By Niki Junker, a Chromosome 18 parent:
Day 1:
February 29 is Rare Diseases and Disorders Day. For the next 18 days, I will be sharing parts of Lili’s story in order to raise awareness. I hope you read each day and choose to participate by wearing zebra stripes to show support for those who are RARE.
There are over 7,000 known rare diseases that affect approximately 400 million people worldwide. 80% of these diseases have genetic origins and 50% affect children.
My Lilian Rejoice has a rare genetic disorder called 18q Deletion Syndrome (18q-). She was officially diagnosed in October 2023 but this has been a journey since before she was born. Born 6 weeks early, she was small and had problems breathing on her own, keeping her body temperature regulated, and moving her arms and legs. She was born through an emergency c-section because her heart rate was very low and she was not breathing in the womb. Before that moment, Lili also didn’t move as she should’ve and her heart rate was always concerning. The doctor said she would be safer out of the womb than inside.
This is where her story begins…
Day 2: This is a long one…
Proximal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. Individuals with proximal 18q deletion syndrome have a wide variety of signs and symptoms. Because only a small number of people are known to have this type of deletion, it can be difficult to determine which features should be considered characteristic of the disorder.
Signs: delayed development of skills such as sitting, crawling, walking, and speaking, and intellectual disability that can range from mild to severe. In particular, vocabulary and the production of speech (expressive language skills) may be delayed. Recurrent seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this disorder. Affected individuals also frequently have neurodevelopmental disorders such as hyperactivity, aggression, and autism spectrum disorder that affect communication and social interaction.
Lili spent a little time in the NICU. Once she came home and we had a chance to settle in, questions began to arise. When she was about 10 days old, I noticed something looked different with her head and eyes. I also began to noticed she felt stiff and tight. She didn’t stretch much like other newborns and needed to pull her little legs down when I changed her. The doctor said we’d watch her and was hopeful it was just a premie thing.
By two months old, Lili wasn’t moving much on her left side. She was turning her head or stretching to the left. Eventually, she was diagnosed with infant torticollis, beet common, and sent to PT. For the next three months, we worked on her movement and found she had hypotonia in her hips, left arm, and neck. I was told we might be seeing signs of cerebral palsy from a stroke.
This is when I began to advocate for more help and our family doctor was amazing at helping me find answers.
Day 3:
The most common findings of 18q Deletion syndrome, which has a wide phenotype, are a characteristic facial appearance. There may also be skull malformations.
Lili looks “different” than other kids. She has mid facial hypoplasia which is also related to her hearing loss and poor eyesight. At one month old, I noticed Lili’s head shape was looking very different. Since she was a premie, I was told it wasn’t unusual to see her like this since she was technically not done with her prenatal growth.
This picture is when I knew something was not right and began asking questions. Her head was becoming elongated making me wonder what was happening. She was my third baby and this was different.
Day 4:
What are Microtia and Atresia? Microtia is the absence of an ear or an underdeveloped outer ear. Atresia is hearing loss due to the absence (or severe narrowing) of an ear canal.
At 9 months old, Lili wasn’t even babbling. At a year, she said Dada. By 18 months she was speech because she had a 3-word vocabulary.
At 18 months, Lili had a hearing test and failed. We went to UK, where she failed again. With more testing, we discovered and had hearing 90% loss on both sides. My baby was deaf. We went for a special test and found out her inner ear hearing was perfect but it was the atresia (ear canal stenosis) causing the issues.
Lili is still in speech and her vocabulary has really exploded since then but she still has major hearing loss in her left ear and mild loss in her right ear. Her ears are only grade 1 mocrotia, so mild, but they’ve never grown larger. They are the same size now as they were when she was just days old. Ahe has itty bitty ears.
These are also common factors for 18q-.
Day 5:
When Lili was not walking by 18 months, my worry was evident. She wasn’t talking much and had a vocabulary of 3 words, and even those were a struggle. She had started speech and her verbalizing was getting better but still no words. She also had struggles to feed herself with her fingers and certainly couldn’t hold a utensil.
Our family doctor listened, and she paid attention. She started testing Lili for Autism Spectrum Disorder because she was so behind. At that point, we both agreed with what we were seeing. Lili had also been in OT and PT for a long time and still very little balance and no walking was happening. So, we were referred to Shriners orthopedics and UK Pediatric Neurology.
