Grace and Dignity in the Shadow of ALS
A patient discusses her courageous battle with familial amyotrophic lateral sclerosis.
“Someone said to me, ‘but you’ve lived 20 years wondering when this was going to happen.’ And they’re right. But I’d much rather be me than the next person that’s diagnosed with the sporadic ALS and having to navigate all those waters.”
Amyotrophic Lateral Sclerosis (ALS) is a disease that runs rampant in the family of Karen Delaney Shideleff, 42, of Pennsylvania. From her grandfather to her mother, she estimates that there are well over 30 people in her family who have had ALS, and the numbers are continuing to climb.
Delaney Shideleff’s mother, Lorraine, was only 46-years-old when she was diagnosed with ALS, but with that diagnosis came some questions. Lorraine's father passed away when she was 9 and they were unsure if he even truly had ALS.
Upon further investigation, it was discovered that ALS was indeed what he had, meaning the form of ALS that she carried was familial (FALS).
FALS is determined when more than 1 person in the family is diagnosed. It only occurs in 10% of patients, while 90% have sporadic ALS. Unfortunately, familial ALS is genetic and there is a 50% chance that their children will develop the disease as well.
"My parents were very cautious about not letting my sisters and I, teenagers at the time of my mothers diagnosis, realize that we had a hereditary mutation,” Delaney Shideleff said. “They didn’t think that we were emotionally prepared to learn that, which we weren’t.”
Like many other patients and families, Delaney Shideleff’s family had no knowledge of ALS prior to her mother’s diagnosis.
“My mom’s side of the family is this stoic German family and they don’t talk about anything. There is no need to bring up the past or anything that’s not pleasant,” she said. “So when my mom was diagnosed, we had to learn what ALS was. They just told us the basics, nothing about it being hereditary, and we kind of learned as we went along.”
ALS is a progressive neurodegenerative disease that affects the nerve cells in the brain and spinal cord. When the motor neurons stop receiving messages they begin to die off, causing the muscles to atrophy or waste away. Patients will eventually lose their ability to walk, speak, swallow, and breathe on their own.
As of now there is no known cure and the average life expectancy from diagnosis is 2 to 5 years -- which is a number that varies from patient to patient.
Finding out that she had familial ALS and that there was a likelihood she could pass it onto her children, left Delaney Shideleff’s mother with a feeling of guilt that she never recovered from.
“She went from being this crazy, lively, life of the party personality to completely withdrawn — it was very difficult,” Delaney Shideleff said. “I always say my mom died in 1991, but we lost our mom when she got diagnosed. The thought of passing this on to her children was way too much for her to handle."
After 2 short years, her mother lost the battle and succumbed to the disease at the mere age of 48.
“I was 18 when she died,” Delaney Shideleff said. “She actually died 3 weeks before I graduated from high school.”
It wasn’t until Delaney Shideleff was in her early 20s while she was enrolled in nursing school, that she finally figured out the truth.
“Even after my mom died, it takes a little while for everything to sink in and for you to really prepare yourself to understand more about ALS,” Delaney Shideleff said. “But I just kind of always felt like I was going to get ALS, I don’t know why.”
At the time she learned that she had a 50% chance of getting ALS, Delaney Shideleff was dating her current husband. She then began to think about her future and the right choices she needed to make for herself to live a life as best as she could.
“I just remember saying to him ‘I don’t think I want to have kids because I don’t want to pass this on,’” Delaney Shideleff said. “And we didn’t have kids, we decided not to.”
Following that difficult decision, they had to plan ahead and make choices that revolved around the possibility of her getting ALS. When buying a house, they made sure that it was livable on one floor if need be.
“I don’t really have any regrets with my life,” Delaney Shideleff said. “I know I’m only 42-years-old and this is not supposed to be when someone dies, but I’ve had a very good life and I still do in many ways.”
Delaney Shideleff first started noticing symptoms when she was out walking her 2 dogs on a 3 mile track. It was talking her longer than normal and her footsteps started to sound a bit different to her.
During this time she was already a practicing nurse, so with her medical knowledge and familial history of ALS, Delaney Shideleff started paying attention to what her body was telling her.
Over the course of 6 months in 2010, she found that her legs were getting cramped often and experiencing muscle twitches, especially when she wasn’t well hydrated. Typically, she was able to work out every day without any recovery time, but that soon began to change.
