little girl with apert syndrome

What Doctors Fail to Tell You About Apert Syndrome

When Sarah was about 2 weeks old, we took her to see the geneticist for the first time. I was still in a postpartum stupor, barely able to comprehend the madness of diagnostic tests, blood draws, and specialists thrust upon us. The office door beheld the title of our region’s genetics specialist, including “genetic counseling.” Breathing a sigh of relief, I honestly believed we might receive a bit of compassionate care.

To my dismay, we were handed a copy from an old medical textbook that dryly listed every bodily system and how Apert syndrome affects each one. I could hardly breathe and hold back the tears as Sarah’s geneticist smiled and said without hesitation – and certainly with no empathy – “See you next time!”

As soon as I sat in the car, I burst into tears.

You see, Apert syndrome may include unique characteristics that are defined and treated by the medical community. Of course, my husband Ben and I saw the results of her genetic blood test, which confirmed the genetic mutation of her chromosome. But medical textbooks and jargon cannot begin to encompass all there is to this elusive disease.

The doctors couldn’t tell me that Apert syndrome would be both rewarding and challenging, that I would learn more about myself and life because of it than through any other means. Who could prepare me for the moments of exhaustion and elation? The fleeting days leading up to a major surgery and the anxious, sleepless nights post-op?

The world cannot predict a tidy existence, and so it is with Apert syndrome: There is nothing predictable, certain, or tidy about it. Despite this fact, Apert syndrome can be a tremendous gift. It’s all because my daughter is a gift, and her life matters in this world – as do all human lives.

Once I realized there would be no universal, cut-and-dry treatments for everyone with Apert syndrome, I panicked. My background in counseling reared its head as I desperately attempted to piece together the pathology and how to respond to it. But because Apert is so rare, the statistics do not exist about general care for each person.

Then it hit me: We are each unique to begin with. No one, regardless of diagnosis, can be stuffed into the proverbial box of stereotypes. Even the medical community, who (bless their hearts) were doing their jobs well by seeking out the pathology and treating it, lost sight of that.

So, shortly after I threw the medical textbook copied page into the trash, I adopted the slogan, “God is bigger than statistics.”

I knew we would have hurdles with Apert. I understood emerging problems might develop over time that didn’t appear at Sarah’s birth. But it no longer halted me with fear. Instead, I made a decision to simply live in the present moment and tackle whatever was to come at the time it arrived.

No longer a slave to fear, I realized I needed to listen to what the experts said about Apert, but I also needed to maintain a secure sense of interior peace – unwavering strength that would quiet my spirit when fear so often pushed its way into the forefront of my psyche.

little girl with apert syndrome

No one can predict with 100 percent certainty what will become of my daughter, or anyone else’s child for that matter. Some may pity us for the life we were handed, but I no longer wallow in it.

As Craniofacial Acceptance Month draws to a close, I ponder the facts and figures we were told at Sarah’s birth. In many ways, she has exceeded the medical community’s expectations. In many ways, she is thriving. But I do not rely on either hope or fear to get me through her lifelong rare disease. Instead, I enjoy what’s been given to us – here and now, today.


Alpha Phi Omega.

How Joining an Inclusive Fraternity Helped Me Gain Confidence With Apert Syndrome

I recently joined Alpha Phi Omega, a co-ed fraternity organized to provide community service, leadership development, and social opportunities for college students. It was not the easiest thing for me to do. It’s been widely recognized as one of the largest groups on my university campus, with over 100 members. It’s a lot to take in for a girl like me. I just became an official brother starting this semester, and I still feel like I have a lot to learn. One of the best things about it, however, is that they are all-inclusive. That has been the biggest lucky break for me.

My Apert syndrome has caused more than visibly different physical characteristics. As I’ve grown, my self-doubt and insecurity built up in me to a point when I could easily break and lose the ability to hope for anything good. When I got the flyer inviting me to come to an informational event for Alpha Phi Omega, I hesitated. I had been talking about it for a whole semester before with two of my closest friends who were involved in it, and thought it’d be good for me. They believed I could fit right in. But I was nervous, because even in a large fraternity like that, they’ve probably never seen a face like mine before.

I was always told that in college, no one really cares about differences like mine. People aren’t as judgmental as they were when they were younger. I believed that during my first year, but as I became associated with the fraternity, my insecurity started to act up, and it was as if I entered a whole new world. Everything felt alarming and different.

