely relax. It could be an interesting party trick.

During one of the muscle tests, I was asked to test the strength of the muscles in my ankles and was upset to find I've lost the ability to raise my heel off the floor with my left ankle. Ankles are typically a very weak muscle in those with myotonic dystrophy.

After PT, I had a very quick lunch (with a divine "Midnight Mousse Chocolate Cake") and then was taken for vitals. I was unhappy with my weight, a little surprised by my height and had excellent blood pressure, as usual. I really need to take up some exercise regime- oh, wait, that is prohibited by the study.

After vitals, I had an EKG. Dr. Nick Johnson, who is the study physician, said this is the area where most people get ruled out of the study. You can only participate in this study if your heart has no conduction problems. My heart is in good shape and passed this part of the screen.

Following the quick EKG, where the most painful part is taking off the stickers, I subjected myself to more pain by allowing an extremely old nurse to gouge my vein and take eight tubes of blood. This blood was taken hours ago, the site is still tender and a nice bruise is taking shape. I'm not a hard stick, so I was surprised by the pain. She had a difficult time getting the tubes full, so much so that she pumped up the blood pressure cuff so much my hand turned purple and went numb.

After drinking some juice, I went and had an echocardiogram with a very nice guy, who visited with me about my family and reminded me just how much I miss them. Susan asked me, earlier in the day, to show her pictures of the kids, which also made me think of how much I want to squeeze all their cute bodies (even Mike's).

After the echo, I was pretty tired. Dr. Johnson came in and was so excited to see that I had passed the screening and is so happy I'm participating in the study. He said "this is a hard study to get into." There are so many who don't fit the criteria or are unable to travel and I am reminded of the blessing it is to be able to contribute the way I am.

Dr. Johnson did a physical exam and did a test called an EMG. This test measures the electricity in your muscles. Typical muscles make no sound. Dr. Johnson has to pull the needle in and out of the muscle 40 times. It doesn't hurt, it does sound like there are dive bombers in my leg, though. It was fascinating.

The last step of the day, was hooking up my 24 hour heart monitor (holter monitor). The pads are already irritating my skin and I'm bummed that I don't get to shower tonight or tomorrow in the amazing shower in my hotel room.

Overall, the day was exhausting, but I feel good about being able to contribute. Cure Myotonic Dystrophy and do ballet while you can.

Symptoms Today:
severe hand cramping from all the typing and hand exercises
some leg cramps
chronic back and shoulder pain
stomach cramps

Drug Trial - Day 0 - August 23, 2015

I'm sitting in a busy terminal with my computer and my mixed emotions. I feel a little nervous,
some excitement and a weird sense of solidarity, although my participation has little to do with myself.

Before I get into my reasons, I want to explain what the trial is and what is happening in my life over the next few months.

Tomorrow, I will begin participation in a drug trial for Myotonic Dystrophy, which is the disease that my son, Aulton, and I have. I'm fairly asymptomatic, but the disease affects essentially every part of Aulton's life. I will be traveling to Salt Lake City every week for over a month, then at two weeks, one month and then, two months (concluding in January).

The drug, when given to mice and primates, stopped the progression of the disease and reversed it. It CURED Myotonic Dystrophy! If the trial goes well for adults, there is a good chance children will be participating in a similar trial next summer. So, a lot is riding on the trial.

First, I want it to be clear I'm doing this for Aulton. Yes, it's selfish, but that's why I'm doing it. Of course, after I thought of him, my thoughts naturally drifted to the other kids affected by this disease. I connect with their mothers through social media and support groups. I have met some of them. I also thought of the hope it could bring to me, as the disease is advancing in my body. If I had a drug that could help me function better, I would be able to better care for my children. This is hope for everyone who suffers from this disease.

When the idea of a drug trial was first presented to me, as something happening in the very near future, I was at a conference in Houston. The excitement was palpable. I was thrilled. However, this trial was not something that had anything tangible I could grab on to. I thought there would be ordinary people in some far distant land doing exceptional work that could prove so valuable for my family. The thought just didn't occur to me that I could play some small part in the work.