“I started noticing that whenever I worked out, I didn’t recover as well,” Delaney Shideleff said. “I did start to notice that even a run on the treadmill, I had a lot of cramping in my calves. My legs just started to feel really heavy, and my balance was off because my weakness was in my hips.”
After the holidays, Delaney Shideleff finally saw a doctor. In February 2011, she received her ALS diagnosis. Although she has FALS, her disease looks a little bit different than her mothers. Her progression is centrally located on her body, meaning her hips, shoulders, and torso are much weaker than her legs, arms, and hands.
“I haven’t been able to sit on a sofa or get off of a sofa for years now,” she said. “I don’t have the strength to push up and use my hips, so I’ve been in a wheelchair since 2013. I can still stand, but I can’t walk. I can stand and pivot to get to the toilet and things like that or to help get dressed.”
Despite the difficulties she faces with this devastating disease, Delaney Shideleff still tries to make the most of it by laughing and making jokes.
“I call myself a T-Rex because my bicep area is not functional,” she said. “So I only have from the elbows down to work with, I’m like a little T-Rex. My niece calls me auntie T just for fun.
“You’ve got to laugh. If you don’t laugh you’re going to cry, so you might as well just go with it. I make fun of myself constantly, as does everybody else, and that’s just my personality in general.”
Like most diseases it can be a struggle for the patient and their families, and for Delaney Shideleff it’s no different.
“My voice is starting to go a little bit more and my breathing is only about 50% of where it was when I was first diagnosed,” she noted. “So that starts to get a little more bothersome.”
She finds that mornings are her best time of day, because by nighttime exhaustion sets in and her breathing becomes more strained. When Delaney Shideleff goes to sleep, she uses a Bilevel Positive Airway Pressure-BPAP to help with her breathing.
She also uses a therapy vest that helps make sure gunk isn’t building up in her lungs.
“It just does a percussion on the chest wall and that helps loosen everything up for me, so that helps,” Delaney Shideleff said.
Fortunately the power wheel chair that she’s in is covered by her insurance, but she had to purchase other equipment that was not covered. A majority of the ramps were donated by the ALS Association, who even supplied her with a Hoyer lift from the loaner closet program.
In their house, the Shideleffs have celling tracks in the bathroom and a free standing lift that helps get her in and out of bed.
“It looks like a jungle gym in here,” Delaney Shideleff said. “If it was up to my husband he would have ceiling tracks through the whole house and have me on like a zip line constantly. I always tell people I really have the best case scenario for the worst case scenario, because I have the equipment I need, I have a ton of help from family and friends and the ALS Association. I know it’s much worse for a lot of other people.”
When patients are diagnosed and after they have digested what ALS is, adjusting to this new journey can be tough on them and their family members. For the former nurse, taking care of others was something that came easy to her, but it was more difficult for her husband.
“It’s a very different role for him. I am the one in the relationship who takes care of everybody,” Delaney Shideleff said. “He’s the brainy one, he’s the engineer, so he says caregiving does not come naturally to him. I beg to differ, because he does a fantastic job taking care of me. But it definitely has changed the dynamic of our relationship. Before, we always led very independent lives. Having a dependent role upon him is definitely something new and something we had to adjust to.”
What has worked for them in keeping a strong connection and a healthy relationship is being as open and honest with one another as possible.
“So far, we’ve kind of weathered everything and we are very honest with each other,” Delaney Shideleff said. “We promised from the beginning that we would always be honest, even if what we were going to say might be hurtful for the other person to hear. I think it has helped us through the roller coaster of not getting pent up feelings or getting frustrated. He’s honest when he needs a break.”
Fortunately, her husband has help in the role of being a caregiver.
“Good lord, I have an army,” she laughed. “I’ve been very fortunate, I have home care that comes out 3 days a week, and I’ve been blessed to get these amazing women from the health care agency.”
Her sister Kathy also comes down to take care of her 2 days a week, leaving Delaney Shideleff with an hour or 2 alone at the beginning and end of the day before her husband comes home.
“Aside from that, I have visitors and they often bring me meals and keep me company, get me out of the house,” Delaney Shideleff said. “I have a huge family, like ridiculously massive, totally in your face family. I see my other sisters and I have cousins that visit."
Delaney Shideleff also pointed to an enormous group of friends, of whom there are several nurses.
“I think it’s a huge difference for them, understanding the disease process but also being used to talking to people who are not physically well,” she said. “I think there’s not an awkwardness there, which is really great for me. We just kind of slip back into our old roles, which is fun. But I’m never lacking for company, I always say I’m never lonely. And my friends are very honest, nobody’s hiding behind anything. We have very candid relationships with candid conversations -- which to me is necessary."