However, in the end, it all slowly started to be OK. Alpha Phi Omega is definitely as all-inclusive as proclaimed, and there is an absolute no-hazing policy. Not once has anyone in the fraternity stopped and stared at my face. Not once has anyone felt the need to question why they would allow “the girl with Apert syndrome” to start pledging and eventually cross as a brother. Everyone I’ve ever met in my school’s chapter has been so nice and so welcoming. Alpha Phi Omega has given me the strength I need and a reason to fight my insecurity.

To all my brothers in APO, no amount of thanks will ever be enough for me to express how much I cherish your readiness to see beyond my face. Alpha Phi Omega’s cardinal principles are Leadership, Friendship, and Service. It means a lot to be a leader. It means a lot to do service. But it means so much more to your Apert syndrome brother for you to go that extra mile, and be a friend to someone who is still trying to make it through pits of hopeless darkness.

Thank you for lighting my way.

Lisa Brown's son in the pool.

When People Stared at My Son With Apert Syndrome at the Pool

I recently had the privilege of taking my boys on a road trip, along with my mom, to visit with my sister and her family.  She lives a couple of states away from us, so our visits are few and far between. It is always refreshing for my mom and I to spend quality time with her, as well as my boys getting to have fun with their cousins, because let’s face it… they are growing up, and before we know it, they will be grown and off to college.

Going to new places is not always easy for my family. My oldest son, who is now 14 years old, was born with a very rare craniofacial condition called Apert syndrome, which affects the skull bones by prematurely fusing. This leaves no opening, or “soft spot” for the brain to grow. His fingers and toes were also fused together. He has had 13 surgeries to rebuild and remodel his skull and midface bones, as well as separate his fingers and toes. Five of these major surgeries occurred before he was even a year old.  Needless to say, things have been complex for him, as well as our family.

My son is very introverted, and self-conscious about being “noticed.” The older he gets, the more resistant he becomes about going places.  I get it… at the tender age of 14, teenagers start seeking independence, and dragging them out of bed before 10 a.m. in the summer is torturous for them. This is also the age of trying to fit in and feel like you belong.

This was when my “new” worry began a couple years ago, but luckily we had two positive events that helped. First, we attended our very first family retreat with the Children’s Craniofacial Association. They host this event once a year so that other families affected by a craniofacial syndrome can meet, socialize, and connect on a level that allows a sense of freedom and belonging. Even though we may live states (and even countries) apart, we are not alone!

Second, we were able to launch a district-wide Choose Kind campaign the year he began middle school, to help raise awareness for Apert syndrome and craniofacial differences. This definitely eased his mind, and ours too. He came from a campus of two classes per grade level, in which everyone knew him, but he was about to enter into a middle school flooded with all the students from the other schools that didn’t know who he was. A video was made, and other students and staff participated to spread the word to choose to be kind. They also encouraged everyone to read the book “Wonder” by R.J. Palacio. If you haven’t read this book, I highly recommend it. Read it for yourself, or to your children or grandchildren — I hear they will be making a movie soon!

The Choose Kind campaign helped ease my son’s mind. In his words, “Now everyone knows, and I don’t have to worry about it anymore.”

Now, let me preface this next part by saying that we as a family have always gone places and done things like most families do: shop, eat out, go to baseball games, arcades, movies, etc. So when we were staying at my sister’s house, we decided to take the kids to their community recreational center that had indoor water slides, a lazy river and such. My boys have been there before with their cousins when they were much younger, and thoroughly enjoyed it. But the minute we arrived and got out of the car, my oldest son started saying to me, “I don’t want to swim, why are you making me swim?”

I have to be honest; I immediately began to feel irritated. It’s quite a struggle competing with technology time these days with a teenager. But what I wanted to ask him was – why was he being difficult? It’s not like we’ve never been swimming in public, or at water parks. I was perplexed, because two weeks prior he had overcome some fears and made the decision to go to church camp for the first time, away from home. He was surrounded by people from our church whom he felt safe with and trusted, along with his little brother, he chose to take the leap.

I stayed outwardly calm, and explained to him that we were here to spend time with our family and for him to enjoy this time with his cousins because we don’t get to see them very often. Besides, he loves to swim and ride on water slides. We went inside, paid for the entrance fee and walked to the pool area. My mom, sister and I were looking for a spot to sit so we could visit while the kids had fun.

We found some chairs and were about to sit down when my son said something to me.  It was kind of loud; everything was echoing, and he is very soft-spoken.  So I asked him to repeat what he said, and these words rang loud and clear despite the fact that I could still barely hear him. “A group of people have already stared at me.”

