My St. Patrick's Day Reflections, After Getting My Son's Genetic Testing Results

85
85

As the smell of corned beef and cabbage fills our house this St. Patrick’s Day, marking the traditional start to my all-time favorite holiday and celebration of the nationality I have always been so proud to call mine, this year’s aromas are masked with a pit that lies deep in my heart. After genetic testing of these very genes highlighted mutations in our littlest leprechaun, it revealed the possible source of the last four years of challenges, which has subsequently placed a bitter taste in my Guinness this year.

The irony of this news is that today marks the four-year anniversary of the day I dressed our then-18-month-old in his “Lucky Charm” shirt, walked into the doctor’s office and insisted something was very wrong, as he had taken 3-inch divots out of his crib with his teeth due to a vitamin deficiency we were about to unveil. Four years ago tonight, I put that little, pale baby to bed in his Irish pajamas, unaware that the blood test the very next day would change the course of the next four years and ultimately our family’s life, forever.

As  Joseph dressed himself today in his “Kiss me, I’m Irish” T-shirt, unaware of the significance it holds, I would like to know what happened to the baby who was once before me. Four years filled with blood tests, scans, infusions, biopsies, hospital stays, anesthesias, thick black iron, sleepless nights, and huge question marks that have overshadowed many of the moments I feel I never really enjoyed. In what has not felt like a blink of an eye, in this diagnostic odyssey, I wonder where has all the good time has gone?

Reflecting on the past, I wonder if I would have done anything differently if someone told me all these years later there would be a team of top doctors researching and corresponding with doctors all over the world with just a trail of tiny shamrocks leading to a needle in a haystack somewhere in Ireland. Small genetic clues indicated this is not an everyday disease and this is certainly not just in our heads.

While the past years have been filled with many regrets, I know I cannot go back and need to focus on the positive. I am proud of the parents we have been and our determination to push forward to help him despite the toll it has taken on all of us. I am proud of the documentation we were able to give to the National Institutes of Health which got him accepted into the Undiagnosed Disease Network. I am proud of our ability to push forward despite the few doctors who did not make it easy for us. Mostly today, regardless of some of the realities we have been given about our genetics, I am proud to be Irish.

If I could go back, I would tell myself not to miss those little moments, as regardless of where we are in the process and although the answers may not come, those moments will in fact pass, leaving us looking at a four-year-older little boy with the same challenges. Rare does not get diagnosed overnight. Rare challenges science and some of the best, most caring doctors. Rare raises questions that may not have any answers. Rare is real. Sometimes rare is on the inside. Especially on this day, it is important to remember, rare does not discriminate on nationality.

boy wearing kiss me im irish shirt

May the luck of the Irish be with us this year to once and for all discover how to help this vibrant, freckled-face, Irish, but struggling little boy. As everyone can be Irish today, may the luck of the Irish be with you all diagnosed, undiagnosed, rare and beyond. We all walk different roads, but with similar emotions, feelings and a common bond that can give of a better quality of life no matter what challenges we may face. While your situation may not change from year to year, don’t let those little moments pass you by, because those are the moments worth living for.

We want to hear your story. Become a Mighty contributor here.

MIGHTY PARTNER RESOURCES
85
85
JOIN THE CONVERSATION

No, My Illness Is Not 'Cool'

131
131

We’ve all had that conversation. When someone new is around when you’re putting on your supportive braces and they say the dreaded, “Oh no, what happened?” They just don’t know how loaded that question is. You consider for a moment being brutally honest, “I don’t know… it just happened.” But you don’t want to confuse them, so you go for something a little lighter, “Oh, I need to wear it because I have a medical condition.”

You don’t want to have to explain to them that you really don’t know why it hurts or why your hands or feet just don’t work sometimes. You don’t want to get into it, you just wanted to sit in class and learn. But here they are, intrigued by something unfamiliar, and so, another loaded question comes flying your way, “Oh, well what do you have?”

Again, you don’t know how to respond. How do you say it? Do you tell this stranger you have been fighting this battle for over a year with many supposed diagnoses that led to medications that never worked? Do you tell them that you have had nearly 20 doctor’s visits in the past eight months? How do you tell them about the way that your physical pain can often cause so much mental and emotional pain as well? How do you explain to them that as much as you are willing to talk about your illness, you don’t want to do it all the time, so that instead of seeing you, they see your illness? How do you tell them about the perpetual distress of a person living their life with undiagnosed pain? How do you do all of this in the minute and a half remaining before the professor dims the lights and begins their lecture?

