Story submitted - 2020
Maria "Ria" Azelie is the third of four children, with an older brother, an older sister I lost to miscarriage, and a younger brother. She was born full term at 38 weeks (and super fast) in June 2011. She weighed 6lbs 12oz and was 21in long. She has a very pleasant disposition and a smile that lights up the room! She is quite frankly "the happiest person I know". All who meet her fall in love with her. She has blessed me as her mom, in numerous ways… my life is better with her in it.
Maria "Ria" Azelie is the third of four children, with an older brother, an older sister I lost to miscarriage, and a younger brother. She was born full term at 38 weeks (and super fast) in June 2011. She weighed 6lbs 12oz and was 21in long. She has a very pleasant disposition and a smile that lights up the room! She is quite frankly "the happiest person I know". All who meet her fall in love with her. She has blessed me as her mom, in numerous ways… my life is better with her in it.
MEDICAL ISSUES
Eczema - major eczema on her eyelids at birth. She now has eczema on her lips, armpits, arms, back of her knees, ear lobes, and neck. She’s on Triamcinolone Acetonide which works beautifully.
Hemangioma - born with a quarter-sized hemangioma at the base of the front of her neck. It almost completely faded by the time she was 7yrs old.
Jaundice - wore a bilirubin blanket the first week at home.
Umbilical hernia - Ria has an "outie" belly button, which I later learned was an umbilical hernia. Her birth pediatrician saw no reason for concern but her new pediatrician mentioned it may need to be addressed.
Eating challenges - liquid diet from birth to 2.5yrs, under the care of a gastroenterologist. With therapy she was eating “normal” by age 3! At 9yrs old she’s an incredibly picky eater and eats “with her eyes” (if she doesn’t like the way it looks, she’ll push it away). Also, if it is something she does want, she can only have a few in front of her (like chicken nuggets) or she’ll throw them all on the ground. Despite being picky, she eats like a horse! She’ll out-eat both her brothers! She has problems with constipation and we've had to use Lactulose for help. Her favorite thing is peanut butter, straight out of the jar. She also loves yogurt, pizza, apple sauce, bread, goldfish crackers, burgers, cheezits, peanut butter cheese crackers, Aldi protein bars, and Reese cups.
Epilepsy/seizures - at 18mo old, her dad found her having her first seizure. In the following 3mo she had close to 25 seizures. She was diagnosed with epilepsy and put on Keppra to control her seizures. She typically has grand mal cluster seizures, lasting about 1.5mins long. They start early morning, while she's sleeping and she'll fall asleep between them. They typically were 1.5hrs apart. After the third seizure, I'd give her Diastat which would end the clusters but keep her sleepy/dopey most of the rest of the day. Her last seizure was in December of 2017! Which is amazing!!
Developmental delays - she began receiving 7xs/month at-home therapies in our county run Help Me Grow program… speech therapy, OT, and music therapy. She attends public schools PreK through 6th grade and requires a personal one-on-one aid at all times. In school she receives weekly OT and speech therapy. Starting November 2021, she also now receives 8 hours of ABA therapy a week. Game changer!!
Lots of illnesses - Ria was sick A LOT when she was younger. I believe she had a compromised immune system. By 7yrs old (1st grade) she seemed to “grow out of it”. Before this, she was always sickest — had it the longest and the worst — in the family. She missed a lot of school because she was sick.
Lots of hospital visits - from the first ER visit after her first seizure, to after many other seizures (including her Postictal Seizure State - which really scared me until I knew what it was), for EKGs, MRIs, X-rays for constipation, to an infected Thyroglossal Duct Cyst, which included being put under general anesthesia for surgery. Ria has been in the hospital a lot.
Suspected underlying genetics condition - The NCH (Nationwide Children’s Hospital in Columbus, Ohio) genetics team ran a few specific genetics tests on different syndromes she might have, all turning up negative. She was tested for Noonan Syndrome among others. Not until our insurance approved the whole genome sequencing test, did I find out she had NCBRS (fall 2016).
ASD - When talking with others about Ria’s unusual circumstances, before her NCBRS diagnosis, I would just say "Ria is different". I longed to find out what was actually "wrong" and get an answer for all of her challenges. After many Google searches resulted in “autism spectrum”, I questioned autism to her NCH neurologist. Her neurologist referred her to be assessed. {It was odd to me, that with all the countless medical professionals she saw… that not one mentioned autism!} In the fall of 2016, Ria was diagnosed with an Autism Spectrum Disorder (ASD) following many hours of testing and assessment at the NCH Behavioral Health center.
