Truths People With Rare Diseases Wish Others Understood

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People with rare diseases share what they wish others understood.

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My Message for the Next Person Who Googles ‘Vici Syndrome’

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My youngest brother, Timmy, was less than a year old when he was diagnosed with three degenerative conditions: agenesis of the corpus callosum, optic nerve hypoplasia and mitochondrial myopathy. Having a brother with special needs isn’t easy, but it’s something I learned to live with and something my family simply had to adapt to.

We had to work our schedules around Timmy’s appointments, tests and therapies. Our priorities changed. We had to learn how to stay strong. There are hard days and there are good days, but it’s always a challenge. And it’s a challenge my family faces together.

In early summer 2016, when Timmy was 7 years old, we were told that his condition was showing signs of being static. These signs were confirmed after further studies of Timmy’s test results. This was good news, since it meant that Timmy’s condition wasn’t progressing (getting worse) as fast as they’d predicted. I, of course, was happy to hear that I’d have more time with my brother.

In July 2016, we were given a new diagnosis for Timmy: a rare and severe disease called Vici syndrome. Vici syndrome replaced the former diagnosis of mitochondrial myopathy, and it also meant Timmy’s condition was more progressive than before. And just like that, the relief we’d had over his condition being static, the feeling that maybe life was going to slow down and give Timmy a bit of a break, had vanished.

Despite the fact that I knew Googling “Vici syndrome” was probably not the best idea, I did it anyway. 

Recessively inherited disease.

Extremely rare. 

Fifty documented cases worldwide.

Life expectancy: three to eight years.

It felt like I was underwater. I felt hopeless — more hopeless than I usually did when it came to Timmy’s condition. I felt restless, like I should be doing something other than go on with my life. I felt lonely because this wasn’t something that was easy to talk about, nor was it something I felt like explaining. I felt scared for what the future held for Timmy. And I felt angry — for lack of a better word — because the chances someone having Vici syndrome were so slim. This was my baby brother, and it just wasn’t fair.

In an effort to make myself feel a little better, a little more hopeful and a little less lonely, I turned to The Mighty. Reading stories of people who have had similar experiences comforted me when it came to Timmy’s other diagnoses as well as my own anxiety.

But there weren’t any stories about Vici syndrome. This only made me feel more alone.

Now, I’ve had some time to let it sink in. My family stuck together, we adapted, we discussed, we laughed and we pulled through, just like we always have and always will.

And as time goes on, there will be more people who will be diagnosed with Vici syndrome. There will be more parents that get the same phone call and are emailed the same research paper. There will be more siblings who will have to go through the same thing that I did.

And that’s why I’m writing this: So that the next person who Googles “Vici syndrome” gets at least one result telling them they’re not alone.

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To My Younger Self After My Daughter’s Rare Disease Diagnosis

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Dear Melissa,

Well, this isn’t what you were expecting. Your mind is racing, you feel numb and you’re in shock. It’s OK. It’s all OK. Because here’s the thing: You’re going to feel a lot of things over the next few years. New feelings and recurring old feelings. Guilt. Anger. Denial. In fact, you’re feeling a lot of these things right now. And it’s all OK. Feel them. Let them sit in your stomach, breathe them in and accept them because it’s going to be OK. And the more you feel these things now, the sooner you can process it all, and the sooner you can be OK.

Today you learned your daughter — your beautiful, thriving 3-week-old daughter — has a rare disease called familial chylomicronemia syndrome (FCS), which is also known as lipoprotein lipase deficiency.

Her triglycerides are 24,000, and they should be 150. In a few weeks, she’ll develop pancreatitis, a kidney infection and liver infection, and you will spend over a week in the hospital trying to figure it all out.

No one will have answers for you. This journey will be just the beginning. You will cry more tears than you can count and you will be sad. You will feel guilt for passing on this very rare recessive genetic disease, you feel guilt for not wanting this life, you will feel like you’re rejecting her through your guilt, which will create the greatest guilt. Today is just the beginning of a long, sad, angry and exhausting road. But there’s good news.

You’re going to feel all these feels. You’re going to call doctors you never thought you’d call, you’re going to push until you get answers and you’re going to take care of your little girl. You might think you can’t do this, but you can. And no one can do it better than you. You’re the one meant to love her, to manage her diet, to educate others and to provide for her the best life — the life she deserves.