We had been there less than ten minutes, and those words in my ear punched me right in the gut. I was beginning to pick up his message. He was uncomfortable because we were in another state where he worried that people weren’t familiar with kids that look like him. I guess I was naive to think that we could be past this, and that everyone in the world would be able to look past his physical differences and move on.  But we’re not.  He’s not.  

We are so used to going places and doing things locally. I truly forget that being in a completely new environment, surrounded by people who may not have ever seen anyone like him before, can sometimes trigger his anxiety and feelings of fear. I had to pause for a moment and collect my thoughts on what to say. But the truth is, I don’t always know the right thing to say.

I don’t want to dismiss his feelings by minimizing the situation, but I do want to find just the right way to build his confidence. So I try my best to validate his feelings, yet still give him some truth, encouragement, and hopefully a sense of empowerment. My words to him were: “I am sorry that people have stared at you; that must make you feel uncomfortable. Remember, sometimes people look, but don’t stare, simply because they are curious. They may be wondering what happened, since your fingers and toes look different. But if they continue and it becomes an unkind stare, you can always smile at them or say hi.”

I knew with him being such an introvert, that might be a little unrealistic, but it was the most forgiving thing I could come up with… until my passion rose. My empathetic heart felt sad and a little angry, knowing my son has to deal with this on a daily basis. So I ended it with: “This is a moment where you can make a choice – to be brave, and hold your chin up high knowing that you are loved and that God made you just the way you are. Do the things that make you happy and don’t let fear control you.  Or – miss out on the fun and joyous things in life because you are too afraid.”

I am so proud to say that he chose to be brave, just like he has for the last 14 years.  And when I saw the smile on his face as he floated past us going down the lazy river, my heart could rest again.

Even though this is something he will have to conquer time after time for the rest of his life, I hope that now the seed is planted. The seed that will help him to grow stronger in who he is, and want to bloom even if there are weeds around him.

But this lesson was not just for my son. It was also for me.

Fear will not be our dictator.

Follow this journey at One Real Hero.

Jeannie's daughter smiling in their yard

The Moment I Realized Apert Syndrome Was Here to Stay

The first two weeks after Sarah’s birth, I was swimming in a sea of denial. It was so deep, however, I denied my denial. Every morning I would wake up and wonder, “Maybe this has all been just a bad dream.”

I prayed she would be healed of Apert syndrome. I asked our lives would resume to a steady, predictable rhythm rather than the chaos and uncertainty that often accompanied it. For a time, it seemed maybe Sarah would just need a few surgeries, and then we could start a “normal” life — a typical life devoid of surgeries, pre- and post-op appointments, paperwork, phone calls, more paperwork, bills and therapy sessions.

Then one day, it hit me that Apert syndrome was here to stay. No, it wasn’t a flash of the proverbial lightning bolt that jolted me into this reality. Instead, it was like a quiet acceptance settled upon my heart, and at last, I was OK with the fact that Apert was going to be a lifelong companion.

Jeannie's daughter smiling in their yard
Jeannie’s daughter.

I was sitting in the waiting room while Sarah was in her weekly occupational therapy session. Lost in my thoughts, it occurred to me that I no longer viewed Apert syndrome as an unwelcome intruder. I didn’t immediately think, “Apert” when I saw my own daughter or others like her. Instead, I was beginning to see the person behind the diagnosis, the beloved face of my daughter. It was a revelation that swept me into an oasis of relief, and peace settled upon my soul.

Life with Apert syndrome isn’t so unnerving or daunting when one can allow it to be the constant presence of a friend. I won’t say Apert is the kind of friend I’d choose, but since it arrived in our lives and is here to stay, I’m learning to see it as more of a comrade than enemy.

Jeannie's daughter by the water
Jeannie’s daughter.

It’s really a matter of perspective, as is anything that is difficult or uncertain in life. We can choose to view challenges as obstacles, or we can learn to see them as opportunities. 

Sarah isn’t aware she is “different”; she only sees opportunities. Sarah doesn’t know she has Apert syndrome yet. Everything she’s experienced in her little life of three years has been typical to her. She doesn’t know what it feels like to have fingers that move with ease. She has no basis of comparison for her shorter arms or cute little fused toes.

Her body has become her haven, and I’ve learned to see it that way too.

I think we all have to remember that every human being is in some way, different. When I was a kid, I was called “four eyes” because of my coke-bottle glasses. I then earned the nickname “brace face” when I adorned those lovely metal braces on my teeth. I grew up hating the fact I was seen as an anomaly among my peers because of my introversion and “ugly duckling” appearance, but now that I have a daughter who is visibly different, I am proud of the little girl I once was — who was shy, awkward, afraid of herself.

