Josephine’s Story

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.

The beginnings…

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.

Ongoing…

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.

5 thoughts on “Josephine’s Story

  1. Hi Krysta and Sheldon,
    I was just reading our blog and looking at the pictures, and I have to tell you that your little girl is adorable! She looks like a little ray of sunshine. Thanks for sharing this blog, as we all want to know how she is doing and watch her progress.
    Liz

  2. Thanks, Liz! Please feel free to share this blog with anyone that might be interested. The more people, the better. We need to get more information out there about this disorder, so word of mouth is the best way we know.

  3. Dear Paolo,

    Thank you for contacting me regarding your daughter, Antonella. I can say that we are very happy with Dr. Bojko and hopefully she can help you. Her contact information is:

    Phone: 973-322-7580 (you will need to dial the country code for the U.S. first, but I don’t know what that is)
    Web Site: http://www.saintbarnabas.com/services/neuro/neurology/physician.html

    Wish I could offer more information, but I hope this helps a little more.

    Best,
    Krysta

  4. What an adorable, happy, sweet little cherub! Congratulations on sharing your story and spreading the word. Somewhere, someone thinks their all alone in this, and when they find your site they’ll know they’re not. :)

  5. I was Sheldon’s camp counselor for the past week, and every time Josephine came along to pick him up, she brightened up my day! This is a wonderful website, I’m glad to know that she’s progressing. May God bless her throughout her life Journey!

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