Right now — recurring pancreatitis, abdominal pain, a 10 grams of fat a day diet — it seems like all too much to manage. Plus, you already have a 3-year-old boy, and in a few years, you’ll add on with another sweet little girl. But you’re going to take it day by day. And some days you’ll feel depressed and sad, but that’s OK. Be sad. Be depressed. Feel it. Because the next day, you’ll be ready to take over again and be the person you need to be. And before you know it, those sad, depressed, “can’t-get-out-of bed” days will be less and less until there aren’t anymore. Your daughter is going to grow and thrive and change the life of everyone she meets.

And you, Melissa, your heart will still break for her. No one will ever know how you worry and how you stress to make sure every holiday and every special celebration are as inclusive of her as it can be. The pain you feel, and the deep desire to trade places and take her gene — replace it with your good one. But you can’t do that so instead you’ll do what mothers do. You’ll make up recipes, you’ll educate others, you’ll teach her to advocate for herself and even at 4 years old, she’ll do just that because no one is better at being her mother than you.

Right now, you’re at the start of this journey. Day 1. It won’t ever end, but it will never be worse than it is today. Diagnosis day. So hang in there and cut yourself some slack. Ask for help when you need it and know that she’ll become a vibrant, happy and beautiful little girl, and you will make it through this.

For more information about FCS, please visit fcsfocus.com. To connect with others who have FCS, please visit the FCS Foundation websiteFacebook page or Twitter page

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Why I Don’t Feel Guilty About Taking a Bubble Bath in My Son’s Hospital Room

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My son was in the ICU, and I took a bubble bath in the bathroom of his hospital room. Yes, you read that right. Absurd? How could I? What was I thinking? Self-care is the only word I can use to explain the absolutely amazing time out I gave myself. 

He had been in the hospital for months — literally. My son was born with a rare illness. I guess you can call him a modern day “bubble boy” because experts at world-renowned hospitals have never seen anyone survive with his condition. Just knowing this didn’t deter my thoughts. I knew he was a strong baby. I also knew I needed to take care of myself, so I could be the best advocate I could be for him.

Honestly, though, I didn’t take bubble baths in the ICU bathroom in my son’s room often. I mean, really, how can anyone relax with all that beeping, blinking and ringing going off. But self-care was the one thing I could do to take my mind off of the absolute stress I was going through. 

Stress can be unimaginable. Emotions can be overwhelming. Simple little things that make you smile matter so much more when you have a different perspective on life.

Watching my son breathe felt so much more intense than it did when I first became a mom 10 years earlier with my daughter. When you’re going through something so traumatic like your son being unconscious in a pediatric ICU, it’s so important to give yourself a time out once in a while. 

I’d rely on nurses and volunteers to sit with my son, so I could get out of his room and take a break. I often found myself taking a walk through the hospital to the gift shop for a candy bar. I ate a lot of chocolate, drank a lot of coffee and subscribed to Hulu to watch TV shows I enjoyed at my convenience.

I’d polish my toenails on occasion, enjoy new hand lotions and do arts and crafts with my daughter (that’s a whole other story). I always played relaxing music in my son’s room. I made his room a relaxing environment to encourage healing. If I could have brought in candles to make it smell fancy, I would have! But you’re not allowed to light a match in a hospital or the entire floor would go into fire drill mode with doors closing and staff rushing to find out the cause.

We were there for a very long time. We’d move from floor to floor as his issues changed. We got to know so many nurses and doctors on so many floors that my walks through the hospital to the gift shop turned into what felt like a stroll through the neighborhood smiling and saying “hi” to various hospital staffers. 

Looking back, it was an unfathomable experience — one that I wouldn’t wish anyone to ever go through.  

Unfortunately, many families will have to go through a similar experience. Families with rare illnesses. Families like mine. But we’re lucky, blessed or whatever you want to call it because our son is thriving nearly six years later. You’d never know from looking at him that he has a primary immune deficiency of unknown etiology, has had bone marrow transplant twice, was granted a Make-A-Wish request or that he gets hospitalized for months when he catches a viral illness.

I’m grateful for him, and this may sound a little odd, but I do enjoy the small positive moments I experience because having a chronically ill child makes you look at life differently. I don’t feel guilty for treating myself to a bubble bath in the ICU. I feel lucky to be his mom and enjoy every day with him. I am his best advocate because I take time out for myself.

