What Happens When There's No Specialists for Your Child's Disease

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When you have an undiagnosed child, fear of the unknown is your constant companion. You watch your child carefully, trying to tease out which of their little quirks are symptoms and which are not. Second guessing becomes a pastime.

Why is this happening to my child? 

Was it something I ate? 

Something he ate? 

Was it all the happy hours I went to after work before I knew I was pregnant?

The oral vaccine I chose over the injection?

Is my child going to die?

No one can prepare you for this existence. There is no short course on navigating an unidentified disease; no strategy for fighting an invisible foe. In a world where over-the-counter pregnancy tests and DNA paternity testing is the norm, a disease without a test is difficult for some people to comprehend. You therefore may be accused of not doing
enough to find out what is wrong. Doctors may lose interest after hundreds of tests turn up nothing.

It’s a lonely place to be.

You believe with all your heart that a diagnosis will bring closure and a possible treatment for your child’s illness. A diagnosis will open doors and give you access to the people and resources you need to provide the best possible outcome for your child.

And then one day the diagnosis comes and there is a sense of great relief: finally, you will be able to take your child to the specialists who can help. You can connect with the experts who know how to treat the disorder and tell you what the future holds for your child. The answers will be forthcoming and for the first time in years, there is hope.

But your child’s disease is rare, and before too long you realize there is no expert. No clinic, no research, no resources at all. The doctors you see rely on the same research journals you are reading, most of which contradict each other.

The only person who is going to research and understand your child’s disease is you. You will have to advocate even harder than before, educating doctors and pushing for treatments that don’t exist or are considered fringe. You will have to reach out and find other families with the disease and learn from them. The only difference between your world before diagnosis and the world after, is there is a name for the “evil beast.”

For 17 years I had a child with an undiagnosed disease — a disease so severe it was relentless in devouring my son. My formerly healthy child was disappearing in front of our eyes, and no one could tell us what was wrong or how to make it stop.

My son has an extremely rare genetic disease called riboflavin transporter deficiency type 2 (also referred to as Brown-Vialetto-Van Laere disease). There are fewer than 100 people worldwide identified with his condition. Because this disease was only identified in 2012, we have spent most of my son’s life looking for a diagnosis which didn’t exist. When we finally received a diagnosis in late 2014, we were handed a single research paper and told we could try the recommended therapy the researchers had proposed.

That was it. No doctor referral. No clinic. No research trials. Nothing. 

No one in the world was studying this disorder in any significant way, and any
doctor in the United States who had ever heard of the disease was going by the
same research paper we had been handed.

The same day we learned our son’s diagnosis, I got online and tracked down a small online forum that had been created by a few proactive parents. I started learning what treatments they were finding successful and what research they had come up with. And over the past 18 months that I have known the name of our son’s disease, I have not found a single physician who knows more about our son’s condition than I do.

Recently a friend asked where my son was being followed, now that we have a diagnosis. We live in a part of the country revered for its medical facilities, so the question seemed reasonable. Surely there must be several doctors following a case such as his. “No one is following him,” I managed, finding the words difficult to utter. It must have sounded like an admission of guilt because her face stiffened. “What I mean is, there is no one in the United States who knows much, if anything, about this disease. I have had to do my own research and learn everything about this disorder by myself. I am the one following him and developing a treatment plan. I’m the only one monitoring his progress. There is no one. Just me.”

The words stung as they left my lips, comprehending for the first time the weight of the situation. I was suddenly jealous of all the parents with children who had doctors they could call about their child’s disorder — the ones who had designated clinics and specialists at their disposal whenever they needed support. I envied those who could go to the library and find books about their child’s illness or get online and find people who had answers to the tough questions.

That same day my son’s report card arrived in the mail. He had received straight A’s for the year and had more or less aced all four years of high school. Yet it wasn’t always that way. There was a time when the school system didn’t want to accommodate his escalating disabilities. With no diagnosis and deteriorating health, who knew what he’d need tomorrow?

I recalled the years of battles with school administrators, making sure he was not denied the same opportunities as other children.

I thought about the doctors who closed doors in my face while I was still asking them questions about my sick little boy.

The years of, “I’m sorry, there is nothing more we can do for your son.” 

Yet there I sat, gazing at a perfect report card from the hardest working kid I’ve ever known. And all of a sudden, a revelation occurred: perhaps the lack of a specialist wasn’t a bad thing after all. In fact, maybe it was pretty wonderful. My son had exactly the right person for his disease following him: someone who had spent years advocating for him and pushing boundaries; someone motivated to learn everything there is to know about his disorder; someone intelligent enough to understand medical information and apply it to his situation, and whose full attention was on discovering the best possible way to treat his disease.