High pain tolerance - she has a very high pain tolerance. Getting shots, IVs, etc nothing hardly phases her. If I clip her nails too short, she just silently opens her mouth wide. So… when Ria is crying in pain I know it’s serious.
Tiny petite little lady - Ria has been off the low end of the charts or in the single digits most of her life. At 12yrs old she still comfortably wears some size 8T clothing. She’s much shorter and weighs less than her 9yr old brother. Her hands have been smaller than her younger brother’s for years.
Dental - At 10yrs old she finally started losing her baby teeth and adult teeth started coming through. Several adult teeth came in "shark style". So far, none have required extraction (as often seems the case with NCBRS) I have been able to pull them after months of patiently wiggling them.
Eczema - major eczema on her eyelids at birth. She now has eczema on her lips, armpits, arms, back of her knees, ear lobes, and neck. She’s on Triamcinolone Acetonide which works beautifully.
Hemangioma - born with a quarter-sized hemangioma at the base of the front of her neck. It almost completely faded by the time she was 7yrs old.
Jaundice - wore a bilirubin blanket the first week at home.
Umbilical hernia - Ria has an "outie" belly button, which I later learned was an umbilical hernia. Her birth pediatrician saw no reason for concern but her new pediatrician mentioned it may need to be addressed.
Eating challenges - liquid diet from birth to 2.5yrs, under the care of a gastroenterologist. With therapy she was eating “normal” by age 3! At 9yrs old she’s an incredibly picky eater and eats “with her eyes” (if she doesn’t like the way it looks, she’ll push it away). Also, if it is something she does want, she can only have a few in front of her (like chicken nuggets) or she’ll throw them all on the ground. Despite being picky, she eats like a horse! She’ll out-eat both her brothers! She has problems with constipation and we've had to use Lactulose for help. Her favorite thing is peanut butter, straight out of the jar. She also loves yogurt, pizza, apple sauce, bread, goldfish crackers, burgers, cheezits, peanut butter cheese crackers, Aldi protein bars, and Reese cups.
Epilepsy/seizures - at 18mo old, her dad found her having her first seizure. In the following 3mo she had close to 25 seizures. She was diagnosed with epilepsy and put on Keppra to control her seizures. She typically has grand mal cluster seizures, lasting about 1.5mins long. They start early morning, while she's sleeping and she'll fall asleep between them. They typically were 1.5hrs apart. After the third seizure, I'd give her Diastat which would end the clusters but keep her sleepy/dopey most of the rest of the day. Her last seizure was in December of 2017! Which is amazing!!
Developmental delays - she began receiving 7xs/month at-home therapies in our county run Help Me Grow program… speech therapy, OT, and music therapy. She attends public schools PreK through 6th grade and requires a personal one-on-one aid at all times. In school she receives weekly OT and speech therapy. Starting November 2021, she also now receives 8 hours of ABA therapy a week. Game changer!!
Lots of illnesses - Ria was sick A LOT when she was younger. I believe she had a compromised immune system. By 7yrs old (1st grade) she seemed to “grow out of it”. Before this, she was always sickest — had it the longest and the worst — in the family. She missed a lot of school because she was sick.
Lots of hospital visits - from the first ER visit after her first seizure, to after many other seizures (including her Postictal Seizure State - which really scared me until I knew what it was), for EKGs, MRIs, X-rays for constipation, to an infected Thyroglossal Duct Cyst, which included being put under general anesthesia for surgery. Ria has been in the hospital a lot.
Suspected underlying genetics condition - The NCH (Nationwide Children’s Hospital in Columbus, Ohio) genetics team ran a few specific genetics tests on different syndromes she might have, all turning up negative. She was tested for Noonan Syndrome among others. Not until our insurance approved the whole genome sequencing test, did I find out she had NCBRS (fall 2016).
ASD - When talking with others about Ria’s unusual circumstances, before her NCBRS diagnosis, I would just say "Ria is different". I longed to find out what was actually "wrong" and get an answer for all of her challenges. After many Google searches resulted in “autism spectrum”, I questioned autism to her NCH neurologist. Her neurologist referred her to be assessed. {It was odd to me, that with all the countless medical professionals she saw… that not one mentioned autism!} In the fall of 2016, Ria was diagnosed with an Autism Spectrum Disorder (ASD) following many hours of testing and assessment at the NCH Behavioral Health center.
