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!



Make A Wish

Zachary's Wish.....to swim with a Dolphin...

Jenny and Zach. 

Zach absolutely adored her..you can see it in his eyes.

From March 12th to the 20th our family was blessed to go on a Very Special trip.  Last summer Zach's paediatrician and his amazing staff recommended Zach to the Make A Wish Foundation.  Zach has always loved water, it was one of the first words he ever said.  Zach loves anything and everything to do with water.  In the past few years he has really become "obsessed" with the ocean and anything that is in it, however one "mammal"  in particular is his favourite...the "bottle nosed" Dolphin.  When they asked what his one wish would be...it was of course to swim with a Dolphin,

 and his wish came true! 

It was an amazing trip and not only did Zach get to swim with a dolphin, so did our entire family!

Jake and Jenny

Jenny and Olivia

I Love Olivia's little white teeth and Jenny's too!

Perry getting pulled thru the water with Jenny

So COOL!!!

Davey, Jenny and I.  Such a special moment.

This day at Discovery Cove was more than we could have ever hoped or dreamt.  We floated down the Lazy River, spent 2 hours in the Aviary feeding tropical birds out of our hands, swam with stingrays and so much more.  It was an unforgettable day.  We could have got right back on the plane and come home...but Make A Wish planned a WEEK long holiday that was just AMAZING!!!!

The following days we spent at Aquatica and a couple other parks.  The generous staff at Discovery Cove upgraded our passes so that we were able to spend a full day at Sea World.  Our whole family loves the Orca's and Zach has taught us that they are not really whales

but a kind of Dolphin. 

We had Front row seats!  It was AWESOME!!!

Another thing our kids love is African Animals. So, Make A Wish also gave us a day at

Disney's Animal Kingdom.  Amazing..

Kids at the Safari.

We decided to take our kids out to Clearwater to see a famous Dolphin named "Winter".  Winter was rescued and then lost her tail.  She is at an aquarium in Clearwater where they care for injured marine animals.  Our kids loved the movie and have been very concerned for her.  It was a very special day.

Looking at Winter and Panama

 We are so blessed to have had this experience and share it as a family.

  Thankyou to everyone for you prayers. Even though Zach has a rare disease and still faces many challenges, God continues to show us His kindness and His faithfulness beyond what we could ever wish for... 

 "Now to Him who is able to do far more abundantly beyond all that we ask or think, according to the power that works within us,  to Him be the glory in the church and in Christ Jesus to all generations forever and ever. Amen".

Ephesians 3:20 and 21

Discovery Cove 2012





The Make-A-Wish Foundation® of Northern Alberta"We grant the wishes of children with life threatening medical conditions to enrich the human experience with hope, strength, and joy".

http://www.makeawishna.ca/wishes/



Stollery Radiothon 2012

Zach and I getting ready to go on air with CISN country.

We've been in Alberta 9 years....it is hard to believe. 

Leaving our family back in Saskatchewan 9 years ago was one of the hardest things we've ever done.  I remember crying and saying "I miss my mom".  It was so difficult, but it had to be done. 

We look at this picture of Zach sitting by my side at the radiothon and know that if we had not moved....

he would not be here.

God has watched over him and has provided in miraculous ways for him.  Thankyou to everyone for your concern and support. The kind words, prayers, cards and hugs are a beautiful blessing to our family.

Zach has been feeling pretty good over the past week, his calcium had been low and so they increased his PTH and his numbers came back up.  We are all getting pretty excited about the MAKE A WISH trip.  We are going to Florida.  They haven't told us much, but what we DO know is that Zach is going to get to swim with a dolphin...it will be a dream come true for him.

Figured I'd put some Radiothon pic's from past years...enjoy.

Zach on the air with Dr. Adamko

Zach and the guys from THE TEAM

2011 Stollery Radiothon



February 29th 2012 Happy Rare Disease Day!

:

"Hypoparathyroidism is a rare disorder in which the body produces insufficient levels of parathyroid hormone, the principal regulator of calcium and phosphorus. When the body has too little parathyroid hormone, blood calcium levels drop and phosphorus levels increase, which can cause muscular and neurological symptoms, as well as bone impairments. There is no approved hormone replacement for hypoparathyroidism. It is one of the few remaining hormone deficiency syndromes in which replacement therapy using the native hormone is not clinically available. Hypoparathyroidism is currently managed with large doses of calcium supplementation and active vitamin D therapy to raise the calcium levels in the blood and reduce the severity of symptoms. Over time, calcium may build up in the body and result in serious health risks, including calcifications in the kidneys, heart or brain".

Tomorrow Zach and I will be doing the radiothon for The Stollery Children's Hospital.  We will be on

Cisn Country at 9:15am

http://www.cisnfm.com/

CHED at 10:05am

http://www.630ched.com/

Thank you to everyone for your love, support and prayers.

XOXOXOXOXO