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.