Living with Apert syndrome as a friend, rather than foe, means I see myself differently. I am no longer ashamed of being different, because I know how beautiful each person’s gifts are to the world. One person may be prodigious at empathy, while another is perceptive mathematically. One may be a musical phenomenon, while another has a brilliant engineer’s mind.

Even mundane tasks, such as sweeping floors or organizing shelves, can be done with incredible joy, contentment and finesse. Apert syndrome has taught me there is no such thing as superior or inferior when it comes to people. There are no menial jobs or talents, because even small things can be done with great love.

That’s what living with Apert syndrome reminds me each day – that love is the essence of this life. Perhaps Apert has become more of a family member than a friend lately, because I’ve moved from accepting it to thanking it for what it has taught me and what lessons it has to offer the world, too.

Sarah smiling

Why We Need to Talk About the Questions We Fear Most With Apert Syndrome

Apert syndrome isn’t pretty to most people. The “ugliness,” of course, isn’t about physical appearances – not to me, anyway – but rather, it’s the “ugly” things people say or do, or maybe don’t say or don’t do. It’s ugly because it’s messy. There are no clear delineations of prognosis or even progress at times, and the myriad of surgeries and post-operative care can wreak havoc on anyone.

What’s toughest, though, is when people don’t acknowledge my daughter, Sarah.  My daughter is one of the most extroverted people around. She’s always walking up to total strangers, offering her signature grin and cheerfully greeting them with, “Hi!” Most people are at least polite and return the salutation, but many then start to walk away. Sarah doesn’t let people off the hook that easily, though. She’ll follow them (and I after her), asking questions like, “Whatcha doin’?” or “What’s that?”

When people scurry away and ignore her, that breaks my heart – no, it shatters my heart into a million fragments. She doesn’t understand their response, but I do, because I used to be one of them. I used to fear people who looked different, because I didn’t know who they were, what to talk about, how to look at them, or even what to say at all.

The truth for all of us is that we fear what we don’t understand. 

I think that’s why it’s so hard to talk about Apert syndrome with strangers or acquaintances, and on the rare occasion, even close family members or friends. It’s because the questions themselves seem to be enshrouded with fear.

What will happen to him/her?

How do you handle ‘XYZ’?

What if…?

We then trail into our own territory of terror, because we don’t know. We don’t have all the answers. There are aspects of Apert so nebulous, statistics don’t even exist to demonstrate patterns or predict outcomes.

So, we allow people to walk away without the impact of knowing just a little bit more than they did before they met our son or daughter.

It’s hard to talk about the fear of death, because it’s always a looming possibility.  Oh, I realize we all die, and there’s no way to know when or how any of us will leave Earth. But with Apert, it can happen any time. Most of us are fairly tight-knit in the Apert community, so we always hear when an Apert kiddo passes away. And it terrifies us to the core. We think, “That could be my child. It might be one day.”

But most of the time, we file those “ugly” thoughts to the back of our minds, because we’ve had just about enough of ugliness in our lives – the words and stares, the brutal surgeries that leave bruises and scars on our precious children, and the glaring message from society that our kids are different.

So the fear of how others might react if we actually verbalized to them, “I’m scared my child might die unexpectedly” is an unfortunate reality. We don’t pretend everything’s OK all the time necessarily, but we certainly aren’t always ready to be emotionally transparent to someone who may rip open our hearts again and again.

It’s because we live with a bleeding – or at least bruised – heart to begin with. It’s a jarring vulnerability, reminding us no matter how typical we may secretly (or openly) wish our life would be, Apert syndrome is the ever-present, prevailing mystery and unwelcome visitor.

So we live with the visitor, and it becomes our companion in an odd way. But it doesn’t negate our fears – or the fears of passersby. I think anything that’s hard to talk about is related to our innate longing for acceptance and happiness, which aren’t guaranteed when ongoing challenges are present.

Regardless of who we are or what we fear, we must start the conversations, however difficult they may be. We must answer the questions, regardless of how uncomfortable they are. And we must learn to be content with the questions themselves, not always grasping in desperation for answers that may never arrive.

