Birth Defect Awareness: Our Stories

   If there’s one thing that can be universally agreed upon, it’s that every baby deserves a happy, healthy, and full life. When parents dream of their unborn child’s future, they don’t expect a long road of medical complications or a frightening diagnosis. But, did you know that 1 in 33 babies born in the United States each year has a birth defect? Surprisingly common occurrences, birth defects are structural changes present at birth that can affect any part of the body. Nearly 120,000 babies are affected by one or more each year, and these birth defects can range from mild to severe. Learning that your sweet, perfect baby has a birth defect can raise many complex emotions. You may feel devastated, frightened, and uncertain about the future. Many birth defects happen for reasons far beyond a parent’s control, and while navigating your baby’s medical diagnosis can be overwhelming, it’s important to remember that you are not alone. 
     January is Birth Defect Awareness Month, and it’s a time to raise heightened awareness about the many different birth defects that children live with and the ways they impact these families. Many parents find it helpful to connect with others in the same situation, so that they can share resources, advice, and also offer emotional support to one another. Several courageous families were willing to share their stories with us, so that we could share them with you. It is our hope that all those who read these stories see their value. Whether these families make you feel less alone, or simply teach you something new, it’s impossible not to feel inspired by the strength and resilience of their incredible children.

HOLLY’S STORY

 

Q: What birth defect does Holly have?
A: She was born with CMV (Cytomegalovirus).

Q: What were/are some of the biggest challenges that came with the diagnosis?
A: The biggest challenge we have faced is that once we contracted the virus, there was nothing we could have done further than wait. We had to wait till she was born to see the severity, and even to this day, her abilities are unknown. Holly passed her newborn hearing test, but at 20 months, we now know that she has hearing loss in both ears. We will have to continue to test her hearing to see if it progressively gets worse. The unknown is the scariest and challenging part of the virus.  

Q: How has the diagnosis impacted your day-to-day life? 
A: When we were diagnosed at our 30-week appointment, we were very confused because it was so common and life-threatening to a fetus, but we had never heard of it before. Hollys diagnosis has changed our day-to-day life because she may be 20 months, but is met with several developmental delays. We do therapy 4 times a week and are constantly working with her to build up her strength. While most 20-month olds are running up and down the park, we are working on tummy time to gain head control and possibly be able to sit up some day. 

 Q: What advice would you give parents of children with the same birth defect?
A: Don’t let the virus define your child. They will achieve their goals on their own time.

Q: What do you wish other people would know about your child’s birth defect?
A: CMV is the leading viral cause of birth defects and developmental disabilities, including hearing loss, vision loss, and cerebral palsy, but only 9% of expecting mothers have heard of it. Over half of adults have been infected with CMV by age 40. Women are not routinely screened for CMV during pregnancy. Research shows that at least 1 in 4 healthy children in a daycare setting shed the virus in their saliva and/or urine. Awareness is important. Pregnant women need to know this is out there. Increased hand washing, avoiding kissing toddlers on the mouth, and not sharing utensils will help prevent this potentially devastating disease. 

Q: In what ways has your child inspired you?
A: Holly has been met with numerous obstacles, whether it’s her developmental delays, feeding disorder, hearing loss, or her hypotonia, but that has never once deterred her. You can ask anyone that knows her, and they will tell you that she is the happiest baby to be around. She is constantly fighting and pushing through her diagnosis to achieve her goals, and always does it with a smile on her face. She has never given up since she was brought into this world as our tiny 4lb 3oz baby. Holly’s smile and laugh can truly turn anyone’s day around and she is the light of our lives. Holly has shown me how to be strong when I felt weak, and resilient when I felt defeated. There have been times when I have struggled with her diagnosis because I feel like she is missing out on so much, but she has shown me that she is right where she needs to be.

JACK’S STORY

 

Q: What birth defect does Jack have?
A: Jack has a few different birth defects, none of which we knew about until he was about a week old. He has been diagnosed with cerebral palsy and epilepsy, and had a brain bleed in utero (cause unknown) that resulted in parts of his brain forming differently than a neurotypical brain. Jack has bilateral polymicrogyria (PMG) which means certain sections of his brain have more and smaller folds than the correctly formed sections. PMG has the potential to cause delays in many areas of development but impacts every child differently. One example is that Jack is slightly behind in his speech milestones, and has low muscle tone. There are some genetic mutations as well, that are a cause for concern. Jack first had seizures when he was a couple of days old, which are now, thankfully, relatively controlled.