So, I'm putting bits of my life on hold and thanking God for this opportunity and for placing people in my life to help me do this. I pray I get the drug and that it works. But, either way, drug or no drug, this is something I need to do.

I will be keeping a brief log of my symptoms as the days pass to document any changes.

Symptoms Today:
myotonia in hands
chronic back and shoulder pain
muscle cramping in legs
severe menstrual cramping
increased weakness in hands
mild tiredness/lack of energy

Speak Up

I have been thinking about Aulton's speech issues for awhile now. His lack of speaking ability was the main reason I had concluded he had Autism. As I have been mulling this theory around, I finally got up the courage to ask his speech therapist, Miss Marisa, what she thought. I had dreaded talking to her about this particular issue because I thought she might have reached the same conclusion. I already feel like I'm drowning half the time. I just wasn't sure I could deal with another diagnosis, just as I was getting a really good handle on the Muscular Dystrophy diagnosis. I don't freak out when people ask me questions or stare at us all the time, anymore. I didn't even over-react when an unusually rude woman asked why I was "allowed" to have a handicap sticker, after I had already put Aulton in the car. I thought the "I love someone with Muscular Dystrophy" bumper sticker warded off those kinds of questions. Anyway, Marisa was surprised that I had reached the conclusion that Aulton had Autism. We talked, at length, about some of the other characteristics that Aulton displays that fit within the Autism spectrum. Besides his lack of speech, I was concerned about his communication with other kids. He does not interact much with other children, but that is common, she said, for kids who have difficulty communicating. He knows, at least subconciously, that he is different and I'm guessing he is quite intimidated by peers' speech and movements that are quicker and more advanced than his own. He does interact with his sister, who is much smaller than him and with a classmate he sees nearly everyday and who we have playdates with. This particular child is less ambulatory than Aulton and is also non-verbal. Aulton also does well with adults, probably because they were his earliest friends due to various therapies he has been receiving since he was 4 months old. Other than those two things, Aulton gives good eye contact, is VERY affectionate and doesn't display many other common Autistic signs.

Aulton is unusually intuitive and will interact with only those who have a genuine interest in and love for him. I think that is one of the precious gifts that God gave him to help me determine who I can trust with him. He is so very close to the veil and I have had some very tender experiences recently that have touched my heart and strengthened my testimony about God's love for him and how very precious Aulton is to Him.

Marisa told me that Aulton probably has speech apraxia. This is good news to me. It's the other thing I had been considering, although I didn't have a name for it. Children (or adults) with apraxia have a hard time combining sounds to make words, although they have the vocabulary. Their minds have difficulty processing the individual sounds to make the words they already know. Aulton knows A LOT. I'm not saying he doesn't have cognitive delays, because he does. I just wish I would give him more credit for the things he knows. He is verbal, it just doesn't make much sense and he is making new sounds all the time. If he has apraxia, it's not that he doesn't have the ability to say words, it's just going to take him a lot longer to get them out because his mind needs more time to process how to fit the sounds together.

The positive things about apraxia are that I'm doing most of the "treatments" already. Children with apraxia are supposed to see a speech therapist at least once a week. We go twice a week. The parents need to follow a very consistent home routine. I do speech therapy exercises with Aulton everyday, after lunch right before he naps. He will benefit from an augmentative device, which we are in the process of getting. He chose a SpringBoard Lite and I'm sooo excited about it! His speech will also be improved by his parents' consistent urging for him to repeat sounds that we make during our daily activities. That is something I have done with him and with Lyla since their births. Lyla's vocabulary is quite extensive for a 14 month old. She says; Lyla, Aulton, Mike, dad, mama, cat, dog, rabbit, Dora, done, bubble, pop, bye, good-bye, hello, hi, yeah, yes, no, uh-oh, oh, outside, go, car, wow, whoa, and probably some other words I'm forgetting. So, since all three us are best buddies and hang out together all the time, he must be processing the same information as she is, he just can't say the same things. Lyla also identifies a lot of objects that she hasn't been able to say yet. Aulton can do this, as well. I know from Aulton's therapy that he knows how to answer where, what and who questions, knows colors, body parts, foods and can identify opposites, among other things.

