Night at the Ballpark to Support Groundbreaking Medical Research

 

Come join us at a night at the ballpark honoring Emily and supporting the medical research she needs to prolong her life!

She is living with Schimke Immuno-Osseous Dysplasia (SIOD), and is only one of ten in the United States with the disease. Most with SIOD lose their battle from the symptoms of kidney failure, infection, or stroke before they’ve been accurately diagnosed. Emily has been living with SIOD for 17 years now, beating the odds that she’d live to only 9 years of age.

Support is needed for the research done to try new ground-breaking medicine that Emily and other SIOD children desperately need to prolong their lives. Contributing is just as easy as going out to a ballgame! 

Little Giants Foundation will be the organization of the night on June 3rd, 2021 at Werner Park. Tickets have been sold to benefit SIOD research, as well as the Little Giants Foundation.

Gretna Chamber of Commerce and some Centersphere members are also being represented that night, so it should be a super event of networking as well.

We will see you at the ballpark!  Go Chasers!

Taylor-Jo's 10th Birthday Wish

 Taylor-Jo’s birthday wish this year is for everyone to donate at least 10 dollars to Little Giants Foundation- her age this year- or to click on the Pampered Chef link and support LGF that way. (links at the bottom)

Both of our daughters had a 25% chance to

develop SIOD:

* Joe could have passed the gene & I did not

*I could have passed the gene and Joe could not have.

*Neither of us could have passed the gene.

* YET we both passed BOTH mutated genes...to only one

of our daughters- Emily.

*The sibling (Taylor-Jo ) had a

25% chance of being affected with the gene

*Taylor-Jo was not affected although she did have a 2/3

chance of being a carrier and is not.

Taylor-Jo is however a great ambassador for

her older sister and other SIOD children!

https://thelittlegiantsfoundation.org/donate-index-impact

If you know someone that loves Pampered Chef please send them this link, they can click on Taylor Jo's Birthday Wish Fundraiser and it will take you to order link. Let's help Taylor Jo raise as much money as possible.

https://linktr.ee/cindybrugmann

Kidney Birthday!

Tomorrow, May 6th is Emily and Joe's 13th kidney birthday! 13 years ago Joe selflessly donated one of his kidneys to Emily when she was just 4 years old and Thursday we are celebrating life and kindness. Don't forget how important organ donation is- it can save lives so make sure you are registered to be an organ donor!

GeneReviews states, "All affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease (ESRD). All tested individuals have T-cell deficiency and associated risk for opportunistic infection, a common cause of death."

An excerpt from my journal:

"Emily’s kidneys were failing! She was first diagnosed with

Nephrotic Syndrome/Focal Segmental Glomerulosclerosis (#FSGS) in October of 2007 at age four and after exhausting every drug regimen to treat the disease she was put on peritoneal dialysis in February of 2008. By April her kidneys were completely shot and she was in need of a #transplant. Her daddy, Jeek Masters gave her this precious gift of life on May 6, 2008. What should have been a fairly smooth transplant turned out to be a nightmare and ultimately led us to our #SIOD diagnosis."

Background

Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is an autosomal recessive disease; its prominent features are facial dysmorphism, hyperpigmented macules,focal segmental glomerulosclerosis (FSGS), spondyloepi-physeal dysplasia, and T-cell immunodeficiency [1–3]. Additional features include hypothyroidism, abnormal dentition, bone marrow failure, thin hair, corneal opacities, arteriosclerosis, cerebral ischemia, and migraine-like head-aches [2–5].

The renal disease begins as proteinuria, progresses to steroid-resistant nephropathy, and ultimately advancesto end-stage renal disease [4, 6]. FSGS is the predomin-ant renal pathology and is refractory to treatment with glucocorticoids, cyclosporine A, and cyclophosphamide [4, 6]. Suggesting a cell autonomous mechanism for the renal disease, renal transplantation is efficacious, and thedisease does not recur in the graft [2, 4, 5]. Morimoto et al. Orphanet Journal of Rare Diseases (2016)