Left ventricular assist devices (LVADs) are fairly new to the pediatric population and are very new to the Duchenne community. So new, in fact, that, in the fall of 2012, only three patients have had LVADs implanted worldwide. As dilated cardiomyopathy and heart failure remain the major cause of death in patients with Duchenne, this novel therapy could possibly have far reaching effects. Below are two LVAD stories, from two different perspectives: first a young man with Duchenne (Jason) and then a young woman who is a manifesting carrier (Susie). The two met recently, as you’ll see from the pictures included below. It was an emotional meeting for Susie especially, who considers Jason a hero for being the first person with Duchenne to have a VAD implanted. Read their stories…
Twenty nine-year-old Jason was the first patient in the US with Duchenne to have a VAD implanted. JW was first diagnosed with Duchenne at the age of seven. He had been treated with milrinone (a cardiac medicine that helps the heart squeeze) in an effort to improve his cardiac function for the past five years, but the milrinone appeared to be losing the battle of assisting the heart to keep up with the body’s demands. In July 2012, he was seen in an outpatient clinic, and was found to have worsening cardiac function. Jason had been researching left ventricular assist devices on his own, so he was not surprised when this option was presented to him. What was a surprise was how fast he was to have it implanted. Jason’s first choice was to wait until after the holidays, however the hospital wanted to keep him out of the hospital during the winter, when respiratory infections are at their peak. After much research and consideration, Jason agreed to the procedure, and received the LVAD in September 2012. I met with him and his mother about one week after the procedure, and again at two months, to gain their perspectives.
KK: This must have been a really scary choice. And you realized that you were the first patient with Duchenne to receive a LVAD in the US. What made you agree to this procedure?
Jason (JW): I knew I was first. But I also knew that I was the first of many other patients who might benefit from this therapy. My younger cousin has Duchenne, and, eventually, he will probably also have heart failure. I thought that the surgeons could learn from my case and apply what they would learn to future cases. By the time my cousin would need a LVAD, they would know far more than they know now, which will be better for my cousin. It was a hard decision.
KK: Are you glad you made the decision to have the VAD and would you do it again?
JW: Yes and no. One of the reasons that I had the LVAD placed was the hope that after surgery I would have more energy. I can’t say that I have more energy now. It’s only been 2 months, so maybe that will change. Also, for patients who feel “bad,” there is the hope that they will “feel better.” Other than not having a lot of energy, I didn’t feel “bad” before surgery, so I’m not sure I would notice if I did “feel better” now.
KK: What do you think went well with the procedure?
JW: Well, the LVAD is in and it is working! So that’s good. The surgeons were experts in the LVAD, in placing the LVAD, and then following the LVAD.
KK: What do you think could maybe have gone better?
JW: I wish the surgeons and team would have researched my disease a little more before placing the LVAD. While they were experts in LVAD placement, they knew very little about Duchenne.
Mom: For example, usually they place the LVAD and leave a small open pocket in the chest wall. I noticed that it wasn’t healing and asked about it. The response was that usually the muscle heals over the area. In Duchenne, the muscle is not going to heal over the area, so that area continues to be a problem.
JW: After the surgery, they thought there was a clot in the LVAD, so I had to go back to surgery. I was told that this was a risk, but not very likely to happen. Also, they had a hard time getting the breathing tube out. It took almost a month and three tries to extubate me back to using my sip vent. Unfortunately, this damaged my throat and my ability to swallow, and I am no longer able to eat solid food. My next surgery will be to place a feeding tube. I was told about the risk of complications, but the team was pretty sure that these things were unlikely to happen. I think I could have been better prepared.
After the surgery, I had a hard time dealing with the fact that I really didn’t feel any different or any better, that I wasn’t at home and that I couldn’t eat (I really liked eating).]; I became depressed. I had been on a low dose of antidepressants before the surgery. When I told the team how I was feeling, they agreed to increase my dose, and I have been feeling better. I appreciate that the staff was aware of my emotional state and worked to help me feel better.
Mom: I think the staff underestimated Jason’s lung dysfunction before surgery. After surgery, breathing was a big issue. It took some time for the team to realize that he was going to need to be followed and worked with more closely if we were going to get his pulmonary function stabilized and him off the ventilator. Once they realized that, Jason started to do much better.
