My son was diagnosed with Mosaic Triploidy, a very rare disease. There are currently only approximately 50 recorded cases in the world. My goal? Raising awareness and sharing my story.
On November 1, 2011, I took a pregnancy test as 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 guaranteed to last for five years. The first, as well as the second test showed positive immediately. I cried the entire day, knowing in my heart we could not afford another child. Josh insisted we should not believe the tests until we had an ultrasound, confirming the baby.
We went to the doctor on four different occasions and completed four separate ultrasounds before we could see our baby, Castan. Everything went well, other than he always hid from the heart doppler. At fifteen weeks, I could not wait any longer to find out what we were having, so we went to get a 3D/4D ultrasound done. Having three girls and the loss of our other son, we were ecstatic to be having another boy.
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 two weeks behind, but his chest and abdomen were about six weeks behind. I immediately started crying because I knew something was wrong. Josh tried to stay positive and encouraged me not to be paranoid.
Sue, my midwife, instructed us to see the perinatologist. I remember we went there on a Friday, and at that time, he insisted I have an amniocentesis. He was concerned our baby had Down syndrome. I was not sure if I wanted an amniocentesis, partly because of the risks associated with the procedure, but also because I was frightened of the results. The perinatologist pressured us and thus, we decided to get it done. Two weeks later (at 21 weeks), we were called in to his office and were told Castan had full blown Triploidy and would not live. He also said, I was too far along to “terminate the pregnancy,” even if I wanted to. We were devastated.
I was very upset with how he delivered the news, so I got a second opinion. This particular doctor informed us he actually has the mosaic form of Triploidy and had a chance to live – but he would most likely be stillborn. This was still not the news I wanted to hear or accept. So, I started researching everything I could get my hands on. I wanted to know everything about Diploid Triploidy Mosaic Syndrome (DTM), or Mosaic Triploidy. 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, and I started a Facebook page to prove we were not going to give up on him.
My water broke at 29 weeks. We were told that Castan only had a 10 percent chance to live because his lungs were not going to be developed due to him being so extremely tiny. On April 27, Castan was born, weighing one pound and twelve ounces. He was only 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. But 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 – and just as importantly, because he didn’t want to believe. Today, Castan is a little over five months old. He is five pounds and four ounces, 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 seven to eight months. He smiles and he coos. He does everything a normal baby can, except cry. I wanted to let anyone who has this or any other rare diagnosis to know that there is HOPE regardless of what the doctors say.
Anyone who has this diagnosis can feel free to contact me or follow Castan’s page. HOPE, it’s in our Genes.