THE ISAAC FOUNDATION

Love

PROVIDING SUPPORT AND ADVOCACY TO PATIENTS AND FAMILIES COPING WITH MPS DISEASES
Our Mission Statement

Our Mission Statement

 

Love, Laughter, and Hope

The Isaac Foundation’s mission is to fund innovative research projects that aim to find a cure for MPS, a rare, debilitating, and devastating disease.  

We provide support for families of individuals suffering from MPS and advocate on their behalf to ensure government funding for expensive, life-sustaining treatments are covered by the health care system.

Since 2007, we have provided over $600,000 to research grants that seek to cure MPS. We will continue to work tirelessly to raise awareness of this disease, and support and educate families as they deal with the devastating diagnosis that MPS can bring, until we find a cure.

5th Annual GALA FOR A CURE!

Featuring Multiple Juno Award Nominee DANNY MICHEL! 
Danny Michel Cutout

Danny Michel will perform at the GALA FOR A CURE on November 15th, 2014.

Danny Michel has reached a point where his musical vocabulary is so broad, his songwriting and arranging chops so sharp, his guitar playing so distinctive and his taste for the right sonic touch so impeccable that he can do whatever he wants and make it compelling. EYE MAGAZINE 5/5 STAR REVIEW

We are pleased to announce that multiple Juno Nominee Danny Michel will be returning to perform an intimate show at our 5th Annual GALA FOR A CURE!

Our evening will feature wine tasting, an extensive silent auction, dinner, awards, a dance, and an intimate musical performance by multiple Juno Award Nominee, Danny Michel!  Proceeds from our event will support leading edge medical research that is very close to finding a cure for the rare and progressive disease, MPS VI.

Danny’s official biography notes, “With three JUNO nominations, the Polaris Prize long list and a pile of albums under his belt, Danny Michel is unquestionably one of Canada’s finest songwriters. His thoughtful lyrics & earnest performances have earned him a devoted global fan base. A musical chameleon, able to slip into many genres with ease. He is an adventurous & fearless artist.

Once again, Michael George will be our opening act.  Michael’s incredible songwriting ability, coupled with his beautiful voice and delivery, has made him Gala Favourite.  Michael has performed at every Gala we have hosted, and our guests always want him back for more!  The Isaac Foundation is thrilled to welcome both Danny and Michael back for our 5th Annual GALA FOR A CURE!  Their kindness, warm heart, and true friendship to Isaac and all kids suffering from MPS is something we cherish and their commitment to our organization helps carry us as we seek to find a cure for our kids.

PURCHASE TICKETS!

Sincere Thanks To Our Growing List of Sponsors! 

 

 

Sponsors-2014

Isaac’s Story

Isaac was born on April 14, 2004.  Our midwives arrived at our home just in time to deliver a 10 lb 1 oz baby boy, much to everyone’s surprise.  I’m not sure which was more remarkable; the fact that we had him at home or that at 37 week gestation Isaac was already 10 lbs!

He was a dream baby.  He rarely cried, nursed well, slept lots and was incredibly content.  We were followed by the midwives for the first 6 weeks after his birth, and at our final appointment were informed that he had some symptoms of a rare overgrowth disorder called Beckwith Wiedemann Syndrome.  We were naturally very upset.  A referral was made to the Hospital for Sick Children (HSC), and so our journey began.

Isaac was followed regularly by Dr. R. Weksberg and Cheryl Shuman in the Genetics Department at HSC.  The diagnosis of Beckwith Wiedemann Syndrome was never confirmed, and over time they became more puzzled by Isaac.  He didn’t quite fit into any of the known overgrowth disorders, yet he presented with enough symptoms to warrant follow-up.  Some of these symptoms included growth over the 97th percentile, an umbilical and inguinal hernia, ear pinches and enlarged liver and spleen.

On September 28th, 2005, we were at a routine appointment at HSC with both Dr.  Weksberg and Cheryl.  We mentioned that Isaac’s lower back was slightly rounded, without thinking much of it.  This prompted Dr. Weksberg to ask a whole new series of questions, as well as order a back X-Ray and urine test.   She didn’t tell us what she was investigating at the time, and we weren’t worried.

The following day we received a phone call from Cheryl, asking us to come to HSC for an appointment with Dr. Joe Clarke first thing the next morning.  We panicked.  She only told us that they felt Isaac had a different type of disorder altogether, something called an Inborn Error of Metabolism.  My first question was whether this would be fatal, and Cheryl said something about there being a wide range of types and severity within this broad classification…but she didn’t say no.

We drove to Toronto that night and spent a sleepless night in a hotel.  Our imaginations were running wild, but what Dr. Clarke told us the next morning was beyond our greatest creativity.  Isaac had an enzyme deficiency, which was apparent by a buildup of compounds in his skeleton and urine.  Dr. Clarke felt it was likely either MPS I or II, and required more tests to confirm a diagnosis.
He proceeded to talk about many things that morning, including Isaac’s joints stiffening over time, his growth being stunted, his heart valves failing, the numerous operations he’ll require like hip replacements and corneal transplants, but most memorable was the moment he discussed lifespan.  No matter which disease and severity, the age ranges were all too short.