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When Someone With a Genetic Condition Hopes to Have a Family

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“Let’s start a family, I’m ready.”

Anyone who has ever dreamed of having children longs to hear those words. However, the same words can elicit a sense of uncertainty among those who have been diagnosed with a debilitating genetic condition. 80 percent of rare diseases are genetic in origin, and approximately 50 percent of those affected are children, according to Global Genes. What does one do when faced with the reality that having biological children may result in unimaginable hardship?

I was born with a rare and genetic blood disorder. I wasn’t diagnosed until adulthood, but I grew up with the fear that I may pass my condition on to my potential children. I recall arguing with myself and my partner about the implication that I would allow a child to endure the same challenges I did.

To put my mind at ease, I sought genetic counseling in order to find out the likelihood of passing on my condition. Fortunately for me, it was revealed there was a 25 percent chance my children would be carriers of my condition. Being a carrier would mean they would have the trait, but it wouldn’t manifest the condition as it has in me. This was an acceptable risk to me, and I let out a great sigh of relief and a lot of tears. But it doesn’t always go that way for others.

Kara also has a rare blood disorder, which she wasn’t aware of until she was pregnant with her first son, Brian. At 39 weeks pregnant, Brian stopped moving in the womb and had to be delivered by C-section. Brian had multiple birth complications, and at 3 and a half months old, he was diagnosed with congenital dyserythropoietic anemia type 1. This diagnosis led Kara and her husband to decide to no longer have any more biological children. Instead, they most recently decided adoption is the right choice to grow their family.

An unseen conflict can occur internally when someone with a genetic condition hopes to have a family. Even more so, those hopes can be quickly dashed when faced with having children and the journey may be full of challenges and hardships.

For Jenna, who has Ehlers-Danlos syndrome (EDS), being pregnant was difficult, debilitating and rendered her permanently disabled. Lizzy, who also has EDS, had children but carries no hope of ever having grandchildren. Her children have sternly decided not to have children, so they could avoid the difficulties they faced growing up.

It’s apparent that the lengths to which a person with a genetic condition will go to in order to have a family goes beyond the expectations of someone in picture-perfect health. Claire, who was diagnosed with congenital dyserythropoietic anemia type 2 as a child, underwent an arduous journey in order to create her family as well as safeguard her children from the same condition. She consulted with her obstetrician who suggested she begin a regiment of fertility injections. Three times a day for months in and months out, like clockwork, Claire would administer hormone injections to herself. After over a year’s time, she was able to become pregnant and later gave birth to two healthy twin boys, Wyatt and Leo.

Aside for internal conflict over the prospect of having children, those living with genetic disorders are sometimes scrutinized by medical professionals and even family members for wanting to have a family. People call into question a moral obligation to spare the future generation from such challenges. It’s not negligence to want to have children of your own. For many people, it’s a hallmark and highlight of accomplishment. The counterargument for such a claim is that having been born or diagnosed with a genetic condition better equips us to have children, especially if they have the same condition, for having lived with it.

It’s obvious that those who are living with a genetic condition have to be more methodical and critical when it comes to family planning. For some, the choice is easy. For others, it may be a daunting challenge that is worth all the time and effort in the end. There are those who will have to give up the hopes of having children of their own, but they’re at peace knowing they have the support of friends and family.

In the end, family isn’t always who you are related to by blood, but who relates to your heart.  

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Why I'm Glad My Son Rides the 'Short Bus'

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I left work early today so I could meet the bus. I wait on our front porch, watching other parents walk their kids home from the school around the corner.

“Hi, EH-DREEEEE-ANNNN!” A horn honks as a girl waves to her friend.

I hear some parental motivation: “C’mon!” “Let’s go!” “We’ll be late.”

Watching my son’s bus pull up on the other side of the street, I see his tiny head through the window and rush to the other side. The driver says hello then starts working on getting my son out. She opens the lift and positions him squarely in the middle of the ramp.

“Watch your toes!” she warns. I always forget that part.

He’s lowered down slowly, still sleepy from his nap. A 35-minute bus ride makes it easy for him to nod off. I check the street. Once, twice — OK, let’s cross. My son has been riding this bus for children with special needs, designed to safely transport kids who use wheelchairs, for about eight months. Back in the ’90s, we called this something else: the “short bus.”

