Days 6, 7 & 8 - Injections

There's no place like home.

I enjoyed being home this weekend. I was especially lucky to get to spend three days home before returned to the trial due to Labor Day. Usually, participants have the 2 day weekend and have to return on Monday, so I'm thankful for the extra day I had with my family. We didn't do anything remarkable, except spend lots of time together and my kids were very interested in cuddling with me . I made sure they each got turns spending time sitting on my lap by themselves.

I'm also grateful that I don't have to pay for anything here - hooray big pharmaceutical companies. The Marriott I'm staying in is quite nice, but all I did there was sleep and shower. I was there just under 9 hours. I would be pretty unhappy paying $234 for a room that I didn't even turn on the TV in.

I wasn't in much pain over the weekend. My arm hurt all day Friday (after the injection and some on Saturday). I had a weird reaction, where the site just turned all splotchy red and white. That lasted for several days.



Painful injections today, despite ice
for numbing before and after


I'm got the injections on the other side of my stomach today. I guess I'm just going to rotate (abdomen, thighs, tricep, repeat) because no site is better than another.

The shots hurt more than the last time I got them in my stomach. It took about 19 minutes for the stinging to subside. The ice is supposed to help, but I'm not finding any difference.

Dr. Johnson did a physical before I got the injections. He is interested in my reactions, since each site has had a different type of response to the drug (or placebo).

I wish I could say I'm finding a big difference in my muscles, but so far I'm not. During my physical, I have to open and close my hands rapidly. The first time, there was no problem with myotonia at all. It appeared as if I had normal hands with no muscle issues. Dr. Johnson was impressed and asked me to it again, but it was a fluke and the myotonia came right back. He joked that I had practiced. I didn't so this may be a good sign. It's so hard to tell.

I wish I had more to report, but I'm happy to be heading back in a little bit. I will be back next week.

Days 4 & 5 - September 3 & 4

Walk like an Eygptian....... if Egyptians limp.

This song has been running through my head lately because before I left, Lyla had been asking me about Egyptians. I think her class is learning about them and I introduced her to the song with hand movements and all.

I have a Vivofit pedometer that I'm kind of hyper-focused on most days. I always try to get pretty close to 10,000 steps, which sometimes is very easy, considering how busy my kids are. Sometimes, I run up the stairs a few times at night to reach it. More often than not, when I go to bed, my steps are between 8,500-9,000.

This week, I have spent a good deal of time sitting around. It is not easy for me to do. Yesterday, was a resting day, which I kind of needed because the moment I put weight on my right leg (the leg I got injections in), it hurt. It hurt every time I took a step. I decided I wanted to go to Trolley Square to see what was new and I also had fun lunch plans with my cousin, Machelle, in Bountiful. I also went to dinner and to the Salt Lake City LDS Temple with my dear friend, Becca.

So, last night, when I was ready for bed, I checked my step watch and realized I still ended up walking 7509 steps. So, my right leg, where I got the injections, hurt about 3700 times yesterday. It still hurts today when I walk....not as bad, though.

As I thought about it, I became a little discouraged. I didn't want to walk yesterday, but did out of necessity and desire. I imagine Aulton would feel the same. I don't want him to be in pain for days. It makes my heart hurt thinking about it. This is probably the most difficult thing about Aulton's various diseases: his inability to talk and tell me how he is feeling. He goes through so much; more than me, more than my husband and more than my other kids. His little body honestly goes through more than most adults. His muscles most likely hurt all the time, I don't want to make things worse for him, but it will really depend on what kind of results the medicine produces in the long run (in all the participants). It's so hard thinking about, though, because just like the infusions we give him every week, he won't understand why I keep doing things that hurt him. And, that is hard, it just is.

Baby Mark

But, this is important for everyone affected by this disease. One truly bright spot, a tender mercy, if you will, happened on Wednesday (day 3). I met Keith Taylor, whose son, 6-month-old, Mark, was here, from Anchorage, Alaska, for the study. Kids with Myotonic Dystrophy have a marked hypotonia. Sometimes people call them "floppy" babies. Aulton felt this way and although it is an indication of the disease, it makes for a super snuggly baby that just kind of melts into you. I got to hold Mark and while he was tucked up against me in his melty way, my heart also melted. I got a chance to hold
Aulton again. It was heavenly and time just seemed to disappear, while I looked at this baby and thought of his future. I know it's going to be hard, but this made my work and the drug trial all that more important. Just like when I met, Dallen, last week, this is beyond me and my littlefamily's life. I want to thank Keith and Nikki (she has a great name, right?!) for sharing their baby with me. It made my day of walking easier to bear.