Also, I’m not sure that the staff realized how much care I had been providing for Jason. He lost his ability to walk at 11 years old, and I left my job two years ago to care for him full time. After the surgery, it was “protocol” to move out of the cardiac intensive care to the cardiac floor for a few days. When I asked why, I was told it was so the staff could make sure I knew how to care for Jason. I have had a lot of experience caring for Jason, and I wasn’t sure this was at all necessary. I was told that this, as well as other procedures, were “protocol.” At other times, I was reminded that really this whole business was experimental. It became confusing and sometimes frustrating that procedures could be both protocol and/or experimental. At one point I think I became frustrated and told them they had to pick one J and that we wanted to go home.
JW: It was difficult to get the team to let us go home.
Mom: Yes. They had taken such good care of us and they were afraid that we would get home and there would be a problem; that an alarm would go off or that there would be a problem with the battery. Jason has had so many problems for so long that we are used to dealing with emergencies. When I outlined the plans that we already had in place, and reminded them that emergencies could happen this week or next year and that we really could not stay here indefinitely, they all agreed that it was time we went home.
KK: How hard has it been to take care of the VAD?
Mom: The VAD has not been hard to care for. What is hard, is finding other people, beside me, who are comfortable taking care of Jason and the VAD. I love Jason, but I can honestly say that, since October, I have not been out of the house alone for more than an hour. And even then, there were phone calls. It is important to have other people who understand this care so that you can get out at least occasionally.
Also, I was not aware of how much care the blood thinners (Coumadin) were going to require. For the past two months, we have needed to go to the local hospital to have blood drawn to check bleeding times 1-2 times a week. Getting Jason ready, into the car, to the hospital, in and out of the hospital, and back home 1-2 times a week has been quite a workout. In addition, the team wanted to see him in clinic once a week. We live an hour from the hospital, so this trip in addition to trips for blood draws have kept us extremely busy. Hopefully this will slow down as he begins to stabilize and the team becomes more comfortable with how he is doing.
KK: What would you tell a family considering a LVAD?
Mom: I would tell them, if possible, talk to a family with Duchenne who has been through this and have had a LVAD placed. There are so few centers that are experts in both Duchenne and LVADs, and centers need to know about both to do this well. There are just so many factors to consider. After everything that we have been through, I would love to be able to talk to families considering this option. There are just so many things to think about and it’s so hard to keep everything straight in the moment of crisis. With all of our experience, I hope we can be a resource for future families.
JW: I agree.
In the winter of 2013, Susie also had an LVAD implanted. This is her story:
KK: You are a manifesting carrier, which, as you know, is pretty rare. When were you diagnosed?
Susie (SA): I remember always being a little slower than my friends. Because I was a girl, I don’t think anyone considered I might have Duchenne. When I was 5 years old, an observant teacher noticed that I wasn’t keeping up with the other kids in gym class. After multiple tests, I was diagnosed with Duchenne (deletion of Exon 50).
KK: So tell me your story.
SA: I am a 23-year-old college student. I have an associate’s degree, and my dream is to get my bachelor’s degree and teach elementary school. I was fully ambulatory and feeling great until about two years ago. A fall fractured my vertebrae (L5) and left me immobilized in a back brace for six months. After that, I had difficulty walking and began using a wheelchair. I am still able to stand using a stander, and have pretty good function of my arms.
KK: When did you know that there were issues with your heart function?
SA: About a year ago, I received a call after an echo from my cardiologist, who just said that there were some “issues” with my echocardiogram. You know, when you’re an adult, they don’t call your parents – they call you. I was the one who had to tell my parents that my heart was in trouble. So we all went in to see the cardiologist, and they started medicines. But my heart just kept getting worse. This past fall, I was told that my ejection fraction was below 10% and that, other than medications and comfort care, there was nothing that they could do. I had read on the PPMD website about Jason receiving an LVAD, and asked if an LVAD could be an option for me. The doctor said no, simply because I had Duchenne; that the device was expensive and that insurance companies wouldn’t approve an LVAD for someone with my diagnosis.
KK: That must have been really hard to hear.
