The Fifth Candle

My daughter turned five a week and a half ago.

Five.

There are still times when I find myself looking through racks at clothing stores and picking out clothes for her in a size 2T. And then it hits me. She is growing up. She hasn't worn a 2T in two years. And now she is five. A weight lands on my chest and my eyes start to burn. Five. How did this happen?

Shortly after we brought Isabella home from a lengthy and serious hospital stay when she was 2 and a half, I went to check on her in her bed a few hours after she fell asleep. It was late, and very dark, and emotionally, I was not doing well. I sat down on the floor next to her bed and held her hand while I watched her chest rise and fall. I pretended to brush a curl off of her head while I really checked (for the hundredth time) for a fever.

Fear and exhaustion were eating me alive, and I realized that the biggest fear that I had was that she could leave us at any time, and I would be left here, without her to worry about. That thought sent me into a tailspin, and I started to cry. Nik came in and knelt down behind me, hugging my back as he wordlessly stared at our sleeping baby.

"I am so afraid that she isn't meant to be here for long." I whispered.

And all he said was "I know."

We both cried, unmoving on her floor for a long time, because we knew that a lifetime of worry would be worth every extra second, every smile, every breath that she could give us. Yet there we were, guaranteed nothing but the moment we were in, which was horrifying and beautiful, endless and fleeting.

Now she is five. Not a baby, less a toddler, more a "kid". She is miraculous: exceeding expectations, living fully, and unbelievably happy. I wish I could go back and count the wishes I've made since she was born, because the number of those that have come true is a miracle, too.

I have not journeyed far enough away from those dark days to not be grateful for every moment that I get to worry about her. It is a gift that attaches itself to me heavily, slowing me down and making every moment alive with emotion, while simultaneously setting me free to see every second as a wish come true, something to celebrate, the miracle that it is.

Every year on her birthdays past I have blown out her candles for her, making two wishes as I close my eyes. One wish: to be blessed with another day to worry about her, and the other: that someday soon she herself would blow out her candle with a wish of her own.

Make a wish, sweet girl

On her fifth birthday we celebrated her beautiful birth, her beautiful life, and her beautiful future. We sang, with her round face lit up by the single flame of her number 5 candle. When we were done, we told her to make a wish. She looked down, lowered her eyelids, and smiled slightly. After one practice puff, she inhaled again, determined. And then, as if she had been doing it on her own forever, she extinguished the flame of her fifth year on earth and looked up with eyes wide with pride and a shy smile. She looked right at me for the briefest of moments, and I knew that this girl of mine is ready to be five, even if I am not.

I will forever hold on to her fifth birthday candle, the first that she blew out on her own. The one that will always remind me of the day she made a wish for herself, and granted a wish for me.

Happy Birthday, sweet Bells. Always remember to wish hard....

....and to celebrate harder.

The Gifting Tree

We have a tree on our tree lawn right in front of our house that I love. It is the perfect size, and the branches are full with beautiful leaves that give the tree the perfect shape. It helps to block the hot rays of the morning sun in the summer, and in the winter the frozen branches perfectly support the freshly fallen snow to make the most beautiful scene out of the frame of our window.

Every October all of the trees on our street are well into their fall transformation. The leaves on our neighbor's trees burn brightly with the autumnal colors of the season before their edges start to curl and darken and they flutter to the ground. By Halloween, most of the trees are half bare and have lost the charm of a freshly changing season.

But our tree is different. While our street is lined with oranges and reds, our sweet tree still holds it's green leaves, even weeks after the other's have changed. Standing straight among all of the colorful trees, our tree looks young and odd but strong and independent.

The tree starts to change eventually. It always starts with a few yellow leaves sprinkled in amongst the green, and then the yellow turns to a light orange. Before long, the tree looks like it is at it's peak of color change, and the leaves almost start to look dull and brown at the edges. Every year I look at that tree and for a split second I think about how I am slightly disappointed that the fall colors it displays aren't as intense as the trees around it were weeks ago, and that it only looks yellow for a few days before it looks like it will drop all of it's leaves at once and be done with it's yearly chance to shine.

And then, as quickly as that thought came, it is gone. Because this tree of ours isn't done yet.

Isabella wakes up on her birthday every year to a bright pink, unbelievably gorgeous tree. It is the most intense color I've ever seen in nature, and the color change seems to happen over night. It never fails to gift her of this every year, and every year it takes my breath away.

