Tonight as Michael and I were talking about SMA related things (a usual daily occurrence), we stopped and noticed how we're really living in two different worlds. We have "our" world. The world we've been used to. And then we have the "SMA" world. Both worlds together now make up our life. But they are still very separate. "Our" world (the old world we were used to) included many things… Our families. Our friends. Our church. Our work. Our day-to-day activities with the kids (preschool, play dates, etc.). Other day-to-day activities such as running errands, doing laundry/housework, managing our finances, etc. And then there's the new world. The "SMA" world. This world has a whole new set of things (not replacing our "old" things, but adding to them)… Therapies. Doctor Appointments. Equipment. Emotions. A whole new set of emotions that we didn't even know existed. That we didn't real...

There could be a lot said for the past year, 2011.  There could also be a lot not said.  Looking back over the year in review I cannot help but sit back, take a deep breath, and sigh...  I sigh for lives lost and for precious lives gifted to us... I sigh for dreams lost and for depth of soul gained... I sigh for arguments waged and for forgiveness expressed... I sigh for seemingly endless moments of fear and for comforts found in an embrace... I sigh for rising anger within and for capturing peaceful glimpses of time... I sigh for struggles endured and for victories celebrated... I sigh for the loneliness that traps us and for the community that surrounds us... I sigh for the chance to give and for the humbleness to receive... I sigh for missing old friends and for the ones that once again emerged along with the new people filling our lives... I sigh for my children's pain and for the healing hand of God... I sigh for the exhaustion we've taken on and for the...

1 to 6. That's how long Ella was up Thursday night; from 1am to 6am. She has a cough. A simple cough...for you and me maybe, but not for a person suffering from SMA. This poor little kid. She was coughing the whole time. Well, trying to cough. Drawing in a breath strong enough to generate an exhale that will produce a cough capable of clearing her upper respiratory tubes is not something Ella can do. It's torture. And not just for the one who is suffering. She was almost gasping for a deep breath. A breath that couldn't be there. For close to 45 minutes Michael, in the wee hours of the morning, had Ella down in the family room performing chest PT (in an attempt to loosen up the phlegm in her chest) enough so her weak cough could have a better chance to expel properly. She lay on his lap, tummy down, head and upper body at a slight downward angle, and patiently let the chest PT (which is done on the chest, sides and back) do its work. She graciously allowed Mi...

Three-hundred eleven pounds. 15x the weight of Ella. Designed in Sweden. Astronomical price tag. Delivered to our house and received with mixed emotions. The Permobil K450 MX is here.   Having this piece of machinery in our house for our 18-month old daughter strikes many chords with us.   We are excited to have it because it means that Ella now has a long-term solution to her lack of mobility but it carries with it the reminder of what SMA is doing to her body. We are grateful that modern technology has equipped Ella with a state-of-the-art wheelchair that will allow her to experience the world in a way she hasn't yet and might not have without it.  It brings with it the awesome task of preparing her, Ava & Henry, and ourselves to live with this monster of a machine in our living spaces. We are in awe at the capabilities the Permobil boasts; it's versatility, power, and parent-friendly controls.  It calls us to the reality that our...

Earlier in the fall we learned that Ella's continued regression was not usually "typical" for a child with Type 2 SMA, which led to the new classification of "severe Type 2." However, we were told that at some point (hopefully in the near future) her regression would plateau for the time being. About a month or so ago, we started thinking that the regression had indeed slowed, if not stopped. We were very excited that we could finally start focusing on the skills she had, not worrying about what would be gone tomorrow. Or the day after that. But then a couple weeks ago, Ella all of a sudden lost the ability to lift her arms at her shoulders. She used to be able to lift them to almost 90 degrees. She can, however, still bend them up at her elbows. I told her PT about our concern last Tuesday, and she immediately saw what we were talking about. Ella couldn't reach for anything. She also noticed that Ella's neck muscles seemed weaker because her head...

Most people I have spoken with since Ella was diagnosed with SMA have told me that they had never heard of this disease.   Neither had we. Yet it remains one the most devastating genetic diseases out there. How does Spinal Muscular Atrophy happen anyway? The answer lies in the genes.  A single protein.   Here, it looks a little something like this... The SMN1 (Survival of Motor Neuron) gene is what people with Spinal Muscular Atrophy are missing. This gene produces the protein that keeps our motor neurons alive. The SMN1 (Survival of Motor Neuron) gene is located on chromosome #5. Mother nature produces two of these genes on chromosome #5: *an original ( SMN1 ): This is missing in people with SMA *and copies ( SMN2 ): People with SMA can have up to 6 copies The two models below show how SMN1 and SMN2    genes make their proteins and how Spinal Muscular Atrophy occurs: Normal SMN1 protein production ...

Yesterday I got our new 2012 calendar. In addition to our online calendar, we have a wall calendar that I write pretty much everything we do on.  It hangs on the side of our refrigerator, so I can have quick, easy access to it. The first thing I do when I make the switch from one year's calendar to the next is go through and write in all the obvious dates (birthdays, anniversaries, etc.).  I have the two calendars side-by-side, flipping through each month together.  Then I check our online calendar and go through and write any appointments or events that we already have scheduled for the new year. While going through the 2011 calendar, I found myself noticing the strange progression of our year.  Early in the year, things were fairly uneventful.  But then when the summer months hit, our weeks started filling with more and more doctor appointments. And then I came to August 12, 2011.  That dreadful day that I will never forget.  The day our lives ...