Q: What were/are some of the biggest challenges that came with the diagnosis?
A: We could easily write a novel about our experiences. The biggest challenge has always been the unknown. We already were faced with having our first child in a pandemic, but having a newborn suddenly having seizures who was transferred to another hospital, and subsequently being told he had substantial brain malformations was indescribable.  We were told he may not live, and that if he did we should expect him to have severe delays starting at four months old. It was incredibly traumatizing, as all of this happened during a time that was unsafe and not permitted to have visitors in the hospital. We spent weeks in the NICU with him, while I remained a patient after having an emergency cesarean. We lived in those first four months in a very dark place, living in constant fear.  But we hit four months, and he kept progressing, and has continued to do so.
    Now, our biggest challenge is the unknown. Jack has beaten the odds, and he not only survived, but has absolutely thrived.  He has some milestone delays, but not nearly to the degree expected and he has continuously stunned his team of doctors and therapists with what he is capable of. Yet, no one knows what the future holds—as we have been constantly told, no one has a crystal ball that can tell us what his future looks like. He is high risk for so many things, and yet he's already proven to us that he won't be held back by what scans and tests can tell us.  We have endless numbers of questions and so few answers—and living with that, trying to come to terms with the fact that we can't have those answers, is a continuous challenge.  

Q: How has the diagnosis impacted your day-to-day life? 
A: As parents, we feel like we have to overthink every single thing our child does.  We always have to second guess when he does something unusual or new—was that a seizure, or is he just having fun? Simple activities for any parent involve a lot of packing and hauling a bag around with you, but we always have to make sure we have emergency medicine, or anything else we might need if we got stuck away from home.  Jack is 18 months old and isn't walking yet as a result of his low muscle tone, so we have to ensure that we give him ample opportunities to work on his physiotherapy goals, as well as having time to just be a kid.  Maintaining that balance can be tricky!
     The flip side of that is that we absolutely don't take anything for granted with Jack—there are so many happy moments and we truly find such joy in celebrating him reaching milestones.  Every parent must feel a rush of excitement when they see their child start crawling, but I was crying with joy because we didn't think it would happen.

Q: What advice would you give parents of children with the same birth defect?
A: It is hard to give specific advice, because every child is impacted so differently with polymicrogyria.  What we've seen on Jack's MRI scans compared to what we see him accomplish daily is completely night and day.  Medical teams can tell you what your child's brain looks like, and certain challenges they may face, but those scans absolutely cannot tell you how they will develop, learn and grow.  Keep a binder of all of your child's medical documents that you can bring with you to appointments or if you need to go to a hospital—in our case, so many medical professionals have never even heard of polymicrogyria, so as parents, we had to become the experts.  Having documents with you, especially in any urgent scenario, can be an amazing tool and has come in handy countless times for us.
     We'd recommend that other parents absolutely seek out early intervention programs in their area.  We are working with our local Infant Development Program (IDP). It is a free service and we have Jack work with a physiotherapist through their programming and are currently being evaluated by a speech and language pathologist.  They have absolutely made a huge difference in his development and have been an incredible resource to our family.
     For yourself as a parent, you can seek help in whatever way you feel is beneficial to you. I found what was most beneficial for me was speaking to a therapist specialized in birth trauma as well as meds, as I was diagnosed with postpartum anxiety and PTSD.  Support groups exist for parents online, and speaking to other parents that understand your experiences is incredibly helpful. Don't forget to take time to support yourself so that you can best support your child.

Q: What do you wish other people would know about your child’s birth defect?
A: Never underestimate what our child is capable of. Jack has such a rare diagnosis that most people or medical professionals we encounter have no idea what it is—we don't mind answering questions and helping others to understand what it means, but we never want people to make an assumption about his capabilities based on what they see about him on paper.

Q: In what ways has your child inspired you?
A: When Jack was diagnosed, we were given all the worst-case scenarios and feared he wouldn't reach many milestones. Jack doesn't know any differently. He doesn't realize that he has to work so much harder than neurotypical children to reach some gross motor and fine motor milestones.  The joy you can see on his face when he finally achieves something like solving a puzzle or cruising across a big gap between pieces of furniture is breathtaking. He is such a happy kid. He'll work so hard during a physiotherapy session and be visibly exhausted, and yet still has a smile on his face at the end of the day.
     Watching him overcome the obstacles he faces, seeing how much joy he finds every day, is such a privilege for us.  We had to spend his first birthday in the hospital, which was incredibly difficult for us as parents, but the amount of fun he had despite the situation was just amazing. We still have so many fears about the future or concerns about what challenges he will face as he grows, but we know he's going to surprise us all. Every parent will tell you how awesome their child is—but we really can't say it enough.

