Tag Archives: Rare Disease Support

A New Sense of Normal

This post is a very personal one. It’s one that I’ve been wanting to write for more than two years but it’s been too hard, and although I’ve attempted, I’ve never gotten through it before. This is not about clay, but it helps to explain why I sometimes disappear from writing for periods of time. It can feel disingenuous for me to write here without acknowledging this part of my life. It’s something that takes up a big part of my mental space, and is hard to casually reference.  But today is a good day. Today I can write the words that I’ve tried to write before. The tears are still there. But hope pops up and helps push them away so I can continue to write.

Ian, Shiya, Emily and Ayrie

It’s not the kind of good day that you expect to be excited about, but it’s a day that we’ve resisted getting our hopes up for. Today marks 9 weeks since my four year old nephew, Ayrie, last had surgery. This is the longest that he’s gone without surgery in more than 2 years. He’s had 19 surgeries in 2 years. Today can be celebrated because of my sister, Nora, fights tirelessly for her son, and thanks to Ayrie’s amazing surgeon, Dr. Hartnick at Mass Ear and Eye (MEEI) in Boston. And it’s thanks to all the friends, family and supporters who have helped emotionally, physically and financially to help Ayrie get the treatment he needs.

Just over two years ago, we received  news that totally changed our lives. My nephew, Ayrie, just before his 2nd birthday, was diagnosed with RRP: Recurrent Respiratory Papilomatosis.  It’s a rare disease that is caused by the HPV virus. It causes tumors/growths on the vocal cords, which if gone untreated can block the airway and cause suffocation. It is something that  is often misdiagnosed as croup, asthma or pneumonia. In fact, 2 months before he got this diagnosis, he was diagnosed with Croup, and it didn’t respond to treatment. We can’t know if he had Croup or not, but we suspect that he didn’t. The diagnosis of RRP was stunning to us, but we’re lucky that he was properly diagnosed when it was. He was diagnosed after he and my sister had moved to Chicago to be near me and my husband Ian. If they had lived in a different place, it is possible that the physicians wouldn’t have known what RRP was. We had never heard of this and most of what we learned about RRP in the beginning wasn’t very accurate. When something is so rare, there are lots of individual cases, stories, treatments, but that doesn’t add up to the whole story. We’ve been blindly swimming through the world for the last 2 years. Our lives over taken by this disease. Struggling to get through each day, fighting for health insurance, fighting for Ayrie’s health.

Ayrie on his 2nd birthday. One month after his initial diagnosis.

Ayrie has had surgery every 4 to 6 weeks since his diagnosis, and occasionally more frequently.  Surgery is the treatment for RRP. Mostly, it’s “on-going maintenance,” removing the growths to clear his airway, but the growths return until his body figures out how to fight the virus on its own.  There are different kinds of lasers that can be used, some surgeons use a mechanical device. There are a few kind of drugs that can be used during surgery but they almost all have major drawbacks (an understatement), such as being toxic or carcinogenic. After maintaining his condition over a year and a half, without it getting any better, my sister reached out to a surgeon in Boston. Dr. Hartnick is the top physician treating Juvenile RRP. When he first saw Ayrie, he told us it was one of the most severe cases that he had seen. That is a heavy statement. He skillfully removed a huge amount of growths, and used a new experimental drug in conjunction with the surgery. Interestingly, it was the same drug that Ian’s grandmother has injected into her eyes to fight Macular Degeneration with success, which is also experimental. The standard use is to fight Colon Cancer.

The first surgery with Dr. Hartnick happened just a week after we moved to Minneapolis last July. Nora and Ayrie flew to Boston while his little brother Shiya stayed home with me and Ian. My mom met them at the hospital in Boston which is 2 hours from my hometown in New Hampshire.

