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 genome sequencing can look at 80% of your protein genes...most disease causing mutations are found in the proteins genes.

Exactly 3 years after Ian started major disease progression ...July 2, 2012; we got the call; the results of the whole genome sequencing were back and showed a VRK1 mutation. Exactly what does this mean; for one we now know what is causing all of Ian’s regression. Another thing we know, Ian is the 3rd documented case in the world; in 2009, the same mutation Ian has was reported in 2 young girls from an Ashkenazi Jewish family; many of the same neurological difficulties Ian demonstrates these girls had. VRK1 appears to be important for the survival of motor neurons (responsible for movement) and for the development and maintenance of a structure in the brain called the cerebellum. Spinal Muscular Atrophy [SMA] with Pontocerebellar Hypoplasia [PCH] Is Caused by a Mutation in the VRK1 Gene...at this time due to the rarity of VRK1; its role in processing and transmitting information by electrical and chemical signaling is very limited.  

To be clear; Ian does not have SMA or PCH, yet, he does have characteristics of both. Without the clinical diagnostic exome test, we would still be undiagnosed...according to Dr. Raymond...one would have had to be a genius to figure this out. The plan is for Ian to be treated as if he has SMA2...we actually have been doing all of what this entails except for one thing, we are waiting for MD appointments for our normal to continue changing.

As we adjust to our new normal....remember, Ian is imperfectly perfect. He is affectionate, brave, charming, compassionate, considerate, courageous, curious, dependable, determined, frustrated, funny, gentle, giving, imaginative, intelligent, lonely, loving, lucky, mischievous, picky, polite, quiet, rambunctious, respectful, scared, sensitive, silly, sincere, smart, sweet, talkative, terrified, thankful, warm-hearted, and wise. Brian and I resolved early on that we would not allow Ian — our beautiful, imperfectly perfect child — to be “just” a statistic. We want his life to have meaning and make a positive difference in this world. We will do whatever it takes to give him everything and anything he needs and deserves, just like we do for Becca.

As it has been said “Man plans, G-d laughs.” As I write this, a person, not a statistic, I know that, this time, G-d gave me the gift—along with Brian and Becca and all those who are a part of our village - the gift of laughing with Him.”