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To the Parents of a Child Who Just Received a Rare Diagnosis

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In July 2016, our son, Mack, was diagnosed with SATB2-associated syndrome. He was the 53rd diagnosed case in the world.

Mack was 3 when he was diagnosed. We were on the hunt for the “answer” for more than two years. Developmental specialists, neurologists, geneticists, dental exams, X-rays, MRI’s, sight tests, hearing tests, physical therapy, occupational therapy, speech therapy, blood tests, genetic tests and, ultimately, a full genetic screening narrowed our options and opened our eyes.

It was bittersweet. The transition from “search” to “answer” was surreal.

The goal has been reached. The answer has been found. But the answer changes everything we thought we knew.

There is no way for a parent to mentally prepare for this event.

We sat on the small, uncomfortable chairs in the doctor’s office. The sterile white walls closed in. We held each other’s hands firmly and braced for the news. I hugged Mack, choking back tears urged on by the unknown. The geneticist explained: “We’ve landed on a planet. But we don’t know much about this planet.”

Being present for the moment that changes the course of your lives is something you see in the movies, not playing out in front of your eyes. How do we process the words that echo in our heads?

A tornado of thoughts swirled. Time seemed to slow down and speed up all at once. We heard the words. Asked a few questions. Took a few notes. And stumbled out of the hospital bewildered. 

We knew Mack was different than his brother and sister. We wanted to know why. But without an answer, there was always hope that the miraculous could occur — the differences would fix themselves and all would be “normal.” 

Naïve? Perhaps, but hope fills the void left by the unknown. 

When the hope evaporates, loss is left to fill that void. It’s a loss that needs to be grieved. Your world just changed in a moment.

We aren’t experts on grieving or special needs. We are only a short distance into our journey on this road less traveled. But we are the experts on Mack. And you are the expert on your child. 

We may not share the same journey, but we are on very similar roads. The most meaningful advice and support we have received on this special needs path has come from fellow travelers. Our hope is there is a gem for you hidden in the words on this page. 

Take this moment to feel. To hug. To love. You will have plenty of time to chart your course. Take this moment to move beyond the loss. 

Once you can breathe again, recognize this isn’t just a moment. It’s a lifetime. The trajectory of your life has changed indefinitely. And you’re the only one that can guide the way. You’re making this up as you go. You are the expert. 

That’s a huge responsibility. Intimidatingly huge. But with great responsibility comes great reward. The road ahead isn’t easy, but it is amazing.

Expectations? Screw expectations. Disabilities don’t meet expectations.

Work hard. Love your family. Own your path; don’t let it own you. Realize the gifts.

Mack is not what we expected. He’s exactly what we need.

We are a happier, stronger, more compassionate family. Mack makes us better people every day … just by being him.

Be patient. Maintain perspective. Pay attention to now.

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Image via Genevieve Stewart Photography

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7 Things I Do to Prepare for My Child’s IEP Meeting

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I have been in countless individualized education program (IEP) meetings since my middle schooler first entered the school system as a tiny preschooler. While special education is intended to make school and learning accessible to all children, I quickly learned that the process itself is incredibly complex. So complex, in fact, that I used to joke that IEP stood for “in English, please” because the jargon and acronyms went ridiculously over my head.

Over the years, I’ve gradually learned how to navigate the land of IEP meetings for my child with special needs. Sure, I’d still rather go to my annual OB-GYN or dental appointment, but I’ve learned enough about my daughter’s rights to feel comfortable as her advocate. 

It doesn’t matter if your child’s IEP is three pages or 100, walking into a room of already seated educational professionals, all of whom have a stack of papers with your last name on them and become quiet when you enter, is a bit like having the lights suddenly go out.

It’s surprisingly unsettling, even as a grown-up. Perhaps it’s the endless acronyms (OMG) and procedural formalities. No matter how prepared I felt in the past, I was unsure of the best way to navigate through it when I seemed to be the only one in the dark. Then, a few years ago, a light switch flipped on in my head: I am the one person in the IEP meeting who knows my child the best, and my voice is her voice. That made all the difference to me when thinking of what an IEP means, since it’s far more empowering to think of an IEP as “I’m an Expert Parent.” 