It reminds me that all things have their own timeline in life, and though some things don't follow the typical path, they too are beautiful and worthy of our patience and our unbridled appreciation. I love that tree even more because it is different and unique; it makes us wait longer for it's gift, but I treasure that gift all the more because of it.

And anyway, when is a better time to give this gift than a sweet girl's birthday?

(These were taken 4 days after her birthday, so it is less full and pink than it typically is.)

A post on the newly turned 5 year old is coming soon. Promise :)

Special Needs Spotlight

Do you guys know my blog friend, Miggy? If not, let me introduce you.

Miggy is a creative and funny mom of two who writes one of my favorite blogs out there, This Little Miggy Stayed Home. She has two gorgeous girls who have the two most gorgeous dimples in their chins I have ever seen. She is lucky I don't live closer to her, because I would for sure come over all the time just to randomly kiss those sweet little dimples. And as we have never actually met in real life, that might get a little awkward.

Anywho, Miggy's youngest daughter was born with a condition called microgastria and limb reduction complex. But as Miggy so truthfully put, "coincidentally, she was also born with extra awesomeness".

Migs decided to dedicate Fridays on her blog to spotlight other families who have a story to tell about having a child living with special needs, and this week I am guest blogging over at Miggy's.

Please stop by and read my spotlight. But don't stop there, you are sure to fall in love with Miggy's family just as I did.

Click here to read my spotlight!
Click here to read more about Miggy and her family!

Thanks to Miggy for inviting me to be a part of this!

Fear

I had a doctor's appointment today, and so for one of the first times since I got Isabella's confirmation of Kabuki Syndrome, I was alone for a few hours with my thoughts.

I have a lot to update on, and I have been planning on writing a blog post all week about what is going on with Isabella lately, and how wonderfully she is doing with all of her therapies and how excited she is to start school. I also have a whole post worth of updates on how her follow up with the geneticist went last week, and how emotionally wrecked I have been lately.

But today has been rough. And so, those posts will have to wait for another day (week?!) because today I already have two separate issues that are killing me inside.

While I was driving to my appointment today I thought I would be emotional, and I even allowed myself to have extra time before my appointment in case my thoughts from the past few weeks made weepy. But as I was driving, all I could think about was how beautiful it was out, and how lucky I felt to have my kids, and how much I couldn't wait to get home to them so we could have a fun afternoon while daddy was home for the day.

I got to the doctor's office and told the woman at the desk my name to check in. She looked at me funny for a minute and said "you are my neighbor." She didn't look familiar to me, so she explained which house she lived in (a street over from us) and how she was the one who ran and got a band aid for us one time when we were taking a walk and Isabella fell and skinned her knee. I remembered her then, and I remembered how after she got her the band aid and a wet cloth to clean up her scrape I walked away thinking about how wonderful it was that we live in a community where neighbors truly help one another.

The woman and I started chatting for a minute once I realized who she was. She asked about Isabella, and how old she is. When I told her she was nearly 5, she asked if we were going to be putting her in preschool this year. I told her yes, that actually this will be her third year of preschool already. She said she also has a daughter who will be five the month after Isabella.

When I asked her if she too would be starting preschool soon, she huffed and gave me a pouty face.

"Yeah, I guess," she told me.

"You aren't excited about her starting? I bet she will love it!" I responded.

"No, I want her to start" she said, "but she will be in the Tri-County preschool program. You know. The one where all the kids have those IPA's or whatever."

I knew what she meant. But I acted like I didn't. "IPAs?" I asked

"Yeah, you know. The special ed kids?"

"IEPs?" I offered.

"Yeah, that's what it is. IEP. I'm just not really excited that she will be in that preschool."

IEP: Individualized Education Program. An individualized plan to provide for the educational needs of children with disabilities.

She doesn't want her kid to be in the same classroom as "those kids".

I can't believe I remained as calm as I did looking back. I could feel the blood rushing around in my ears and I just wanted to go sit down in the waiting area, but I knew I would regret not saying something to her about it later.

"What are you worried about with her being in a classroom with children who have an IEP?"

"Oh, I don't know. I don't want to seem like she's above them or something. I just don't want her to be bored," she replied.

I told her that I highly doubted that her daughter would be bored in any preschool classroom, as it is preschool after all. I told her that my daughter is also in a classroom that is integrated with kids who both have and do not have an IEP, and as a parent who goes to every field trip and every school event, that I couldn't believe the progress that I observed every kid in the classroom had made since Isabella started school, weeks before her third birthday.