A few weeks after that surgery, Ian and I were away at a family reunion in the mountains of upstate New York with most of Ian’s family. We had moved to Minneapolis, where Ian’s family is, in large part to expand our support network.  But it was the one time of the year that almost everyone that we knew in our new city was away at the same time, leaving Nora home in a new place without her support net. While we were gone Ayrie was having severe breathing problems and Nora had to take him to the emergency room. She didn’t want to “bother” us while we were on vacation, so we didn’t find out that there were any problems until Ayrie had already been admitted. It broke my heart that we weren’t there. Actually, that doesn’t even begin to describe what I felt. I was crushed. I couldn’t breathe. The image of Nora in the emergency room, completely freaked out with a 3 year old with severe breathing problems and his 1 year old brother (being a typical one year old), was an image that I couldn’t shake. If I was feeling this way, half way across the country, I was afraid to even imagine what was happening in the emergency room. No one was there with her. The first thing I did was make some phone calls while driving down winding country roads. Some amazing friends (that I knew, but barely knew Nora at that time), picked up Ayrie’s brother Shiya so Nora could focus on Ayrie’s care.

What happened over the next days was the hardest week of our lives.

The surgeon here in Minneapolis that specializes in RRP told Nora that he believed that Ayrie’s air passage was severely narrowed by scar tissue from all of his surgeries. To correct this he would have to undergo a surgery to open his air passage up. The tissue would have to be held apart while it healed, using an intubation tube.  This would meant that he would be put into a drug induced coma for at least a week. When he was brought out of it he would be addicted to opiates and would need to be weaned off of them with Methadone. All this to a 3 year old. After that he would be “out of it” for several months. He would also permanently lose his voice. And the surgeons thought there would be a 50% chance that he would need a tracheotomy.  For someone with RRP a tracheotomy means cutting through healthy tissue and giving the virus a path to spread, possibly moving down his into his lungs, which would ultimately be fatal.

At the time that Nora was getting this information Ian and I were heading to the airport to catch the first flight back to Minneapolis.  24 hours had passed since we had first gotten the news, it was the fastest that we get a flight.  While we were at the airport, we heard more of the story of what was going on. My sister and mom tried to not tell us the extent of the bad news until we were back in Minneapolis, but I knew that the news was bad, and they finally told us what was going on while we were on a layover in Chicago. On the plane, Ian and I were doing everything we could to keep from sobbing. An incredible flight attendant sat down on the edge of the 3rd seat in our row, greeting people, and making sure that we had the row to ourselves. It made me realize the impact that such a simple, unspoken gesture could have on someone. The rest of Ian’s family followed the next day, knowing that they couldn’t be on vacation while this was going on.

When Ian and I got back to Minneapolis and rushed to the hospital it was an odd experience.  At first we came in to the hospital room, Ayrie looked zoned out lying on the bed with his gown on and with a variety of tubes and monitors attached to him.  He gave us a big smile, and with all these accouterments and with all our fears having built up on our way home it seemed terribly sad.  But then five minutes later he was playing on the floor with us and everything seemed like it always was, except we’re dragging around an awkward IV drip.  These stories, what we heard from the surgeons and what we saw in person, just didn’t add up. It was impossible to imagine him laying in a hospital room for weeks on a ventilator. And it was too painful to imagine him not being able to speak. Not even in a whisper, ever again.  And we couldn’t bring ourselves to even imagine the worst.

Ayrie in the hospital, right after surgery.

When you get a prognosis and treatment plan like that, there is no question than to get a 2nd opinion, right?  But the only pediatric ENT’s (Ear Nose and Throat surgeons) in the area who treat RRP are part of the same surgical team who devised the drastic treatment plan. When Nora spoke to the other members of the team they just agreed with the head of the practice. Not really a 2nd opinion. There is a surgeon at the Mayo clinic that Nora wanted to consult but she was away on vacation for 2 weeks and unreachable. Dr. Hartnick was also on vacation for 2 weeks, but we were able to get touch with him and he agreed to speak with the surgeon in Minneapolis. But the Minneapolis surgeon had no interest in talking or discussing the options. He actually refused to consult with Dr. Hartnick on Ayrie’s case. It was clear that his ego was getting in the way. We had to take the scans of Ayrie’s throat, bring them home, scan them and send them to his office in Boston. And relay the information ourselves, knowing the what possible consequences of a misstatement could be.

