18q Deletion Syndrome
We don’t know much about Noella’s condition and what we do know is based on limited research/information. I wanted to write out a full post of what we know as it pertains to our girlie, and be honest with how this journey has impacted us so far.
According to the National Organization for Rare Disorders (NORD), 18q Deletion Syndrome is a rare chromosomal disorder in which there is a deletion in part of the long arm (q) of chromosome 18. The Genetics Home Reference states that the disorder occurs in an estimated 1 in every 55,000 newborns.
Unique and NORD write about the various “symptoms” children with 18q Deletion Syndrome experience. I want to walk you through how we have watched Noella experience them.
Issues with Thyroid
At 2 weeks old Noella was diagnosed with congenital hypothyroidism, I wrote a blog post about that when she was around 6 months old, and I’ll link it here. Essentially she has been on medication to boost her thyroid production since she was two weeks old. We have done blood draws every three months, and adjusted her medication dosage accordingly. At this point, her endocrinologist anticipates we will be able to wean her off around her 3rd birthday, as her levels have been doing so well! Her issues with her thyroid aren’t as overwhelming as they once were. She can even chew/swallow the pills on her own!
Issues with Cleft Palate
Cleft lip/palate are reportedly more common in babies with this disorder. Noella wasn’t born with a cleft palate, but early on we noticed that her uvula looked different. It shapes into almost a double uvula, or called bifid uvula. Her condition isn’t as noticeable as some images you see on the internet, and fortunately for us it didn’t affect her ability to breastfeed! We are unsure at this point if it will affect her speech and language development.
Delayed Mylenation
When Noella went in for an MRI before she was diagnosed, they found that she had dysmyelination of the brain. The scan showed that there was less myelination in her brain than they would expect to see in a child at her age. According to Unique, this is common for children with 18q Deletion Syndrome and at this point it is not yet clear if or how these changes affect a child’s development, although some children show a slower reaction time.
Skin
Another issue we've had with Noella has been her eczema. There have been nights when she stayed up all night itching, no matter how much lotion we put on her. According to the data 81% of children experience severe eczema, so although this is common in children without a genetic condition, the severity of her eczema could be in response to the deletion.
Kidney Issues
Another common problem children with this disorder experience is issues with their kidneys. Interestingly, the kidneys and inner ear are formed at the same time in utero. Noella was born with an ear tag, and although they said we could have it removed we didn’t feel the need to do so. We are well aware that she was perfectly formed by the hands of the Lord. However, ear tags can be a sign that there are malformations with the kidneys, so Noella is scheduled to get a renal ultrasound done to see if there is anything we have missed in relation to her kidney function.
Hypotonia
Hypotonia is the medical name for poor/low muscle tone. Early on, when we began physical therapy for Noella at 8 months old, her therapist suggested that she had low muscle tone. Her muscles were not as defined or obvious as most kids her age. Despite weakness in her ankles and feet, she is making so much progress in muscle strength! She is initiating walking with her walker alone, and easily pulls to stand and scale furniture which is huge progress. Still, we assume that the weakness in her feet and ankles contributes to her inability to remain standing completely on her own. Her doctor recommended that we meet with an orthopedic doctor to see if there is anything else we can do to help her confidence and strength, and get her closer to walking!
More Testing for Other Symptoms
It is also common for children to experience heart issues, so we are scheduling an EKG to check on her heart. We are also meeting with an audiologist and doing a hearing test to check her hearing and ear canals. Children with this disorder often have narrow ear canals or other hearing issues.
Honestly, this diagnosis has been extremely overwhelming. Even before, as we were trying to figure out why she was experiencing developmental delays, we were seeing doctor after doctor. A neurologist, neurosurgeon, geneticist, PCP, audiologist, orthopedist, physical therapist, occupational therapist, the list goes on and on. And sometimes I remember that this is probably twice as overwhelming for her little self as it is on mom and dad.
She has been so brave in the face of every blood draw, test, and doctors appointment. She continues to be the sweetest girl, even when she's on a stubborn streak. All of these “symptoms” make her exactly who she is. A girl that I know will defy the odds. A girl who will know her Creator and know how loved she is by Him. A girl that will have the endless support and guidance she needs to do whatever she sets her little mind to. I can’t speak to what further delays, or cognitive/intellectual disabilities she might experience. No one truly can, as everyone's deletion and severity is different. Instead of focusing on what we can’t know or control, we are choosing to focus our hearts and eyes on the One who does know. We are choosing to trust in His plan for her and the ways we will all grow through her.
We will continue to share her journey with 18q Deletion Syndrome, and our journey walking by her as her parents, in hopes that another parent will hear us when we say you aren’t alone. Your questions are valid, your fears are valid, your doubt and worry is all valid.
This is just our story, everyone's story will be different. A different hardship, a different doubt, a different diagnosis. But in the face of it all, I want to encourage you to seek out your Maker first and foremost. Before letting the internet/social media control your thinking, or letting doctors tell you what to think and what to believe, lean into His truth first. Keep that at the forefront of your mind. Clinging to my faith has given me the strength to stay standing even when I felt like crumbling into the floor. I just have to remember that I am not in control, Christ alone is.
I don’t share all of this to make a heavy world feel heavier. Let it remind you that just because it feels like the world stopped, doesn’t mean it actually did. And it’s okay for that to feel really confusing. We all have a lot going on in our lives and no matter how many schools/restaurants/businesses close or sports/other events are cancelled, the world is still very much turning. All of the other stuff we were dealing with before the pandemic, still exists. You aren’t alone in feeling heavy or burdened by it all. But I pray you remember you don’t have to feel that way. The Lord wants to take the burdens and the heaviness off your shoulders. The more I have made my self available to Him the past few weeks, the more peace and comfort I have felt. A true peace unlike ever before.
