Guest guest Posted February 19, 2012 Report Share Posted February 19, 2012 Thank you, Darlene, for your kind note. But as far as the course of intervention and life plans for our daughter Sophia (15) is concerned, nothing will really change. Her initial dx were Dyspraxia (motor planning disorder) and PDD-NOS (milder version of autism spectrum disorder), and we have done all sorts of therapies since she was 3. Now she is a healthy, happy, well-balanced young lady enjoying her high school life. What triggered my inquiry into genetics was that her height had stopped at 4'8 " at age 13. Waited a few more seasons to see how that goes as we consulted with an endocrinologist. Then her body started looking curvier and thicker, in spite of her healthful diet and high physical activity level (basketball, swimming, martial arts, rollerblading, horseback riding, dancing). That made me think of Downs. (She has no other physical indications of DS.) It took over a year to get three genetic testing done. The first Karyotype test showed 2 cells with trisomy 21 out of 15 cells. I requested CGH to find out more. The result was " no cell abnormality " . After months of geneticist and insurance company refusing to go further, the third testing (skin biopsy) was conducted. That resulted in 6 cells out of 20 showed trisomy 21. Thus, finally the official dx of MDS. I felt very relieved to know the fact so that we can prepare for the future more accurately. While Sophia was in preschool, there was very little data on girls with autism, so I used a lot of info that was targeted to the children with Downs for the developmental, educational, and communication challenges. They were extremely helpful :-) I relied on them solely until the autism researches caught up years later. Here in Washington State, there are over 16000 " eligible " children with developmental disabilities who receive no services from the state due to the budget cut. Sophia has been on the " wait list " for over 12 years with no services. And this new additional dx is not going to help her status. So we'll continue to put our resources into her growth and development on our own. We have not disclosed this MDS dx to our daughter yet, and are not sure how to go about...... Thank you for taking the time to read this :-) Warmly, -Kai Re: A new member Hi Kai, My daughter has MDS as well, she is still in the 6th grade (because I held her back a year hoping speech would come but it did not) so she is a little immature, but no more than the rest of the kids she is in school with. I am sorry it took you so long to find out about your daughters MDS - we did not find out until she was 6 months old but that is nothing compared to 15 years. What is your daughter's name? Tell us more about her or she can come online and tell us about herself. Darlene > Dear MDS Community, > Our 15-year-old daughter just got diagnosed with MDS after 3 genetic > testing in Seattle. > Would love to get connected with parents of teens/young adults. > > ~Kai Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 19, 2012 Report Share Posted February 19, 2012 Kia - We have told from the beginning - not necessarily everyone else but I am going to her school and do a presentation on the first International World's Down Syndrome Day - 3/21/12. The children in her class have been very accepting of her (and of her limitations) and I wanted to explain to them what makes different and how much is the same. They have been there from the beginning cheering her on. There is not much information on MDS and because it varies so much from person to person, even if you had a Dx early it wouldn't have mattered that much, but I like it here and IMDSA gives me a place to belong and vent and ask questions... Darlene > ** > > > Thank you, Darlene, for your kind note. But as far as the course of > intervention and life plans for our daughter Sophia (15) is concerned, > nothing will really change. > Her initial dx were Dyspraxia (motor planning disorder) and PDD-NOS (milder > version of autism spectrum disorder), and we have done all sorts of > therapies since she was 3. Now she is a healthy, happy, well-balanced young > lady enjoying her high school life. > > What triggered my inquiry into genetics was that her height had stopped at > 4'8 " at age 13. Waited a few more seasons to see how that goes as we > consulted with an endocrinologist. Then her body started looking curvier > and > thicker, in spite of her healthful diet and high physical activity level > (basketball, swimming, martial arts, rollerblading, horseback riding, > dancing). That made me think of Downs. (She has no other physical > indications of DS.) > > It took over a year