I am just trying to get awareness out there for a very rare disorder that my son has, Mosaic Triploidy. There are only around 50-recorded cases ever in the world. On November 1, 2011, I took a pregnancy test because I had been having symptoms for a few weeks. The first, as well as second, test showed positive immediately. I cried all that day because I knew we just could not afford another child. We went to the doctor, 4 times before we could see our son Castan. Everything went well, other than he always hid from the heart doppler. At 15 weeks, I couldn’t wait any longer to find out what we were having so we went to get a 3D/4D ultrasound done. We were ecstatic to be having a boy, having 3 girls already and losing a son. At 19 weeks, we went to my midwife for an anatomy scan. There we discovered that Castan was not growing correctly. His head was only 2 weeks behind, but his chest and abdomen were about 6 weeks behind. I immediately started crying because I knew something was wrong. Josh tried to stay positive and told me I was just paranoid. Sue, my midwife, ordered that we go see the perinatologist. We went there that Friday. He insisted on an amniocentesis. He was pretty sure our baby had Down’s Syndrome. I wasn’t sure if I wanted an amnio, because I was scared of the results. He pressured us, so we decided to get it done. 2 weeks later, (at 21 weeks) he called us to his office. He told us that Castan had full blown Triploidy and would not live. He said I was too far along to “terminate the pregnancy”, even if I wanted to. We were devastated. I didn’t like how he delivered the news so I got a second opinion where the doctor informed us he actually has the mosaic form of Triploidy, and had a chance to live but would most likely be still born. This was still not the news I wanted. I started researching everything I could get my hands on. I wanted to know everything about DTM. It is such a rare disorder that there is very little information out there. I joined a group of family members of babies with DTM. I started a fb page to show that we were not going to give up on him. (http://www.facebook.com/BelieveInCastan) My water broke at 29 weeks, where we were told that Cas only had a 10% chance to live bc his lungs were not going to be developed due to my water breaking and him being so extremely tiny. On April 27, Castan was born weighing 1 lb 12 oz, and was 14 inches long. From day one he has been a fighter. A few days after he was born, his doctor told me he didn’t expect him to live. I didn’t understand because all of his tests had shown he was doing amazingly. The doctor said he didn’t live because he was “so small.” I told him I chose to believe differently. The doctor tried to quote the statistics of full blown Triploidy to me. Full blown is incompatible with life, and has the longest recorded case living to 10.5 months. Every statistic he quoted me, I corrected. I did not want this doctor giving up on my son, just because he didn’t understand his disorder. Today, Castan is a little over 3 months old. He is 4 lbs 8.5 oz, 16.5 inches long. Every day he amazes me. The doctors told me he would have extremely low muscle tone and would develop way slower than “normal” babies. He started rolling over already, which they said he wouldn’t do until 7-8 months. He smiles. He coos. He is doing everything a “normal” baby does, except cry. This little guy just amazes us. I wanted to let anyone who has a diagnosis of Mosaic Triploidy, or any disorder for that matter, know that there is hope regardless of what the doctors say. I hope anyone who has this diagnosis will contact me, and also follow Castan’s page, if they would like.


The support, information and encouragement provided by the PPFL parents is not meant to take the place of medical advice by a medical professional. Any specific questions about care should be directed to a health care professional familiar with the situation.


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Prenatal Partners for Life
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Email: mary@prenatalpartnersforlife.org