Nicole's daughter

When I Hear These 3 Words as a Special Needs Parent

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Nicole's daughter
Josie.

Is it possible, for what kids with FoxG1 lack in terms of cognitive and physical ability, they make up for in cuteness and sweetness?

You might be reading this and thinking, how is there anything cute about a severe, rare, neurological condition that hinders the ability for children to do most things?

Well, let me tell you about my FoxG1 girl, Josie. She was born with this doozy of a genetic disorder. She is four-and-a-half-years old and cannot sit up unassisted. She can’t talk, nor can she take care of her most basic needs. Her brain just won’t tell the rest of her body what to do.

People often say to this, “I’m so sorry.”

And I admit, as a mother, I am sometimes sorry for her, too. She would love to do all the things four-year-old girls do. She’d love to run and play, and make Musical.ly videos (the app) with her brother. She sees what’s going on all around her. She wants in.

And sometimes, only sometimes, I’m sorry for us, too.

Of course there are times when her brother, father, and I all wish we could do things with her that she’s not able to do.

But, don’t be sorry for us.

Sorry, we’re not sorry.

For all that we don’t have, we have something else.

I always say “it’s just different.”

Josie and her brother.
Josie and her brother.

Josie wakes up with the biggest smile on her face. And she’s got that kind of smile that just grows and grows. You know when the sunset turns the sky all beautiful shades of pink and yellow and orange, and you think it can’t possibly get more beautiful… and then it does? That’s what Josie’s smile is like. And she smiles all day. And she laughs. It’s contagious. You simply cannot be unhappy around this little ray of light.

OK, well, she doesn’t smile while she is having a seizure or when she is tired. But most of the time, she is the happiest little girl in the world. And this is one common characteristic of most FoxG1 kids.

Watching the will this little girl has puts life into perspective. She doesn’t give up. She will try to move her little tushie forward to get to her toy all day long. Her will is tremendous, and it is my constant reminder that I should never give up either.

She’s also given us something beyond value; she gives us something to teach others. Life doesn’t always turn out the way we planned. Sometimes children aren’t born with all the abilities most others have. Some things are harder and some things are easier. When that ridiculously adorable face is smiling at me as she tries over and over to bring her hand to her toy, all I think is, this is just different and we are so lucky for our “different.”

We’re not sorry.

Follow this journey on Josie Devin

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To the Stranger on the Plane Whose Kindness Extended Beyond the Flight

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To the stranger on the Southwest airplane:

My 6-year-old was in the window seat, and I was in the middle. You were boarding a completely full (but almost brand new!) aircraft and asked if you could sit beside me – which, of course, who am I to deny such a request? You didn’t know my daughter had used a wheelchair in the airport, you didn’t know I was juggling two suitcases and three bags and pushing when her arms got tired, and you didn’t know this was her sixth trip to Michigan to see her neurosurgeon, and my eighth in total.  

We chatted throughout the duration of the flight. You weren’t annoyed by the conversation, and even complimented how well-behaved she was. She was coloring, and you asked who her favorite princess was. When her blue marker exploded, you went to the bathroom and got napkins. I think we even talked about LuLaRoe leggings – probably a term you had not heard until that flight. I didn’t get your name though; sometimes those stranger boundaries are a little awkward, especially as a mom traveling alone with her child.

krystle's daughter in the window seat of the plane

When we went to de-board, you were surprised I wasn’t rushing off. I told you I had to wait for them to get her wheelchair, so we were just going to hang out for a few minutes. We finally got off, got her chair and were rounding security to head to baggage claim when you caught up with us. This was probably 15 minutes later at least. You found us! (And no, not in a creepy way.) I’m sure the kid in the chair with crazy colored leggings was easy to spot, but still – we were in a different section of the airport.  

You said you wanted to help us get our baggage and get to the rental car shuttle, and I’m not going to lie – I wanted to jump up and down. I had somehow packed our large suitcase to weigh a whopping 45 pounds. I have no idea how that happened or that clothes could weigh that much. So I was already wondering how I was going to pull it off the conveyor belt.  

In a world where people typically only look out for themselves, it was a breath of fresh air for someone to genuinely want to help us get from point A to point B. You took the time to be helpful and kind, and I want to say thank you.

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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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