Dr. Hartnick, while on an out of state family vacation, wanted to hear about what was happening with Ayrie. His office forwarded the scan of Ayrie’s throat to his cell phone. He diplomatically said that he couldn’t tell much, but he didn’t think it looked like scar tissue.  On top of that, he said that he couldn’t remember the last time he had to do a tracheotomy on an RRP patient and he offered to leave his family vacation for a day to perform Ayrie’s surgery.  That was more than enough hope to go on. That was actually more than we’d even consider hoping for at the time. The hard part now was at the hospital in Minneapolis. They didn’t even want to let Ayrie travel 5 blocks home, much less fly all the way to Boston. And the surgeon told us that if Nora took Ayrie out of the hospital against his recommendation she would have to do it AMA (against medical advice) and that he would not ever see Ayrie again. Even if they came to the ER (which really is only 5 blocks from our house) and he was on duty. Is that legal? It’s definitely not ethical. What do you do in that situation? Everything in your gut, your heart, and your brain is telling you that the best thing to do for this child is to bring him to Boston. But we’re in the hospital in Minneapolis and the surgeons there are telling us that they can either be Ayrie’s primary physicians or they won’t see him at all. My sister made one of the hardest and most brave decisions that she could have. What’s the point of having the ability to come back and see these doctors when they don’t allow you to get a second opinion, even with  the severity of what they wanted to do? Over the past year, we have renovated our entire home, top to bottom, inside to out. And for each thing that we needed to do whether it was work on the plumbing, having the yard graded or having flooring installed, we got a minimum of 3 bids. It wasn’t just about the price, it was about getting 2nd, 3rd and 4th opinions on what the diagnosis of the problem was, the scope of the work and the suggested fix. Why are we intimidated to get 2nd opinions when it comes to our health? So much more is at stake.

With the decision made, we quickly packed up everything in the room and headed home. Three plane tickets were bought for a flight that was leaving in just hours. Ian went with Nora and Ayrie as support for them.  Ian described the arrival in Boston as surreal, a late flight arriving to a mostly empty airport, the tension he and Nora were feeling about what they’d learn tomorrow… but a big airport with no one around is too irresistible and Ayrie just ran back and forth, giddy after being stuck in a hospital room for a week, and even though the two of them felt like they shouldn’t let him get out of breath, it seemed too wrong to stop a kid from being a kid.

Ayrie giving his Grammy a tour of the hospital

Ayrie was admitted to the ER and brought up the the adult floor in the hospital because the pediatric floor was closed.  A pediatric nurse was called in just to be with Ayrie that night and was both a nurse and a comfort to Nora, Ayrie and Ian.  My mom met them at the hospital first thing in the morning. Dr. Hartnick left his family vacation and his fellow assembled a top notch surgical team on a Sunday (a non-surgery day at their hospital). After 5 minutes in the OR with Ayrie he called Nora on the phone in the waiting room to let her know that everything looked fine. That there definitely was not any extensive scarring and that nothing drastic had to be done. This still amazes me that he did that. He knew what we had been through over the past week and didn’t want to prolong the agony any more. Instead of waiting for the surgery to be over, he took the time to reassure the mom that everything was okay.

Ayrie looking out at the Charles River at the hospital in Boston

Dr. Hartnick also suggested a new treatment that had never been used on an RRP patient before. Because RRP is such a rare disease, experimental is our only hope that things will improve, as opposed to just maintain. He had read an article about young babies on a blood pressure medicine due to heart problems.  Coicidentally some of the babies also had tumors from a different cause. The blood pressure medicine miraculously shrunk the tumors in these babies as an unexpected side effect. The drug is Propranonal. It’s been around for a long time, and it has few side effects. Dr. Hartnick made the connection between these other tumors and RRP and started Ayrie on the medication. Ayrie takes it twice a day by mouth. This is the first time a non-surgical treatment has been used for RRP: there have been other drugs used, but they are always injected at the site of surgery. No one knew if this was something that was going to work, but it was definitely worth a try. There was nothing to lose.

Thanks to this new drug, which Ayrie calls his”magic medicine,” and his surgeon, the time has stretched out times between his surgeries over the past 9 months. Theoretically (and hopefully), this could continue to happen. We’re now at 9 weeks since the last surgery. A marking point that we were not sure we’d ever see. We’re now hoping for at least another 3 week to make it to 12 weeks until the next surgery. We have hope because over the past couple of weeks Ayrie has begun to speak slightly above a whisper for the first time in 9 months. He is over the top excited about this, and we well up with happy tears when we hear him projecting his quiet voice.  This development is something that gives us the ability to hope for 12 weeks. The longer he can go between surgeries, the longer his voice can rest and have some recovery. He will never have a ‘normal’ voice, but the fewer surgeries he has, the less damage will be done and the more strength his voice will have.

