Josephine and Tetrasomy 8p Mosaicism
In July 2009, our youngest child, Josephine, was diagnosed with a rare genetic disorder called Tetrasomy 8p Mosaicism. To our knowledge, there have been approximately 17 recorded cases of this genetic disorder. We know of 2 additional unreported cases and our little princess brings the magical number to 20!
This site, Normal for Josephine
, has been set up to create awareness about this disorder and to track Josephine’s progress. At her early age, we don’t yet know what this disorder means for her future…and so, that is why we take it one day at a time. To us and others around her, she is developing at a different pace…but to Josephine, it’s all normal.
For several months, we noticed a developmental delay with Josephine’s fine and gross-motor skills: sitting up, rolling, crawling, and babbling, to name a few. Our pediatrician recommended that we consult a geneticist to determine a possible cause for the delays. Soon after, we received the chromosomal analysis results from the geneticist about the disorder.
Josephine is starting early intervention therapy (at our home), which will involve physical therapy, occupational therapy, speech therapy and developmental intervention three days a week to improve her muscle tone and motor skills. We recommend checking into your local area to see if these services are provided.
As we learn more about this disorder, we will provide it, as well as follow Josephine to see how she develops.
If someone you know has been diagnosed with Tetrasomy 8p Mosaicism and you’re looking for support, or, if you would like to learn more about Josephine, please feel encouraged to email us.