boy on the beach stares at the ocean

When I Accepted Our 'New Normal' While Caring for My Son With a Rare Disease

When my child was diagnosed with a rare and chronic medical condition, my life went through many changes — rapidly. I cried, I mourned and, at times, I felt despair. But eventually, I picked myself back up. I coped with the loss of the life I thought I would have, and I learned to accept my new normal.

“New normal” is a term that most parents of kids with rare and/or chronic health conditions hear often. 

Medicines four times a day? That’s our new normal. 

Testing every dirty diaper for blood? That’s part of our new normal.

Weekly doctors’ appointments, weight checks and therapies? New normal. 

Staying up until 1:00 in the morning and researching said rare diagnosis, only to go to bed at 1:15 a.m. and be woken up at 1:30 a.m. by your baby crying out in pain? Yep, new normal.

Constantly questioning every symptom and sign and flip-flopping between denial and acceptance? New normal on a daily basis.

But gradually, ever so slowly, “new normal” just becomes our “normal.”

I have been cruising at 0.5 miles per hour in the land of our normal for months now, slowly growing accustomed to the ins and outs of my son’s condition, begrudgingly realizing there’s no rushing his body’s process and learning we’re all truly passengers along for the ride of his rare condition.

And then it happened. His condition changed direction for the worse, requiring new daily treatments, creating new hourly worries, resurrecting previously buried worries and leaving us passengers headed in an unknown direction. Suddenly the familiar, comfortable proverbial rug was pulled out from under us, and we were left begging for our normal to return.

I cried.

I mourned.

I felt despair.

But now, I look at my beautiful son and realize the only thing to do is to keep moving forward. I am picking myself up, piece by piece, and realizing that while this new direction is unknown and scary, it, too, will eventually become my “new normal.” The new treatments, the new questions and the new symptoms all will become my new normal. And new normal will eventually just become normal.

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spiral of human genes

My Message as a Researcher to Anyone With a Rare or Undiagnosed Disease

I did not know much about rare diseases until I started my new job as a researcher a few weeks back. I thought rare diseases were, well, rare. That’s what I believed. However, the more and more I look into it, I realize I was wrong.

The statistics on rare disease are quite astonishing. While each rare disease is rare on its own, when you group them all together, this is not true. There are more than 350 million people who have 7,000 identified rare diseases worldwide. In United States alone, one out of 10 people have a rare disease. Rare disease impacts more people than cancer and AIDS combined. I can sit here and throw out number after number, but the thing is that rare disease is not rare. Yet because of the title “rare” disease, there is a misconception that rare diseases only affect a very small number of people.

As I meet more undiagnosed rare disease patients, I am so inspired by their courage and their grit. Yet so many undiagnosed patients feel like they are on their own. Their doctors just continue to suggest test after test without providing any definitive answers. When the patients can’t rely on the medical professionals, they turn to Google and online forums. The patients and their family become keyboard warriors, looking and searching for any clues that might given them some clarity about their undiagnosed conditions. I hear constantly from patients who feel like they are the only one in the world with their condition and don’t have anyone to connect with. They may feel isolated, lonely and secluded.

I just want to say: don’t give up hope. There are so many people out there supporting and rooting for you. We are all out here to root and provide you with whatever is necessary. I know scientists who are working in genomics, trying to understand, diagnose and treat rare diseases. I know patients who felt hopeless once; now they are diagnosed and successfully cured. Keep searching and keep pushing. Find and connect with other rare disease patients and researchers. There is much more information and help for you. As a researcher who is trying to help rare disease patients, one of the hardest parts is finding and connecting with patients. So let your voices be heard — there are people out there who want to help you. Lastly, don’t give up. Just because your doctor doesn’t have the answers does not mean that there isn’t anyone who can help you. Keep searching and keep fighting. The world is out there for you to explore!

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patient on stretcher in the emergency room

Why We Need to Close the Gap in Emergency Medicine for Rare Disease

As children, we are taught from a very young age to question everything. There is no such thing as a dumb question. We learn through asking questions. We are told we need to question authority. So why is it when it comes to the rare disease community, so many questions are left unanswered?