FINLEE’S STORY

 

Q: What birth defect does Finlee have?
A: Finlee June has Treacher Collins syndrome. 

 Q: What were/are some of the biggest challenges that came with the diagnosis?
A: With Treacher Collins Syndrome being a rare condition, finding the right care team wasn’t the easiest. But, I think the biggest challenge associated with Finlee’s diagnosis is the unknown. It’s not a condition that’s covered, researched, explained. I was in pediatrics for a few years before having my babies…I had never even heard the term before the day our Finlee June arrived. 

Q: How has the diagnosis impacted your day-to-day life? 
A: Oh boy, drastically. I went from a SAHM (stay-at-home mom) of 1 to a SAHM of 2 with a self-taught nursing degree. I learned more in the 6 weeks Finlee was in the NICU than I feel I did in 2 years of college. Getting out of the house now requires 3 diaper bags, 1-2 full of medical supplies. I used to forget my first daughter’s diapers & wipes at home, so I’ve had to stay on my A-game with Finlee! 

Q: What advice would you give parents of children with the same birth defect?
A: If I could tell the parents of a sweet, new Treacher Collins baby one thing, it would most definitely be that it does get better. We are 11 months in and it keeps getting better. Those first few days, weeks, even months are so fragile and scary. But, once you buckle up and start driving, the journey is incredible. I wouldn’t change a thing! 

 Q: What do you wish other people would know about your child’s birth defect?
A: Treacher Collins Syndrome is the underdevelopment of the facial bones while the baby is in the womb. A random genetic mutation. Neither her dad or I are responsible. With that being said, her face may not look like yours, but her brain does function exactly the same…she understands. She may not have ears like yours, but thanks to her hearing aid…she hears. Always, always, always remember to be kind. 

Q: In what ways has your child inspired you?
A: I don’t know if there’s enough room in my post to talk about all the different ways Finlee June has inspired me. She is tiny, but mighty. She has the strength of a million grown men and then some. She smiles from the minute she wakes up to the minute she falls asleep (might even smile a few times in her sleep too!) She has inspired me to live & to love with everything I have. She is proof that there is something good in every day, you just have to be willing to get up and look for it.

MAX’S STORY

Q: What birth defect does Max have?
A: Max has a brain anomaly called Dandy-Walker Malformation (DWM). He is missing a portion of his cerebellum and vermis—two parts of the brain that control fine and gross motor skills. He also has PHACE syndrome that includes a facial and brain hemangioma and posterior fascia anomaly (DWM).

Q: What were/are some of the biggest challenges that came with the diagnosis?
A: We learned of Max’s diagnosis at 16 weeks gestation. There were no certainties doctors could give us with his diagnosis. There is a wide range of severity in DWM, so we were told that he could be severely handicapped or none at all. Our doctors told us it was a wait-and-see situation, as challenges or lack thereof would present themselves as Max grows and develops. My husband and I went through years of infertility and miscarriages, so we were heartbroken to hear of our first living child potentially having a challenging life. Max is 8 months old now and starting to crawl. We are so thankful to see him reach milestones and watch his determination!

Q: How has the diagnosis impacted your day-to-day life? 
A: Max is a healthy baby as a whole. He is on track with his milestones. We give him an oral medication twice a day to shrink his hemangioma, as well as see a neurosurgeon regularly to monitor for hydrocephalus through MRI scans. 

Q: What advice would you give parents of children with the same birth defect?
A: Our doctors were so thorough and helpful as they helped us navigate my pregnancy and Max’s development, but one thing we have learned is that children are extremely resilient and each one is so different. Though we may anticipate challenges in their future, they can and WILL surprise you in their abilities.

Q: What do you wish other people would know about your child’s birth defect? What ways has your child inspired you?
A: Max is so full of joy! In his 8 months of life, he has shown us how to be brave, determined and that life is full of possibilities. He has taught us to trust the Lord with all things, as we have the privilege of seeing His faithfulness and love toward us each day and in every circumstance. We are so grateful for his life and diagnosis, as we have learned to never take anything for granted and to find joy and gratitude in the life we share with him!

JOLENE’S STORY

 

Q: What birth defect does Jolene have?
A: Jolene was born with Hydrocephalus (due to that she also developed craniosynostosis and strabismus).

