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Pioneering innovative therapies to improve the lives of those with genetic intellectual disabilities

Journey to Luke

By: Sybil Kestler, 2014 
Luke's Mom
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We already have one boy, who is currently 6.  It was a difficult pregnancy because I have had type 1 diabetes since 1986 and it wasn’t always well managed, so stabilizing my blood sugars all the time was pretty stressful.  When our son was born, he was throwing up 6-8 times a day due to eosinophilic esophagitis, a condition caused by allergy cells in his esophagus, which he outgrew by the time he was 3.  So the thought of another child really didn’t enter our minds for a long while.  However, in the summer of 2012, I found out I was pregnant.  Unfortunately, I ended up having a miscarriage and was diagnosed with Hashimotos thyroiditis.  After losing this baby, I realized that I had really wanted another child and wanted to try again, but my husband was concerned because of my health and our age.  So we agreed that we would try until the end of the year.

I was scheduled to get an IUD in December of that year, as I hadn’t gotten pregnant yet.  Doing some research made me hesitant about proceeding, so I decided to wait until I talked more with the doctor about it.  Then, in January 2013 we found out I was pregnant!  We saw a heartbeat so all looked well and we were to come back for our next visit at around 12 weeks.  In March, I felt like something was wrong.  I went to the doctor and it turned out that the sac kept growing, but that the baby stopped growing at around 8 weeks.  I was devastated. I ended up miscarrying a couple of weeks later.

Our doctor just said it was bad luck and to try again.  I couldn’t accept that answer, so I researched some more and found that many women with Hashimoto’s have difficulty carrying to term.  I spoke to a therapist and she told me she had seen a reproductive immunologist (RI) that happened to live in our area that helped her with her difficulties in pregnancy.  I saw the doctor in early May and did some testing.   I was told to return in a month to discuss the results. 

We went on a family vacation to Florida in late May.  While on vacation I got a positive test result and called the RI right away.  I went in for an appointment and they found bleeding around the sac at 5 weeks.  The test results weren’t back yet, but they put me on an IV treatment right away to calm down my immune system, which saved the baby.  If we had waited a few days later, we could have lost our baby.  I found out that I had an overactive immune system and that my body was physically attacking the pregnancies.  They put me on hormones and supplements, but couldn’t put me on the full treatment plan because of the bleeding.  I was closely monitored twice a week throughout the first trimester and was mainly treated with IV infusions to help with the bleeding.  I also did acupuncture twice a week and the blood flow to the uterus was closely monitored throughout, making sure our baby had the nutrients he needed to be healthy.

During this same time, I went back to the perinatal specialist and elected to have the Materniti21 test done, which tests placental DNA in the mother’s blood.  The test could be taken as early as 10 weeks and could also tell you the gender with pretty high accuracy.  So I did it, wanting to know the gender more than anything else.  

When I was around 13 weeks, I was at the reproductive immunologist and the scan showed the bleeding had stopped!  That same day, the doctor’s office had called with the results of the Materniti21 test while I was still at the RI office.  My elation from knowing the bleeding had stopped quickly turned to feelings of despair.  He somberly told me that the test had come back positive for trisomy 21 with around 99% accuracy, and he recommended an amnio.  I started to cry.  I hadn’t expected the news as the NT measurement was normal, and I didn’t know much about Down syndrome.  He pressed that we didn’t have a lot of time to make a decision.  I was completely ignorant about what he meant.   All I knew was that I wasn’t going to risk my pregnancy to do an amnio so I declined.  I later realized that he was pressing for time in case we decided to abort, which upset me as that was nothing I even thought to consider.  He referred us to a genetic counselor, so we set up a meeting.  We also found out we were having a boy, but the joy of that news was diminished with the other news we received.  

The nurse at the RI office told me about Gigi’s Playhouse, which is a Down syndrome achievement center, and suggested I talk to someone there.  I reached out to them and went to an open play, where I watched little babies and toddlers crawling, walking, and playing while their mothers talked.  It was eye-opening and showed me that life with a child with Down syndrome is not scary, and in fact, could be very rewarding.   Even the mothers whose children had complications at birth were supportive and said that although it was difficult, their children were healthy and happy and that they loved them very much.  We began to accept the fact that our child was likely going to have Down syndrome, and we began to look forward to the arrival of our last child. 

Our baby decided to come into the world on a night when my son had to sleep with me because of his night terrors.  I think his baby brother wanted to meet him so badly, that he was ready to come out.  So I breathed through contractions until my son woke up, drove him to school and went straight to the hospital.  Once I arrived, they decided to proceed with a C-section even though there weren’t any problems.  At 11:31 a.m. on 1/9/14, Luke was born at 37 weeks and 5 days. 

When I first saw Luke, I knew he had Down syndrome.  It didn’t make me happy or sad.  It was just kind of a statement, and I was more concerned about his health than anything else.  His Apgar score was a 9, and he had strong lungs.  Hearing him cry was a wonderful sound to me.  Luke was doing wonderfully and he never had to step into the NICU.  His heart echo came back with a small hole (PDA) that they expected to close before he was one, so they told us his heart echo was normal.  Everything else looked good and they declared him perfectly healthy.  We considered ourselves very lucky, and I believe that my intensive prenatal care hugely contributed to him being so healthy, especially given all my health risks.

After all the standard tests, including a look over by the genetics team, we got to go home five days later.  I’m glad we knew about his Down syndrome beforehand as it allowed us to enjoy his birth more.  By then, I had read all the risk percentages of needing surgery, complications, etc.  But none of that mattered when Luke was in my arms.  I read somewhere that in no other circumstance does someone give you a pamphlet that your baby will have a X% chance of a heart defect, Y% chance of hearing loss, digestive blockage, etc., than when you are given the prenatal diagnosis of Down syndrome.  None of the percentages mean anything when you hold your baby, and all that matters is what is relevant to you and your baby.

Luke is pretty laid back and content to be just observing the world around him.  He’s doing well with therapy, and has been eating table foods since 6-7 months through baby-led weaning.  We are fortunate to have an excellent team of therapists through Early Intervention who are experienced with Down syndrome.  We also recently started aqua therapy at a local therapycenter.  We revel in every achievement Luke makes and are so proud of him. We know he will achieve the typical milestones, but it just may take a little longer than other kids.​

Looking back on the past year, I realize that we are very fortunate to have Luke in our lives.  I still worry a lot about Luke and his future, but not much more than I did with my older son.  The worry is all part of motherhood, but it’s the joy of every smile and the thrill of every accomplishment that I try to cherish.   Someone religious once thanked me for having Luke.  This confused me at first because the reason we wanted to have Luke had nothing to do with religion.  But I can understand where that person is coming from.  However, for us, there was no choice to make as we had accepted and loved him as our child as soon as we found out we were pregnant.  We were glad we had known prenatally as it helped us get over the grief of the news, do our research and reach out to other families for support.  For us, the Down syndrome does not change that our baby is ours, but knowing about it did help us prepare for his birth so that we could celebrate his life.

I think about the very popular “Welcome to Holland” analogy about finding out about your child’s Down syndrome.  In some ways I can relate, but in others, not so much.  Since we had already had 2 miscarriages right before Luke and bleeding up to the day we were told of his diagnosis, we were just so grateful to be having a child and we felt that Luke was meant to be in our lives.  So I feel like our story is more like “Welcome to Saturn” after expecting a trip to Mars, because a trip to space was still a trip to space and a baby with Down syndrome was still our baby.  It was so difficult for me to stay pregnant that it almost felt impossible at times, but I strongly feel that it’s a miracle that Luke is our rainbow baby.  He is very much meant to be our child to love.

 

 

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