Posts

Showing posts with the label SMA

15 Months - Shalva

Image
Fifteen months have passed. How can it be fifteen months since we've seen your face, your smile, heard your voice, your cluck, your laugh. Fifteen months since we've done your treatments, given you medicine, helped you with all of your needs. Fifteen months since our home was a revolving door for family, our village, nurses, Chai Lifeliine, Gilchrist. FIFTEEN MONTHS of us learning to live without your physical being, dealing with the roller coaster of grief, making memories without you, and learning our "new normal". A "new normal" which has been challenging, joyful, full of happiness and sadness, and lots of emotional growth. We continue to have our moments, which we will have for the rest of our life, of things happening and wanting to be able to share with Ian. Things which the four of us did together, which now the three of us do together...some feels ok, others not so much. 

I recently spent 10 days in Israel with Jewish Women's Renaissance Project …

Forward, Backwards and Tough Decisions

Image
That's all part of life, at least the life we were given. Forward...the bath chair ..to make a very long story as short as possible....Brian and I found some billing errors on the vendors end; we brought it to the attention of all the vendors concerned and corrections were made along with the vendor resubmitting a claim to Blue Cross Blue Shield of Illinois (we don't have BCBS of Maryland). Well with all the letters from the MD, etc, it was still denied by insurance stating it is a convince item...really. People still do some good things and the vendor informed us they were going to write it off...so the "convince" bath chair we need we can now keep and not have to worry about it. 

Somewhat backwards...after 7 years of being with our wonderful neuro-genetics, we had to say goodbye...our Dr. Raymond is moving onto new things for his career. While we are very happy for him, we are very sad for us. However, he did tell us that it has come at a good time for us, if you ca…

A New Normal...Diagnosis

Imagine one day everything being normal...whatever your normal is. Then in some way in a blink of an eye your normal changes...what will be your new normal?  July 4th weekend of 2009 our normal changed....and has continued to change over the past 3 years...July 2, 2012 our normal has changed and we will again look for our new normal. Ian is NO longer undiagnosed.....

March 2012, Brian, Becca, Ian and I continued our journey with Dr. Raymond and Lelia (our new and wonderful genetic counselor)...we were the 13th family through Kennedy Krieger Institute to have a whole genome sequencing test through Ambry Genetics. This test is different from anything we have ever had done, actually different then most people have ever had done. To explain it very simply...if you are looking at an aerial view of a map whole genome sequencing looks at the street views...traditional genetic testing looks at the state view of the aerial map or only 1 to a few specific genes at a time. Whole ge…