High pain tolerance - she has a very high pain tolerance. Getting shots, IVs, etc nothing hardly phases her. If I clip her nails too short, she just silently opens her mouth wide. So… when Ria is crying in pain I know it’s serious.
Tiny petite little lady - Ria has been off the low end of the charts or in the single digits most of her life. At 12yrs old she still comfortably wears some size 8T clothing. She’s much shorter and weighs less than her 9yr old brother. Her hands have been smaller than her younger brother’s for years.
Dental - At 10yrs old she finally started losing her baby teeth and adult teeth started coming through. Several adult teeth came in "shark style". So far, none have required extraction (as often seems the case with NCBRS) I have been able to pull them after months of patiently wiggling them.
BEHAVIORAL ISSUES
Toileting - she’s still in diapers at 12yrs old. Due to her intellectual disability, I did not initially see this changing. However, ABA therapy has given me hope!! She will occasionally go in phases of removing of her clothing and diaper and spreading bm all over her room. To combat this, I dress her in a bodysuit/onesie and place a harness over top… until this phase ends.
Runner - she’s sooo fast and stealthy! Unfortunately, she has no understanding of danger. This resulted in her being carried, strapped into a stroller, or in “Ria-proof rooms” most all her life. HOWEVER a year ago, her school aid taught her how to not run. It was a true life-changing miracle!! Now she pretty much has free reign at home, and I just have to watch her closely when outside. I recently purchased a "wristlet" that attaches to both her wrist and my wrist connected by a coiled wire. This has worked wonderfully - she has freedom - but she's safely within 6-10 feet of me at all times.
Verbal skills - After 7xs/month therapies for 18mos, Ria knew about 10 words and 3 signs. This was at age 3. By age 4 she had completely regressed and lost all words and all signs. We learned this was a side effect of Topamax (secondary seizure medicine). She was taken off. By age 5 she knew about 25 words with appropriate meanings! The words included: “appie”, “horse”, “car”, “bye bye”, “okay”, “no”, ”glasses”, “coffee” and “baby”. She also would repeat the phrase “don’t go away” (I don’t believe she knew what that meant, just something she heard on tv). At one time she would sing “Twinkle Twinkle Little Star”. Over a period of months, most all of that went away. She has not uttered a ”real” word in years… with occasional random exceptions in therapy.
Intellectual disability - Ria is stubborn and sometimes it’s hard to distinguish if she’s being stubborn or is just not getting it. Or a mixture thereof. She’s extremely observant. ABA therapy started in November 2021, after 1.5 years of being on the waiting list. It has worked miracles!!! With both ABA and school intervention, she's learned cause and effect, some pecs communication, made huge gains with her receptive verbal skills, understands routine reward systems, wooden puzzles, stringing beads, and more. This is hands down the most exciting time in her life developmentally!! I could not be more proud of my little sweet pea!
Being engaged with others - Ria was in her own world until around 4yrs old. She then slowly began to engage with her family… then friends… and has made huge social progress ever since. Her favorite people include her maternal grandfather “Popo”, her school aids, and her ABA therapists. She's now very observant to the outside world and other people… and at 12yrs old she is super curious about the world around her, similar to a 2yr old's behavior of discovery… its a beautiful thing to see.
Routine/OCD - too many of one thing overwhelms her. Her baby gate in her doorway MUST remain closed/locked or she’ll have a rare full-blown tantrum. She obsessively likes to throw items… and to put tiny pieces of anything she finds into tiny places, like floor vents. And the little lady thrives in routine.
Pica - Ria has compulsively eaten many bad things: bugs, rocks, sticks, leaves, carpet fibers, clothing threads, and even a bottle cap ring (resulting in an ER visit). This used to go in phases of about 6-9mo, where she’ll do it, then not, then do it, and so on. At 12yrs old she has completely stopped doing this. Yay!!
Toileting - she’s still in diapers at 12yrs old. Due to her intellectual disability, I did not initially see this changing. However, ABA therapy has given me hope!! She will occasionally go in phases of removing of her clothing and diaper and spreading bm all over her room. To combat this, I dress her in a bodysuit/onesie and place a harness over top… until this phase ends.
