Samuel was diagnosed triomsy 13 moasic by amnio, however triomsy 13 was never found in his body. At 18 months old he was diagnosed with partial monosomy 5q.
My journey with amazing little Samuel began on March 13 2006. I was called to come into the office to discuss the results of my A.F.P. that I had at 16 weeks two weeks prior on March 1st. They explained to me that I had tested positive for trisomy 18. They tested it twice, recalculating my due date for they thought that maybe I had been tested too early. Both results were positive, so I found myself two days later at the perinatologist office waiting to receive a level two ultrasound and amnio. they performed the ultrasound first. The doctor , after looking at the baby for 45 minutes, said that the baby looked just fine and assured me that they usually always find markers on ultrasound with those babies. He then performed the amnio anyway and told me to go home and relax. I had two weeks of elation. Then two weeks later, on March 29th, my world as I had known it would change forever. I received a phone call from my doctors office to come in right away because they had my test results. When I got in there, my doctor told me the amnio was also abnormal, not for trisomy 18, but for trisomy 13. I was in pure shock! I told the doctor that the ultrasound was normal and he said that there are just some things that you just cannot see. He gave me three choices, adoption, abortion, or to keep the baby in which our lives would change forever. We were given two days to make the decision. Two days later, on March 31st, My husband and I found ourselves in the doctors office hearing the worst things I could possibly ever hear in all my life. Unlike most of the trisomy families, we did not hear the typical “incompatible with life” or “no hope”. Those things would have been hard enough to hear. What we heard, was that we already had three children and with an abortion, we could move on and forget and one day have more children. He also said that if our son was in a car accident and all of his bones were broken, what choice do you think you would make? Do you really want to change diapers for the rest of your life? This is not a baby, this is a fetus. Why would you put your other children through this? Multiple abnormalities and a one in a million shot of a mild case. There was much more, but you get the idea. He then put us on the phone with an abortion clinic right then and there. I can just remember being in a fog and feeling very paralyzed. Well, we chose to continue the pregnancy in spite of everything. I changed doctors immediately and through a lot of tears and soul searching, and finding support from the trisomy group, (Therese Ann, Bess, and Liz) and through the strength of the Lord, continued on this difficult journey. By the way, my doctor never told us that it was Mosaic trisomy 13. we looked at our genetic papers and did our own research. During the pregnancy, No abnormalities were ever found, not on ultrasound nor by the cardiologist. It was a bittersweet pregnancy that at times I could really enjoy and some days I wished I was not pregnant at all! It was such an emotional roller coaster ride to say the least. On July 17th, at 34 weeks, due to a high amniotic fluid level, Samuel Charles Mabeus entered the world at 12:58 p.m. weighing in at 4 lbs. 15 oz. and 17 inches long. He was immediately taken to the N.I.C.U. due to his breathing. He spent the next few days on a ventilator, feeding tubes and bili light. A few days later, he still had a few scares of heart rate dropping along with apnea. Then, on Wednesday July 26, we got some unexpected news. Samuel’s karotype came back normal! He had no detectable traces of Trisomy 13 in his blood! On Tuesday, Oct 2, this was confirmed by skin test. Again, no trace of trisomy 13 had been found in his body. The doctors discussed the possibility of a cellular rescue and Mr. Samuel was discharged from the geniticisist. At about 6 months old, it became obvious that Samuel wasn’t developing as the typical child. He continued to radiate God’s love and joy and was nothing short of a blessing. For whatever reason, little SamChops’s health went down hill and he developed feeding and breathing issues. Some doctors believed triomsy 13 must be in his little body somewhere. Samuel continued to love and fight for his little life. He proved himself more than a disorder or diagnosis. Samuel was Samuel and that was how God intended him to be. Little Sammy needed a feeding tube and eventually and treach. He continued to hold on until Feburary 29 2008, when his mission of earth was completed and he was called to his heavenly home to be with Jesus, Mary, and all the angels and Saints. Samuel was a joy and a blessing to all who knew him. Sadly, Samuel died while moving out of state. He was in the van with his Mommy, brothers and nurse and he got a really high fever (106F). Everyone did everything they could to save him. His nurse began CPR and EMT’s worked on him as well. He arrived at a hospital in Georgia where he continued to bless everyone he met, even in his death. Little Sam Chops touched the hearts of the nurses and doctors and many people in that rural town in Georgia. His life was nothing short of a gift and a blessing to all those who knew him and countless others. Thank you to everyone who loved and supported Samuel and his family during his life. Your thoughts, prayers, and support carried us through this journey. Please continue to lift us up in prayer in the weeks and months to follow. We love you! The Mabeus Family Jim, Mary, Hannah, Caroline, James, Adam, and Samuel in heaven www.samuelsspace.com