I told her that the IEPs are INDIVIDUALIZED for the student who needs them, so that the entire classroom would not be affected by the special needs of one child. I told her how lucky her daughter is to be able to be in this particular classroom setting, as she will learn empathy and compassion for others, and will likely not even think the differences between herself and her classmates amount to much of a difference at all. I told her how wonderful it will be for her to get to know and feel comfortable around kids who have special needs now when she is so young so that she can learn not to fear or avoid them later.

The woman smiled and said "oh, thanks for the information." But I don't think I reached her at all.

So I sat down in the waiting room and have since spent the entire rest of the day dwelling on the fact that I was blindsided by this. I was sure that I had thought of every possible scenario where Isabella might be discriminated against in her future, and somehow I didn't even think that it would be the PARENTS of the children her age that wouldn't want the likes of her to be included in the classroom. I know that kids might make fun of her and teachers might get frustrated with her and that she might feel different just because she needs an aid or therapists throughout her schooling, but I failed to realize that we might have an entirely separate fight on our hands when it comes to having her mainstreamed into a regular classroom at all. I know that other parents cannot prevent her from being in a particular classroom, but if they have a strong enough opinion about it, they will certainly influence their children's view on accepting, including, embracing and helping my child, and many other children who might be different from them. And this makes me incredibly sad. I keep trying to remind myself that we are in the times of forward progress, and to thank heavens that we aren't living 50 years ago because doctors would want to institutionalize many kids who have special needs, but when things like this happen it makes me think that maybe we aren't really moving forward so much after all. I mean, people would say that they are for equality and justice for all, but when it comes down to it, that thought gets negated by the fact that their kid might have to share a classroom with a child who is physically, or worse: mentally handicapped.

To make matters worse, when I got home I had a voicemail from this woman telling me that the results of my not so routine mammogram were slightly abnormal, and could I please call her back. So I had to rely on her to give me information about what is and isn't normal about my scans, and had to rely on her to tell me "not to worry too much" while I wait 6 months to get another Xray and ultrasound, and to "try to enjoy the rest of my day."

Coming from her, it wasn't much consolation.

I am afraid for Isabella. And I am afraid for me.

UGH!! I dread the day when our girls start kindergarten together and she realizes that my kid is one of "those" kids that might make school boring for her kid. It seems like we are already opening the doors of kindergarten with our arms swinging in battle, and we haven't even started preschool this year yet. I hate realizing that most of the suffering that Isabella and our family will endure will have less to do with Kabuki Syndrome itself and more to do with society's standards for what is acceptable, normal, lovable and desired. When it comes to having a definite label for her, I am worried that it will now be a double edged sword. While it might open the door for opportunities in services for her (which I am seriously questioning will actually  happen), it might actually place her yet another step away from "normalcy" just because there is a name behind all of her differences.

There is a quote by Kathie Snow in her book Disability is Natural (which I have not yet read) that is really powerful:

"Your belief in your child and his potential has a greater influence over his success than his disability."

Can you imagine how influential to success it would be to have society believe in my child and her potential?

Let's Be Honest

For the past 4 and a half years, one of the things I've wanted most in life was a diagnosis for my daughter. Even when I was in denial and I knew I wasn't ready for one, I searched. I watched my baby as she worked so hard to reach her milestones, all while being so sick and weak, and I knew that I would never be at peace until I knew why she was struggling so much.

Three neurologists, 2 ENTs, a rheumatologist, a cardiologist, an opthamologist, a geneticist, 3 speech and language pathologists, 3 physical therapists, 2 occupational therapists, and numerous other doctors and specialists later, we were more sure than ever that something was wrong.

4 Chromosomal anaylis' and FISH tests, a spinal tap, X-rays, cat scans, heart echos, an EKG, a sedated hearing test, ear tube surgery, urine and stool analysis, a swallow study, a sleep apnea study, a VCUG, renal ultrasounds, metabolic workups, and an unbelievable amount of blood work later, and we still didn't have any definite answers.

Virus after virus, ear infection after ear infection, she suffered. Rotovirus, bouts of croup, dehydration, UTI, kidney infection, bronchitis, pneumonia, HFM, viral meningitis, seizures, 5 hospitalizations and upwards of 10 ER visits later and I was desperate for a reason why.