And most of all, he had someone who cared about him so much they would do anything to make sure he succeeded, not only in life but also in health. In the end, my son’s specialist had become me. From those first precious months counting down the days until he was born, to the moment I opened his stellar report card, it has been me. I am the one following him, and that’s OK. I can’t think of anyone better suited for the job.

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The Good Moments Are Everything When Caring for My 'Rare' Kids

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I keep thinking that my life, parenting kids with rare diseases, is not entirely unlike living in a house perched on a seaside cliff. There are still stunning vistas of endless seas that delight and inspire, but there is also the foreboding of the knowledge that one day, barring some kind of a miracle, your home could potentially slide off its foundation.

It’s hard to remember there was a time, not so very long ago, where I was married to the man I loved with two beautiful and seemingly healthy babies living in a whimsical Victorian flat in San Francisco.

That was the time before.

A time before pediatric clinical trials and chronic pain management protocols and the unwilling and unexpected entry into the world of parenting children with rare diseases. A time before our lives were dictated by an endless stream of pediatric medical appointments and ‘sick’ days. A time before I unwillingly entered into the sisterhood of “Moms of Kids with Rare Diseases.” A time before balancing caregiving and having a career — the career more necessary than ever after losing the girls’ dad, as I became the solo source of support. A time before life was dictated by the availability of pediatric specialists and endless moments in waiting rooms. A time before the the monotony of fighting to get insurance to cover the necessary treatments and for the implementation of IEPs. A time before waking every four hours to administer medication and to hope that no ED visit is in the offing.

And then there are the “good moments” – anchors of hope and the building blocks of gratitude.

In the time before, I did not have this nomenclature – of the “good moments” – now they are everything. So many “good moments” were had this weekend! My heart feels warm and full. We snuggled together in my bed, shared sushi, enjoyed the magic of walking on water via paddle boarding, sang songs, danced around the dining room table, picked peas from the garden and played with the dog.

As I write this, my youngest lays next to me from the pain that does not abate and I think how grateful I am that we shared so many “good moments” this weekend. I have discovered a new beauty and poignancy in the moments of now and an ability to be grateful that surprises me.

I find the “good moments” everywhere. Even in my moment of maternal anguish that another day of childhood is lost to pain, I am grateful for a career that lets me work next to her bedside. I am grateful we live in a place with electricity and running water and not in one of the tent cities occupied by Syrian refugees in Greece, or in a rural village where mothers of sick children must leave their bedsides and homes to find drinking water. There are mothers of sick children everywhere and we all live for the “good moments.”

And I recognize that I have become like those cliff dwellers — living with joy on the edge and gripping the moorings of each of the “good moments” with a tenacity that surprises even myself.

Follow this journey on Mermaids and Rebels

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Why I'm Fighting for Access to Off-Label Medicine

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My story with #CURESNow and OPEN ACT started as many do – with a rare, serious disease, and the timid words “there is no FDA approved treatment.”

I was uncompromising and filled with the indefatigable hope that only a wide-eyed 13-year-old could have. Unwilling to accept the fact that my future was dense with uncertainty, I did my research and found an off-label infusion therapy that maybe, just maybe, could help.

It did, and here I stand — an activist who has lived an incredible 17 years and has become a little too obsessed with making history.

This is exactly what the 21st Century Cures initiative will achieve. It will give this generation of youth the chance to see treatment developed in their lifetime. By incorporating patient perspective into drug development, identifying disease earlier, modernizing clinical trials, incentivizing rare disease drugs, accelerating the cycle of discovering, developing and delivering new cures and treatments, and providing an extra 1.75 billion dollars for the NIH and 110 million dollars for the FDA for five whole years, this may just be one of the most transformative bills to pass Congress in decades.

Youth are often grossly underestimated. It is beyond important to highlight the fact that ill young people are still intellectuals capable of playing a vital role in the passing of legislation that will directly impact their lives and the lives of many others.

It is time to turn these silent hurts into screams of survival and pleas for change.

We are not the vulnerable, sick youth the media so often portrays. We are change-makers. We are movers and shakers. We are the next generation of leaders. In a world that so frequently silences based on age or circumstance, we must be bold, brave and loud.

The conversation surrounding Cures has been gaining momentum and it is crucial we don’t allow it to peek here. With both Speaker Ryan and Senate HELP Chairman Alexander naming the 21st Century Cures initiative a top priority, we know that Washington is listening. Patient voices are important in securing a vote and gaining bipartisan support now more than ever. Cures truly impacts every American, regardless of age, gender, religion class, race, or creed.

Illness affects everyone, and therefor 21st Century Cures does too.

Want to get involved? There are a few ways you can help:

1. Contact your representatives. Ask your Senators to support the 21st Century Cures initiative, and your Congressman to co-sponsor OPEN ACT (HR 971/S 1421).   Bi-partisan support is crucial.