to get three genetic testing done. The first Karyotype > test showed 2 cells with trisomy 21 out of 15 cells. I requested CGH to > find out more. The result was " no cell abnormality " . After months of > geneticist and insurance company refusing to go further, the third testing > (skin biopsy) was conducted. That resulted in 6 cells out of 20 showed > trisomy 21. Thus, finally the official dx of MDS. I felt very relieved to > know the fact so that we can prepare for the future more accurately. > > While Sophia was in preschool, there was very little data on girls with > autism, so I used a lot of info that was targeted to the children with > Downs > for the developmental, educational, and communication challenges. They were > extremely helpful :-) I relied on them solely until the autism researches > caught up years later. > > Here in Washington State, there are over 16000 " eligible " children with > developmental disabilities who receive no services from the state due to > the > budget cut. Sophia has been on the " wait list " for over 12 years with no > services. And this new additional dx is not going to help her status. So > we'll continue to put our resources into her growth and development on our > own. > > We have not disclosed this MDS dx to our daughter yet, and are not sure how > to go about...... > > Thank you for taking the time to read this :-) > > Warmly, > -Kai > > Re: A new member > > Hi Kai, > > My daughter has MDS as well, she is still in the 6th grade (because > I > held her back a year hoping speech would come but it did not) so she is a > little immature, but no more than the rest of the kids she is in school > with. I am sorry it took you so long to find out about your daughters MDS > - we did not find out until she was 6 months old but that is nothing > compared to 15 years. What is your daughter's name? Tell us more about her > or she can come online and tell us about herself. > > Darlene > > > > > Dear MDS Community, > > Our 15-year-old daughter just got diagnosed with MDS after 3 genetic > > testing in Seattle. > > Would love to get connected with parents of teens/young adults. > > > > ~Kai > > > -- “Knowing is not enough, we must apply. Willing is not enough, we must do.” Johann Wolfgang von Goethe Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 20, 2012 Report Share Posted February 20, 2012 I have an 18 year old daughter with MDS. She graduated from high school last June and is in her second semester of college. I'd be willing to share our story and experiences with you. If you like, you can email me privately. We live in New York, on Long Island. Where are you from? ann'' Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 20, 2012 Report Share Posted February 20, 2012 We live in Seattle, WA. Sophia is a high school freshman :-) I would love to get connected with parents with girls in upper teens and young adulthood, since the girls in those age groups have unique sets of concerns, challenges, and blessings ;-) I'll email you offline, ann. Thank you, ~Kai From: MosaicDS [mailto:MosaicDS ] On Behalf Of map4784@... Sent: Monday, February 20, 2012 7:16 AM To: MosaicDS Subject: Re: A new member I have an 18 year old daughter with MDS. She graduated from high school last June and is in her second semester of college. I'd be willing to share our story and experiences with you. If you like, you can email me privately. We live in New York, on Long Island. Where are you from? ann'' Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 21, 2012 Report Share Posted February 21, 2012 Hi Kai, I also have a daughter who is a freshman. Mahrya is 15 and we live in WI. I have a son who is in college in WA so it is possible at some point we might get out that way. Feel free to e-mail me as well! Luanne Subject: RE: A new member To: MosaicDS Date: Monday, February 20, 2012, 4:22 PM  We live in Seattle, WA. Sophia is a high school freshman :-) I would love to get connected with parents with girls in upper teens and young adulthood, since the girls in those age groups have unique sets of concerns, challenges, and blessings ;-) I'll email you offline, ann. Thank you, ~Kai From: MosaicDS [mailto:MosaicDS ] On Behalf Of map4784@... Sent: Monday, February 20, 2012 7:16 AM To: MosaicDS Subject: Re: A new member I have an 18 year old daughter with MDS. She graduated from high school last June and is in her second semester of college. I'd be willing to share our story and experiences with you. If you like, you can email me privately. We live in New York, on Long Island. Where are you from? ann'' Quote Link to comment Share on other sites More sharing options...
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