The truth is, you can’t. There is no way to simplify your illness enough that they will understand in that first-ever interaction with them. There is no way to demonstrate the difficulty of many simple activities. And so, you just give the quick, hopefully topic ending statement of, “I have a joint disorder” or maybe if you’re brave, saying what is more true, “Uh, they don’t really know yet.”

But then the ball is back in their court. They can let it drop or they can let it continue, or they can do something even worse, they could respond with, “Oh, that’s so cool! I’ve never known someone who has something like that.”

You know they say this because they have no idea what daily struggles you face, so you smile and nod as the professor finally begins to dim the lights and the rest of the room begins to quiet. But inside, you are still hearing the words, “Oh, that’s so cool!” You’re still pondering those four words, thinking to yourself, “My condition is a mystery, that’s intriguing, I suppose. I do often describe my life as ‘interesting’ when I don’t know how to respond to people’s questions. But is it cool?” No. It is not cool. It is difficult. It is strange. It challenges me every day. It makes me stronger. It makes me humble. But does it make me cool?

No. I believe it does not make me “cool” because it should not be the only thing that makes me fascinating. It should not be the only thing that you know about me. It has made me who I am but it is not the only thing that defines me.

Next class, I’m going to put my braces on before I go.

We want to hear your story. Become a Mighty contributor here.

Thinkstock photo by amoklv

131
131
TOPICS
JOIN THE CONVERSATION

Choosing Faith When the Path of My Son's Health Is Uncertain

159
159

I have always been as positive as I could given the cards our family has been dealt with a child with an undiagnosed condition. I have tried to wake up each morning by taking a deep breath and be grateful for all the things our son doesn’t have. Each day, although not always easy, begins with the continued hope and ongoing faith that one day someone will give us an answer that will allow us to finally help our son.

My faith has always been ridiculously strong. Throughout this journey it was this faith that brought me some comfort in some very trying times as I have always believed everything in our lives happens for a reason. I believe there is a bigger plan for us and no matter how hard one tries, life’s timing is out of our control. I would pray, beg, and attempt at negotiating a deal or two, but it seemed day after day, year after year nothing worked. I believed he was listening because that is what my faith tells me, but what I could never seem to grasp is what is with the long delay? Are there still lessons to be learned? Maybe these lessons have nothing to do with me, but instead the doctors or other members of our family. While I wholeheartedly believe things are as they are meant to be, I am having a hard time accepting that these lessons and this four-year timeline with no end in sight would have to be at our son’s expense. There is a reason, there is a season, but perhaps this really will be a lifetime. Despite the overwhelming feelings that come with this harsh reality, my faith has never dwindled.

This morning I woke up and thought I truly wish I did not believe, as actually believing and trusting that this would happen to a child for a reason makes me angry. A type of body-numbing anger that makes it hard to keep going sometimes. That this has gone on for years for some life timing I am not aware of infuriates me. I came to the sobering realization this makes no sense, and burst into inconsolable tears. I would rather believe there was absolutely no big man upstairs than believe he would choose this journey to happen to our child, to a me as a mother, to my husband, my other children or any family for that matter.

Then I stubbled across this quote by David Willis, “Faith is a choice to trust God even when the path seems uncertain.”

I suppose if I am given the choice, I would rather believe and have some comfort while being angry than no comfort at all. Sometimes life does not make sense and sometimes the road uphill is difficult, but when I believe in a higher power, perhaps it will be enough to pull me though some of the darkest days.

We want to hear your story. Become a Mighty contributor here.

Thinkstock photo by Nadezhda1906

159
159
TOPICS
JOIN THE CONVERSATION
little boy asleep in the hospital

What It's Like to Be Told to Try to Give Your Undiagnosed Child a 'Normal Life'

759
759

“Take him home and try to give him as normal of a life as possible.”

What is normal? For one extremely amazing 4-year-old little boy named Cohen, “normal” means absolutely nothing can enter his body to nourish him. He survives solely on nutritional life support. It means being hospitalized for low grade fevers, extremely aggressive medications to combat infections, and using an IV pole every day. “Normal” means his time outdoors is limited, no swimming or rough little boy games. It means leaving the house with a heavy backpack which contains a large volume of infusing fluids. This is our reality.

little boy in hospital bed

This brave little boy’s entire life has been full of invasive procedures and hospitalizations. All attempts to feed and medicate him through his digestive system have failed, ending with violent vomiting and internal bleeding. His body can only tolerate ice chips, which must be vented back out of his stomach through a gastric tube. Due to lack of motility, even small amounts of water can cause hours of painful episodes. An extremely large colon and intestines are another source of his stomach aches, requiring continuous venting of air pressure from his belly to reduce discomfort.