While I have no business giving advice based on my professional background, as I’m not an attorney or a consultant, my hourly rate is simply me giving you my two cents worth as a mom who has decided that we are all experts. If you have a child with special needs, I hereby grant you permission to consider yourself a professional advocate with a masters in no nonsense. We don’t have time to figure out the meaning of each acronym, let alone what exactly schools providing free appropriate public education (FAPE) looks like for our children. But, as parents and participants in IEP meetings, we do need to understand the lay of the special education land.

My daughter has 22q11.2 deletion syndrome which means she qualifies for an IEP that should theoretically help her with everything under the sun. I would love to say our experience with special education has been seamless because when our daughter entered school, we already knew her challenges required additional support. But there is a universal truth to receiving individualized education for your child, no matter when their challenges are identified. You understand your child better than anyone, but when it comes down to knowing your rights and how to help your child succeed, the truth is that participating in an IEP meeting is overwhelming and like playing a game without having all the cards, or even the rules. 

The school isn’t offering a menu of a la carte items that your child may or may not benefit from. They give you, well, what you ask for. It’s a Catch-22 for someone who has never navigated the far off lands of special education.  

As my daughter’s annual IEP meeting approaches, the lessons I’ve learned about special education are foremost in my mind. Here is my two cents worth: 

1. Brainstorm a list of questions and concerns for the team prior to the IEP meeting and have a hard copy of the list for each team member. Walking into the meeting with something to hand out and a list of things to address at the beginning of the meeting is both empowering and helpful. The typed copy of my concerns makes me feel more in control and we stay on task. A win-win.

2. Ask the team at the beginning of the meeting how they think the services are going and what support or modifications they find most helpful for your child. I think all of the teachers and specialists benefit from hearing the answers, and I benefit from learning how the IEP essentially comes alive (or falls flat) during the school day.

3. Use a compliment sandwich if you have a specific sticking point. If I start with a small compliment, address my concern and end with a compliment (thus, the sandwich analogy), I am far more likely to make progress without someone taking offense. 

4. If you have a specific problem and it involves only one subject, it’s helpful to have a meeting with the teacher and special education coordinator prior to the IEP meeting. For my daughter, IEP meetings involve every possible specialty, from the school nurse to the speech therapist to the classroom teacher, and while I respect their time, I don’t want to feel rushed if there is an issue that warrants a longer discussion.

I realized I can request a meeting prior to the IEP meeting to discuss more in-depth concerns. Since there is no checklist of potential services for parents, don’t feel badly asking for time to brainstorm ideas or to extend the IEP meeting. 

5. If a question arises at the meeting about the best way to address a challenge for your child, I always ask the team, “What would you do if this was your child?” Ridiculously enlightening and helpful. 

6. If you don’t feel like you are making progress or being heard, reach out to the district’s special education coordinator (a.k.a. the director of student services). I guarantee their contact information is on your district’s website. 

In my experience, the director of student services has been an incredibly knowledgeable ombudsman who has a much easier time seeing the big picture because he or she can add additional resources or aides. Fun fact: The director is also responsible for being compliant. When in doubt (or distress), I copy our director on my emails, and the response I get back from any team member is guaranteed to be professional and expeditious.

7. Wear special socks. A dear friend who understood my IEP meeting angst gave me the best gift. Before I went to a meeting, she dropped off a pair of socks. The socks say, “You are not here to make friends.” I wear them every time I have a meeting (with long pants that cover the socks). I’m normally a people pleaser, but getting the proper resources and support my child needs isn’t a walk in the park. You may have to go with your gut and advocate for your child even if you’re the only one pushing for more. Don’t say “sorry” or worry about what the other meeting participants think. At the end of the day, you have plenty of friends. What you need from the meeting is progress. Believe it or not, sassy socks help.

To me, the true heart of special education law and an IEP is embodied in this quote: “Fair isn’t everybody getting the same thing. Fair is everybody getting what they need in order to be successful.” Now, the next time you’re bracing for an IEP meeting, take a deep breath and remember the true meaning of special education: infinite educational possibilities.

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Lead photo by Thinkstock Images

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What Parents Need to Know About Having a Child With a Rare Diagnosis

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Hope is only lost when we give up hoping.

It may seem right now like there can be no hope. Maybe that is all you hear from the medical professionals around you, but remember: your child’s future is still in the making. There is so much still unknown; there will forever be so much unknown.

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Charlotte’s son

Statistics are based only on what has happened previously – if we change our expectations, we change our actions and we could change children’s outcomes. Never be afraid to advocate, to promote, to share your story.