Last year, when we decided to move to Minneapolis from Chicago, a big part of the decision was to be able to have a home that we all could live in. Both Ayrie, Nora and Shiya need a huge amount of support. So Ian and I bought a duplex and made it into a space where we all could live. We live within 2 miles of Ian’s mom, dad, sister, and her spouse who are a constant presence in his life. We didn’t really know at that time we moved what the next step for Ayrie’s treatment would be.  The care Ayrie received in Chicago was competent, but despite that, his health seemed to be getting worse, not better.  We didn’t know what the next step was: Boston, Denver, Seattle, Mayo?  We were lucky that Nora was able to find a great doctor and hospital in Boston; it would have been serendipitous had it been near Minneapolis, but it wasn’t, and we always knew we’d send Ayrie wherever we had to to get the treatment he needs. But it means a lot of traveling for Ayrie and Nora.

Weirdly Ayrie doesn’t mind the surgeries.  He actually gets excited about going to Boston for a surgery.  He goes to new places and he gets his mom’s and grammy’s undivided attention, and though he’s uncomfortable immediately after surgery it doesn’t seem to last much beyond that.  He was starting to develop strong fears about anesthesia — a fear of masks and of the sound of gas, apparently common things for children to fixate on. He was having panic attacks when the defrost was on in the car because of the noise, or if he saw steam, it would trigger the fear.  But since he’s been going to Boston even that has gone away (the anesthesiologists at MEEI are also some of the best).  The thing that affects him most is that he can’t speak above a whisper. We haven’t given up hope on that improving, and he’s learning ways to cope, and his language skills haven’t suffered at all. All of the people close to Ayrie are especially tuned into his whisper. But it is a hardship at school, in large groups, out in public. Ayrie deals with this remarkably well, but it’s something that we all have to work on. Nora is in constant dialog with Ayrie’s preschool teachers about how to handle this in school. We are constantly trying to figure out ways to help him communicate. He’s worn a whistle so he can get attention if he’s in trouble, he knows quite a bit of baby sign language, but it only helps if someone else knows it too. One on one play dates are important for him to develop relationships with classmates so they will more easily be able to tune into his quiet voice.  He’s learning exercises to help the strength of his voice. There is a Pediatric Voice Specialist in Boston that he’s begun to see. Part of the exercises include playing the kazoo.

This disease has changed all our lives. I’m not sure that Ayrie remembers life before he was diagnosed. The rest of us do, but we have also settled into a new sense of normal. We cheer when we can hear Ayrie call loudly up the back stairs “C’mon Emmy, c’mon Ian, me, mommy and Shiya are going outside. Wanna come play?” We cheer up when we go nine weeks without surgery. We sleep more easily at night after Dr. Hartnick tells us that Ayrie will, indeed, regain volume in his voice. Not full strength, but much better than it’s been. Better than we had dared hope for. We are grateful that this is our new sense of normal. That the battles have lead to successes. We know we are lucky.

For Nora, everything has changed. Like many parents of kids with a chronic disease, she is not able to have a regular 9-5 job. It wasn’t long after Ayrie’s diagnosis that she had to leave her job in Chicago having exhausted her vacation days, and knowing that she would have to take off work at any time for the next surgery. Having to travel for surgeries every month or so and the constant and endless phone battles with the insurance company make standard work schedules impossible. She’s now in a PhD program at the university of Minnesota, studying the effect of rare diseases on families and how support networks can help. She has been writing a blog, Rare Disease Support. She constantly trying to figure out ways to turn this difficult situation into something that can help  someone else.

Nora and Ayrie coloring

I am lucky that, as a potter,  I do something that is completely flexible. I can jump in to help wherever I’m needed, and take care of Shiya when his mom’s away. And I’m so grateful that our nephews live just a flight of stairs away from us so we can be there to help provide stability in such uncertain times.  This has definitely helped me put things in perspective. It has also made me think that you never know what is going on in someone’s life, what they might be struggling with.