Although she is grateful for the enormous help, love and support that she receives, not being able to do things for herself can be disheartening. Her sister, who comes over to help her shower, once asked if she liked getting her hair washed.
“I said, ‘It is, I love getting my hair washed. But it’s not nice having somebody in the shower with you, every day,’” Delaney Shideleff said. “There is a frustration level with not having any independence. I’m grateful that I have someone to do it with me and that I’m still getting showered every day, but you know, it’s kind of nice sometimes to take a shower by yourself.
“But I try and focus more on the fact that there are tons of patients that don’t get in the shower because there’s no way to get them into the shower. They’re just not physically strong enough. So I’ll take my co-showering with a grain of salt. It gets a little wearing having people in your house 24/7, but if the opposite were true I would really be in bad shape.”
Although her physical incapabilities and loss of independence can be hard for her, it’s nothing compared to watching the ones she loves hurting.
“Obviously my family having to go through this again is a nightmare and it’s hard on everybody. It’s hard to watch your friends leave you with tears in their eyes. The people I see more frequently, I think it’s a little bit easier on them,” she said. “I have a girlfriend who lives in Texas. I see her only a couple times a year, and to her my changes are so much more pronounced. So it’s very difficult to see that I make people sad and to have my family worry about me. It just seems unfair.”
As of now, riluzole (Rilutek) is the only FDA-approved drug for ALS patients that is on the market. No new drugs have been approved in the last 20 years. Although some patients do not like the side effects that comes with this drug, Delaney Shideleff hasn’t had any issues.
“I do take it,” she said. “I don’t necessarily know that it’s doing anything for me which is fine. One of the main reasons I take it is because when I participate in clinical trials you need to be on a steady dose or off it completely and since it is the only drug that’s approved for an ALS patient, I do think it’s important to make sure that there’s no interactions between the trial medication and Rilutek, so that’s probably my main reason why I take it and it’s not harming me in anyway at this point. I don’t have any liver problems, so if I start seeing any changes in my liver after being on it for 4 and one-half years, then I would definitely stop it. But at this point, I feel safe taking it still.”
Besides being on Rilutek, Delaney Shideleff takes several vitamins and supplements. She takes resveratrol, which is made from the skin of a specific type of grape and is supposed to be a powerful antioxidant that helps cellular repair, as well as alpha lipoic acid, another strong antioxidant.
Recently she started taking N-acetyl cysteine NAC, which is supposed to help with lung function. She wants to maintain her lungs as much as possible in order to qualify for the upcoming trial.
Delaney Shideleff , currently involved in research trials, participated in the antisense oligonucleotide trial back in 2011. The trial was set up to target the SOD1, a mutation that her family carries. The drug had to be redesigned and is supposed to start back up again early this year at Johns Hopkins.
When it comes to trials, especially the one she is waiting to get enrolled in, there are several eligibility criteria that must be met. One criteria is that the patient has to have a certain lung capacity level, and as of now Delaney Shideleff is teetering on almost not being able to qualify.
“My forced vital capacity on my last testing in November was 55% and I have to be 50% or above to be eligible for this study,” she said. “It’s a little scary.”
During the initial trial back in 2011, the medication was given as a spinal infusion that lasted nearly 12 hours. In the upcoming trial, the medication has been redesigned and will be in the form of a spinal injection. The medication is aimed to try and stop the production of the SOD1 protein. Researchers believe that if they are able to stop the toxic proteins, then a patient can live longer.
“When you have a toxic protein like I do, stopping it would basically halt your symptoms and stop the progression of your ALS,” Delaney Shideleff explained. “What they don’t know is the long-term effects of stopping the good portion of the SOD1 protein and what happens in the body when you don’t have it.”
For Delaney Shideleff, whether she is given the placebo or the medication makes no difference to her, just as long as they are able to finish the trial.
“For me, I honestly want them to just have enough people to complete the trial,” she said. “I know that sounds ridiculous, but I don’t even care if I get a placebo. I just want them to be able to finish the trial so that they can go to the next phase. If my sisters wind up being symptomatic at any point in the future or god forbid their children, then this will be a medication that will make ALS a manageable disease if it winds up being something that is approved and found to be helpful.”
Getting ALS patients to participate in a trial is difficult for several reason. Some trials take too long because there is difficulty enrolling participants, there is a fear about being tested on with drugs that aren’t approved by the FDA, and the travel and commitment that is often needed to participate can be unrealistic for some patients.
