Ria's story (Born 2011)
Maria "Ria" Azelie is the third of four children, with an older brother JP, an older sister I lost to miscarriage, and a younger brother Justyn. She was born full term at 38 weeks (and super fast) in June 2011. She weighed 6lbs 12oz and was 21in long. Her dad and I thought her facial features were unique and that she didn't favor either one of us much at birth. She has a very pleasant disposition. And she has a smile that lights up the room!!! All who meet her fall in love with her. She has blessed me as her mom, in numerous ways… my life is much more enriched with her in it.
MEDICAL ISSUES
Eczema - major eczema on her eyelids at birth. She now has eczema on her lips and occasionally on her armpits, arms, 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. At 9yrs old, it is almost completely gone.
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 paediatrician saw no reason for concern but her new paediatrician 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 is on daily Lactulose which has helped a lot.
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!!! She still takes Keppra daily.
Developmental delays - she began receiving 7xs/month at-home therapies in our county run Help Me Grow program, receiving speech therapy, OT, and music therapy. She attended public schools PreK through 2nd grade and requires a personal one-on-one aid at all times. In school she’s received weekly OT and speech therapy. I am hoping to place her in ABA therapy soon.
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 anaesthesia 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 for her behaviours would result in “autism spectrum” result, 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 Autism Spectrum Disorder (ASD) following many hours of testing and assessment at the NCH Behavioural 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 9yrs old she still comfortably wears some size 4T-5T clothing. She’s shorter and weighs less than her 6yr old brother. Her hands have been smaller than her younger brother’s for years.
Dental - At 9yrs old she still has all her baby teeth. Her top two and bottom two middle teeth are slightly loose. I’m hoping they come out and will not require extraction, as often seems the case with NCBRS.
BEHAVIOURAL ISSUES
Toileting - she’s still in diapers at 9yrs old. Due to her intellectual disability, I do not see this changing. However, after learning more about ABA therapy… I’m hopeful it may! She’ll go in phases of removing her clothing and diaper and spreading feces 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. She is a constant fountain of energy and is almost always on the move when awake.
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). She said “momma” and “daddy” once in her whole life, in February 2017 — it was AMAZING!!! At one time she would sing “Twinkle Twinkle Little Star” and a Jesus song repeatedly. Over a period of months, most all of that went away. She hasn’t uttered a ”real” word in the last few years. She’s almost completely silent all the time. The exception being a phrase she repeats when she's happy “a-sis-sis-sisss, awaaaay, awaaaay”.
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. My gut says she has significant intellectual disability… but she’s making some progress. One gift of this, is that when her dad abandoned her (4yrs old), her brothers, and myself - she had no clue about this family dynamic shift (only sensed the stress of family members). Also… a little bit of hope out there… if you are a single parent with a special needs child, it is HARD, but you can do it!!!
Being engaged with others - Ria is in her own world most of the time. Around 4yrs old she began to engage with her family (playing chase and some eye contact). She also began being more affectionate by sitting next to family and sometimes giving kisses. She has not been overly affectionate for years now, except when feeling ill - she’ll cuddle with her mom. She’s does bond well with others though - her favourite people include her maternal grandfather “Popo”, her school aids Heidi and Ashley, and mommy's best friend Mark, and his ever-cold water tumbler.
OCD - too many of one thing overwhelms her. Her baby gate in her doorway MUST remain closed/locked or she’ll have a full-blown tantrum. She likes to flick light switches obsessively. Her most obvious obsession is walking around (forward, backwards, or on her knees) with two small plastic figurines AT ALL TIMES. She’s had one fish toy she’s had in one hand for nearly a year… she even sleeps with a grip on it! She used to tear paper and put pieces in tiny places, like floor vents. And she used to destroy all order - like books, DVDs, pillows, made beds, any kind of “order”. These two latter behaviours have thankfully disappeared the last two years.
Pica - Ria has compulsively eaten many bad things: bugs, rocks, sticks, leaves, carpet fibres, clothing threads, and even a bottle cap ring (resulting in an ER visit). This goes in phases of about 6-9mo, where she’ll do it, then not, then do it, and so on.
The above is a list of issues I thought other parents may find helpful. You’re not alone! And there is hope for progress! I’m especially excited to see how she progresses with ABA therapy. I will keep you posted.
Ria is truly a delight. Her favourite thing to do is swing!!! She loves to be twirled around, loves music, especially loud music, and holding those two small figurines. She also enjoys chase, dancing, eating pizza, and riding the bus. 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 2yrs old 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.
