Update on Thea

Hi

I wanted to create a video of photos and little video clips of Thea and where she is at right now in hopes that you get a sense of how she has developed over the past 4 years.  Hope you enjoy:)

7 thoughts on “Update on Thea

  1. Thank you so much for sharing Thea’s story! My little boy was just diagnosed with Mosiac Down Syndrome at 16 months. It is great to finally have a label to why he has the delays he has, but it is hard to find many people who know what that is or have any personal experience. Thank you!
    Caytie from Utah, USA

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    1. Hi Caytie,

      I am glad you found my blog and were able to get something from it. I often wonder what it would be like to not have found out that Thea has MDS, if it would be easier. But, at the end of the day, there are so many more positives to knowing that she does have MDS. I am glad your son got diagnosed. It seems like it is a lot harder for people in the USA to get this testing done. If you ever have any questions, please feel free to connect with me. I know what it was like when we found out and there was no one to talk to about it!

      Andrea

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  2. Thea is beautiful! Without someone picking up on the prenatal testing, would you have ever known she had MDS?

    I have a 15 yr. old daughter who I strongly believe has MDS but her chromosomal blood test came back normal. I never insisted on a skin test, but maybe should. MDS is so rare and all over the map that I believe so many cases go undiagnosed. She’s an absolute joy and one of my 3 favorite children in the world. 🙂

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    1. Hi Jessica,

      Thanks for your message. I am not sure if it would have been picked up in testing once she was born or not. But, if there were never any tests done, then no, I don’t think we would have known anything was different until now. Even now, the only thing that we have noticed different for Thea is that she is delayed in her speech and language. But, if we didn’t know she had MDS, then that still would not have given us any indication that she did have MDS. MDS does seem to be hard to diagnose because if it is not identified when he/she is born, and they do not have any physical features of DS, then doctors may just assume that the child has a learning disability and not look into their genetics. I’ve learned that I really have to be an advocate for my daughter to make sure that she gets what she needs and having a confirmed diagnosis helps with that. So, if you feel that your daughter might have MDS, I would suggest trying all avenues to test her. Another benefit of having Thea diagnosed is that we are able to understand why she is having learning issues, and we can get her the help and support that she will need in order to succeed in school.

      What makes you think that your daughter has MDS?

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  3. Hi,

    My daughter was diagnosed at birth with MDS. We did the karyotyping and the result came back with 11% affected cells. She is 10 months old now and can able to sit and crawl. She is our precious baby and we love her so much.
    Thank you for sharing your story and hope you update more 🙂

    Riza from Abu Dhabi UAE

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  4. Hi! We strongly suspect our 10 year old has Mosaic Down Syndrome because of her medical history from birth til the present, and numerous developmental delays. Where does one find testing in UAE? Do we need a pediatric physician to rerfer us to a hospital for the chromosomal microarray blood test, or are there genetic counselors and specialists who can do the test directly? We’d appreciate any advice you may have!

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    1. Hi Carol,

      I am base in UAE also and my daughter was diagnosed with mDs. They took blood sample from her when she was 3 days old and it took 1 month for us to get the result. When they gave me the report, I don’t know what it is read, they just told us that she has mDs. I’ve look for a geneticist and she read to me the result. She has mDs and 11% of her cells are affected with extra chromosomes. You can go to RafikIV and they also do karyotyping and fish test.

      Thanks!

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