Caleb is our second son, and his life has been an unexpected gift. I call him "my surprise child." Finding out I was pregnant with him was a surprise, just as much as learning of his diagnosis after he was born.
We knew around 20 weeks gestation that something might be wrong. The doctor noticed on ultrasound that Caleb had an enlarged renal pelvis and that his cerebellum was missing the vermis. We were told that these two findings could be signs of a chromosomal abnormality, or variants of normal. The only way to confirm was to have an amniocentesis, but we declined it.
I had a second ultrasound, and the doctor who saw us that day reassured us by telling us that there was a 95% chance that everything was going to be OK based on what he could see. The renal pelvis had improved, and he figured the cerebellum issue was most likely a normal variant. This optimistic doctor was obviously wrong, but I am very glad he eased our concerns because I was then able to enjoy the rest of my pregnancy. I, for once, trusted the statistics.
Caleb was born on March 25, 2010 three weeks before his due date. During my pregnancy nothing, besides the ultrasound findings, pointed to any problems. He did, however, measure at 35 weeks gestation when I went in for my 36-week check-up. This sudden slow down in his growth did not seem to concern the nurse practitioner much. However, I now see that it was all part of his syndrome.
Caleb did not cry right away when he was born and needed some blow-by oxygen. When they handed him over to me, I noticed right away that there was something different about him. Something did not seem right. His nose... How quiet he was... He showed no interest in breastfeeding... He seemed to be taking in his surroundings and acted carefree. To this day, Caleb looks at the world carefree. He did have to spend six days in the Special Care Nursery after the nurse noticed that he was getting husky and that his glucose level was normal low. Based on appearance, nobody guessed he had Trisomy 13. Caleb did not have many of the common features or problems present in Trisomy 13. He was diagnosed at two days of age.
Life with Caleb is not easy. Just like with any other baby, there are sleepless nights. To the regular cares, you add all the medical cares: several medications several times a day, preparing milk bags for the feeding pump, numerous doctor's appointments, physical therapy, nurse visits. However, it is all worth it. We do grieve the fact that our son will face many challenges and delays, yet we love him and hope he is with us for a long, long time.
Our surprise boy has surprised everybody by surviving a week of continuous apnea spells at 3 weeks of age, and of course, by reaching this point in his life. His postnatal growth has been very slow. He weighed 5 pounds 14 ounces at birth, and right now, at 11 months, he weighs only 9 pounds 7 ounces. He suffers from slow motility, gas, and tummy discomfort frequently, but we have found ways to help him. He has been diagnosed with delayed visual development, but his eye structure is quite normal (we hope he is able to see our faces some day). Even though he failed his newborn hearing screen, we can tell he does hear.
Caleb is a lucky boy. He has a healthy heart and healthy lungs. He has suffered from urinary retention so it was suspected that his spinal cord might be tethered; however, that has been ruled out, and it is likely a side effect of some of his medications.
Caleb's life is a gift. I treasure him. We (mom, dad, brother Daniel) treasure him and love him just the way he is. Even though our journey will be bittersweet, we are looking forward to giving and receiving love through our little boy; we are looking forward to the many lessons we will hopefully learn as we go. It has been a painful, sad road at times, but my son is so, so worth it that I would not change a thing. I want him with me just the way he is. I will acknowledge the pain and the disappointment, but I will also rejoice in who he is.
At almost 12 months of age, he "talks" to us in one-syllable coos and grunts. He knows how to get our attention and can communicate to us when he wants to be picked up or put down. Brother Daniel loves involving him in his play, and seeing Daniel's love and concern for his little brother has been one of the most touching and special things of our journey.
to Trisomy 13
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-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.