It was a week before we received the results from the blood work, and we were surprised to learn that Isaac had a different and rarer form of the disease – MPS VI.  We are very grateful that this type of enzyme deficiency does not cause a buildup of compounds in the brain and therefore Isaac will be of normal intelligence; however all of the physical problems remain.  Dr. Clarke feels that because Isaac has presented at such a young age, he must have at least a moderately severe case of MPS VI.

Already Isaac is unable to extend his arms directly over his head due to stiffness of the shoulder joints.  He also suffers from corneal clouding, enlarged organs, and an umbilical hernia, which will be operated on in November of 2006.  In addition, Isaac has had major spinal cord surgery this past April to relieve severe compression just below his brainstem.  We were fortunate to have become aware of this compression via an MRI scan prior to it causing any clinical symptoms.

There is no cure for MPS VI, although in June of 2005 a new therapy was approved by the U.S. FDA called Naglazyme.  This is a type of Enzyme Replacement Therapy (ERT) requiring IV infusions of the enzyme that Isaac is missing – once per week for the rest of his life.  The cost runs between $300,000 and $1,000,000 per year, depending on body weight.  We spent the next 8 months lobbying the provincial government to pay for this treatment, after learning we could bring it to Canada under the Special Access Program.  Our story was on the front page of the Globe and Mail, in the Toronto Sun, Global TV, local papers and on the radio a number of times, and we were brought up in the Ontario Legislature two times by Elizabeth Witmer, the Opposition Health Critic.  In July of 2006 we finally got word from George Smitherman, Minister of Health, that the Ontario Government was willing to pay for Isaac’s ERT.

Since early September of 2007, we have been traveling to Sick Kids once per week to receive Isaac’s ERT infusion, with great success.  In the first 8 weeks he has grown one inch and his abdomen has shrunk b almost 3 inches.  We expect the enzyme to halt many of the symptoms that would have developed in Isaac, allowing him to have a good quality of life.  While we are thrilled to be receiving this therapy, the impact ERT will have on Isaac’s bones, heart and life span remains to be seen.  We believe it to be a temporary solution until a cure can be found for MPS VI.

f9068d1a05a011e3b96f22000aeb0cca_7MPS VI is considered an ultra rare disease (we are aware of only 3 other affected children in Canada).  There is minimal funding allocated specifically toward research into treatment of this disease, and most of the medical community in unaware of it’s very existence.  Dr. Clarke has informed us that it takes approximately $100,000 per year to run one project with one researcher full time.  So that has become our goal, to fund research so that a better treatment and cure for MPS VI can be found in time for our son.

**** Isaac with his friend, mentor, and hero, John Mayer.

News From Our Blog

We'll do our best to keep our news blog updated. Check back often to read what's happening at The Isaac Foundation and with MPS throughout Canada!

Isaac Update – Corneal Transplant

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Hi Everyone, I've just returned from one of the most rewarding weeks I've ever had in my role as Executive Director of The Isaac Foundation.  I'll save updating on all that was the MPS and Adulthood Conference for another blog posting.  For now, I wanted to give you an update on Isaac's health as the conference, for me, was overshadowed by the

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Always a trooper. #Brave

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Quick...well not that quick, visit to Sick Kids Hospital in Toronto today for Orthopaedic Surgeon followup. It was a 4 hour wait (really, this needs to be fixed) to see the surgeon, but he had great news! Isaac's kyphosis (curvature of the spine) has improved by 4%, and his slipped disc has corrected itself. While we can't be certain, we're

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FOUNDATION RENEWS CALL FOR COMMITMENT TO RARE DISEASES

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- FOR IMMEDIATE RELEASE - PC Leadership Candidates Continue Silence On Funding For Rare Disease Treatments in Alberta In a leadership race widely criticized as being void of ideas and real policy debate, The Isaac Foundation is again offering candidates an opportunity to get on record about an issue affecting the lives of a number of Alberta children. Last week,

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  • ATTN #byelxn14 PCs, esp. @JimPrentice- Will the PCs support rare disease treatments like @heathermla & @ElectDanielle did for little Aleena?

    Andrew McFadyen about 1 days ago
  • ATTN #byelxn14 PCs, esp. @SMandel_yeg- Will the PCs support rare disease treatments like @heathermla & @ElectDanielle did for little Aleena?

    Andrew McFadyen about 1 days ago
  • I was lucky to be here for this brave guy's last infusion at Sick Kids! Home infusions begin next… http://t.co/NfZ9hZmAyQ

    Andrew McFadyen about 2 days ago
  • I was lucky to be here for this brave guy's last infusion at Sick Kids! Home infusions begin next… http://t.co/rxESnf54Mn

    Andrew McFadyen about 2 days ago
  • RT @cambroten: That's outrageous! It's high time this govt worried less about OPTICS and focused on fixing the BASICS in our hospitals & ca…

    Andrew McFadyen about 2 days ago

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