Tuesday, July 24, 2012

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 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. 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.”


Carye said...

I am glad that you got some answers. Now the next chapter in your life will begin. Give me a call or email sometime so we can chat. I love your description of Ian. You are all a remarkable family!

Carye Everett

Anonymous said...

Your approach to the whole situation is something to be admired. You truly are very impressive in how you continue to move forward and make the best of what I know is an extremely difficult situation. Iain is very lucky to have you and Brian as parents!


Anonymous said...

What can I say, it is beautiful. What a family you have! Heart warming, wrenching, determined and so much love. Need I say more?

Melody Cooper

Anonymous said...


I am so glad that you finally have some answers. Ian is a remarkable boy with a remarkable family! That you for allowing to follow your journey through your blogs and updates. I miss you!

Jenn Orlando

Anonymous said...

Thanks for sharing this with us Marci Weinberg Scher! I shared with Mike and he sends his warm regards your way! Have you found a motorcycle yet? :)

Kendra Bober

Anonymous said...

finally a diagnosis

Annelise Sullivan

Anonymous said...

Wow, so glad you have finally gotten a diagnosis. Ian is such a beautiful boy and he always seems so happy. Despite all the struggles he faces, he is a ray of light that builds a rainbow. Keep up the great work Mom, Dad & Becca. You are all the perfect family that he needs.

Heather Schmidt Young

Anonymous said...

Mazel Tov on finding Ian's diagnosis. It's a wonderful relief when you finally know what to expect in the future. It's also a blessing to meet others in your exact same situation, with the same diagnosis. Love and kisses to your precious Ian. ♥

Susan Schwartz Tanenholz

Anonymous said...

That is great news...with a diagnosis comes a new normal! I am so glad to hear this.

Tara Webb

Anonymous said...

I'm so happy for you guys that you've found a diagnosis finally. It's so great that now they can come up with a treatment plan specific to his diagnosis. :-)

Amy Eisenberg Samay

Anonymous said...

A diagnosis is wonderful news. I agree - Ian is a gift!

Tamara Jayne Flax

Anonymous said...

I know you've been waiting a long time for this. With a diagnosis, you can now make plans, for treatment and the future. :)

Lisa Goldberg Burgunder

Lara Wynne said...

So glad there is finally a definitive diagnosis! It is because of your persistence and determination that there is finally some clarity. You should be proud of yourselves! I am proud of you and of course of the Amazing Ian!!

Ruth Cohen Ross said...

You're blog is wonderful. At last you have a diagnosis and I know you all are doing all you can for Ian. He is the sweetest child and let's hope he can enjoy each day to it's fullest. The blog can be very therapeutic for you. I hope it will be. XOX

Anonymous said...

Marci, I was led to your blog from a post on Facebook by SWAN. I happy you have gotten a diagnosis! I was wondering if there was anyway you could contact me via e-mail to talk a little bit. You see, my son is also undiagnosed and he has a deletion on chromosome 14 that includes the VRK1 gene. He inherited the deletion from his dad (and he is normal). The Dr.'s haven't completely ruled out that the VRK1 is the cause of his issues. I was wondering if I could share with you our symptoms to see how they compare to your son. Thank you!!

Shelly Thompson