“The most recent statistic I heard was only about 10% of ALS patients participate in trials and studies,” Delaney Shideleff said. “So not just drugs you’re talking about, just basic studies. I think there’s a lot of myths about the cost and the dangers of participating in trials. A lot of people are afraid to participate in the phase 1 trial because they feel like they’re the guinea pig. I think that, unfortunately, there is a misunderstanding about everything that goes on before a drug even gets approved for a phase 1 trial."
As her symptoms have progressed, Delaney Shideleff had to retire early as a nurse, which has been difficult on her.
“It was very hard to leave being a nurse,” she said. “I love being a nurse, I love working with people, and it’s in my personality to care for people. To have to flip on that and be the one that’s being cared for is very difficult. I feel like a huge part of my personality doesn’t get used because I’m no longer able to go and do a job where I’m helping people. So that’s very upsetting.”
In order to try and fill that void, Delaney Shideleff is actively involved in the ALS Association, ALS TDI, and other groups as well.
“I stay involved in many ways, and I do feel like my brain as a nurse is still being used --- even if my body physically can’t be used anymore,” Delaney Shideleff said. “I do take a little bit of happiness from that and it’s not a complete waste.”
Her family has also been actively involved with the ALS Association Greater Philadelphia Chapter since her mom got sick. Her father served as treasurer for 15 years and has been on the board for over 20 years.
She felt once she got sick and stopped working, getting more involved was a natural transition. Through working with them, she has seen all the ways that they help patients.
“The group there is phenomenal,” Delaney Shideleff said. “I can’t say enough about what the Philadelphia Chapter does for the patients in the surrounding area. Even as far as research and really being very responsible with the money that they have coming in and making sure it’s being put to the best use.”
She is also a part of the board of trustees and serves on the patient and family services committee, where she is able to see exactly where the money is being helped.
“To see the difference that we’re making in people’s lives, on paper — these are the number of people we served, this is the amount of money we’ve spent – it is amazing to look at on paper,” Delaney Shideleff said. “I thought I knew a lot before I joined the board and it’s amazing how much I’ve learned since I’ve joined.”
Delaney Shideleff also is a member of the diagnostic working group for the FDA Drug Development Guideline Initiative, where they are working on a guidance and guideline document.
“The guideline document that we’re working on right now is basically for the FDA to present to industry, and the bottom line is we just want to streamline this trial process and help industry understand why ALS is something good to look into,” Delaney Shideleff said. “We obviously want to draw more attention to it, but we also need people to understand the uniqueness about ALS that we might not be able to have these large number trials and the unique risks that people are willing to take when they have ALS.”
The document is more than 70 pages long and the first draft will be handed in to the FDA in mid-February.
“Right now there is no FDA document specific for ALS, so this is a completely new approach for doing things,” Delaney Shideleff said. “We got the idea from the Duchenne muscular dystrophy group. They did this because it’s very much like ALS — very isolating and a small group of patients. They’re both terminal diseases and they’re very unique situations.”
For those who are newly diagnosed, Delaney Shideleff’s advice is to take some time to yourself first and then join others in the fight to beat it.
“I would tell them to try to sit back, absorb the diagnosis,” Delaney Shideleff said. “Tell the ones that are closest to you first, and let that settle in. When you’re first diagnosed and you’re starting to tell your family and friends it is an absolutely horrendous time -- it’s extremely stressful. Give yourself time to absorb it, give yourself time to grieve what you thought your future was going to be and then I always like to say, put on your big girl panties and get involved.”
Delaney Shideleff added that maintaining a healthy mental outlook is key to fighting the disease.
“Keeping a positive attitude and getting involved in the ALS community really does a lot for your mental state,” she said. “I always feel like even though there is nothing I can do to fight this disease necessarily, I feel like between all the advocacies that I do and doing the trials and the research, it’s my way of fighting back. I usually encourage people when they’re ready to get involved. Give yourself time to grieve and then go out there and kick some butt.”
Although Delaney Shideleff stays as positive as she possibly can and is grateful for the life she has lived so far, she is still human and sometimes days can be tough.
“I’m not going to even pretend like I don’t have a bad time, a bad moment, but I try not to let the moment turn into days,” she said. “I give it its due, I have a good cry, I grieve over whatever that loss is and then I move on. If I dwell on everything I’ve lost, then I’m just going to ruin the rest of my life, and I’m not willing to do that.”