So, it looks like my theory about Autism has been shot out of the water. Hooray. If it comes up in a few years, hopefully I will be in a better place to deal with it. Right now, I'm encouraged by the apraxia theory and am going to continue treating Aulton as if that is what is going on.

To see a quick video from the Telethon, for those of you who aren't on Facebook, go to http://www.youtube.com/watch?v=DPkRUiWElTE
(I couldn't get it to load directly onto the blog.)
You will note my hopeful attitude about Aulton's eventual speech. I'm so madly in love with him! He is the one of the three most important people to me on this Earth and I would walk through fire for him, but the things I'm doing on a daily basis mean much more than that, I think.

Aulton Updates

I'm not positive anyone reads this blog anymore and I have so little time, but thought I should post a few updates about Aulton, as he's had some changes in his health recently.

Sleep: His most recent sleep study confirmed that Aulton does indeed have Periodic Limb Movement Disorder, as I guessed (literally) years ago. He was asleep for about 8 hours and moved his legs 147 times. Some of those disturbances were jolting or painful enough to wake him several times every hour. Also, he has mild sleep apnea. The doctor who read the report was nice enough to call me to explain the results, as well as talk about possible treatments. He gave me some options to think about and I'm still thinking about them, so I will have to update that later.

Immune System: We found out a few months ago that Aulton has basically no immune system, his immunoglobulin levels were very low and some were absent. He was tested for all the common strains of pneumococcus and we found out that he had no defenses against any of them. Thank goodness for an explanation of the 5 months of sickness he had earlier this year. The immunologist gave him a pneumo-vaccine and fortunately when we went to the doctor today, it showed that his antibody levels have gone up. They are not in the normal range, but pretty close and hopefully, they will continue to go up as the vaccine works in his body.

Orthotics: Aulton is still toe walking a lot. He is still tolerating his day time orthotics and still hates the night splints. He is getting refitted for new day and night orthotics in a few weeks. I wish I could say we were returning to the lower SMOs, but I think he will be in the tall AFOs for a few more years.

Speech: Aulton is attempting more sounds, but still has few words. I'm fairly certain he has autism, but if he does, it doesn't change anything. He's still Aulton, I still love him and am doing everything I can to help him progress. He is going to be evaluated for an augmentative communication device in the next few weeks. This device can be programmed to Aulton and will give him the ability to say hello to people, request foods, activities, etc. It has more options than the PECS he currently uses.

Aulton is still happy, loving and the sweetest, cutest four-year-old I have ever met. I thank God for trusting me to raise him.

Wally's World

I named this post after a paper I wrote in 9th grade, with the same title. I wrote it about my grandpa, Wally, and how I was so proud to be a part of his world. My grandfather, passed away on Sunday, April 11, 2010. I found out as I was driving to drop off some dinner to a friend who had just had a baby.

I'm so grateful for him and his passing has given me the chance to think about what he meant to me. My grandpa always told me exactly what he thought without sugar-coating anything. That part of his personality was sometimes difficult for me to handle. However, he taught me a lot and most of my memories of him are fond.

My favorite memory of him involves his beard. When I was a little girl, my family would visit my grandparents often. We didn't live far from them and I remember sitting on his lap all the time, rubbing my face against his whiskers. I can still feel it and smell him. My grandpa smelled like the combination of Irish Spring soap, aftershave and spearmint. When I was at their home, I would nurse Lyla in his office and just sit in there and cry. The whole room smelled just like him. I miss that smell.
I am so glad that he got to meet both of my children. Aulton has been sick, so he has been staying home from school and therapy this week. As I have been teaching and playing with he and Lyla, I have pictured my grandfather watching us. I think he would proud of the job I'm doing and it makes me want to try a little harder to be more patient and loving.

I feel my grandpa in my heart. He will be there until I'm able to rub my cheek against his again.