Meeting him as he gets off the bus brings forth plenty of complicated feelings, especially with a crowd of parents marching their kids home. On one hand, I impulsively think of things I’m not supposed to think as a mother of a boy with special needs: If my son could walk, I would never rush him.

On the other hand, I am totally, 100 percent ravenously in love with this bus because I get to stand before the thing he conquered and destroyed only eight short months ago. We climbed our mountain, but that mountain manages to rear its head twice a day. And sometimes that mountain is even on time.

For about two years, I spent every waking moment with my son. He had a cardiac arrest at the age of 2 and a half caused by lung failure due to a cold. A combination of weak bones and a small ribcage prompted a few of his doctors to worry.

I was 39-weeks pregnant with my daughter when one particular doctor gave us news no parent should ever have to hear: “Your son is dying.” 

When I asked the dreaded question of “how long,” I immediately knew I should have sat in silence. She glanced at my 39-week pregnant stomach and pondered out loud whether or not he would even meet his little sister. The best-case scenario, according to her, would be that he would live until the age of 5.

I tried to capture and pause and remember every moment from that point forward. What is his absolute favorite TV show? Movie? T-shirt? Fork? Must remember everything. Must take a photo of every single time he laughs. Must not raise my voice. Must let everything slide.

I had my baby girl, we celebrated his third birthday and we tried to take him out as much as possible. The problem was he couldn’t fight off a respiratory virus like a regular kid. Each visit to the ER ended with an admission to the ICU and, quite often, a lengthy hospital stay. We decided to keep him away from other kids.

At that point, the thought of him going to school rarely crossed my mind. And if it did, I quickly swept that idea away, shushing it along with a lengthy list of barriers. He was using supplemental oxygen 24 hours a day. He had extreme anxiety when it came to strangers being near him, namely therapists, doctors and other children. He had nearly no preschool experience and couldn’t walk. Oh yeah, and then there was the whole life expectancy thing.

But then, very slowly, things started happening. After a month-long ICU stay in August 2014, we noticed his breathing had improved ever so slightly. My husband accidentally turned the oxygen off one night. Instead of rushing to turn it back on, we waited five minutes, our eyes transfixed by the numbers on his oximeter. They didn’t go down. No alarms went off. His color was fine. He seemed OK.

We experimented with turning the oxygen off for longer periods of time — six, seven, then eight minutes. I gathered enough courage to ask the doctor whether she thought he might be improving. She said it was possible but unlikely.

I pushed for more tests. After an overnight sleep study at the hospital, doctors were able to verify something we had known for weeks: Our son was improving.

And then all of a sudden, I could see it. I could see that future I hid so practically, the one I thought I had to erase. I could see his artwork on the walls, the report cards, the parent-teacher meetings. I imagined cupcakes on his birthday and Valentine’s Day parties. Instead of hearing a doctor’s dreaded words, stuck on repeat for months, I heard something else: “He might be well enough to go to school.”

A few months later, we were officially given the go-ahead to wean him off oxygen. Our goals for him needed to be realistic, but as a result, his time off oxygen moved at an annoyingly slow pace. Thirty minutes one week, followed by 60 minutes the next, and so on.

After graduating to nine hours free of oxygen per day, we started to think about next steps. I put his name in the running for a school that offered a special education, integrated therapy program. The integrated therapy was key. It meant we wouldn’t have to schedule a million appointments each week outside of school. It meant I could go back to work. It meant he would meet other kids like him. It meant that, in addition to learning his ABCs, he would be in a safe environment with professionals who truly understood his needs.

Now when the bus comes each day, I am reminded of how quickly things can change. Our paths aren’t linear, and they aren’t always predictable even when the experts are making those predictions. I was never supposed to be here watching my son in his tiny wheelchair being lowered down to the ground, sleepy from a full day of school.

When the back-to-school commercials make an appearance, when the chaos of packing lunches and the battle of enforcing an earlier bedtime begins, like most moms, I might feel a bit stressed. But I also might have an annoying, goofy grin on my face while standing in that chaos.

I’ll never forget that this chaos almost didn’t happen.

A version of this post originally appeared on Scary Mommy.

Follow this journey on Mother of Bones.

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