Guest guest Posted February 23, 2006 Report Share Posted February 23, 2006 Hi Right now there is one test (genetic) for RSS called UPD7 (I could have the initials wrong, don't quote me; it's early in the morning here LOL). However, only about 10% of RSS kids will come back with a genetic showing of difficulties with this chromosome. That leaves 90% of our kids with " normal " genetic results. My son was " normal " as well, I just sighed relief that there was NOTHING else besides the lack of growth/RSS. I did have Adam checked by Dr. H. and she confirmed the RSS as did my doctors here in Toronto. By all means make sure your doctor continues to treat her for RSS since the genetics tests don't necessarily confirm it! Debby B. Genetic testing back Well... we received 's results from the genetic testing today.. and they say she's normal and they don't know why she's so small. Well.. I have gathered that there isn't a tell tell test for RSS.. and the normal results is 'normal'. Confused? Anyway.. I'm relieved with the normal results.. put my mind to ease over other issues. Well.. her geneticist still believes she has RSS... and wishes to continue to see her. He's a great doc and I " m thankful that he listens to us. Pickett Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 23, 2006 Report Share Posted February 23, 2006 , Many docs in the pediatric genetic field are going by the last hullabaloo about " the definate test that indicates RSS. " In reality, only 90% of our RSS kids are diagnosed with maternal disomy (SP?) on Chromosome 7. The rest of us are diagnosed by the phenotype, or in layman's term, what they look like. The most common phenotype that diagnosis a genetic sydrome is Down's Syndrome, or Trisomme 21. A trained Geneticist who has seen a variety of RSS children will be able to make the call in addition to the failure to thrive issues, gut problems and possibly asymmetry in the body. For our family it took two genetic docs to figure out Connor. The first was leaning in that direction, but the second one took one look at Connor and went, " Oh, yeah, I saw this in Boston several times. " Also, for some RSS and SGA kids, a diagnosis can't happen until certain milestones in development don't happen in the first two years of life. Dr. H. initially called Connor SGA. We had no problem with that. However, as he didn't grow well the following year, and developed some cafe aulait spots, and his asymmetry became apparent in his head, then we got the " RSS " designation the following year at convention. Unfortunately, the first two years of this syndrome are challenging, but you are in the perfect place for finding out the info you need to help your precious child thrive. Don't be disappointed. We are all in the same boat with you and know how to paddle and navigate these waters. Hope this helped. Mom to Graham 9; Cameron 6; Connor 3 RSS, g-tube, Nutropin AQ .5; > > Well... we received 's results from the genetic testing today.. and > they say she's normal and they don't know why she's so small. Well.. I > have gathered that there isn't a tell tell test for RSS.. and the normal > results is 'normal'. Confused? Anyway.. I'm relieved with the normal > results.. put my mind to ease over other issues. > > Well.. her geneticist still believes she has RSS... and wishes to > continue to see her. He's a great doc and I " m thankful that he listens > to us. > > Pickett > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 23, 2006 Report Share Posted February 23, 2006 Hi You got your stats backwards (LOL) 90% of our kids are NOT diagnosed genetically; only roughly 10% are! It's Ok, you probably wrote as early as I did this morning when I couldn't think of the name of the chromosome! Debby Re: Genetic testing back , Many docs in the pediatric genetic field are going by the last hullabaloo about " the definate test that indicates RSS. " In reality, only 90% of our RSS kids are diagnosed with maternal disomy (SP?) on Chromosome 7. The rest of us are diagnosed by the phenotype, or in layman's term, what they look like. The most common phenotype that diagnosis a genetic sydrome is Down's Syndrome, or Trisomme 21. A trained Geneticist who has seen a variety of RSS children will be able to make the call in addition to the failure to thrive issues, gut problems and possibly asymmetry in the body. For our family it took two genetic docs to figure out Connor. The first was leaning in that direction, but the second one took one look at Connor and went, " Oh, yeah, I saw this in Boston several times. " Also, for some RSS and SGA kids, a diagnosis can't happen until certain milestones in development don't happen in the first two years of life. Dr. H. initially called Connor SGA. We had no problem with that. However, as he didn't grow well the following year, and developed some cafe aulait spots, and his asymmetry became apparent in his head, then we got the " RSS " designation the following year at convention. Unfortunately, the first two years of this syndrome are challenging, but you are in the perfect place for finding out the info you need to help your precious child thrive. Don't be disappointed. We are all in the same boat with you and know how to paddle and navigate these waters. Hope this helped. Mom to Graham 9; Cameron 6; Connor 3 RSS, g-tube, Nutropin AQ .5; > > Well... we received 's results from the genetic testing today.. and > they say she's normal and they don't know why she's so small. Well.. I > have gathered that there isn't a tell tell test for RSS.. and the normal > results is 'normal'. Confused? Anyway.. I'm relieved with the normal > results.. put my mind to ease over other issues. > > Well.. her geneticist still believes she has RSS... and wishes to > continue to see her. He's a great doc and I " m thankful that he listens > to us. > > Pickett > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 23, 2006 Report Share Posted February 23, 2006 Debby, All I can say is that between the phone, the bus, trying to cancel two magazien subscriptions that I go bamboozled into over the net and just maintaining life, I should not respond to anything on the list serve until I've had the second pot of coffee. (Sheesh) Thanks for the clarification. > > > > Well... we received 's results from the genetic testing > today.. and > > they say she's normal and they don't know why she's so small. > Well.. I > > have gathered that there isn't a tell tell test for RSS.. and the > normal > > results is 'normal'. Confused? Anyway.. I'm relieved with the > normal > > results.. put my mind to ease over other issues. > > > > Well.. her geneticist still believes she has RSS... and wishes to > > continue to see her. He's a great doc and I " m thankful that he > listens > > to us. > > > > Pickett > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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