When you become a part of the rare disease community, you do not receive an invitation. You are not welcomed in with a cup of coffee and pinned at a new membership meeting, you’re thrust into a new realm without a roadmap. There may be others traveling in the same general direction you are, but your headlights are the only ones on the road. Suddenly there are no shortage of questions.

What does the diagnosis mean? What will the treatment look like? Who will be my doctor? My loved one’s doctor? What’s the prognosis? And the most frequent question – why?

There are over 7,000 known rare diseases and of those only five percent have FDA approved treatment. Over 30 million Americans live with one of those 7,000 rare diseases or one out of every ten Americans. Half of those 30 million are children and of those children with rare disease 30 percent won’t live to see their sixth birthday.

My daughter is one of those 15 million, and while we are grateful she has the best possible medical care and celebrated her seventh birthday this year, there are still questions about her health and future. Why?

In a time where Congress has pursued a two billion dollar funding increase for the National Institutes of Health and Rare Disease Awareness Day is recognized in 80 countries around the world, why aren’t rare disease patients properly treated in emergency situations? Why is there a gap in emergency medicine between the rare disease population – 30 million Americans – and everyone else?

My father was diagnosed with a rare disease called amyloidosis in 2013. His diagnosis came just weeks before he passed away. For two years prior, he was in and out of emergency rooms where highly trained medical staff, the best in Kansas City, could not treat him. Why? He didn’t have a diagnosis, and therefore he didn’t have a treatment protocol. But even if he had a treatment protocol, there was no guarantee that the highly trained medical staff would have had it on record and could have executed it. So we stand in the gap.

When my daughter was born in 2009, she spent a few days in the NICU for hypoglycemia and jaundice. We were released in five days and when she didn’t put on weight as expected. We increased her feedings and masked what was really going on with her.

Four months pass and we’re in the emergency room because of a single feeding I missed because I let her sleep. Suddenly ten different medical professionals are crammed into her cubicle in the emergency room, struggling to save her life while my husband and I stand there. In the gap. Five days later she is diagnosed with panhypoputuitarism and secondary adrenal insufficiency and we are the only headlights on the road. We are discharged with scant information on how to treat this rare diagnosis, which comes with pills three times a day, a daily injection, and two emergency injections.

When you are diagnosed with adrenal insufficiency, or AI, a little vial of SoluCortef is your lifeline. See, people who do not have adrenal insufficiencies naturally produce up to ten times the normal amount of a hormone called cortisol, which is vital to the maintenance of blood pressure and heart muscle tone, as well as sugar and salt balance, during times of physical stress. When illness or injury occurs in adrenal insufficient individuals, however, an immediate additional dose of glucocorticoids (hydrocortisone) is necessary to avert adrenal crisis. Delaying treatment means shock, heart failure, coma and/or death. We’re not talking about delaying treatment for a few hours, we’re talking 30 minutes or less.

For around eight dollars a syringe, you can buy this shelf-stable med and carry it with you. It’s literally life insurance for AI patients.  So we buy the meds. We get the medical bracelets. We put stickers in our car windows, magnets on our tailgates and labels on her seatbelt.

We hole up at home and read everything we can get our hands on regarding her treatment and prognosis. We talk to doctors. We explain her condition to family. And we’re feeling like we can handle this diagnosis. We can handle the daily shots and meds and treatment protocols. We have several emergency injections on hand and we’re ready for the worst. If she breaks her arm, give the shot. If she has uncontrollable vomiting, give the shot – the list goes on, but we’re confident – we’ve got this.

Now before you all get excited and think the happy ending is just around the bend, it’s not. Today the gap for treatment of rare disease patients in an emergency medical situation looks much different than for the “typical” population because even though we never leave the house without these kits, they are useless. They are useless because without proper treatment protocols, EMS will not administer them in an accident.

Imagine. Seven years of appointments, treatments and tests. Imagine growing up and not knowing any different. Imagine being seven and battling a rare disease while your parents drag you across the country to meet with doctors while looking for a diagnosis for a new condition that you’ve developed.

