Isabella Grace-ious

Isabella Grace
The story of the girl who changes my life

Thursday, October 14, 2010

Weight of the World

I woke up yesterday morning with the weight of the world on my shoulders. And I mean that in the most literal and positive way. Both of my little loves were in that dreamy half asleep state where they cuddle deeper under the covers and crawl closer to me so that they can rest their heads on my shoulders for just a few minutes longer before our day begins. And as I soaked up the last moments of their warmth next to me I thought this is IT. This is what my life is for. They are my world and they give my world meaning and purpose and weight. And it was heavenly.

But our heavenly moment didn't last long. It would be next to unheard of for these wild monkeys to stay in bed past 7am, so we were downstairs getting ready for our day just moments later. And it was a day I had been dreading for a long time... we had an appointment with one of Isabella's neurologists at Akron Children's Hospital. With the same neurologist who told us about a year ago that due to high lactic acid levels in her blood, Isabella was most likely suffering from a mitochondrial metabolic disorder and we needed to see a specialist...stat. Well of course it would take over a month for our insurance to even cover seeing said specialist and a month longer for said specialist to even fit us into his booked-for-6-months schedule, and during those terrible, painful, incredibly long two months I did research. And it was terrifying. Everything I read was bad news, and I was a wreck. I was still in emotional trauma from Isabella's seizures and week long hospital stay a few weeks prior, and added to that this possible life shortening diagnosis, I didn't go an hour without a break down.

But ohhh the specialist. He was wonderful. He calmed my fears and told me that although we repeated the blood draws 3 times, all resulting in elevated lactic acid, the particular test is not always reliable on children because their struggling alone during the blood draw could falsely elevate the results. And after meeting Isabella he thought it was more likely she had some kind of genetic cause for her symptoms than a metabolic. He ordered some more tests, including more blood work for other possible markers for a metabolic disease, and did another whole right up for more genetic testing. A few weeks later her results all came back close enough to normal that we were still without a diagnosis, but we could neither rule out or in a metabolic disorder. He seemed very confident that she did not have one, however he said he could not rule out her showing signs of one later in life, as some people show no symptoms of these diseases for a whole lifetime until one day it strikes out of the blue. He reminded me that every day Isabella was progressing and not to worry. He referred us to an opthamologist who specializes in children with genetic disorders in hopes that he could pin point in what area of her DNA to search for a possible defect. He also told us to see a geneticist who could measure different areas of her body and put it in a database which would show others who have similar make ups in hopes we could find a diagnosis.

Soo off to more specialists. Unsurprisingly, our insurance shut us down immediately when it came to covering the genetics specialist. They would pick up the opthamologist, so we made the appointment. He did all kinds of tests and gave her eyes a clean bill of health...her vision was fine and he could not see anything to pinpoint any genetic malformations. (hoorayy!)

In the meantime, I had meetings with a nurse for BCMH (bureau for children with medical handicaps) who had been working with us for months to get us approved for funding. We weren't optimistic because BCMH only approves children with a diagnosis, and that diagnosis MUST fall under a list of things they cover. Somehow our miracle specialist of neurology in Cleveland wrote her file in such a way to get her covered (he diagnosed her with "unspecified seizure disorder with neurological components") and we got approved! But by the time this news made it to me, I was back to feeling happy and confident in Isabella's progress and I didn't want another doctor to bring me bad news. I chose to live in a bubble for a few months longer, and I didn't make the appointment with the geneticist.

Which brings us to Isabella's follow up appointment with her first neurologist in Akron. I was dreading it. I have not ONCE walked out of that office feeling good or confident or reassured. I knew I had only good and positive things to tell the doctor regarding Isabella's progress in the past few months, but I was scared of what she might say about how Isabella was still behind or weak in other areas.

So I rushed around yesterday packing lunches and toys and in-case-of-extreme-meltdown tootsie pops and we headed to Akron. I knew from experience to not go to that office alone, so I called my step-dad to meet me there to stay with Noah in the waiting room while Bells and I saw the doctor. One good thing about that place- they have an excellent waiting area complete with a slide, blocks, toy cars and a huge fish tank. The kids were in heaven, which helped ease my stomach nerves while I waited for her turn.

