Mosaic Triploidy

Overview:
Mosaic Triploidy is a chromosome disorder where the person has an extra of every chromosome on some of their cells. There have only been 50-60 cases ever recorded worldwide.

Symptoms:
Syndactyly between 2 toes on each foot Small jaw Large head Low muscle tone Slow weight gain/failure to thrive Curved wrists and feet 2 types of scoliosis Low set ears Constipation

Testing/Diagnosis:
Amniocentisis at 19 weeks.

Treatment:
There are no treatments for the disorder itself. We treat the symptoms he has and will have. He sees physical occupational and speech therapy as well as a nutrionist. He goes to his pediatrician every other week for weight checks and goes to special care clinic once a month. In March he will have an MRI and body cast for the scoliosis.

Resources:
There is not much information. The most support I have had is from a group on Facebook.

Personal Story:
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. My husband was adament that I was not pregnant because I had the Mirena IUD placed in 2009 and it is supposed to last for 5 years. 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. Josh said not to believe it until we had an ultrasound showing the baby. We went to the doctor 4 times before we could see Castan. Everything went well other than he always hid from the heart doppler. AT 15 weeks I could not 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 amniocentisis. He was pretty sure our baby had Down Syndrome. I was not 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 devestated. I did not 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 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. 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 did not expect him to live. I did not understand because all of his tests had shown he was doing amazingly. The doctor said he would not 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 did not understand his disorder. Today Castan is a little over 7 months old. He is 5 lbs 8 oz 19.5 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 about a week or so after we got home which they said he would not do until 7 or 8 months. He smiles. He coos. He does everything a normal baby can except hold his head up and sit up. He also grows very slowly. In 5 months he has not even gained 5lbs

Contributed by MOM Christine Brown. For more information click HERE.