Little Giants Farm Run

 

Registration is open for 8th annual Little Giants Farm Run!

October 10, 2021 at 4 p.m. CST

Registration is open for our 8th annual Little Giants Farm Run. The farm run is a great way to get outside and spend a fun-filled day with family and friends of all ages. Proceeds go towards The Little Giants Foundation to raise money for SIOD awareness and help fund research. Schmike Immuno Osseous Dysplasia is a rare, genetic, life-limiting disease that causes great suffering to the children who have it. Symptoms include vascular and kidney disease, a weakened immune system, and short stature caused by problems with skeletal growth.

 

The run is a family-friendly event including a 5k run, one-mile walk and a kid’s dash. Not only is there the run, but there will also be face painting, games and a pumpkin festival. This year, the event will take place on Sunday, October 10th at 4 p.m. The event will be held at 13714 S 84th St, Papillion, NE, 68046. (Hybrid event with CDC guidelines followed)

This run is a great activity to bring families together for a good cause. Little Giants Foundation was created to become a voice for those with SIOD and other rare forms of dwarfism. Please click the link below to register for our run and help raise funds while having a great time!

https://ultrasignup.com/register.aspx?did=85110

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)

I get asked this quite a lot...

 I get asked this quite a lot.  

How have the hospitals changed since the pandemic?  Have they changed?  What is it like when you go there?

So- here is what I know for us in the Omaha, Nebraska area:

It has altered some depending on the severity and CDC guidelines throughout the pandemic, yet one of the biggest changes upon entering is that everyone gets screened and temperature checks and must wear a mask.  Not only are you screened upon entering- or even outside before parking, you are "screened" again at whatever department you go to.

Once inside and screened social distancing is still adhered to and we have been put into a room much quicker than usual.  (Many times we do get put into a room anyhow as Emily is immune suppressed) Also only one adult has been allowed most of the entire time with the pediatric patient and no siblings.  

Then procedures are pretty much the same, however; the staff all wear masks, eye shields and sometimes gloves and gowns depending on the situation.  There are some other changes as well, but if you are not someone who frequents a hospital you may not even notice that these things are out of the norm.

 I did take a few pics of our view as we entered one of the facilities we frequent.  At this hospital everyone parks and enters at the same location- doctors and all.  We are all in a line for screening and then you go to your designated appointments/areas where you are asked similar questions, but no temp check.

So there's the answer.  Some things are similar, the halls and waiting rooms are a bit more sparse than usual, yet some aspects are quite different and perhaps even better for all as part of the reason one goes to a clinic or hospital is because they are sick. 

This past Sunday Emily's visit to the ER made me think of another topic I will cover soon.

Transitions

 

We have an interesting series of challenges upon us.  It is new.  It is uncomfortable.  And it will happen anyway.  These obstacles are overall a good thing, however; they don't change the fact that they are unfamiliar territory for all of us as a family.  My hope is that by sharing our path we can help others along the way as we have always tried to do.

So what are these new transitions?  Transitions of care in so many areas of Emily's life due to the fact that she will be turning...18... this July!  Such a blessing.  We are beyond excited for her.  She will turn 18, which is 9 years past her life expectancy.  She will be a senior in high school.  She will also need to transition from pediatric to adult care depending on the doctors and hospitals over these next few years.  School and jobs will look different also.  Every stage has its place and many kids turning of age have their own journeys as they go off to their lives after high school.  For a special needs child with a rare genetic life limiting disease it looks even different.  One of the first transitions is starting very soon where we need to say so long to our pediatric home health nurse of the past almost 8 years and do our cares at the hospital where she can still stay with the pediatrics until she is older and we find a good adult care home health agency.  We are in no hurry for this transition, but it will come up first and quickly.

It is difficult to explain the bond one builds with our care team, especially when most have been in Emily's life anywhere from 5-14 years of her very extreme medical life.  We are excited to still be able to see our friends, like Sansa at Children's to help Emily through her pokies and labs every three weeks still.

Here are a few resources for other parents making similar transitions for their special needs child:

https://kidshealth.org/en/parents/adult-care.html 

From Nemours Children's hospital

file:///Users/admin/Downloads/AlongtheWay_YoungAdultFinal.pdf

Nebraska resources

http://www.vr.nebraska.gov/resources/pdfs/DDTransitionBooklet.pdf

                                We will share more as we go about this adventure of transitioning.-

COVID CRUSHERs

" Just give me the dang shot already!"

Emily has been saying this nearly every single day since the vaccines first rolled out and initially due to her age (17) the Pfizer vaccine was not being offered and then she was lower on the list after our current Governor of Nebraska initially denounced the disabled community.  

We are thankful that the Pfizer vaccine became offered in our area and that partly because of us advocate momma bears out there the Governor and DHHS overturned their initial announcement.  As the COVID vaccine opens up around the country for 16 year olds on up, we are also appreciative of those choosing to get vaccinated to help protect themselves and others.  Others like Emily with immune compromised systems.

Taylor-Jo has been put on two different research lists to hopefully make the cuts to test the vaccine for 8-12 year olds.  She was sad she wasn't able to get the vaccine for her sister and now is hoping she can get it.

I was vaccinated along with Emily from our old friends at Community Pharmacy (Thanks so much Kyle and Robin).  They have been working tirelessly at so many centers to protect and serve during this pandemic.  We love the name- COVID CRUSHERs and the T-shirts!  #gretnastrong

Joe got his first Pfizer vaccine yesterday and we are one step closer to cautiously, yet more safely getting back out there in the world.  Step by step.  Masks on, slow steps with advisement of Emily's doctors to get some much needed interaction.

We know all the things about why or why not to get the vaccine and we all have choices, yet Emily's plea is to consider kids like her and those unable to get the vaccine yet- do it for her, for them, for yourself.