Runner - she’s sooo fast and stealthy! Unfortunately, she has no understanding of danger. This resulted in her being carried, strapped into a stroller, or in “Ria-proof rooms” most all her life. HOWEVER a year ago, her school aid taught her how to not run. It was a true life-changing miracle!! Now she pretty much has free reign at home, and I just have to watch her closely when outside. I recently purchased a "wristlet" that attaches to both her wrist and my wrist connected by a coiled wire. This has worked wonderfully - she has freedom - but she's safely within 6-10 feet of me at all times.
Verbal skills - After 7xs/month therapies for 18mos, Ria knew about 10 words and 3 signs. This was at age 3. By age 4 she had completely regressed and lost all words and all signs. We learned this was a side effect of Topamax (secondary seizure medicine). She was taken off. By age 5 she knew about 25 words with appropriate meanings! The words included: “appie”, “horse”, “car”, “bye bye”, “okay”, “no”, ”glasses”, “coffee” and “baby”. She also would repeat the phrase “don’t go away” (I don’t believe she knew what that meant, just something she heard on tv). At one time she would sing “Twinkle Twinkle Little Star”. Over a period of months, most all of that went away. She has not uttered a ”real” word in years… with occasional random exceptions in therapy.
Intellectual disability - Ria is stubborn and sometimes it’s hard to distinguish if she’s being stubborn or is just not getting it. Or a mixture thereof. She’s extremely observant. ABA therapy started in November 2021, after 1.5 years of being on the waiting list. It has worked miracles!!! With both ABA and school intervention, she's learned cause and effect, some pecs communication, made huge gains with her receptive verbal skills, understands routine reward systems, wooden puzzles, stringing beads, and more. This is hands down the most exciting time in her life developmentally!! I could not be more proud of my little sweet pea!
Being engaged with others - Ria was in her own world until around 4yrs old. She then slowly began to engage with her family… then friends… and has made huge social progress ever since. Her favorite people include her maternal grandfather “Popo”, her school aids, and her ABA therapists. She's now very observant to the outside world and other people… and at 12yrs old she is super curious about the world around her, similar to a 2yr old's behavior of discovery… its a beautiful thing to see.
Routine/OCD - too many of one thing overwhelms her. Her baby gate in her doorway MUST remain closed/locked or she’ll have a rare full-blown tantrum. She obsessively likes to throw items… and to put tiny pieces of anything she finds into tiny places, like floor vents. And the little lady thrives in routine.
Pica - Ria has compulsively eaten many bad things: bugs, rocks, sticks, leaves, carpet fibers, clothing threads, and even a bottle cap ring (resulting in an ER visit). This used to go in phases of about 6-9mo, where she’ll do it, then not, then do it, and so on. At 12yrs old she has completely stopped doing this. Yay!!
The above is a list of issues I thought other parents may find helpful. You’re not alone! And there is hope for progress!
Ria is truly a delight. Her favorite thing to do is swing!!! She loves to be twirled around, loves music, especially loud music, and colorful musical animations (Rio, Luca, Toy Story, and Elemental) She also enjoys chase, dancing, eating pizza, and riding the bus. Her favorite songs include Twinkle Twinkle Little Star, This Little Light of Mine, Wheels on the Bus, Five Little Monkeys, and anything with lots of repetition. Her favorite color is yellow. She’s very cooperative and content when not hungry/thirsty. She still enjoys when I lightly touch her nose with my finger and make a “bop” sound… I’ve been doing it since she was a baby and it brings that big beautiful smile to her face every time.
Ria is truly a delight. Her favorite thing to do is swing!!! She loves to be twirled around, loves music, especially loud music, and colorful musical animations (Rio, Luca, Toy Story, and Elemental) She also enjoys chase, dancing, eating pizza, and riding the bus. Her favorite songs include Twinkle Twinkle Little Star, This Little Light of Mine, Wheels on the Bus, Five Little Monkeys, and anything with lots of repetition. Her favorite color is yellow. She’s very cooperative and content when not hungry/thirsty. She still enjoys when I lightly touch her nose with my finger and make a “bop” sound… I’ve been doing it since she was a baby and it brings that big beautiful smile to her face every time.
I’d like to end with how GRATEFUL I am to Lee, Michelle, and Helen… all those who started the NCBRS Parent Support website and Facebook group. It has been a game-changer for me. Especially as a single mom - I’m no longer alone! And they speak in terms I understand, with compassion and understanding. I highly encourage you to reach out to the group if your child has been recently diagnosed with NCBRS.
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