Caleb Waddell

As mentioned before, I'm running as part of a team of heroes.  The young man that we're running to honor is Caleb Waddell.  I had posted a link to his caringbridge.com website but wanted to talk a bit more about him and his disease.
Caleb was diagnosed with MPS I Hurler.  Apparently, about 1 in 25,000 kids will be born this year with MPS I, a disease that, in most forms, is passed down in recessive genes from both parents.  Out of the various types of MPS, I Hurler is the most severe.  It's the one that will cause the most issues and one that, at this point, gives a short life span.  Some of the things that Caleb endures include stiffened joints, skeletal abnormalities, spinal cord compression, cardiac disease, corneal clouding, and more.
So, what is MPS?  MPS stands for mucopolysaccharidosis.  As mentioned, it's a genetic disease that is passed from both parents.  There's a defect in the gene that makes a certain enzyme, alpha-L-iduronidase.  This enzyme is used to breakdown long sugar molecule chains that are produced in cells.  If this enzyme isn't there to break down these "GAG's" (glycosaminoglycans), they build up in the body - collecting in joints and around organs.  The glycosaminoglycans are used by the body to make joints work smoothly, building bones and cartilage and other tissues.  Like so many things, having too much is a bad thing and since kids with MPS I don't have the enzyme, or just a very small amount, it stays in their bodies, building up and interfering with normal cell processes.
So, what does this mean for Caleb?   Obviously, the long-term prognosis isn't good.  But, he's such a great kid with a kind heart and warm personality.  Just taking a quick look at his Caring Bridge page, you see a young man with a great smile who likes to laugh.  But, what else does it mean?  Well, it means a lot of doctor appointments.  Here's a sample of his yearly or six-month checkups plus some extra eye exams:

May 10, 2012
9:00 a.m.-2:00 p.m. St. Jude- Psych Neuro Testing

May 21, 2012
3:30 p.m.-4:00 p.m. St. Jude- Eye Clinic (post surgery checkup)

June 5, 2012
8:30 a.m.-11:30 a.m. U.T.- Dr. Jewel Ward, Geneticist

June 20, 2012
8:30 a.m.-8:45 a.m. St. Jude- XR Panorex9:00 a.m.-10:30 a.m. Psychology Consult11:00 a.m.-11:30 a.m. Dental Clinic Consult1:45 p.m.-2:45 p.m. Audiology

June 21, 2012
7:00 a.m.-7:30 a.m. St. Jude- A/T (Bloodwork)7:45 a.m.-8:00 a.m. CT Bone Density8:30 a.m.-9:00 a.m. Pulmonary Function Study9:00 a.m.- 10:00 a.m. Echo/EKG10:15 a.m.-10:30 a.m. BMT Patient Screening10:30 a.m.-11:30 a.m. HSCT Annual Visit11:30 a.m.-11:45 a.m. ENT Visit12:30 p.m.-1:00 p.m. Physical Therapy Consult1:00 p.m.-1:30 p.m. Occupational Therapy Consult2:00 p.m.-2:30 p.m. Neurology2:45 p.m.-4:00 p.m. Endocrine Clinic

June 22, 2012
7:00 a.m. St. Jude- Sedation for MRI8:15 a.m.-9:30 a.m. MRI Spine w/ Sedation9:30 a.m.-10:30 a.m. Recovery12:15 p.m.- 12:30 p.m. Photography1:00 p.m.- 1:30 p.m. Social Work Consult1:30 p.m.- 2:00 p.m. Nutrition Consult2:00 p.m.- 2:45 p.m. HSCT Annual Follow-up Visit

June 26, 2012
7:00 a.m.-7:30 a.m. St. Jude- A/T 9:00 a.m.- 9:30 a.m. BMT Brief Visit9:30 a.m.-10:15 a.m. Sedation10:15 a.m.- 11:30 a.m. MRI Avascular Necrosis11:30 a.m.- 12:30 p.m. Recovery

July 5, 2012
10:10 a.m.- 12:00 p.m. Dr. Warner- Campbell’s Clinic, Germantown1:30 p.m.- until forever Dr. Muhlbauer- Semmes Murphy

July 13, 2012
7:30 a.m.-7:45 a.m. St. Jude- A/T7:45 a.m.-9:00 a.m. Echo9:00 a.m.-10:15 a.m. Eye Clinic Followup10:30 a.m.-11:00 a.m. Cardiology

How many of us would want to go through that?  How many of us would give up?  Caleb's a special boy, but we can't forget that he's getting most of his treatment at a special place.  St. Jude runs on donations, as do I!  Please give what you can - every dollar counts.  You can click on the link on the right hand side of the page, or click here http://heroes.stjude.org/scottsmith to help me reach my $2500.00 goal.

Thanks,

Scott


PS - I got most of the information about MPS from www.mps1disease.com.  Hopefully I got everything right...SS