SA: I was so, so angry. And, because of Jason, I knew it wasn’t true! I started to investigate – I began e-mailing and gathering resources –trying to figure out how I could get an LVAD as well. I did a lot of research and watched every one of the cardiac webinars, trying to get all the information that I could. My parents were very supportive and knew I just wasn’t going to take ‘no’ for an answer. This fall, the cardiologist decided to do a cardiac catheterization. When I woke up, he was standing over me, very concerned, which was not his usual demeanor. I knew something was wrong. Finally, he said that my ejection fraction was much worse, and was now less than 5%; he was afraid that I wouldn’t live through the night. How do you tell your parents that you might die that night? And what made it even more confusing, was that I looked like I felt fine – my color was good, I felt fine, I had no symptoms, but I had just been given a death sentence. That was a very difficult conversation. I was admitted immediately to the CICU and started on milrinone. Thankfully, I responded to the medication, and not only lived through the night, but did very well for several weeks. But I knew that I didn’t have a lot of time to waste. My cardiologist asked me if I knew what the next step was. I’m sure that he thought that I would say “end of life comfort care,” but I said, “I need to go get my LVAD!” I started to make plans to travel to get the LVAD immediately.
KK: What did your cardiologist say?
SA: Interestingly, when I said I had found a hospital that would implant the LVAD, he suddenly decided that maybe he could put in the LVAD after all! But I wasn’t staying there. I needed to go somewhere that was confident that they could do the procedure successfully and somewhere that had experience with both LVADs and Duchenne. At first, I was afraid that if I got the LVAD at a different institution, that my local cardiologist wouldn’t follow me for care after. But there have been many discussions and he has now agreed that following me at home would be best for everyone.
KK: Did you have any issues traveling or getting insurance approval?
SA: I spent a month on the phone with Medicaid convincing them to pay for the LVAD out of state. That was frustrating, but I was persistent. Finally they agreed. Then I just bought a plane ticket and we were on our way. I was a little nervous to go through airport security with my milrinone and the pump, but no one said a word. When we got to the new hospital, everyone was amazing. I was seen in clinic and admitted that same day. The attitude was completely different and I knew that I was in good hands. I felt like they were taking care of me, like I was part of their family. I really have nothing bad to say about my care here – everyone has been so kind and has taken such good care of me.
KK: Have there been any issues?
SA: No – thankfully everything has gone very smoothly. I had good pulmonary function before the surgery. I am now using BiPAP at night and I use a sip vent during the day if I need it, but I think I may not need to continue using it for long. I am also using a cough assist to help with my lung function. I haven’t had any difficulty eating and everything seems like it is back to normal.
KK: Will you get to go home soon?
SA: I will be here in town for 2-3 more months, but outside the hospital. After they are sure that I am stable, I will go home and be followed there. I will need to come back once a year for a full evaluation.
KK: How do you feel?
SA: I feel amazing! I didn’t realize how sick I was, but everything is completely different now – I can breathe lying down and sitting up, I can sleep through the night, I have energy, I have my spirit back. I had completely lost hope that I would ever become the teacher that I have always wanted to be – this device has given me back my life, and has given me back my dreams.
KK: Do you think the team learned from the first LVAD implantation with Jason?
SA: Jason is my hero, and I am thankful to him every day. I can’t imagine being “first,” how scary that must have been. But without him and his story, without his being “first,” I would not be here today. Without the experience that this team gained from his procedure, I might have never had gotten the LVAD, or the procedure would not have gone this well. Jason saved my life, and I can’t wait to tell him how grateful I am for his courage.
KK: Why is it important for you to tell your story?
SA: I was told that this device was not an option for me, simply because I have Duchenne. No one should be told that they don’t have options if those options do, in fact, exist. I realize that the LVAD, and even transplant, aren’t options for everyone, but it was an option for me and it wasn’t even being considered. I want my story out there so that everyone knows that there are options – so that if there are available options that could save their life or the life of their child, that those options are at least considered. Duchenne is so variable. Other than my heart, I am a very healthy and capable person. Just having a diagnosis of Duchenne should never have taken the option of an LVAD, or transplant, off the table.
If you have more questions about the use of LVADs in Duchenne, please do not hesitate to email me at Kathi@ParentProjectMD.org or reach out to one of the cardiac experts below:
David Luís Simón Morales, MD
Cincinnati Children's Hospital Medical Center
Office number: 513-636-4770
Washington University Medical Center
office number is 314-454-6165
Robert "Jake" Jaquiss
Duke Medical Center
Office number: 919-681-2343
Voice mail. 919-681-2344
Email - Robert.firstname.lastname@example.org
Nationwide Children's Hospital
Office number: (614) 722-3102 (Enjoli Bova)