Yes, Apert syndrome can be a mystery, but it can also be an adventure. My sweet Sarah is proof of this. I cannot imagine the world without Sarah, or people like her.  The world needs different, because — as we all know well in the Apert community – different isn’t ugly. It’s beauty in disguise.

little girl with apert syndrome

To the Parent Whose Child Was Just Diagnosed With Apert Syndrome

Maybe you’ve known about Apert syndrome for a while and have been slowly preparing yourself for your child’s arrival. Perhaps it was unknown to you prenatally, and you were completely taken aback when your child was born with the features of Apert: mitten hands, fused toes and a misshapen head. Either way, life has been forever changed now that your son or daughter has officially received the diagnosis, and you need that lighthouse as your beacon right now.

First of all, breathe. It really is going to be OK.

little girl with apert syndrome That’s not just a worn platitude I’m saying to calm your nerves. It’s the truth. Having a child with Apert syndrome isn’t easy, but the journey gets better because you change.  Your attitude changes. Your perception changes. Everything about Apert will shift from a burden to a blessing. And, at some point down the road, you will see your child rather than the diagnosis. That alone is cause for your joy, and when it happens, you won’t know it right away.

But when you look back on your journey, you will smile to yourself and tell another new Apert mom or dad, “Hey, someday it’s going to be OK.”

That being said, you need to know that you aren’t alone. The Apert family is ready and eager to welcome you into its fold.  Trust me, I know, because everyone I’ve been privileged to meet in this community has become my family at the heart level. In many ways, they will be more family to you than your blood relatives, not because your relatives don’t genuinely care about what you are going through, but because they can’t possibly understand what it’s like. But your Apert family does. They are moms and dads, kids and grandkids, adults and seniors. They are friends and mentors, counselors and nurses, healers and advocates. 

You will need them. Cling to your Apert family. Start as soon as your child is born, or shortly thereafter. Oh, I realize it seems to be the worst possible time to make these connections, but they will be your lifeline when, out of nowhere, you feel suffocated and confused, angry or overwhelmed.  Your Apert family is there to listen, share, offer prayers and advice (but only when solicited), and they will rally with you. They’ve been there. Grasp their strength when yours is depleted. Find in them the courage and encouragement you need to keep moving forward – for your sake and the sake of your child – because there will be days when you have none.

And on those days when life seems to be wasting away and you have no idea how you will make it through, do not give up hope.  It seems flimsy and clichéd to say such a thing, but believe me, I have been there.  I have been in the pits of darkness with this disease, because it is so mysterious, but hope is what I cling to when all else fades away into oblivion. Hope will be your reason, your breath, your focus. Keep it at the forefront, and you will be able and willing to confront whatever may come – good or bad.

And the bad will come.  Don’t dwell on it, but expect it.  Allow it to be in the back of your mind, because it’s a reality. But when the bad arrives, remember that “this, too, shall pass” and “all will be well, and all manner of things shall be well.” These are not meaningless words. They are truth, and they will guide you through the murky waters of caregiving. 

The bad days or weeks or months will remind you of the goodness that still exists, somewhere, in the midst of the struggle, and then you wait for the good to return to you.

The good times will not last, either, so don’t ride on the hope that “this time, things will be different,” because they won’t. Wait until another surgery hits, and you will find yourself near despair if you live according to the fallacy that goodness lasts, too.  The key to acquiring peace in the throes of Apert syndrome isn’t so much in riding the wave of good or bad days and months, but it is in living in the present moment and finding even small blessings in each day. 

little girls with apert syndrome

Your child is a blessing and a gift to the world.  Do not allow the world to tell you otherwise. There will be people who pity you, but don’t allow yourself to become a victim. There are enough victims in the world to fill it. What you must choose is victory, knowing it will not be achieved without struggle and pain. But your child is far from the burden others believe s/he is. Remember that. Relish in his/her laugh. Enjoy the moments you share together in unbridled joy. They may be few or many, but they are treasures and will contribute to expanding your heart far beyond imagination.

Finally, remember life is a journey. No one else can live it for you, nor can you live someone else’s. We are not meant to judge and be judged, but it still happens. Be OK with that. Be aware of who you are – warts and all – but without labeling yourself or anyone else, especially your child.  Labels destroy. Your journey and your child’s journey are meant to be lived to the fullest – tragedies and triumphs together. If you live well, you will learn to love well along the way. And that is what matters above all else.

Find out more about Apert syndrome support by visiting these online communities:
Apert Syndrome Awareness,  Apert International (Apert USA),

June is Apert Syndrome Awareness Month. Spread the word and get educated to #choosekind! 

The Mighty is asking the following: Write a letter to yourself on the day of the diagnosis. Check out our Submit a Story page for more about our submission guidelines.

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