2. Tweet “I need #CuresNow because” with your own story. I’ll be retweeting.

3. Change your Facebook and Twitter profile pictures in support of #CURESNow by using this link.

Never doubt the power of a single voice…your voice. You never know who is listening and what change you can bring.

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How I Answer 'I Don't Know How You Do It' as the Parent of a Terminally Ill Child

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“I don’t know how you do it. I would just die.”

Someone said this to us, not long ago. At first, I was taken aback for a moment, mostly because I feel ill every time I hear the word “die.” Those three letters, put together, cut me way too deep. I hate them.

This lady had shocked me. Then, I was just really confused. When I moved past the shock, I actually digested what she had said:

“I don’t know how you do it.” 

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Stephanie with her husband and Blake.

I know the majority of people who are around (or even know of) Jeff, the girls and I don’t know what to say sometimes. By that, I mean words of comfort or encouragement. How could they know exactly what to say? Most haven’t been in a situation like ours and we’re on an emotional roller coaster. Some days, something could be nice to hear; the next day, the exact same thing could hurt. When words hurt, I usually try to remind myself that (almost always) they aren’t meant to. It’s very challenging, especially in the moment. Other times I get pissed off, shocked or I’ll just leave. I may do all three at once! Those times are rare, however.

I wondered if this was something people actually think. I mean, do you really wonder how we do it? How we care for Blake? How we make it through the day? How we survive?

For days I’ve tried to come up with an answer, not because I owe anyone who randomly blurts out crap or ask questions with only the motive of curiosity, but for myself. It seems so simple but I’ve come up with this:

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Stephanie and her family.

We survive on love — for Blake, Kenley and for each other.

That’s really all. This is our life, nonstop, just the four of us. We live on love and it’s much more powerful than I knew it could be.

“I would just die.”

Well, sometimes I feel like that would be easier, because the pain is so great, often too much. As a mother, though, I signed up for whatever was given to me, all the wonderful and the difficult. I never thought this very hard road would be part of our life but I owe all the love I’ve got to both my babies. I also remember I have really special people, no matter where they are, who love me back. The decisions, moments, fears, get really hard. More than hard: truly, the definition of excruciating. Love doesn’t solve these things, but love does support them.

She could’ve chosen her words differently, for sure. Hopefully she meant a nice thing even though what she said wasn’t great.

I guess what I want to say is, we appreciate anyone who says or does something from a place of love: thinking of us, praying for us, donating to Cure SMA or helping families like us, even reading along like you are now. The effort and the sentiment are what matters. Thank you so much.

Follow this journey on Still Finding Sunshine

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3 Ways to Get Involved and Support the 21st Century Cures Act

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“Congress is working together on a nonpartisan issue that will have a profound effect on the lives of all Americans. H.R. 6, the 21st Century Cures Act, will bring our health care innovation infrastructure into the 21st Century, delivering hope for patients and loved ones and providing necessary resources to researchers to continue their efforts to uncover the next generation of cures and treatments.”Mission Statement, House Committee of Energy Commerce, 21st Century Cures

Is it just me or do you get chills reading that paragraph?

Being an advocate has allowed me take control of an uncontrollable situation (my health). Now, one of the pieces of legislation I’m most passionate about and have fought the hardest for is facing its day in the Senate.

What do we want?

Cures!

When do we want them?

Right. Freaking. Now. 

We are in crunch time. 21st Century Cures has passed the House, and is now finally going to the Senate after being delayed quite a few times. August is our final time to push for this important piece of legislation. You might be asking things like, “Well, I’m not sick, so why does this affect me?” or, “I don’t have a rare disease, so why do I care?” I’m here to answer those questions.

Health legislation affects everyone. Yes, you might not be sick. Today. But health can change in the matter of seconds, and (God forbid) it ever happens to you, you’ll be hoping that 21st Century Cures in action will be there to produce potential treatments and cures.

Cures are for everyone, not just rare disease patients.

This affects cancer patients, this even affects Zika virus. But the OPEN Act (something I’m incredibly passionate about that gives bio pharmaceutical companies incentive to make off-label medication on-label for rare diseases that otherwise wouldn’t have treatments) is only for rare disease patients. So then comes the question again, “Why should I care?” Because, 1 in 10 people have a rare disease. By that statistic, everyone knows someone with a rare disease. So, get involved and care for your bother, your mom, your niece — whoever it may be. Without these vital pieces of legislation, they might be in the same situation as me — stuck living on borrowed time and who knows how long that lasts for?

MIGHTY PARTNER RESOURCES

Here are three ways to get involved:

1. Change your profile picture on Facebook and Twitter using this link to share your support for Cures Now.

2. Use the hashtags #CuresNow and #OPENAct on social media to spread the word and to get the attention of your local legislators. Don’t be afraid to tag them in posts about the upcoming legislation!