Two years ago, Cohen’s growth and development reached a critical point and his doctor placed a central line (permanent IV) in his chest. It is through this line that Cohen receives TPN (total parental nutrition). His daily caloric intake is measured through blood draws which ensure all of his nutritional needs are being met. This medical nutrition is administered through 24-hour infusion, seven days a week. Without this life-sustaining medication, Cohen could not survive.

Cohen’s body is in a constant state of inflammation, and any illness can send his immune system into extreme overdrive, shutting down organs in its path. Cohen recently had emergency surgery to remove his severally inflamed gallbladder which was dangerously near perforating. In 2016, he went into acute liver failure from an infection that progressed quickly, wreaking havoc on his little body. Therefore, even low-grade fevers must be met with aggressive medications to prevent extreme inflammatory responses and sepsis. Since he becomes ill so quickly he must be transported by air. Cohen’s medical team is six hours from our home, and it would be to dangerous to drive that distance during an acute situation.

cohen and chevy the therapy dog
Chevy the therapy dog came to our room for a visit.

Severe food/medicine allergies and intestinal failure are just a facet of Cohen’s illness. His list of symptoms and diagnoses cross over into every system in his body. Genetic sequencing revealed two additional diseases, Familial Mediterranean Fever (FMF) and Factor V Deficiency (bleeding disorder). However, Cohen’s physicians do not believe these diseases are his main illness. He has also been diagnosed with dysautonomia, which is an umbrella term used to describe a lack of communication in the autonomic nervous system. For Cohen, this means he has fatigue and issues with temperature regulation, making it challenging for him to be outside. It means he screams in pain when touching snow or sweats profusely in warm temperatures. Other evasive health issues include antibodies in his platelets, pancytopenia (all blood systems low, making blood transfusions and iron infusions necessary), hands and feet turning blue, chronic pancreatitis, as well as malacia in his upper and lower airway and nodules on his throat and vocal cords.

“Normal” for Cohen and us means heartfelt conversations with amazing doctors which begin with, “I know you’re going to ask me some really tough questions I am not going to have the answers for, and I am going to feel awful about it.” It’s hearing the words, “Everything we try for him is experimental at this point.” “Normal” is not having a plan for lack of a diagnosis.

Our team of caregivers includes gastroenterology, hematology, pulmonology, immunology, ENT and rheumatology. Although, this is an amazing team of physicians, at one of the top children’s hospitals in the world, they don’t have a name for Cohen’s illness. His care is coordinated between all of these services and their resources, but they are limited by the boundaries of modern medicine.

Without a diagnosis, we have no prognosis and no plan of care. Our best hope is to keep him as well as possible. For now we simply pray that the extreme measures used to nourish him do not eventually destroy the same organs they are currently keeping alive.

Physicians have no more medical intervention to offer him. No more treatments. No better plan. We find ourselves with an unclear picture of Cohen’s future. Currently, our entire care team agrees Cohen’s illness has yet to be identified by science.

What does all of this mean for Cohen? We wait, hoping and praying the science of tomorrow will arrive today.

When Cohen’s disease finally gets a name we will have hope for a better treatment plan and the possibility of a cure. For now we simply pray our story connects with individuals who hold the possibility for answers. Until that day arrives our little boy will continue to be a member of the undiagnosed world and on a journey for a diagnosis.

“Take him home and try to give him as normal of a life as possible.” The truth is although we are frustrated and hurt, we know these words come from well-intended and equally frustrated physicians, not because they want to deliver this kind of news but because they have no more options at this point.

Follow this journey on Bullfrog and Butterflies.

759
759

RELATED VIDEOS

TOPICS
JOIN THE CONVERSATION

To the Students Who Said I Was 'So Slow' After the Fire Alarm Went Off

52
52

We have a system for this. My brother lives across the hall and all of the roommates in our two apartments know the drill. If that siren goes off, he comes to get me. That infernal fire alarm. But I can’t make him be by my side every moment of every day, nor would I want to. He has his life, I have mine, and they intertwine all the time, but especially moments of distress.

I am in my second year at my university and I still have not gotten a diagnosis for my mystery illness. Whatever it is, it is very limiting. No stairs, nine dietary restrictions, and pain. Constantly. I live on the fifth floor of our residence hall with my brother right across the hall, so when the stairs are required, he will help me. But he isn’t always there.

