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Miss Sian - Dancing through the shadows into the light

The Story

Sian is a 12 year old, aspiring dancer from Topeka, KS. Her dedication, hard work, and determination has provided her a wonderful opportunity to participate in Motion 41's Summer Intensive Program in Omaha, NE. This opportunity would allow her to dance with older dancers from all over the US and learn from some amazing instructors from all over the world.  Dancers strive for acceptance to a summer intensive program! Her total cost is $1,995.  

Donate Here: 

https://www.youcaring.com/misssian-1068795/donate/general

Tuition $1,000. Room/meals $995. Most summer intensives cost $4000 for tuition/room/meals!  She has a scholarship for $200, leaving a tuition balance of $800 due before May 18. I am saving money from each paycheck for the $995 room/board/meals. It will not be easy as I am a single parent. Si is working hard to earn money (baking and selling cookies, breads, pies; and doing chores). I'm afraid this may not be enough.  Money raised will go to tuition, remaining room/meals, and incidentals. Let me share with you the story of Sian, and how you can be a part of her journey.  
Dance - She was accepted into Ballet Midwest's Junior Company at the age of 10 and continues to be a member. She has performed in the Nutcracker as a solder, cadet and this year, en pointe, as a polichinette. She has performed roles in Swan Lake, Sleeping Beauty, and currently, Romeo and Juliet. When she is not in school, she is at the studio. Sometimes 7 days a week for 4 or more hours a day.  
Why is this important to her? – Dancing is her world!  Dance allows her to feel and be normal. There are no boundaries, no limitations. She uses dance as a platform to talk about EPP, the FDA, and politics! She hides in the shadows every day of her life. Omaha is important to her because she can be normal, advance her skills, and dance out of the shadows into the light on a national level.    
Why is this important to me?  Si has every right to curl up in a ball and throw in the towel. She has every right to question why God has chosen her to carry these burdens. She has every right to be angry, bitter, jealous and envious. Instead, she pushes the raging inferno and injustice deep inside. She wipes away the tears, laces up the pointes, puts on a smile and performs. Everyone else sees a graceful, beautiful dancer with so much emotion and talent that will take her places. For her it's a moment that she is normal. Another wall broken  down. Another chance to bring joy/happiness/inform people.  For me, it's a moment to see a  strong, determined young woman, who is fighting through the pain to change the world. I see perfection and confirmation as why God has chosen her. I see the daily pain that she is desperately trying to hide. I see the tears quickly wiped away so as others do not see. I hear the silent “whys” in her eyes, as she looks at me in physical or emotional pain from the name callers.  Omaha is important to me, because it's her dream!
Medical - Si had all the odds stacked against her from birth. She was born 4 weeks premature, with a bicuspid aortic valve, an aortic stenosis, and a trivial aortic insufficiency. Most recently, she was diagnosed with NSHL (Neurosensori hearing loss) requiring a hearing aid and  POTS (Postural Orthostatic Tachycardia Syndrome). All those conditions are nothing compared to the diagnosis that stopped us in our tracks -EPP.  Her lip in the picture is from an EPP attack. Yet, she smiles through the torture.  
Erythropoietic protoporphyria is a rare genetic blood disorder. Sian began to show symptoms of EPP when at age 4. These debilitating attacks are caused by exposure to any sunlight.  Imagine being four, riding your bike in shorts, flip-flops, and not a care in the world. Abruptly, having to stay inside; wear long pants, long sleeves, hats, gloves, and sunglasses (year round). Not being able to swim, sled or play with friends outside! To be in constant pain from the light. Your skin and deep tissue burning like lava, stinging like a 1000 bees!  There are no medications, pain relievers or treatments available to prevent, stop or assist. She sits in cold baths for hours, cold socks on her hands, fans blowing. Her attacks begin within 72 hours of exposure and can last at least 5 days. She has scars and pitting on her face and fingers. She endures rigorous blood tests every 6 weeks to check her CBCs, iron, TIBC, ferratin, hemoglobin, Vit D, iron and protoporphyrin levels. She endures feraheme infusions every 4 months at the Cancer Center due to EPP side effects. She is constantly being seen or in contact with her medical specialists at Children's Mercy (Hepatologist, Cardiologist, Otolaryngologist, Audiologist, and Dermatologist), specialists at the Cancer Center (Hematologist);  Dr. Karl Anderson, specialist at UTMB; (Gastroenterologist);   Dr. Joseph Bloomer, specialist at UAB (Gastroenterologist) and the APF.  
APF (American Porphryia Foundation) According to the APF, "protoporphyrin accumulates first in the bone marrow. Then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It causes very painful photosensitivity and can greatly impair quality of life.  Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight, including sunlight that passes through window glass. This can cause mild to severe burning pain on sun-exposed areas of the skin. Skin manifestations generally begin early childhood and are more severe in the summer. There is an increased risk of gallstones, which contain protoporphyrin. Excess protoporphyrin can also cause liver damage.  Less than 5% of EPP patients’ severe liver damage and a condition caused protoporphyric hepatopathy that sometimes requires liver transplantation."        
Politics - There is no cure for this condition. The one medication that has proven to work is not available in the US! Clinuvel states on their website, "The FDA has recognised that afamelanotide meets an unmet clinical need and treats a severe genetic condition for patients who are life-long deprived of light. SCENESSE® was granted orphan drug designation by the FDA in 2008 for the treatment of EPP patients and Fast Track Designation (FTD) in 2016, allowing for a ‘rolling review’ of the NDA." Yet, is still unavailable for people who continue to hide from the sun. Sian is one of many EPP sufferers that have provided letters and pictures to the FDA in an attempt to show them what this condition is capable of doing and the impact it has on living a normal life.      
Thank you for taking time to read! Even if you cannot make a donation, just the fact that we reached one more person and brought awareness to EPP, the APF, and Scenesse is rewarding.

News stories focusing on Sian and EPP  
http://www.wibw.com/home/headlines/Family-shines-light-on-rare-sun-disorder-316068261.html
html http://ksnt.com/2015/07/16/rare-disorder-keeps-topeka-girl-hiding-from-the-sun/ 
http://ksnt.com/2016/07/13/topeka-girl-gets-new-drug-for-her-allergies-to-the-sun/ 

Articles/websites focusing on EPP  
http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/EPP-and-XLP 
https://rarediseases.org/rare-diseases/erythropoietic-protoporphyria/
https://rarediseases.info.nih.gov/diseases/4527/erythropoietic-protoporphyria 
https://emedicine.medscape.com/article/1104061-overview 

Comments

  1. Sian is an amazing little girl, and you are a blessing of a mother to her. Keep up the good work, Kim.

    ReplyDelete

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