With neurology, Lili was sent for a series of MRIs where the doctor discovered she had a larger skull and more brain fluid than other babies her age. I knew her head was bigger but I just didn’t realize what that meant. Her brain size was nearly normal but still on the smaller side.
What did that mean?
Watch and wait. It could be something in a few months or it could correct itself. This was also the first time anyone had mentioned her facial features to me. I saw it but this doctor was the first to point it out. “She has midface hypoplasia. Did you know that? It’s a condition usually caused by a genetic malformity.”
Shriners then did a serious of hip and leg x-rays to see what issues could be there. And, they found Lili had extra bone growth in her left hip preventing her from correctly flexing at the hip and causing her to be “lopsided.”
Finally, I felt like I was starting to get answers but I was asking more questions.
Day 6:
Individuals with the 18q deletion syndrome are presented with various clinical characteristics, including cardiac anomalies in 24-36% of the reported cases.
18q- is rare. 1:55,000 births worldwide (not just the US). Of these babies, only about 1/3 have heart defects. Lili is a part of that even smaller group.
When she was discharged from the NICU, within 24 hours she had her first appointment with her pediatrician. The doctor was so delicate and cautious with my little 5 pound preemie and as she was listening to her heart, she looked at me. I knew she was immediately concerned. “Did they mention her heart beat to you in the NICU?” I held my breath.
Within 3 weeks, we were in for a cardiac ultrasound. Because of COVID, I had to do all of this alone. It was scary. Thankfully, I knew the man doing the ultrasound and he was so kind and gentle. There, we discovered Lili had two small holes in her heart and her left ventricle wasn’t closing completely. The results were sent straight to her doctor for review.
She told me this was definitely a “watch and see” situation but she believed it was something Lilian could outgrow. So, the doctor gave me her personal cell number in case I saw changes and scheduled to see her every three months.
For the next 3 years, Lili had a cardiac ultrasound every 6 months. At her last ultrasound in October, just after her 3rd birthday, both holes had closed and she had just a minor murmur.
Praise God! I cried a little with relief that my baby didn’t have “one more thing” added to her.
In 3 1/2 years, Lili has seen more doctors and had more appointments than my other two children combined. She isn’t afraid of hospitals or new offices. The one place she hates, however, is the audiologist…but that’s for a different day.
Day 7:
This one is vulnerable…
Having a chromosome 18 condition does not mean that a person will definitely have autism; however, it does increase the likelihood of a diagnosis. It is likely that extra or missing copies of one or more genes on chromosome 18 can lead to the changes in neurologic functioning that is characteristic of autism. In other words, a chromosome 18 change can cause autism, just as it can cause visible birth defects.
Lili has been diagnosed with Autism Spectrum Disorder. She is such a happy girl most of the time and I love watching her discover things around her. She is an absolute genius with letters, numbers, and colors and I love it. Her favorite toys are stacking types and she enjoys most music. She thinks being in a blanket fort is hilarious and playing on her iPad is so much fun. She loves balls and her favorite color is yellow. She has a new love for hair bows and asks for one every day.
But, she also has texture and pallet issue, does not enjoy too much noise or too many people, needs her space and alone time, doesn’t like to talked to when she’s into one of her favorite things or shows, can become aggressive (with only me) when she can’t communicate her needs, and will scream at the top of her lungs for several minutes when she’s frustrated.
I can handle the medical needs. I do well with the dozens of doctors appointments and do them alone most of the time. I can deal with her screaming when she frustrated. I have no problem when she needs her alone time or specific toys or shows. These are just part of how she enjoys life.
What does hurt me, though, is her aggression towards me. I’m the one she hits. I’m the one she bites. I’m the one she kicks. I’m the one she pushes away. She yells for Daddy when she’s done with me. And, it breaks my heart. As a mother, I want to make sure she’s happy. As her mother, sometimes I’m the one who makes her unhappy.
She is such a blessing and such a joy for me and our family. I would never change one thing about her. As a special needs mom, I want to make sure I change everything for her.
Sometimes, though, being a special needs mom, can be so very lonely and heartbreaking. There is another side to 18q- and that’s this side. It’s not easy. It’s heavy. It can hurt. It’s lonely.