Injections in my left arm

Today, I got injections in my left arm. I ended up with two pretty good size bruises on my leg from the injections there 2 days ago. The arm is the third option, so I wanted to try all three sites to see which I like better. Also, when Dr. Johnson came in today to do my physical, he said that all the data I'm providing them (which includes pictures of my reactions, stinging time, etc.) is helping them to determine how to make the shots more comfortable. This was good information for me to have because I know Aulton is tough and he would be ok, I just want it to be as easy for him, as possible, when he gets the drug. FYI- Myotonic mommies - a woman in Utah gave birth to a baby, this week, with this disease. Dr. Johnson asked me for our Facebook group, I told him about the congenital one and he is going to talk to her about it today. I know you will all do great in welcoming her. Her baby is in the NICU.  
So, the shots felt about the same, although the insertion of the needle hurt a little less in my arm than the other areas. As I'm getting the injection, the last ML of each needle really starts stinging, no matter which area gets the injection. The burning on the arm lasted longer than the other sites, too, about twice as long at 15 min. I will have to see how the arm looks tomorrow to determine whether I want to walk around with the redness, bruising and swelling for everyone to see.

So long, Salt Lake City, see you in 3 days. Cannot wait to see my beautiful family!!!

Symptoms Today:
This is the most exciting one--- I was able to slightly lift my left ankle off of the floor into a miniature tippy-toe. I don't know if it was because I was super determined to do it, or if I got the med and it is working! I had a lot of calf cramping after, but I did it.

muscle pain in my left quad- all week, so weird

muscle pain in my right quad from injections

bruises from blood draws on right and left arms

bruise on my stomach from injection

pain in my left tricep from injection

Overall muscle pain - very mild (possibly due to inactivity) It will be interesting to see how it goes in the coming weeks, as I have short trips to Utah and am going back to my regular routine of taking care of my kids. A quick aside- my respite workers are gone. Kylie got a full-time CNA job and Wyntre is going back to BYU-I next week. I have no prospects and am not hiring someone new, so I will be doing the daytime stuff all alone. So, we shall see how this pans out, in terms of muscle pain.

Days 2 & 3 - September 1 & 2

No news is good news.

There isn't much new to report. The sites of the first injections are doing well. They were still very red yesterday. The redness is gone, hard lumps have formed under the spots where the needles went in and they are still tender, if I push on them.

Yesterday, I had another ekg. Heart problems are very common with myotonic dystrophy patients, so I'm going to have a lot of ekgs throughout the rest of the study. They need to make sure the medicine is not affecting the patient's heart. I also had to give a urine sample and more blood.

This is going to be the protocol for most of my other visits.: ekg, samples, dosing and home.

Yesterday, when I was in the hospital, right after I had woken up, I had some brief moments of muscle tingling in my legs. I didn't notice it and wasn't looking for any physical reaction to the medication. I did notice, when it happened a third time and was powerful enough to make the biopsy site start throbbing a bit. It wasn't painful. I don't know if this was a result of the meds or not, but I thought some might be interested since this is not a common muscle experience in my body. I mentioned it to Dr. Johnson, but like I've said, he's not allowed to offer opinions. I tried to stand on my tip-toes this morning, while I was getting ready and even though I was able to with both feet, I still couldn't do it with my left foot alone and my calves still cramped when I did it with both feet.

Yesterday, I went to lunch and did a tiny bit of shopping, but I didn't really feel very good and I was very tired. I don't think it has anything to do with the medicine. We have some extra stress in our lives right now, I had two very poor nights of sleep (with the late plane travel and the night spent in the hospital). And, I had all those blood draws.

I did find out that due to the amount of bleeding I had from my muscle biopsy site last week, Dr. Johnson made a new rule that patients participating in the study cannot fly immediately after the biopsy. He doesn't know if it bled so much because of all the walking or pressure changes or because I accidentally bumped it with my suitcase when I was unloading it from the overhead bins. The biopsy is a bit inconvenient because I'm not allowed to get it wet for 2 weeks. The incision is covered with steri-strips and a breathable plastic bandage. I decided that I was going to put big waterproof bandages over that area for showering. It worked fine, but the bandages are so strong they are stuck to the plastic, so I guess I will just keep them on until next week, when I can take off all the coverings.

Today, I came in to give samples and get another dose. I've got a new nurse today, who did a good job with the blood draw. She found a new vein because the draw yesterday was done on my bruised vein and one of my veins is still stressed from the IV.

I feel like my body is getting a little beaten up. I chose to do today's dose in my right quad because I'm still having pain in my left. So, I have the biopsy and pain in my left leg, new injection pain in my right leg, injection lumps and tenderness in my stomach, a bruised vein and 2 additional needle pokes in my left arm and another bruise on my right arm and one more needle poke.

The dose felt about the same as on Monday, the burning lasted the same amount of time - 7 minutes - but was less intense.

1st injection of the second dose

2nd injection


Symptoms Today:
as outlined above-
tenderness in abdomen
bruises in arms
pain in right leg from dosing today
muscle pain in left quad
calves, neck and back are good
 

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