“I can’t believe this,” I’ve thought to myself more times than I can count in the past several weeks. It started at the beginning of my pregnancy, at around 12 weeks when we received some interesting results from our prenatal genetic screen. “Your results returned as ‘atypical’, there is an abnormal finding on chromosome 18 believed to be of placental/fetal origin.” Those are the words I received at a televisit with the genetic counselor once she had a chance to review my reports from the lab. It all seemed so gray, so noncommittal. After many conversations with the genetic counselor, it was determined this could’ve meant the baby had trisomy 18, a partial trisomy 18, a chromosomal deletion, or the abnormality could be confined to the placenta and have no effect on the baby. It also could be a test error. As you can probable imagine, I took a deep dive into Dr. Google. Fortunately, there is very limited information on these atypical test results, but my confidence grew as it seemed the statistics favor a test error or an abnormality confined to the placenta. We were scheduled for a 15 week anatomy scan where the maternal fetal (high risk) doctor would look for abnormalities and markers that would indicate a chromosomal issue. They found nothing.
We left feeling so confident our baby was healthy and this was all causing me a lot of useless anxiety. Typically babies with trisomy 18 have significant anatomical markers that are obvious even on a 15 week ultrasound, and the likelihood of a random chromosome 18 deletion or small duplication seemed so unlikely. We were happily sent home to return for a 20 week full anatomy scan where the doctors were confident we’d confirm no issues with baby.
Our 20 week scan threw us for a loop. The baby has a choroid plexus cyst (a small brain cyst), which can be found in healthy pregnancies but can also be a marker for Trisomy 18 when combined with other risk factors. Given our prenatal screen and this cyst, we felt called to know definitively if baby was facing any chromosomal abnormalities. We returned a few days later for an amniocentesis, where they draw a small amount of amniotic fluid to culture the cells and analyze the baby’s DNA. This is the only way to diagnose a chromosomal abnormality prenatally. Still, we felt confident the baby would have all the right numbers of chromosomes. We were told to expect results in 3-4 days. By day 7 we still had heard nothing. I wish I could convey my anxiety through all of this, but I wouldn’t wish it on anyone.
On day 8 (Friday), I finally got the call I was waiting for. Unfortunately, it wasn’t the conversation I was expecting to have. I FULLY expected the genetic counselor to confirm what I felt – that the baby is completely fine, and this was all one roller coaster test of patience. While I still feel confident the baby will be OK, Mitch and I have once again been dealt an unexpected hand.
Our baby has a rare chromosomal deletion called 18q deletion. It affects around 1:50,000 babies, though even that statistic varies. If you’re reading this and thinking “Wait… WHAT?!” then you know exactly how we’re feeling right now. We are shocked. Not only is this very rare, the combination of our other homie with an extra chromie (Regan) and this baby is essentially unheard of. It is very likely we are the only family in the country with this combination of chromosomal differences. Each of these abnormalities (Regan’s T21 and this baby’s 18q-) happen spontaneously for no known scientific reason. But sometimes answers don’t lie in science alone.
It’s not lost on me that one of my last posts I shared my envy that those people I love the most of such distinct passions and callings in life. I guess now I know mine. In some strange way, this is comforting to me. The rareness of our situations makes it somehow feel like it’s exactly what my family is called to be, and exactly where I am supposed to serve as a mom. I don’t want that to sound like this is easy for me; it’s not. This is a painful realization in so many ways, and selfishly, it’s not what I would choose. But we don’t always get to choose, do we? I am humbled by the support we have, and I’m not worthy of most of the responses I get when we share this news.
So – what does this mean? Unfortunately that’s not a question I can answer. This abnormality has a HUGE range of clinical significance. There are adults who go on to receive multiple degrees; a few don’t even know of their abnormality until adulthood. Some have significant health complications ranging from heart defects to hearing loss. Some have cognitive delays or behavioral struggles, similar to a child with T21. Most have some combination of the above. Even those who share identical deletions can have vastly different presentations.
With all that said, our role as parents remains the same. We raise our babies in a supportive and loving environment and we advocate like hell to give them all the support they need to be successful in life. I never couldn’t imagined the joy that Regan would bring us, and Hank is the perfect buddy who will test the patience of his siblings in the best ways. All of this feels very raw and painful and frankly unfair right now, but if I’ve learned anything it’s that you can’t know the joy that awaits the other side of despair. I’m looking forward to knowing that joy again and faithfully praying for grace and strength to take one day at a time. Here we go again, y’alll! Feel free to share our story as you see fit. We will take all the prayers and support we can get!