 Q: What were/are some of the biggest challenges that came with the diagnosis?
A: All the uncertainty. No one was able to tell us if she would be affected developmentally or how it would affect her appearance. With hydrocephalus, there is such a wide range of outcomes depending on what other conditions your child was born with and how soon you are able to get treatment and what treatment path you take. I think if I knew what was laying ahead of us, it would've been a little easier but I just really had no clue. We also didn't discover she had hydrocephalus until after she was born.

Q: How has the diagnosis impacted your day-to-day life?
A: Luckily, Jolene is now thriving. She actually is in the gifted and talented program at her school and makes all A's in class. She did have developmental delays (mostly due to the size of her skull, it was in the 200%+). The first 2 years of her life were stressful—we went to the doctor every month to measure her skull. We had to frequently see a neurologist and she had to get regular sonograms and MRIs.

Q: What advice would you give parents of children with the same birth defect?
A: Don't worry about things you cannot control. Try and focus on the "next step" and be present. There’s a lot of information being given to you at first, but if you can take it one step at a time and try to stay cool-headed (easier said than done), you will have a lot more peace of mind. I spent a good month depressed and anxious and I couldn't take my eyes off of her after her surgery. A friend reached out and prayed over us and just reminded me that worrying about things I don't even know are going to happen wasn't productive and wouldn't help Jolene in any way.

Q: What do you wish other people would know about your child’s birth defect?
A: Hydrocephalus is when your body cannot drain the spinal fluid your brain produces on its own. This causes your skull to swell and can lead to seizures, vision problems, brain damage, headaches, and can be fatal. Jolene now only has a slightly larger and narrow skull for her age and she has strabismus (commonly known as lazy eye) due to the excess fluid her brain was born with. If you feel like there is something abnormal with your child, you need to advocate for them. I am the one who detected her craniosynostosis and strabismus. I brought it up to her therapists and her pediatrician, and neither of them could see what I was talking about. Finally, I got a referral for a surgeon and an eye specialist, and after a few appointments and taking lots of photos of her at home, I was able to finally get her conditions recognized and make a care plan.

Q: In what ways has your child inspired you?
A: She is so resilient. She has overcome so much in her short life and she has always risen above whatever expectations the medical community has given us. I am absolutely in awe of the miracle that is her.

KNOX’S STORY

Q: What birth defect does Knox have?
A: Knox was born with Down syndrome, Congenital Heart Defects (AVSD + Coarctation of the Aorta), Bilateral Clubbed Feet, and Transient myeloproliferative disorder.

Q: What were/are some of the biggest challenges that came with the diagnosis?
A: Knox spent his first 47 days of life in the cardiac ICU and underwent his first open heart surgery at five weeks old. As first time parents, we were so anxious for our friends and family to meet our sweet special boy. The days in the hospital were long and difficult to go through amidst a pandemic. The isolation we felt during his first several months of life throughout the preparation and recovery of multiple open heart surgeries and hospital stays was challenging at times. 

Q: How has the diagnosis impacted your day-to-day life?
A: Receiving Knox’s diagnoses while I was pregnant was one of the hardest seasons I’ve experienced. Since he’s been in our life, I truly feel so lucky to encounter the joy and beauty he brings on a daily basis. He is such a blessing and I’m reminded of that every morning when I wake up to his infectious smile. Our calendar stays filled with multiple appointments on a weekly basis as Knox is followed by what feels like every specialist possible, but knowing he’s receiving amazing care for all of his needs makes the crazy schedule worth it!

Q: What advice would you give parents of children with the same birth defect?
A: Finding a support group of families going through similar experiences has helped us navigate some of the unknowns. It is absolutely normal to grieve the life you pictured as you prepare for the unexpected. Comparison really is the thief of joy. Find the beauty in your circumstance and cling to your support system. Your sweet baby will teach you more than you could ever dream of teaching them! 

Q: What do you wish other people would know about your child’s birth defect?
A: It may take Knox longer to achieve milestones and his goals throughout life; however, there is no limit to his abilities. He will have the opportunity to get an education, build friendships, go to college, drive a car, have a significant other, establish a career, etc. There are endless possibilities for Knox and his future despite his differences. 

Q: In what ways has your child inspired you?
A: There is nothing that compares to witnessing your own child’s strength as he undergoes a round of chemotherapy during his first week of life, a heart surgery at 5 weeks old, followed by a second heart surgery at 5 months old, then casting and bracing with a surgery for his clubbed feet. Not to mention the hundreds of appointments, needle sticks and tests he has been through before his first birthday. He knows no different and wears the biggest smile through it all. Since the day he was born I have called him my tiny hero. He really is a miracle and gift who inspires me to be kind, caring and strong through every mountain and valley of life. I’m so proud this little warrior is mine!