At different points along the way, I was SURE we were close to a diagnosis. Velo-cardio-facial, Raynaud's Syndrome, mosaic Down Syndrome, and severe dyspraxia were just a few of many avenues explored. I mourned the possibility of each of these diagnosis' deeply until, once again, tests would reveal nothing. I hit rock bottom when a neurologist told me she thought she had a mitochondrial disorder, only to have another neurologist say a few months later that he thought she might have something else.

Finally, in March, when all other doctors had thrown up their hands, and all possible referrals to specialists had been exhausted, her geneticist mentioned Kabuki Syndrome.

And for a minute, for the first time since the day she was born, I felt like I could breathe again. I finally had a glimmer of hope that, if her blood work confirmed this diagnosis, she wouldn't be a medical mystery any longer. I could stop researching and finally know that she had a definite answer for each of her symptoms, and it wasn't something that would kill her. I reached out and connected with other Kabuki families around the world, and I didn't feel so alone anymore.

I saw the hope that a diagnosis would bring us, and I prayed endlessly for a positive result to the genetic test. A diagnosis would mean I had a concrete explanation to give her someday when she wonders about why she is different. A diagnosis would mean she wasn't suffering from something worse, something progressive. It would mean we would know that we had been doing everything we could to help her all along, and we could stop worrying that there was something more this whole time that we should have been doing to make her better. It would mean she would have others out there that are like her, and we could go to them and their families with our questions and our need for support. It would mean we would know a little more about what to expect for her future, and we could watch and plan for future medical issues. It would mean I could raise awareness for something, and maybe help another family who was searching for answers find the path to a diagnosis. It would mean I could have more children, and not worry that they could potentially suffer like my Bells has.

A diagnosis for Isabella would mean everything.

When the geneticist called Tuesday morning with the news I had waited so long for, the relief that I had expected to feel was there. But what I didn't realize was that in my planning for receiving this diagnosis, I didn't leave room for any other emotion. I thought the relief would wash the emotions of the past 4 and a half years away, and we would be only happy.

Being told of and accepting the possibility of a syndrome and actually having a proven diagnosis for your child are two very different things. I was not at all prepared for the flood of feelings that arrived after the initial shock of her diagnosis wore off.

I am sad. I am mad. I am scared. I am uncertain, and I am worried. Although I am not in denial, I cannot believe it.

My daughter has a syndrome. My baby has a genetic mutation. My Isabella has Kabuki Syndrome.

In all of these years of wanting a diagnosis for her, I am realizing that it is only because I knew there was a syndrome there to be found. Instead of allowing myself to feel the sadness for what I knew was obviously there, I chose to dive head first into fighting for answers, even if it left me feeling anxious and sick inside instead. I knew I could not have functioned if I was crying all day.

Now we have our answer. And I am still anxious and sick inside. But I am so, so sad too.

I know I asked for this diagnosis. But I never wanted this for my child. I don't want her to have to continue to struggle with things that most people take for granted. I want her to have the easiest life possible, and just having a label for her now makes that even more questionable.

Looking back, it seems crazy that my reality of a dream come true is a diagnosis of a genetic syndrome for my daughter.

Let's be honest. That sucks.

So to lay it all out, finally having this diagnosis has been harder than I expected. Nik is doing well, but it is hitting him too. I can't even really explain why, as we knew she had something, and this is SO much better than some other syndromes and diseases she could have had, but it is just so hard to believe. I know that we will be okay, and that given a few weeks time the pain that reality sometimes brings will fade into the background of every day life. We are still raising the same beautiful and perfect child that we were before we knew which exact gene of hers was different. I am still SO grateful and relieved that we finally know. I just need a little while to come to terms with the life we have lived for the past almost five years, and to grieve the life I had planned for my child before she was born. I believe her future will be far brighter and more beautiful than anything I could have dreamed for her, and I have to have faith in that now more than ever.

We have an appointment with her geneticist tomorrow, so hopefully that will bring answers to some of our fear-filled questions, and a sense of finality and closure to our lengthy search.

And we will begin celebrating the joys that a tiny alteration on a tiny exon on one gene out of 25,000 has brought to our lives.

We are so thankful for this girl.

...And the results are in....

My sweet baby girl is positive for a mutation in the MLL2 gene (specifically exon 48).

Isabella has Kabuki Syndrome.

Backwards

back*wards (adj.)