Day 8:
Mark your calendars for 2/29
Just like human fingerprints, no two zebra stripes are the same, although each of the three species of zebra have the same general stripe patterns.
18q- is a zebra syndrome/disorder. You will never find two people with 18q having the same symptoms. Although there are similarities, just like zebras, the patterns are never going to be exactly the same.
Lili is a zebra and I find that fascinating. She is beautiful and wild and happy and natural. She loves her family and is so friendly wherever we are, always saying “hi” as people pass by.
There are more severe cases of 18q and those less severe than Lili. With 18q, there is no “normal” just possibilities.
February 29 is Rare Diseases and Disorders Day. Please consider wearing zebra stripes for Lilian and those living with being rare. She is 1:55,000 worldwide.
Day 9:
Most people with distal 18q deletion syndrome have neurological problems, although it is unclear to what extent these problems are related to the dysmyelination. These problems include delayed development, learning disabilities, and intellectual disability that can range from mild to severe.
Development delay…those words are scary. Lili is the third child and the baby of the family. She has never met age appropriate milestones and it is expected that she never will.
She didn’t hold her bottle at a few months old, she was more than 6 months old. She didn’t roll over until she was 8 months old. She didn’t sit alone unassisted until she was nearly a year old. She didn’t crawl until she was almost 18 months old. She didn’t walk until she was 22 months old. She has only recently been able to use a fork and she still can’t correctly use a spoon. She does very well at hand-feeding and she loves to use crayons on paper. She has great finger control for her iPad and loves to stack everything. She is nowhere close to potty training and that’s not something I can force. She cannot put her clothes on by herself or her shoes but she can tell me “no” or “ok” when I’m doing it for her and she will tell me she needs her shoes when she knows we’re going somewhere.
Lili is 3 1/2 and is more in the range of 18-24 months. She knows her colors, numbers to 20, all her letters, and can recognize some words. She knows what two colors can combine to make another color, what adding is, and how many items she has. She loves to count everything and spell any word she sees.
It may sound strange to think of all the things Lili hasn’t done yet, but it is so amazing to watch all the things she can do.
Lilian may be behind in a lot of areas but she’s ahead in a few areas. I’ll take that as a win every time. The pictures shared are some the “firsts.”
Her first time going out on Halloween, her first time opening her presents alone on her 3rd birthday, her first time sitting in a little kid chair, her first sitting in a doctors chair alone.
As my mom says, “That just means we get to enjoy her as a baby a little longer.”
Day 10:
Just to piggyback off yesterday’s post, Lili was 17 months old in this video. She was sitting on her own but there was a pillow behind her to help with balance. She was also not playing like a typical 17 month old should. Peep eye is a game babies learn fairly quickly but she hadn’t. Now, at 3 1/2, she does it well but she’s only been doing it well for about 6 months. Old videos remind me how precious and sweet my little zebra baby is and how very blessed I am she is mine.
Please wear zebra stripes February 29 to bring awareness for zebra kids and to show support for those living, loving, and thriving with rare disorders.
Day 11:
2/29…wear your stripes
The 18q-syndrome is associated with hearing impairment in 50-80 per cent of cases. The hearing loss may be sensorineural or conductive.
I’ve spoken openly about Lili’s hearing loss. She has had 90% loss on both sides and this is why her language is has been so limited. Her hearing loss is conductive loss, which means her bones and cochlea are healthy but the sound cannot reach her ear drum due to her tiny canals.
In April of 2023, after months of testing and working with insurance, Lili was finally fitted with her bilateral BAHA system.
You know those videos of babies hearing for the time and how sweet they are? The tears they cry when they hear their mommies voices clearly for the time? The hugs and the smiles? Yeah. That wasn’t us.
Lili hated her hearing aids. Hated. Them. The sudden sense of hearing was too much for her and she couldn’t handle it. There were tears, from her and me, but not in the heartwarming way.
I’ve tried for a year. I’ve worked for a year. I’ve prayed for a year. I’ve begged for a year. She has been so traumatized by her hearing aids that when we walk into the audiology office, she immediately starts repeating, “nope nope nope” and tries to leave. It’s awful.
In January this year, we went back. She has been really ”talking” a lot more and her 1 and 2 words sentences have grown to a lot of 3-word phrases and a couple of 4-word sentences. That’s a huge jump for her. I told the doctor I thought her hearing was improving, which can happen as she grows if her canals open some.
