The journey begins, our new normal

            We had our first appointment since Izy’s official diagnoses last week. Every appointment so far has been a search for answers or new information, so I did not know what to expect. We saw a pulmonologist to establish a baseline by measuring the strength of her lungs and breathing. The doctor seemed genuinely surprised at how strong she is considering her diagnosis. Typically the chest is concaved but her chest is completely normal. They also took some x-rays to have a point for future comparisons. The doctor also re-informed us about how important it is for her to remain healthy and not get sick. Her last cold turned into bronchitis, and if she gets sick again in the future it could easily become pneumonia. She will not have the strength in her chest to effectively cough and clear her lungs, so we will have four machines at home to help monitor and assist her if she does get sick. Our next appointment is with an orthopedic clinic where they will most likely establish another baseline so we can monitor her progress or regression. Finally being able to prepare and begin planning for the future feels really good, yet at the same time it continually brings home the hard facts of what we will face in the future.

Through all of our searching for a diagnosis I was always hopeful that this would be something Izy would outgrow…that eventually walking and moving normally would come to her. Now that we know it most likely will not, I am left to find a new normal. The hours spent calling and meeting with doctors and agencies aiding in her health is continually growing. Everything we do takes a little extra time and effort than it “normally” would for a child without a disability. My need for sleep has been considerably reduced since 9pm to 2am is the quietest time in the house, and the best atmosphere for homework. Walking out of class to take calls from doctors, explaining to my instructor (and the rest of the class eavesdropping) that its not homework from another class I was working on but disability papers for my daughter. My car trunk now doubles as a filing cabinet because I never know when I will need information on hand. If I do not have the information that the doctors or agency offices need when they finally return my calls, I know it could be days or weeks before I get in touch with them again. While my persistent calls seem to mostly annoy the people on the other line, it is the way to assure that things get done. I am realizing more and more that she is just a name on a slip of paper to them. I understand that people are human and will forget things and make mistakes, but no one will fight for the things that she needs like I will.

Finding new ways to help keep her curiosity satisfied is yet another challenge. Sometimes I have to try and distract her when she wants to “walk” to go see something in a store. She can’t run around to pull things off the shelf and touch everything she sees to satisfy her curiosity. Giving her vibrant explanations provide the best distraction…for now. And so it begins, the process of discovering our new normal, but everything is starting to fall into place. Hopefully staying organized and timing my life to the minute will keep things under “control” and help keep me from going too crazy. Hopefully we can easily adjust as new obstacles come our way. I pray she will continue to be happy, and one day I will find the right words to explain to her why our lives our not “normal” like everyone else. 

Our first Fundraiser to help find a cure!

In celebration of Isabella's 2nd birthday and to help begin this journey ahead of us we have decided to host our first fund-raiser. If you would like you can go online to Izy’s gift registry page and make a donation. The donation page will list your name and give you the option of leaving a message. They will send you a receipt for tax purposes. If you have more questions look around their site or contact me! All the support we can get is appreciated. <3


Help us find a cure.
www.fsma.org/GiftReg/IsabellaDavis

Realization

No matter how many times I am asked if Izy is walking yet, I always struggle with answer. First thing that comes to my head is, “really again?” followed by a simple reply of “no she doesn’t walk” to which 9 times out of 10 is followed up by a “oh, she will soon”. From here I have a few options, depending on how awkward I want to make the situation. I can either follow it up with a nice, “yeah, hopefully” or the more brute “no, she probably never will” the latter gets an interesting response every time. I really do not feel any hostility towards the poser of this question. It is only that, most the time I feel as if Izy is so normal and this question reminds me she is not. This realization comes to me at different times and usually is followed by various stages of grief. Sometimes these stages last the week or repeat themselves throughout the day. I don’t see Izy any different just our life. I use to daydream of hiking to half dome with her, now I am researching off road tiers for wheelchairs. We will still make life happen it will just happen differently.

We have a series of appointments in the upcoming month. The most important ones will tell us how strong her breathing is and hopefully get her a specialized walker to help give her some independence. She will be very thrilled to be able to move on her own. She gets so frustrated as is, and constantly wants help to walk around the house. This is wonderful that she is working hard and eager to do her exercises but exhausting for everyone else. This walker is just what she needs. I am hoping that we can get it soon!

Along with these appointments in the following weeks we will be having a birthday party!!!!! Isabella is super excited for her “jumper and presents, happy birthday bell” as she says. I am really excited to see how our first fundraiser turns out. I am continually amazed at the loving support we keep receiving. I am looking forward to these fall months and finding out more about what is to come for Isabella.

Finding Hope

Isabella Joy was diagnosed with Spinal Muscular Atrophy (SMA) Type 2 this morning August 29, 2011.  A DNA test confirmed that she has a deletion of both her SNM1 genes.  As some of you know Izy has been undergoing testing for some time now. By nature, I prepared myself for the worst, but nothing could prepare me for the feeling in my stomach upon hearing that she has a terminal disease diagnosis.  I am beginning this blog to keep my friends and family posted on her condition. I will try to update it a few times a month and as we gain new information. Let’s start from the beginning.

            When Izy was around 5 months we noticed that she was not sitting up correctly. Her legs were not “frogging “out but instead her knees seemed stuck pointing up instead of out to the side.

Isabella 2 months

After consulting with her pediatrician, who also noted low muscle tone in her legs, we began our journey with a visit to the orthopedic doctor. He did x-rays and gave us exercises to do at home to help gain flexibility in her hips and bring her knees down.  On our follow up visit, a second set of x-rays determined that her bones where normal but that there was a problem elsewhere. We were referred to Children’s Hospital of Orange County (CHOC). Over the following months we saw a neurologist, metabolic specialist, geneticist and a second neurologist. Being that Izy was/is still young her doctors ran the least evasive test first, a series of blood tests, these cancelled out many other diagnoses. On June 28, 2011 Izy had an Electromyogram (EMG), which measures the electrical activity of muscles. This nerve conduction test measures how well and how fast the nerves can send electrical signals.

Izy had to be sedated in order to complete the test.  She showed a remarkable tolerance, which required 2 times the normal dose of one sedative and 4 times the normal dose of the second sedative.  After that, I asked the doctors to call it quits.   About 75% of the test was completed and from those results I first heard the words SMA.  The doctors all give you the best-case scenario and never want to confirm or deny anything that sounds too scary to be true. While this is a frustrating trait her doctors all seem to possess, it did make the process easier until finding a confirmation of her disease. Even still upon going home and immediately looking up everything I could on SMA the reality that something was seriously wrong began to set in.  For example, with Type 1 most children do not live beyond the age of 3. The doctor warned me not to go home and start panicking when I read information online. So I took her advice and waited till her next set of testing. Last week Izy and I went to the genetics center to have her blood drawn and today we met with her doctors and received confirmation of SMA type 2. While life expectancy depends on the individual most type 2 cases range from early adolescence to adulthood.

            Where I find hope, Isabella is getting stronger. SMA leads to several different complications over time and ultimately results in passing from complication. While it would be expected that she would already have begun to have decreased strength.  She has remained strong and has even shown some slight improvements. This gives me hope. There is a vast amount of research and resources devoted to finding a cure and treatment for SMA. I can only pray that through continued therapy and participation in the SMA community we can find a way to help Isabella and other children fighting this battle.

            I appreciate all the love and support I have been given through this process. I will keep everyone updated on how Izy is doing. While I am, personally, still struggling with this diagnosis, I will actively try to answer any question and respond to comments when I can. Please have patience with me, Isabella completes my life and the road ahead will not be easy for us.  The best way to contact me is through email or this blog. Please pray that we can continue to find hope.