Twice in the past two weeks there have been fire alarms while my brother was not here. I was not alone, luckily, but there is no one else who can support my weight as he can. Here is the process.

The alarm goes off and scares me, then it starts aggravating the migraine that I already have after a full day of classes, I scramble for my ID, phone, shoes, and warm coat to insulate my body from more pain to be brought on from the cold. I then meet my brother’s girlfriend Sabrina (on the right in the photo above) outside of my door and we start the pain-filled journey down five flights of stairs to first floor exit. I put as much of my weight as possible on the hand rail, some in Sabrina’s hand, and the rest on my already screaming legs. Once I get to the bottom, I am relieved. But I still must walk through the lobby of my building.

I am often the last person out of the building because the whole process takes about six minutes. But I am out. I am proud of myself. Until, I walk through the lobby.

Each time I have passed through the lobby, last person out, the students sitting at the guard desk have commented.

One simply said, quite belittling, “You all need to hurry up.” It took one look at my position, one arm wrapped around Sabrina, and a face of distress for her to realize what she had said, and to whom she had just said it. But there was no apology. The next time, the two girls commented, “Man, they are so slow. Ya know, if ya’ll burn to a crisp because you didn’t want to leave your apartment, that’s on you.”

It makes me sad to hear these things, but perhaps not the way one may expect. They do not hurt my feelings, they alert me to their ignorance of illness. I know that had they heard my story, they would have never said those things. They perhaps would have offered help instead. If they heard my story afterward, they would never make comments like that again to someone else who is experiencing similar difficulties.

This is me, peering down from a giant slide in Cochabamba, Bolivia.
This is me, peering down from a giant slide in Cochabamba, Bolivia.

I have reached a place where people can make comments toward me and I will let them roll away, or they will inspire me even further to spread the word of invisible pain. But what about those other spoonies out there? Those people who are still trying to learn how to cope with their pain (though honestly, that part never really goes away), they may have been really upset at those comments. I am glad to be at the point where I forgive, but I will not forget it, because there could have been another spoonie struggling to get down those stairs, someone who still needs help to see that their illness while it challenges them, does not make them lesser than others.

We want to hear your story. Become a Mighty contributor here.

52
52
TOPICS
JOIN THE CONVERSATION

Learning to Be 'OK' With Where My Health Is Right Now

9
9

Growing up, I had the world at my feet. I made good grades, competed in a variety of extracurricular activities, and made good choices in order to get into college and someday have the idyllic American life. I was planning on graduating college, getting hired immediately afterwards, marrying, and having children who would run around the yard, while staying within the realm of our white picket fence. It was what I had planned and what most people in my life figured I was more than capable of having.

Unfortunately, life doesn’t always go as expected. I have finished college, even though most of the hours were accumulated online. I am married and have two beautiful boys, whom I love very much, but feel guilty for since I don’t always have the energy to do the plans they look forward to. My life has become scheduled around doctor visits and pharmacy runs as new prescriptions to manage my symptoms are filled and trialed, while I try to deal with the fact that my myriad of symptoms have yet to come to a completely stable diagnosis.

The problem is very few people know this part of what my life has become. I get the questions “When are you getting a job?” and “What are your plans now?” frequently. I usually brush them off and say “I am currently seeing what’s out there,” or “I am waiting for the right opening.” Honestly, though, even though I am searching, the right opening would have to be a career that wouldn’t mind me sliding to the floor suddenly to keep from passing out or coming in looking like red blowfish because I ate something I shouldn’t have. These positions clearly aren’t easy to find, so I usually end up feeling like I let the individual asking the question, myself, and everyone who believed in my bright and shiny future down.

So instead, I’m trying to learn to feel “OK” with where I am right now. I am learning to accept the variability in life and to enjoy the position my health has put me in at the moment. I get to have more time with my children, even if it is just getting to cuddle them on the couch. I also get the chance to change a few of my perspectives on life by learning some lessons the hard way. It has allowed me to see how important good health care is and how to truly empathize with another person. I have learned to appreciate what it means to “think positively,” even when you don’t necessarily want to and sometime end up not being very good at, but I’m trying.

I’m trying to be “OK” with where I am right now and that feels more than “OK” to me.

We want to hear your story. Become a Mighty contributor here.

Lead photo by Thinkstock Images

9
9
TOPICS
JOIN THE CONVERSATION

Real People. Real Stories.

7,000
CONTRIBUTORS
150 Million
READERS

We face disability, disease and mental illness together.