3. Use these hashtags and share why you need #CuresNow. For example: “I need #CuresNow and #OPENAct because paying for life-saving medications or college shouldn’t even be a choice.”

4. Write to your local legislators! As constituents, you hold great influence. Please take advantage of this and share your story. Follow this link.

5. Submit a Spotlight story! I’ll be publishing stories throughout the month of August and into early September in the Spotlight program specifically relating to the need for Cures Now. Share how you’re fighting for Cures Now, how off-label medication saved your life, and the impact the legislation would have if in place, and/or why you need Cures Now!

We have the power to impact great change. Right now we just have take the moment and turn it into a movement with lasting momentum.

Help us win the century, and just wait and see we do with it. I promise you won’t be disappointed. 

Xoxo,

Sick Chicks

Follow this journey on The Sick Chicks

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A Morning in the Mind of a Medically Fragile Child's Mama

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It is 6-ish, and a small moan comes through the “infant monitor” beside my bed. This is the monitor I pray will help me hear if my 6-year-old is having a seizure or struggling to breath. It is so much more than it ever was with my two older girls.

At the same moment, two conflicting thoughts crash through my mind: “thank you God she is awake” and “I wish I could sleep a bit longer.” I have not lazily woken up in years. On the rare occasion my baby girl has slept in, my body flies awake in a rush of adrenaline and fear… fear I have lost her in the night.

This is how my day begins. 

Bella sleeps in a Sleepsafe bed, a hospital bed that resembles a crib. She has a mobile (made by her sisters) over her bed. Bell has cortical visual impairment (CVI) and nystagmus, and we always encourage her to use her vision. This morning I wonder if she ever looks at that mobile when she is laying in her bed waiting for me.  

She is connected to a feeding tube that provides nutrition to her throughout the night — and keeps her from falling off the growth chart. Bell has little interest in food and often has trouble swallowing due to hypotonia. Some days I discover I have not connected her tube correctly and she has not received any of her formula. On other days, it’s leaked, and she is in a pool of formula. This devastates me with guilt and worry. Today all is well, and she gives me the “it took you long enough” look. I wonder how long she has been awake and waiting for her day to begin. 

I lift my 39-pound little love out of her bed while chatting to her about the joys of sleeping later and my need for coffee. Bell does not have the ability to wrap her arms and legs around me to help so it is like carrying a sleeping 6-year-old; you feel every pound. She watches me and sometimes smiles at my morning exasperation. She does not say a word. Bella has never said one word or even babbled really. Don’t misunderstand — she communicates effectively to those who know her, but not with words. Bella has Phelan McDermid syndrome, and being nonverbal is a common feature.

MIGHTY PARTNER RESOURCES

I lay her on the mattress we have on the floor of our living room. My decor is now a mix of therapy room and toddler fun house (sure, I have a swing in my living room, don’t you?). I change her diaper. Diapers for older children can’t typically be bought in the grocery store, so we purchase them (for a small fortune) through a medical supply company.

I chat about my night, generally complaining about the cat, as I put three to four different meds in her g-tube. She listens patiently but really just wants me to start her movie on the iPad. Bella has specific preferences and has mastered the animated head turn when she does not like something. She doesn’t scream or cry (unless she has extreme pain), she does grind her teeth… loudly. So I start the movie, the same one she watches every morning, the one our entire family has memorized.

Our day has officially begun.

little girl smiling in crib

As she lies beside me watching her movie, I drink my coffee and organize our day/week. I wonder if she can handle therapy this week. I research alternative medicines for things like seizures and C. diff (a nasty superbug that has repeatedly infected my little beauty). I think about medical bills (helicopter rides are ridiculously expensive!), research grants and resources (which we usually don’t receive due to my husband’s income, despite the fact we are drowning in medical bills). I wonder if it’s worth the time invested to fill out all of the paperwork. I feel guilty about her not having a bath in the last couple of days but decide my back is already screaming, so a wash-up it is. I check her heart rate, and stress at the numbers I see. People to call, appointments to make, paperwork to fill out, but I am stuck in the anger that fills me. Anger at the endless illnesses that have stopped her progress, anger at the doctors who don’t seem to know how to help, anger at the fact my child has had to endure a life filled with therapies and physicians. It feels like too difficult a way to start the day.

I lay my head gently on the sweet, fragile child I fight so hard for. She pats me with her soft hands, wrapping one hand in my hair, and the anger is gone. She smiles as I lift my head to look at her. I smile back, grateful to spend another morning with this silent, lovely soul. Tomorrow may bring a more difficult morning so I push back the anger and focus on the sweetness of this moment.

I am so very thankful our day together has begun.

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