The story of Maria
Hello! My name is Maria and I would like to share my daughter’s story. Her name is Olivia; she’s 8 1/2 months old and she was diagnosed with a rare disease. On December 23, 2019 at Texas children hospital we got a diagnosis of a syndrome that I have never in my life heard before. The name is mirage syndrome; apparently is a syndrome that occurs in 1 out of 1M babies. The name mirage was giving as an abbreviation of (Myelodysplasia, infections, restricted growth, adrenal insufficiency, genital phenotype and enteropathy. A mutation that occurs in her genetic material called SAMD9. This mutation can be transfer from someone that is carrier or it could be a spontaneous mutation like it happened to us since neither my husband or myself carry the gene.
Since it was discovered in 2016; there has been not a lot of research about the syndrome. All we know is that if affects every child differently. For example; Olivia suffers from Myelodysplasia where she is lacking the platelets precursors so she doesnt produce platelets. She also suffers from restricted growth and enteropathy. We have been blessed until now that so far she has had a total of 2 infections only caught on time. She is a very happy, interactive baby that loves to smile to everyone she meets. She is strong feisty girl that pushes through when they are bumps in the road.
I wanted to share my story because I have found that many families with this disease are fighting for their kids as much as I do and since there is really not that much research about this syndrome I feel like we need to have a voice for people to educate themselves about the syndrome and maybe possible acquired a protocol of to what has work for each kid. Feel free to contact me at any time if you think mirage should be research more in depth!