As I write this, I have to wipe away tears. It’s exhausting to always have to fight these battles, but the stakes are too high not to. We’re lucky that we have some hope. It’s not anybody’s fault that Ayrie has this disease. I don’t even blame the surgeons in Minneapolis for proposing a bad treatment, no one has found the “right” treatment yet, and I’m sure they were proposing what they thought was best.  I am not, however, so forgiving about the lack of openness and thoughtfulness I saw from them after the treatment was proposed. The lack of ability to consider that a second opinion would be worth 5 minutes of time on the phone. A few weeks after we left the hospital in Minneapolis, Nora received a certified letter from the surgical practice notifying her that they would not see Ayrie, even if he came into the ER. They followed through in their threat. This still baffles me.

I often think back to the prognosis that we received last September and what would have happened if we didn’t have anywhere else to turn. And if we didn’t find the courage to stand up and seek the treatment that was best for Ayrie. It’s beyond difficult to have every authority figure telling you one thing, and to believe that it is not the truth and to actually walk away from the situation. When you’re in the hospital, with a young child with all sorts of wires and tubes coming out of him, you’re in an incredibly vulnerable state. Every morning and every evening, when Ayrie takes his “magic medicine” and each week that passes without surgery, we thank Dr. Hartnick for what he has given us. Hope, life, and the sweet voice of a sweet little boy. We need to do whatever we can do to keep Ayrie in his care.

The health care system at times helps, and at times makes it very difficult.  MEEI personnel have been very helpful, and they’ve been providing quality, consistent care even as insurance jerks us (and them) around.  There was a state health insurance program in Illinois, and one here in Minnesota, that provide Ayrie with the coverage he needs.  But the administrators of these programs (particularly in Hennepin County) are terrible: disinterested, lacking in compassion, and simply incompetent.  But despite those problems there are always good people who really want to help, and though the system has been challenging to say the least, it has not failed us yet.  And we are extraordinarily grateful for the changes that happened this week in healthcare. Ayrie will never be turned down for insurance, he will never be dropped because of his condition (although it can still happen due to bureaucracy), and his rates will not go up because of it. This will be a positive effect for the rest of his life. He is currently on state health care that covers the ‘uninsurable’ — to think, that classification will simply disappear! That’s worth celebrating. Under the current regime the insurance company has limited the number of surgeries that he can have. Of course if he doesn’t have them when he needs them he will not be able to breathe, but that doesn’t seem to concern them. One of the reasons that we’re so happy that the length of time between surgeries is getting longer is because it means there is a chance we can fit into their parameters and maybe have one less battle to fight.  I just try to imagine what it could be like if we could focus all the energy that is spent fighting the insurance company and focus it on Ayrie’s well being. Every hospital visit is followed by a flood of letters rejecting this and rejecting that. Always vague, always requiring lengthy follow up with the bureaucracy of the insurance. Despite all of this I’m feeling hopeful we’ll get there. Closer to a point where we can put more energy into fighting for Ayrie, and less of it fighting against the system.

Ayrie and his little brother Shiya, hamming it up.

Please keep Ayrie in your thoughts. He’s an an incredible kid with a spunky sense of humor and a deep well of curiosity. He’s a typical four year old, who has gone through so much in his life that he has a wisdom beyond his years. People often remark that he has an “old soul.” If you’re interested in supporting his on going treatment, we have a travel fund to help him get to his surgeon in Boston. Because we never know when he’s going to need surgery next, we usually have to buy the plane tickets with short notice, which means high prices. There is no discount from the major airlines. And although we’ve tried to take advantage of different medical travel programs, they usually require 2 months notice, something that we cannot do. So we rely on private donations to Ayrie’s Medical Fund**. Five and ten dollar donations can add up quickly to a plane ticket to Boston. Thank you for taking the time to read this deeply personal story. It’s the story of a shared experience of all the people who love Ayrie. I’m glad to be able to share it with you on a  good day. A day to celebrate. It’s an important part of who I am, as a sister, aunt and artist and I appreciate the opportunity to share this part of my life with you.

Updated:
It is with the heaviest of hearts that write this update. Ayrie passed away on September 29, 2010 from complications to RRP. We are heartbroken but uplifted by the love and support of family, friends and strangers.