And then her name was called. We walked to the nurse's station so they could weigh her (35.5 pounds!!) and take her blood pressure (SHE LET THEM DO IT without a fight, and even giggled and said "that tickles!" What a change from a few short months ago- I was so proud!). When the doctor came in I informed her of all the progress she has made in the past year since her seizures including her HUGE language explosion (she went from about 40 words to an unlimited and ever increasing vocabulary including full sentences and question asking!). I told her about how she knows her ABCs and can count to 29. I told her about how she knows her colors and can count to 10 in Spanish. I told her about how she can jump and how she can memorize songs and books and knows her phone number. I bragged and bragged and told her probably too many useless-to-her facts. When I finally stopped the doctor turned to Isabella and started asking her questions about school and her colors and what she would be for Halloween. She answered every question, pointed to every object on a picture board the doc showed her, and showed her how she can jump and run (albeit awkwardly). I watched Isabella do this with a fist around my heart. The past nearly 4 years of her life flashed through my mind and I couldn't believe how far she has come and how much she has endured to get to this place. Every parent knows what pride is, but how I feel for Isabella goes so beyond that.

When she was done with showing off her skills, I asked the doctor how she felt about Bella's progress. I asked her how far behind she really thinks she is, and if she is closing the gap now that she is talking so much and telling us how much she really knows. The doctor said that yeah, she agrees that her understanding of language is 100%, and that she has an appropriate amount of words and sentence structure for a child her age, but that her fluency and annunciation were lower than normal. She thought that much of this is due to her hypotonia, but that we should ask Isabella's ENT to check her throat with a scope to make sure there were no anomalies causing her speech problems. She also thought that we should look into going to a private speech therapist again in addition to the therapy she is getting in school.

Then she asked about the metabolic results. I told her everything that we had learned from the specialist and she seemed doubtful that her high lactic acid was a result of faulty testing techniques. She decided that she wants to investigate this further with a special type of MRI called an MRS. This new test looks at the amount of lactate build up in the brain to determine if her lactic acid is elevated there. If this test shows that it is, it is quite indicative of a metabolic disorder. The test requires around 45 mins of sedation. She also agreed with the specialist that we need to see a geneticist.

So we scheduled the MRS for Nov. 23rd and I made a mental note to call insurance about the geneticist again, and I walked to my car feeling like my safety bubble of contentment had popped and I was left with a mess of nerves and fear and 'what ifs' and 'whys' that I was a few months ago. I drove home with two sleepy kids and thought about how I have a choice. I could let this fear paralyze me or I could work through it and continue to enjoy my kids while I fight for my daughter's health and future. I chose the latter...because although it is a constant struggle with setbacks and unknowns, I need to know that I am doing everything for Isabella that I can, and if we find a diagnosis that has a course of treatment for her that we are not currently following, maybe it can help her to progress even further. My happiness rises and sets on my children and will do anything to make them happy and healthy and safe and thriving in return. I have been through the fear of being a mother of a special needs child for almost FOUR years now, and with it comes the most unbelievable feelings of pride, success, happiness and excitement of what is to come. I can and will do anything for these kids. I CAN DO THIS.

After the kids were in bed Nik and I talked for a long time. We realized that even if we find a diagnosis, Isabella will still be the same amazing, happy, sweet and gentle child that she has always been. Her life might be different than the average child, or it might not be. But as her parents, we will search for and provide her with every opportunity available to enrich her life. It is amazing to me that although it is our job as parents to teach her about kindness and empathy and love, she has already taught me more about that in these past four years than I had learned in the twenty something years before she came into this world. This child has a soul that seems to understand the deeper meaning of life and why we are here and how to live and love and make an impact. And she teaches me about it every day.
Before we got into bed I scooped Isabella from hers and Nik grabbed a sleeping Noah from his crib and we all cuddled up together in our bed. I just needed to be close to them all. I put one arm under Bells' head and the other under Noah's and I fell asleep....with the weight of the world on my shoulders.

1 comment:

  1. wow. i had no idea that you were going through that, mikaela. those trips to the hospital are never fun, and as you told about it, i had a knot in my stomach like i get for my own child.

    i have to tell you that i love the way you write... just like you talk, and so easy to follow along. it's like a conversation in your head, there for us to read and i appreciate you spilling your thoughts onto virtual paper. your words are therapeutic to me. :)

    thanks for sharing. :)