Having a diagnosis of a genetic condition no one else seems to have, a chromosome combination no one has seen or maybe not even that much of a “diagnosis” may seem lonely, but you will meet amazing parents, advocates and friends along the way. You may never meet them, but they will be there, on a group page, at a stupid o’clock of night just when you need them.

Your heart will soar when their babies succeed and break when they struggle. You will get strength and inspiration from their battles and achievements. There will be those who lose their battle along the way and your heart will break; the tears will be genuine. It doesn’t matter if others cannot understand that bond – it only matters that we are not on this journey alone.

There will be expectations for your child, which means some people will be expecting failure. Do not let them limit your child’s possibilities nor limit them yourself without first trying. Their future is unwritten and their potential is unknown, so help them to make the most, be their best and live their lives to the fullest.

author's son sitting in a stroller, wearing a red jacket and holding a green dinosaur stuffed animal
Charlotte’s son

Some days will be so hard you won’t know if you can carry on. You may feel broken by life, alone and defeated. You will survive, these times will pass, the wheel will turn and you will laugh again.

When people look at your amazing child with pity, be brave and strong. Look them in the eye, let them look your perfect child in the eye and change their opinions, challenge what society expects. Everyone deserves to know how awesome they are, and they will go away and spread that message of hope.

There is nothing “wrong” with our children. They just have bits that work differently, or bits missing, or extra bits! People will use this word – you have the right to correct them. You have a right to brag about your child.

We’re all different and that is why the world is so beautiful. Your child has made the world more beautiful simply by being in it.

They will teach those who meet them tolerance and patience; they will give you fear and heartache, sleepless nights and grey hairs; they will fill the world with laughter, joy and hope.

They are the children we were always meant to have.

My son is perfect. He is more than the number of chromosomes in his cells. He is more than a diagnosis. He is not a statistic. He is ours and nothing can take that away.

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The Children's Book I Wrote to Show Kids That Being 'Rare' Is Awesome

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As a nurse and a parent, over the years I’ve come across so many children who feel different for some reason, whether it’s due to autism, allergies, disabilities, rare conditions, chronic health conditions or whatever it is that makes them feel different, and they often feel like they are the only ones in the world who feel like they do. Even though I would say to each of these children “You aren’t the only one — so many others feel exactly like you do, and your differences can be a strength,” I felt like the message just wasn’t getting through. 

I’ve always had a passion for children’s literature and its power to shape and inspire, and had written stories for my own children over the years that I would tell to them at bedtime. So I started thinking about writing a children’s book that showed children that differences are actually very common.  That idea was in the back of my mind when one day, one of my children asked me what “rare” means. In trying to answer in a meaningful way, I started to explain how we all differ from one another and why.

It was then that I had a Eureka! moment. When children are young, we teach them that tigers are orange and grasshoppers are green — they learn to make sense of the world by putting things into boxes. I wondered: What if we could show children that tigers can be white, grasshoppers can be pink, and that those animals are awesome? What if we could show them that there are differences, beautiful differences, in every species, in every corner of the world, and importantly — in every single one of us?

It was then that I realized that I could show children that when you take a birds-eye view of the entire animal kingdom, it’s easy to see that differences are common — and something to celebrate!

That’s how “Rare Is Everywhere” came into being. It’s a book of rare animals like white tigers, blue lobsters, black jaguars and other amazing creatures that inspires children to embrace differences, and their own rare beauty.

artwork of black jaguar and spotted jaguar

The book also puts a positive spin on what makes the animals in the book “different.” That is, not only does it show that differences are common, it also highlights how some animals actually benefit from being different. For example, the white spirit bear is better at catching fish than its black bear cousins, while the all-black penguin mother stands out to her babies amongst a sea of white-chested penguins, and the black jaguar’s coat allows him to blend into the dark jungle where he roams.

artwork of two orange tigers and one white tiger laying in grass  

While I think this book will be especially meaningful to children with disabilities, autism, rare conditions, and health conditions of all kinds, I think it is also a great way to teach children about diversity in all of its forms. In the face of so much focus on the differences that divide us, perhaps there couldn’t be a better time for a book that inspires children — and all of us — to embrace differences in ourselves and others.

You can donate to the “Rare Is Everywhere” Kickstarter, and proceeds are being donated to a nonprofit called the Rare Disease Foundation to support their innovative research and treatment programs so that people with rare and undiagnosed diseases — many of them children – can live longer, healthier lives.

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

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

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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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