This is a test, I pray this works.  t

On the 4th of May, Walmart presented Zach with....

A generous gift of $3000.00 and an Ipad!!!

Zach on the floor at the HPTH conference in Maryland. 

June 2012 

Zach and another little boy who was at the conference with his parents. 

These devices really come in handy!  lol!

We were and are still amazed at the generosity of the staff at the new

Super Walmart here in Spruce Grove.  May God bless them for their kindness and concern for Zach.

THANKYOU!!!!

XOXOXOXOXOXOXOX





This post is PAINFULLY overdue...

We have had an increadably crazy past two months and I promise to catch you all up to date! However, today we want to celebrate the one year Aniversary of the

"All For Him"

Fundraiser that was held for Zachary on July 1st, 2011.

Perry and I can hardly believe all that has happened.  18 months ago we were so sad and discouraged.  Zach was not getting the right care for his disease and we did not know what to do.  We cried out to God to make a way where there seemed to be no way...and He did.

He opened the hearts of many people and our help came.  The generosity that we have experienced has been very humbling.  We are forever grateful to all of you who have and continue to give to Zach's Fund.  On June 3rd, 2012, Zach and I made our 3rd trip in less than a year to the National Institutes of Health in Bethesda, Maryland.  God continues to amaze us at how He works out all the details.  We are so thankful for the Myshack\Secord families and their friendship.  Our  connection with them is special, we've shared laughter and tears.  We see the grace of God in their lives and are thankful for the blessing of their friendship.

  To the amazing staff at Anixter ( Perry's work). They have shown us genuine compassion and understanding beyond what most employers ever would.  They were instrumental in helping Ashley and Jessica with the fundraiser preperations and continue to support us.Thank you SOOOO much!

The fundraiser inspired so many to help Zachy.  We want each and everyone of you to know that all you've done is appreciated.  There truly are no words that would convey the way we feel.

 Our hearts  overflow with gratitude

  Thank you, Thankyou, Thank you!!!

XOXOXOXOXOXOXOXO

Love, Perry and Tanis

Jacob, Zachary, Olivia and David

An Answer

The human body is amazing.  It's complexity is truly beyond comprehension.  Just over TWO years ago Zach was diagnosed with Idiopathic Hypoparathyroidism
(Idiopathic is a fancy doctors word for "we don't have a clue").

 If you've been following this blog then you will remember that this winter we had Zach's blood tested to see what mutation he has and as it turns out, he has a NEW variant that's not been documented.  This prompted the Geneticist to analyse both mine and Perry's blood
to see if we genetically passed it to him.

Neither Perry or I carry the A784V variant that Zach has.

 "This result indicates that...this variant has arisen de nova in the child, providing support that

 A784V is a disease causing mutation."

I've come to the conclusion that the best part about Genetics is that
 there really is no right answer..lol. 

So, if you are lost and confused...my work here is done..... 

 Here is some Genetics 101

De Nova Mutation:  An alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself

Disease causing mutation:  A gene alteration that causes or predisposes an individual

to a specific disease

http://ghr.nlm.nih.gov/

More info...pretty amazing....

The first genome (a complete set of DNA) cost three billion dollars to sequence and took ten years – they can do one now for a couple thousand dollars in a few days. That means you can scan through the entire genome in any affected individual for mutated genes. The problem is we each carry hundreds of such mutations, making it difficult to recognise the ones that are really causing disease.

The solution is to sequence the DNA of large numbers of people with the same condition and see if the same genes pop up multiple times.  And that is where it gets interesting.  Zach has a NEW mutation that has not been documented. So although there are a few people with a mutation in the CASR gene, their mutations are in a different location than his.

Our bodies are so complex and each one so unique.

Save on....Support

Last June, Global TV Edmonton ran a story on Zach and our situation.  This was "instigated" by Ashley and Jessica.  They called up SuLing Goh at Global an told her about how they wanted to help our family so that we could get to the states for treatment.  When it aired on the 6 o'clock news a man named GEO was watching.  He felt the need to reach out to our family.  He contacted Global and they put him in contact with Jessica and Ashley.

