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Jake and ReneeDear Friends and Family,

I want to tell you a story about my little Jake. September 5, 2001 was a day that changed our lives forever. Jacob Randall Little "Jake" was born into this world like an angel from heaven. He was a sweet, mild tempered baby who was easily soothed by a song or story. When Jake looked into our eyes, we could tell that he had an incredible sense of wisdom and maturity about him, almost as though he knew what road he was headed down, even before we did. We realized, from that day on, what a true gift from God he was.

I remember, like it was yesterday when the doctors told me a few hours after his birth that he had a sacral dimple. He told me it was something normal, but that it should be examined further. When the results came back normal revealing no hole to his spine and no interference with his spinal cord, there was a tremendous sigh of relief....until, the dreaded word "HOWEVER"....

As the days, weeks, and months passed we noticed nothing out of the ordinary with my little Jake. So again began the tireless months spent at doctors' offices, sleepless nights, researching mucopolysaccharidoses (MPS) disorders, analyzing, guessing and questioning. It all stopped on one very still day in August 2003. I will never forget when our new geneticist, Dr. Pai, from the Medical University of South Carolina, called. He said," Renee, we have the test results back from Jake's skin biopsy, he does have Morquio syndrome (MPS-IV type A)."  I  had researched this one, it's not possible, I thought to myself. Jake doesn't have vision problems, he doesn't have hearing problems, his heart is Ok, his kidneys, his liver, everything was Ok, how can this be true? He explained, "This is a progressive disorder, these symptoms don't happen overnight....it's going to be Ok, this one is not the most severe." Dr. Pai uttered compassionately.

Children with Morquio syndrome have severe skeletal dysplasia, bone deformities, corneal clouding, conductive or nerve deafness, severe episodes of vomiting, heart disease which can ultimately lead to congenital heart failure early in their second and third decades of life. Essentially, he may have a shortened life span. Typically a child with Morquio is in a wheelchair by the age of 10. There are many challenges for people with Morquio, however, their brain will always be able to function normally. I said to myself, "Jake can still be and do anything, even if he can't walk. "

And Jake, well, he has brought so much joy, peace and love to so many people, that I am sure he was sent here for a reason. He has taught me what real suffering is. Suffering is not the sale item you missed, it's not the person who pulled out to fast in front of you, rather it's the child that may never walk again, it's the child that will be so challenged to fit in and to prove oneself just because he may not look normal on the outside. It's the child so full of love, dreams and ambitions, yet he struggles to find his place in this world. It's the child who struggles to climb a flight of stairs as his peers glide up beside him. That' s the toughest part for us, trying to imagine how we will teach Jake to be strong and to share his disorder with others so they too can see how much love and happiness he has to give.

So here we are 5 years later. To all my  friends and family, I cannot say enough for all of the words of wisdom, encouragement, prayers and the help you've offered us. You all have given me the strength to go on and try to make a difference. That strength I now have within has inspired me toward continued research. While researching about Morquio Syndrome, I found the International Morquio Organization, (Carol Ann Foundation, President, Mary Smith;www.morquio.com). Its mission is dedicated to seeking out people who have Morquio syndrome (MPS IV-type A) in order to provide a mutual aid network; act as an advocate between patients, physicians and scientists; compile medical information and pursue funding for education, families and research. Dr. Shunji Tomatsu, who works at the Department of Pediatrics, Saint Louis University, School of Medicine has been researching a way to replace the missing enzyme that causes this skeletal, tissue and organ degeneration. He has been working on MPS IV-A for 17 years to help Morquio patients and to develop a new drug. Of the 11 MPS disorders, three (MPS I, MPS II, MPS VI) have just recently had a major break through in the clinical trials of enzyme replacement therapy!!! We have high hopes that Morquio syndrome (MPS IV-type A) will be the next break through. We think we are getting closer to have such an opportunity even on MPS IV A!!!

This brings us to the reason for my letter today,  I am planning on hosting future events on behalf of Morquio children and families. The events will not only benefit the research of MPS IV- A encouraging Dr. Tomatsu and his colleagues, but also give the chance for the families to come together to discuss Morquio syndrome with Dr. Tomatsu. Our goal is to generate funds by which Dr. Tomatsu can continue doing the much-needed research for Jake and the other children affected with this rare genetic disorder. We'll let you know about future events as the time nears. Please don't hesitate to call as I'd love to hear from you all.

As for my little Jake, he is a bundle of love, and a tower of strength. There is nothing he doesn't try and no task that goes undone. He is the light at the end of this tunnel, the reason for smiling each and everyday. He is truly my little angel.  I look forward to seeing you all soon.

All my love,

Renee 
rjl197@verizon.net


 

 

Just a note of thanks and acknowledgement to David Ayres and
the Online Youth Services for providing web hosting services
to the Jacob Randall Foundation.

Thank you all for your support of the website.
Webmaster: F. A. Stedman.
 



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