Also – if you’re wondering about the statistical likelihood of this happening.. it’s about 1:1,000 for T21, Regan and 1:50,000 (or so) for Baby 3. The combination of the two lands us right around 1:50,000,000. Go play the lottery now and please share it with us if you win!
You will continue to be in my prayers!
Love you!
Sherlynn Burks
Thank you so so much, Sherlynn! Love to all the Burks.
God only gives what he knows you can handle. You and Mitch have done one hell of a job with Angel Regan and Angel 😇 Hank so what is a third challenge. I have confidence in your parenting styles that this baby is coming into a love filled home. Faith will carry you through once again.
I will keep you in my daily rosary (the one you guys brought me from Italy). The rosary is very powerful. I say it daily at 12:00 mass and I will dedicate this weeks for you Mitch and all of your Angels.
Love you! Aunt Sharon
I will commit to praying for you ,Mitch and your beautiful family. I pray that God will supply each of your needs. I pray that the remainder of your pregnancy and delivery will be healthy and safe. I pray that the Holy Spirit surround you and keep your hearts in perfect peace. I pray that whenever you feel overwhelmed, that Christ will comfort you. I pray for the wisdom, strength and courage to meet this difficult challenge. As we walk through Lent together, you will be in my heart and prayers. ♥️🙏🏻✝️♥️🙏🏻✝️
This Lenten journey is a new one – thank you for making that connection for us. Your prayers are so felt!
Aunt Sharon you are our one of our mentors in faith and love. Thank you for walking this walk with us!
I don’t have a lot of beautiful or eloquent words that could bring comfort to you and your family as you embark on this journey. What I do know is that we worship a God of perfection and in that we will trust that all will be well.
Be assured of a daily rosary , and my prayers during my Eucharistic Holy Hour. Sending you MUCH love & a big hug ❤️🙏🏻
Becky you’ve been my friend and mentor in faith from afar. Thank you, as always, for all your prayers!
I will commit to praying for you ,Mitch and your beautiful family. I pray that God will supply each of your needs. I pray that the remainder of your pregnancy and delivery will be healthy and safe. I pray that the Holy Spirit surround you and keep your hearts in perfect peace. I pray that whenever you feel overwhelmed, that Christ will comfort you. I pray for the wisdom, strength and courage to meet this difficult challenge. As we walk through Lent together, you will be in my heart and prayers. ♥️🙏🏻✝️♥️🙏🏻✝️
God gives the right parents to each chikd. He must love your family very much. Y all are such an inspiration to do many. We live y all and know we are there with you praying for every grace God can give. Hugs to all
Kathleen and Ben
Love love love and huge back to you, KawKaw. Love you!
Wow, I’m completely blown away with this news! I keep asking God, what are you up to…… but, of course it’s a rhetorical question. He knows what He is doing and that’s all that matters!
Thank you Megan for displaying your faith for all to witness. It’s a faith builder for all of us that love you and your precious mom and dad. I pray for strength of keep on keeping on. Love you Megan😘
Thank you thank you! So many answers we want but we just keep walking in faith. Love you and love to all the Myers <3 Y'all have a special place in my heart, as you know!
My dear Megan,
What a blessing to know there are persons like you that set up an example of faith, live and fortitude … you, your husband, your Children and your entire family are special in the eyes of our Lord and Lady. You have taught me a great lesson… you have come to the top of my prayer list and God knows why this is happening. If we keep we would be like God.
You are His daughter and He has your back.
You might not remember me but I thank you for the priceless example you have given me, us ! God bless you snd your family.
Irene Schwartz’s
So please excuse my poor English.
of COURSE I remember you! Thank you so very much for your kind words. You were such a pivotal part of my elementary experience; it means the world to have support from those who know our roots. Thank you for your prayers. They are felt and appreciated.
Dear Beautiful Grandchildren:. Your Ge and Pawpaw will be praying every day that baby three will be fine and that it receives the same wonderful love that your other sweet ones have. God will surely shine his love on your family in ways only he knows. Baby three could not have better parents than you and Mitch. Much love from Gema and Pawpaw Dutch
My remembrance of you Megan, from STM days of long ago, will always include your smile. You and Mitch, with the support of your dear,loving families, will find that “joy on the other side of despair” and you will receive “the grace and strength to take one day at a time”. Our God come to your assistance. Our Lord make hast to help you. This my daily prayer intention for you. love and prayers