On July 1st last year at the fundraiser, they surprised us with $1800.00 in Save On Foods gift cards!  They also promised us that they would continue to support Zach.  True to their word, on March 24th, 2012 Save On Foods opened up The Brand New Spruce Grove Location.  We were invited to attend the opening of this beautiful store.  They held a silent Auction for Zach and raised $3000.00!  The Silent Auction items were AMAZING and we are humbled by the generous support of this

community we live in.

Perry and Geo and the kids at the opening of

The Spruce Grove Save On Foods

Perry,  Steve and the kids

Steve is the store manager of the

 Save On Foods in Spruce Grove

I can tell you one thing, accepting these generous gifts does NOT get easier.  It puts a lump in our throats and our hearts overflow with thankfulness.  For so long we felt  alone in this battle.  I just wanted to find another family somewhere who had a child with the same disease as Zach.  I thought that would make it easier.  However, God saw fit to give us a child with a disease that truly is "one of a kind".  Then, He surrounded us with a supportive community that has blessed us far and above what we could ever imagine. 

Thank you for your prayers, your love, support and generosity.

May God Bless you, everyone!

XOXOXOXOXO



Update

Hi!  We are still basking in our memories of the Make A Wish trip.  It was so wonderful.  Many of you have been asking "what's up" so here is  an update.

Within the next two weeks we should hear the results of the genetic testing that is being done on Perry and I.  This is being done to determine the cause of Zach's "current diagnosis..."heterozygous C>T nucleoitde substitution in exon 7 of the CASR gene". LOL.  Regardless as to what they find out, we have peace and know that even though this is "new" to the doctors, God is Sovereign over all His creation.  Nothing takes Him by surprise. 

Our next trip to Maryland will be from June 6th to the th.  This trip has two purposes.  From the 6th to the 9th, Zach and I will be attending the 6th annual Hypoparathyroid Conference in Rockyville Maryland.  Its about 20 min. from the NIH hospital.  I am very excited to go and learn more from the amazing Doctors and researches that are there.  Perry and I were so blessed to go last year and that is how we finally connected with Dr. Winer and how Zach got into NIH!

Last fall, they asked if I would speak at the conference this year.  This is the list of speakers:
Maria Brandi, MD - University of Florence, Italy
Michael Mannstadt, MD - Harvard University, Massachusetts General
Harald Jueppner, MD - Harvard University, Massachusetts General
Michael A, Levine, MD - Children's Hospital of Philadelphia
Dolores Shoback, MD - University of California, San Francisco
Aliya Kahn, MD - McMaster University, Ontario, Canada
Daniel T. Ruan, MD - Boston, Massachusetts
Michael Collins, MD - NIH
Rachel Gafni, MD - NIH
Karen Winer, MD - NIH
Bart Clarke, MD - Mayo Clinic, Rochester, MN
Barry Bennett, MD - Idaho Falls, ID
Martin Nusynowitz, MD - retired; Keynote Speaker
Glynn Voisin, Esq.
Tanis Klassen
Jim Sliney, Jr - Research Assistant Columbia University
For more information here is the link
https://www.hpth.org/event/6th_Patient_Conf.html

After the conference is done on Saturday, Zach and I will head to NIH for 2 solid days of Doctor appointments and testing.  We get back to good old Alberta on the 13th.

Zach has been doing very well.  They are keeping his calcium in the lower range to prevent an increase in the calcification's in his body.  This is necessary, however it does make him more symptomatic.  He handles it very well and is getting very good and "knowing" what his body needs.  We've had some concern regarding his joints.  I will post more about this latter.

We are thankful for all the prayers and concerns.  We cherish your words of encouragement and support.  Have a great week! luv t

Wish trip

Thought I'd post some more pictures from our trip!

We keeping looking at the pictures over and over....somebody pinch me!