You’d probably want a break, right? Maybe it would be nice to jump in the car and head out with the family to grab an ice cream cone. But life happens. There’s a car accident. You break your arm, but mom and dad are out cold. Who will give you that shot? Who will prevent your medical crisis, prevent a coma, and save your life? Who will stand in the gap?

Typically, you might think the highly trained EMS staff will do it. You can hear their sirens in the distance, the Calvary has arrived.

But there are no protocols in place. The tool is there and everyone knows how to use it, but because there aren’t printed instructions, no one is allowed to use it.

And we’re not the only ones affected. There are 30 million Americans who play Russian roulette with their lives every time they leave their house. Drive their car. Cross their county line. Ride their bike.

If we are to question everything, in my opinion, it’s worth noting that the two billion dollars in NIH funding for rare disease research means nothing. It means nothing at all to me if we can’t develop emergency protocols that allow our highly qualified EMS providers nationwide to use the tools at their disposal to save lives. A piece of paper might be all that stands between rare disease patients’ lives and the research pool NIH has to draw from.

So what’s the solution?

We are pushing to create a National Emergency Treatment Database for Chronically Ill and Rare Disease Patients that would help emergency physicians access treatment protocols for the 30 million Americans who live with a rare disease.

EMS could have a quick access to show limited information such as Emergency Treatment Protocols and medications to be able to provide emergency treatment in the field. Patients would identify themselves as registry members via medical bracelets, QR code stickers on their vehicles and driver’s licenses, and local notification of EMS.

Currently, EMS protocols for rare disease patients are handled on a county-by-county, state-by-state basis. This means that there is no continuity of care when a patient travels outside of their home area. A patient can do everything right – carry their emergency meds, wear a medical id, inform their local EMS, even mark their vehicle – but that means nothing if EMS cannot treat due to a lack of protocol. This lack of information means delayed treatment and possible death. There is no reason an EMT should ever stand in the field with medications in hand and watch their patient die because they don’t have a piece of paper permitting them to treat the patient.

Going forward, we might not be able to close the gap between rare disease patients and the rest of the population when it comes to emergency treatments. But we can certainly fill it with the lives we save by establishing a national rare disease database.

I am currently lobbying Congress to establish such a database, but I need help to demonstrate how far-reaching the lack of protocols really is. Beginning August 1st, and for the next year, I have started wearing a different non-profit organization’s t-shirt every day to represent those affected by rare disease and/or chronic illness. Each day, we will use social media to share info about the disease, organizations that support that patient population, and the beautiful faces of people battling that condition, as well as their stories. At the end of the year, we’ll use those shirts to create a quilt that will be presented to the National Institutes of Health to commemorate our year of awareness.

How can you get involved? Easy. Join us. Check our calendar to see if your chronic or rare disease is currently represented on the #Wear4Rare calendar. If it’s not, book a slot. If it is, please email us at [email protected]. We want to tell your story! We would also love to add more non-profit organizations to our Database Coalition – please join us. Together we can shed light on this gap and we can close it with the lives we save.

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Lead photo source: Thinkstock Images

Downtown in a small town in Oklahoma with buildings of various ages and architectural styles.

Why It's Not Easy Living in a Small Town With My Rare Disorder

The shower head in our bathroom won’t stop dripping. It’s incessant “drip, drip, drip” keeps Joe and I awake at night. I catch myself nodding my head in time with the drips. It has essentially become the metronome of our existence at home. We’ve tried everything to fix it. We turn the shower on and back off again. Sometimes that slows the dripping- other times it gets worse instead. We’ve cleaned the shower head and the on/off lever. Sometimes we push really hard on the nozzle in hopes that
we’ll make the shower completely stop running water. It doesn’t work. Nothing

Now, some of you are saying, “Why don’t you change the shower head?” Well, that’s a fine idea, but it’s not exactly in mine and Joe’s skill set. You see, Joe and I have a variety of gifts and talents – none of which include plumbing. I mean, technically, Joe fixed our sump pump a couple months ago, but he used a couple dumbbells and duct tape to do so. I’m not sure that solitary experience makes him qualified to change out shower fixtures.