When she was tested, we discovered that I was right, and wrong.
Lili’s right ear canal had grown! Yay! Her hearing loss was just 35%! Amazing! Her left, of course, had not and she is still 90-95% loss on that side.
That’s part of 18q-. Nothing is “normal” nothing is really mapped because every single case is different.
Lili does have more hearing on her right and I am absolutely using that. I talk to her more on her right. I sing to her on her right. I let her lead when she hears sound to her right.
Part of any different ability is allowing the person to learn their abilities and the caretaker learn the person. I am soaking in learning Lili.
And, as off as it may sound to those not living in this rare world with Lili, I feel so blessed that I get to be a part of all these different spaces she occupies.
Hard of Hearing
Autism Spectrum Disorder
Speech
Occupational Therapy
Physical Therapy
All of these communities are so unique and offer my daughter a world where she is loved, equal, and accepted.
Day 12:
18q- babies almost always have speech issues.
91% have speech problems
32% articulation
17% non-verbal
18% delayed speech development
7% apraxia
26% not-specified
Want to guess where Lili is on this list? Lili falls under every single one of these. Apraxia was discovered in December of 2023. She is no longer considered non-verbal because the little lady talks all the time. She may have echolalia which falls under the 26% but in the 7% category, we’re still trying to figure out what is best.
Someone with AOS has trouble saying what he or she wants to say correctly and consistently. AOS is a neurological disorder that affects the brain pathways involved in planning the sequence of movements involved in producing speech. This also means she will be inconsistent with her speech and words sounds. For example, sometime she calls me ”mom” but other times she calls me “nom.” She also almost never has ending sounds to her words but those same sounds might happen at the beginning of a word. It’s just not consistent misplacement of sounds.
Apraxia can’t be “fixed” but children can learn to speak quite well and be intelligible. It will be a constant work in progress and Lili will be in speech and working on her speech for a very long time. But, she has the sweetest little voice and the best laugh. I love the conversations we have even when I have no idea what she’s saying. Talking with her and listening to her help motivate her to listen and practice her speech, so I do it absolutely all the time.
People with speech issues aren’t less intelligent. They shouldn’t feel embarrassed and made to be quiet. The only thing that needs to change is how we all interact and to have patience and a willingness to listen for the communication.
Day 14:
Patients with 18q deletions frequently suffer from autoimmune disorders, recurrent infections, and allergy due to immune dysregulation presenting with variable antibody deficiencies and T-regulatory cell deficiency.
Lili can get sick fairly easily and usually out of nowhere. It’s commonly just a little cold and a low-grade fever. She has had some very rough sicknesses with high fevers but her doctor understands and never makes me ”wait and see” if she gets better.
In January, we had a visit with a new specialist (Endocrinology) to check on her immune system, autoimmune issues, and growth. At this moment, she is mostly normal with her levels and that is such a praise. That doesn’t mean she will always be like this but it does mean that for right now her system is able to regulate itself without help.
Day 15: 2/29 Rare Disease/Disorders Day…wear your 
stripes!
stripes!One of the challenges Lili faces is her hearing. I’ve openly spoken about it several times, and through this series I’ve mentioned it, but there are so many different facets and levels. Lili’s ASD also provides another layer to her hearing issues.
When sounds become too much or she becomes over stimulated, Lili grabs her her ears and covers them. I spent a lot time worrying she had infections. Then, I spent a lot of time convincing myself she could hear and everything was too loud. In March of 2022, that all changed when she failed her hearing test, again, and she was finally sent to an audiologist.
When I realized she couldn’t hear, I didn’t know why she was grabbing her head. As I began to learn more about her hearing loss, it took another year and half before she was officially diagnosed with 18q-.
Once all her doctors joined her team and her files were shared, everyone agreed she displayed signs of ASD and her head-grabbing was her protection. She was already learning how to handle her overstimulation with warning signs. She also grabs her ears when she’s happy and doesn’t know what to do. Specifically, I look at her facial expressions to determine if she’s enjoying what’s going on or if she needs to be given a break from things around her.
ASD is a part of 18q. Not all, but a large number of kids with 18q will be diagnosed with ASD.