1. Directed or facing toward the back or rear
2. Done or arranged in a manner or order that is opposite to previous occurrence or normal use
3. Behind others in progress or development
(adv.)
4. Toward a worse or less advanced condition or state
(The American Heritage Dictionary of the English Language, 4th Edition)

We were at the checkout line at the grocery store on Sunday when a man I recognized as the store's greeter walked by our aisle. While I was paying, Isabella was sitting in the front of the cart, softly singing to herself. The man stopped at the end of our line and tried to say hello to Noah, who ignored him. I offered the man an apologetic smile, and started to turn away.

The man bent lower to Isabella and said to her "Hello young lady." She stopped singing, raised her head and looked at the man with curious eyes. The man looked back at her closely, and then spoke to her again.

"Ohhh. You're backwards, aren't you?"

My heart stopped for a beat. I looked at the man who was looking at me now. "What did you say to her?" I asked him.

"Is your daughter a bit backwards?"

I couldn't speak. I couldn't wrap my head around what he had just said, and for a moment, while I tried to digest that he meant what I though he had meant, I felt the lump in my throat that was restricting my speech threatening to never let me breath again.

I looked at Isabella, who was looking down at her hands and had resumed softly singing to herself. I looked back to the man again, and then turned away from him, and left the store with my family.

I should have educated him on the proper way to "greet" people. I should have enlightened him a bit on the world of special needs, and what is and isn't okay to say to people. But I was too stunned to react, and for that I am, in a way, grateful. Because I don't think I would have been very nice.

We live in a world designed for right handed people with only the smallest of concessions made for those who lead with the "wrong" hand. And when the left handed are seen struggling to find ease in the day to day rituals created to make life easier for the right handed, they are mocked, misunderstood, and not respected enough to allow for time to adjust to a world that is awkward for them, a world that defines different as wrong.




Although right handed, my baby lives
in a world that wasn't designed for her

 

Instead of forward progress toward finding universal respect and dignity for others who are different from us, this man's comments took us all backwards in time, and for a moment, I was standing alone in a packed grocery store, wondering how, despite hundreds of years of people sacrificing all they had for an ounce of respect, acceptance and love, one look into the eyes of an innocent and perfect soul could make a man, whose job it was to make people feel WELCOME, could instead isolate my daughter to an island named Different. A place where many forward facing people pray they never have to visit.

I don't think this man meant to hurt us. I don't think he was trying to make a four year old girl wonder if she was doing something wrong just for being who she is. His words alone made clear that he was out of touch with the current politically correct terminology. But to address Isabella like this, to let it be known that his first judgement of her was based on how she looked, and that someday someone else might say something like this to her and she will be old enough to internalize it all makes me sick inside. I know not all people are this way, and that speaks for itself in the 4 and a half years we have gone without uneducated comments like these. But one man's careless observation opened the curtains for me to see the scary and cruel future that Isabella could face, and once again, my world has changed.

Although I had thought that my acceptance of Isabella's syndrome allowed me to be rewarded with a body armor that would deflect life's cruel blows, and protect me from some of the pain that denial creates, this man taught me that instead of a solid shield, my bones of acceptance are more like ribs, designed to guard my vulnerability, but leaving empty spaces in between to allow for threatening stabs in the most tender parts of my being. No matter how educated, advocating, and forward we are, we are never exempt from the pain of rejection, disapproval, and not being understood. I guess I still have room in me where denial lives because part of the pain I had from this encounter was in realizing that she doesn't have an invisible disability, that the outside world can recognize it, and that no amount of therapy and intervention will ever completely cover up the disordered beauty that lives in her brain. And despite her rapid progress, as she ages it becomes more obvious: what was once looked at as sweet, cute, and quirky is now becoming peculiar, abnormal, and backwards.

At first, I was horribly offended by the terminology he used, but I decided to see how I could make sense of this once benign and now so ugly word. In some ways, Isabella is backwards, like a walking mirror, trying through observation to imitate things often times in an opposite manner of what comes naturally, just to keep others from noticing that she is on the other side of the glass.

When we are lost, sometimes going backwards is the quickest and most logical choice to find our way back home. By being "backwards", Isabella is always one step closer to the pure innocence she had when she was created.

In this maze of life, maybe we should all try going backwards to get to our destinations. Maybe it will slow us down enough to experience all that we are missing. And if it makes us half as happy as it makes Isabella, I'd say finding the meaning of life will happen somewhere along that backwards path.



And if backwards is wrong, I'd much rather be Isabella than be "right"