I once fixed the toilet chain in a college dorm toilet (seriously, Cumberland
College, why was I fixing my own toilet?) with a paper clip, but again, that’s
hardly professional experience. It has come to this – we need a real, licensed
plumber. That comes with its own set of difficulties. It takes days of sitting
around the house before a person actually shows up for non-emergency water
problems. Real, licensed plumbers are way more expensive than mine and Joe’s
pseudo-expertise. At this point, we have just accepted the shower drips, and that’s a strange quirk of our home.

Why do I think you care about my plumbing woes? Well, I don’t suppose you do. However, the drippy shower has become my constant analogy for living life with a rare disease. My body has several medical “quirks.” The quirks are the background noise for everyday. But, at this point, I don’t have the time, energy, or money to address the issues. Much like my dripping shower faucet, my aches and pains have become such a part of my existence, that while I’m not happy with the situation, I’ve accepted them as part of life. My pain is not adequately managed, and I don’t always deal with it well.

However, small town medicine is about as effective with managing a rare disease as Joe and I are at handling our plumbing situation. I have great doctors, really. I am sure they are great with managing many common illnesses. I feel like if I were a typical patient and went to any of my medical team with strep throat or high cholesterol or any number of other common problems they could handle it beautifully. Let me be clear – my frustration is not directed toward local practitioners. My frustration lies in the fact that awareness is lacking, physician education is lacking, and I’m the one struggling. Unfortunately, when you’re a “zebra” in the medical community, your problems are anything but common.

Even when my complaints are “common” there’s always a rare disease (and its complications) to take into account. The people that are equipped to help me (you know, the ones who have actually heard of my illness) are hours away. They’re in clinics with a two-year waiting list. But, I’ve never really had a medical issue that I’ve thought, “Wow. This should probably be addressed 24 months from now.” That’s not how illness works either. It’s complicated. It really is. For my friends with
complex medical issues, medical care is pretty much a gamble. We are begging to
be heard (drip, drip, drip), but we are blending in with the masses.

I get it. I don’t expect many doctors in small towns in America to be experts in any rare disease.

I’m not blaming doctors for this discrepancy.

I’m simply saying this life is difficult.

My medical issues aren’t easily addressed, and I am tired of being turned away. My illness is a constant dripping that keeps me up at night — praying that at no point does the drip turn into a gush — and knowing if it does, I’m poorly equipped to handle the

 Follow this journey on Crazy, Chronic Life

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little boy smiling with mouth open wearing glassees

The 3 Languages I Speak at the Hospital as the Mom of a Child With Special Needs

Nine years ago I started this journey with our third child, but not yet as a nurse — more importantly, as a mom of a child with special needs. Little Wade stayed in the NICU for the first three months of his life. Our lives had been thrown into this world of surgeries and doctors and hospitals and specialists. It was like I had stepped onto another planet with its own language and ways of doing things, completely different than anything I had ever known. So we did what any parent would do and we jumped right in.

Little Wade had a pretty rough start: more than 50 surgeries in the first five years with accompanying hospital stays. He would quit breathing without explanation and we wouldn’t know what to do, except bag him to keep him alive. We’d call the doctors, rush him to the hospital, try different medicines, position him differently, try different foods, anything they said to do, we did. It got so bad that he was life-flighted six times in three months; each time we were told the same thing: “His MRI looks fine.” I had started to guess that it was likely something to do with his head, but since he was non-verbal I could never know for certain. For years we went on like this. His oxygen saturations dropped into the 30s while we frantically bagged him back up. We went to the hospital only to be looked at in pity. I was the “poor special needs mom” who just doesn’t want to let go. And I couldn’t convey to them that yes, he does have special needs, but they only see him when he’s sick. They don’t see him when he’s happy and playing with his toys and grabbing his feet to put in his mouth.

