Isabella Grace-ious

Isabella Grace
The story of the girl who changes my life

Wednesday, August 10, 2011

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.

1 comment:

  1. xxx Wow - once again I feel as if I am reading something I could have written myself. The journey and emotions you describe are eerily similar to so much we've been through with Sophie, and just reading your words brings tears to my eyes again. I wish you lived over here In Oz so I could give you a big hug. So much grief and loss and so much love and joy for our little ones and what they bring to our lives. The double-edged sword of a diagnosis. I'm guessing the grief will well up again and again at certain points over the lifetime we will share with our daughters. But I'm hoping/ feeling that the grief, sadness, anxiety, anger etc you are feeling right now might be just a tiny bit less devestating and overwhelming than some of the feelings you may have had earlier in this journey. I also believe that these feelings will transform into something that feels a bit more manageable sometime in the not too distant future - maybe not today, not tomorrow, not the next day - but they will. I believe each step we take on this journey helps to build our endurance, compassion, and ability to enjoy the small things. (Well I believe that on a good day - on a bad day I just think the whole deal sucks!) I'm sorry you are having a tought time today. My thoughts are with you. Big hugs, Kath