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This is a topic Starter.
What have your experiences with Skeletal Dysplasia been?
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Joined: 12/18/2007
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My name is Sissy and I have a son that was born November 10, 2006 and has been diagnosed with Chondrodysplaysia Puntata. At first they told us he had the Rhizomelic form and would not live to be 1 year! At this time we have been told he does not have the Rhizomelic form....So needless to say we are still up in the air...We still have our precious little one, but are trying to find a way to get more information on this type of dysplaysia and get the word out to other parents! Any help would be much appreciated! What a wonderful web site. Thank you, Sissy
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Joined: 1/10/2008
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Location: Nanuet, NY
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My name is Michelle. Our son, Austin, was diagnosed with skeletal dysplasia during my 20th week of pregnancy. At that time, his heart was taking up more than 3/4 of his chest cavity and he was at 2% growth for his gestational age. As a result of the SD, as well as fetal hydrops (cause unknown) he was delivered stillborn at 22 1/2 weeks on August 17, 2005. His remains were transported to Cedar Sinai in California for autopsy (and ultimately returned to us for burial). We found out just days before his due date (Dec 17, 2005) that the form of SD he had was Hallerman-Streiff (not sure of spelling) and that it was non-genetic. He was the unlucky recipient of a spontaneous mutation. It took my husband and I many months to recover (do you ever really?). We joined a support group, which helped to a point, but all of other couples had common problems and knew their diagnosis right away. The 4 month wait was almost unbearable.
But once we knew Austin's SD was not genetic, many tests and one more extremely stressful pregnancy later and we just celebrated our daughter's first birthday. I fully believe in angels and know that Austin is looking after his baby sister.
I have since come into contact with another couple who's stillborn son had a rare form of SD. It helps now, even 2 1/2 years later, to know that we are not alone.
I thank the founders for this website.
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Rank: Newbie
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Joined: 3/24/2008
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Location: Iowa
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My name is Katie Tibbles from Iowa. I can relate with Michelle's situation of having to wait for a diagnosis. We have lost two precious little girls to SRPS type ll. We were not in touch with Dr. Krakow at Cedar Sinai for our first pregnancy, so we spent a year and a half with no answers. Shortly after Christmas our second daughter was delivered a stillborn, her body was sent to Cedar Sinai as well. Dr. Krakow had a diagnosis immediately for us: SRPS type ll. I would appreciate any contact with other short rib families, so please reply back! The Baranowskis are such great people for giving us this website to have contact with other families that are struggling with such rare losses. Thank you Kevin!
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Rank: Newbie
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Joined: 11/5/2008
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Location: Omaha
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Hello: I lost my daughter to Skeletal Dysplasia type II on May 15, 2006. I am willing to talk to anyone who is going through this and I can recommend some great doctor's in the Omaha area. If any mother who are going through this and needs to talk to anyone I am here for you. You can email me! Take care.
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