Trying to find answers, we took Wade to Seattle, Cleveland, Dallas, and then back to Houston. We found a neurosurgeon at Texas Children’s who had trained in Chicago, which was our next destination. Reluctantly, we went to see him. It started out like all the other appointments: me explaining in my mom language what was going on. Wade would just quit breathing. He said, “His MRI is unremarkable. It’s what I would expect for someone with Pfeiffer syndrome.” And I said, yes, I understand that. But I’m telling you something is wrong. When he lays down, he’s fine, but when I sit him up he starts crying and pushing back to lay down, he starts hitting his head. I asked if we could do an ICP monitor to see if there’s pressure in his brain. By now, I had surmised through my research that his shunt wasn’t working right and perhaps it was over-draining since his ventricles were always flat on the MRIs. The doctor said sure, why not. So he went into the operating room the next day. When the doctor was walked in he came over to me and said, “If I know one thing, it’s that I don’t know everything and these kids always surprise me. So let’s just see what we find.”

Wade was sent to the PICU for observation while the ICP monitor was in place. A few hours later, the doctor came to check on Wade. He walked in and went to the ICP monitor display at the head of the bed, calculated some numbers and said, “Do you see that number?! That number is 90. His ICP is 90! Normal is 0 to 20, 20 when you’re laughing, but it goes right back down.” He hurried away and we were immediately scheduled for emergency surgery to replace Wade’s shunt.

Being in a hospital can be isolating. You’re in another world, with signs that are not in the language you know, with people who don’t understand you or what you’re going through. Sometimes, or rather, most of the time, you’re the last to know the plan, even though you are the one living it. Many times I sat in his hospital room feeling as if I, myself, were a void, questioning my own value, my own ability to care for and speak for my son because no one asked what I thought.

And then, one day I decided to go to nursing school. I intended to get some letters behind my name so someone would listen to me, so I could be part of my own son’s team, not really fully understanding that I am his team, and the medical team is just the periphery.

Over the years I have became aware that we all have the same goals, but speak three different languages:

First, there is “mad mom” — the version of me when I am crying and mad when trying to tell you there’s something wrong. I can’t tell you why, it’s just a feeling and I know that something is different.

Second, there is the “medical” language — this is the language I learned from other parents. It sounds something like, “I am concerned that Wade’s ICP is increased because we know that despite his MRI being unremarkable, he does have decreased CSF flow in the posterior portion of his brain due to the venous congestion relative to his Pfeiffer syndrome, and this is not the normal disease pathway for hydrocephalus.”

Third, there is the “data” language. This I began to understand as I am now in administration in the hospital. I am learning that I need to be able to “quantify my claims and stratify down as much as possible so we could put numbers to it and justify.”

What I’ve learned through all this is that as an advocate, it’s about taking an experience and translating it into something meaningful for all three areas that intersect patient care: the person(s) receiving care, the person giving care, and the person ensuring we get paid for it and are able to keep the lights on.

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Portrait of beautiful girl

What It's Like Living With the Short-Term Memory Loss of Functional Neurological Disorder

I was once a bright student who left school with top grades. A few years later and I struggle to remember something told five minutes ago .

Two and a half years ago I was struck by a rare neurological disorder called functional neurological disorder (FND), which affects the central nervous system and stops the brain from sending the correct signals to the body.

One of my many symptoms from this disorder is short-term memory loss. I can completely forget something said to me even minutes ago. I will sometimes argue with someone that they didn’t even tell me. For someone who once was academically bright it causes great amounts of frustration.

Imagine being able to go from memorizing a whole math course to not even being able to remember where your partner, who left two minutes ago, was going. There have been times when I’ve forgotten he went out at all and have searched the house for him.

Friends, family, and medical professionals even find it hard to comprehend how a young person at the age of 23 can have the memory of an elderly person. In fact, my grandparents have better memories than I do. Can you imagine that?

Not only is memory loss incredibly frustrating, but it also often puts me in danger. I often forget that food is in the oven, only realizing when the house is filling with smoke and the alarm is going off. This makes cooking something dangerous when it should be an easy skill for someone my age.

Due to my age people don’t understand just how bad it affects me, and I’ve had on several occasions people think I’m lying when I say I can’t remember, which only causes further upset.

It really is an isolating and frustrating symptom, one I wouldn’t wish on anyone. I only hope this story goes some way in helping people understand that age doesn’t stop an illness’ takeover.

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Stock photo by Zmaj88

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