Rare Disease Day

💙💜💚Today is the day! Time to share and show our support for Rare Disease💚💜💙

Here are some quick facts:

🌻50% of people affected by Rare Disease are children?
🌻There are over 7,000 Rare Diseases Identified
🌻ONLY 5% of Rare Diseases have an FDA approved drug
🌻Rare Disease affects more than 350 MILLION people worldwide!

🎗How did I find out about Rare Disease Day? Well my husband and I’s daughter Emma Louise passed away shortly after birth on 07/05/18. It was found through her autopsy report that she passed away ultimately from Pulmonary Hypoplasia. This was secondary to another finding. The final diagnosis for Emma is Pena Shokeir Arthrogryposis Multiplex Congenita.

Here are some quick facts about PSS:

✅This disease is so rare it’s found in less than 1 in 1,000,000 births.
✅About 30% of babies with PSS are stillborn.
✅The majority of those live-born die of the complications of pulmonary hypoplasia.
✅The clinical phenotype initially included camptodactyly; multiple contractures; facial anomalies consisting of a high nasal bridge, micrognathia, and a cleft palate; and pulmonary hypoplasia
✅PSS is a lot of times diagnosed as Trisomy 18 because both diseases have symptoms that mimic each other.

For more information on Rare Disease Day please click the links below:


Or https://globalgenes.org/ and make sure you check out Global Genes on Facebook!

💜So my why for Rare Disease Day is my Emma. Without her I would not know about Rare Disease Day and I sure would have never learned about Pena Shokeir Syndrome. While we are devastated by her passing, we want to keep her memory alive by spreading awareness for PSS and all the other Rare Diseases there are. Thank you for sharing and spreading more awareness!💜

#RareDiseaseDay #RareDiseaseDayAwareness #PenaShokierSyndrome #PSSAwareness #TheMoreYouKnow #MyWhy #EmmaLouise #EmmyLouStrong #WearThatYouCare #OurBabyGirl #PSSAMC #PulmonaryHypoplasia

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