SAGE’S STORY

Q: What birth defect does Sage have?
A: Sage has a unilateral limb difference, as far as we know. At the moment, she is undiagnosed. We have more doctor appointments before we are given a medical term for Sage’s arm. At the moment, doctors are pretty adamant it is amniotic band syndrome. 

Q: What were/are some of the biggest challenges that came with the diagnosis?

A: I think some challenges we have experienced as first time parents since learning about Sage’s limb difference is not knowing if/when she might struggle with milestones physically. So far, she has shown incredible strength (as we knew she would). She never gives up, even when we can tell she may get frustrated. She keeps trying until she succeeds in anything she does! 

Q: How has the diagnosis impacted your day-to-day life? 
A: I don’t feel like it has impacted our day-to day-life, so to speak. As far as emotionally, yes, and being her mother, I am constantly thinking of her future and what I need to do to prepare and guide her.

Q: What advice would you give parents of children with the same birth defect?
A: Speaking in a medical setting, I think the word “defect” is completely fine to use. Moving forward, I would wish that it would be called “birth difference awareness month.” When I hear the word “defect,” it tends to have a negative connotation behind it, meaning “bad, or not good.”
    If I could give any advice to a parent of a child with a difference, it would be to enjoy the little moments and to validate your own feelings. You’re allowed to be frustrated for your child, you’re allowed to feel sadness, you’re allowed to worry. All these emotions and day-to-day feelings are completely valid. You are doing an amazing job and I’m proud of you!! 

Q: What do you wish other people would know about your child’s birth defect?
A: I wish that other parents and children/adults can see that differences are good, they are beautiful and my daughter is completely able!

Q: In what ways has your child inspired you?
A: There aren’t enough words to explain or write down how Sage has inspired me. She has taught me so much already in life, with her being only 3 months old. I have become more aware of my language, I have educated myself (and continue to do so everyday). I am doing my best as her parent to not only guide her, but to bring awareness and to never limit her. She’s a beautiful and amazing person. She truly is the best part of me.

CASE’S STORY

Q: What birth defect does Case have?
A: Basically, around 20 weeks gestation, he was diagnosed with an omphalocele, where his abdominal organs grow outside his body. When he was born, he spent a month in the NICU, came home with a feeding tube and oxygen. He had daily dressing changes and compression of his omphalocele and is now a completely normal 19-month old, besides his belly looking different. He will need a closure surgery and a heart surgery in the future.

Q: What were/are some of the biggest challenges that came with the diagnosis and how does it impact your day-to-day life?
A: Lots of emotions upon diagnosis. Thinking it’s your fault, wondering what you did wrong, all the googling (bad choice, by the way). Lots of ultrasounds, doctor’s appointments during pregnancy. Once they come home, regular doctor’s appointments, sometimes medical equipment, like feeding tubes, oxygen, trachs, etc. Sometimes several surgeries. Medication, medical supplies, dealing with insurances. It’s all physically, emotionally and mentally taxing. Although we wouldn’t wish it on anyone, we also wouldn’t change our kids for anything. 

Q: What do you wish other people would know about your child’s birth defect?
A: The main feedback I got from my crowdsourcing was that moms wished that people would just ask instead of stare, whisper, point etc. Most of us, myself especially, love educating people on our kids’ birth defects and I would love it if someone would come up and ask (nicely of course) about him. I could provide a couple alternative things to ask besides “What’s wrong with him?” I know most people mean well and just don’t know what to say, so they don’t say anything. Even just telling a mother you see out and about with a special needs child that she’s doing a good job. It’s hard taking kids with medical equipment or disabilities out in public, and it’s nice to have someone notice how hard we’re working and not just stare.

Q: In what ways has your child inspired you?
A: People say that my son is lucky to have me, but it’s the other way around. He has made me a better, stronger person and I truly believe that I was meant to be his mom.

$500 gift card recipients 

Also, for this month Kyte BABY has chosen three families to gift $500 Kyte BABY gift cards to: 

Victoria Godfrey, who’s son has has 21q21 deletion syndrome. He also has MDS which is a type of cancer that turns to AML.

Faith Joblonski, who’s youngest child was born with multiple defects including, a heart defect, cleft lip, and vision and hearing issues.

Finlee Messer, Finlee was born with a rare genetic condition called Treacher Collins Syndrome.