Micaela, was born in June of 2015 (at 36 weeks gestation). She was born by planned caesarean (which is very common in Brazil) because her mother had two previous caesarean’s. Micaela had difficulty with breastfeeding at first, but soon she learned.
At around six months, she started showing development delay: did not smile or sit, did not interact, had eating issues, and sleep was always a problem (hard to get to sleep and easy to wake up). She also had small seizures that looked like a "Shock."
She started eating soft food at 1 year (one of her greatest difficulties was the introduction of food), walking at 19 months, and still in 2019 hadn’t spoken yet. She used to have a static look multiple times a day, in a strange way, because when she "thinks;" her eyes "open;" a little bit as a funny look. She just started to hold her own bottle with the age of three and started making some real “progress” at the end of 2018.
As she looks perfectly healthy, we experienced a lot of indifference by everyone. All clinical exams (physical, ECG, blood, karyotype) looked "ok" and "average," so even the diagnosis was hard to get, and only came after full exome sequencing.
The doctors suspected possible brain damage, Autism, and Rett Syndrome. One Pediatrician even told us she had nothing wrong with her.
We are thankful that God heard our prayers and soon we got the results of the Exome. We felt a calmness and relief that we now had answers. The most traumatic experience for a parent is knowing your child has something wrong, but no one tells you what it is. Everybody says, "It's ok, she's just a late bloomer" and then they give an example of a friend of a friend who knows someone whose child also had development delay.
We put her in all therapies suggested for her difficulties (physical therapy, occupational therapy and speech therapy). The Brazilian doctors have never heard of this disease, and for the moment, they say that she should be doing the therapies she already does. She had epilepsy crisis Tonic-Generalized (from 22 to 32 months) apparently controlled by Oxcarbazepina + KEPPRA. Since 2018 she started to go to a recreation school to get more stimulation and contact with other children, since her siblings are much older. We feel she started interacting a lot more just a few weeks she has been attending school.
Main characteristics of Micaela (when she was 3 years old):
Personal characteristics:
One thing that is very funny about her is her routine with specific things (her place in the car) and doors and drawers. Do not sit in my place, do not let any door of my house, do not let any drawer open, ever, though: Unless you want to DIE!!! LOL
The institution that provides treatment is called APAE, which stands for, Association of Parents and Friends of Exceptional www.apae.com.br in case someone would know more or even support.
At around six months, she started showing development delay: did not smile or sit, did not interact, had eating issues, and sleep was always a problem (hard to get to sleep and easy to wake up). She also had small seizures that looked like a "Shock."
She started eating soft food at 1 year (one of her greatest difficulties was the introduction of food), walking at 19 months, and still in 2019 hadn’t spoken yet. She used to have a static look multiple times a day, in a strange way, because when she "thinks;" her eyes "open;" a little bit as a funny look. She just started to hold her own bottle with the age of three and started making some real “progress” at the end of 2018.
As she looks perfectly healthy, we experienced a lot of indifference by everyone. All clinical exams (physical, ECG, blood, karyotype) looked "ok" and "average," so even the diagnosis was hard to get, and only came after full exome sequencing.
The doctors suspected possible brain damage, Autism, and Rett Syndrome. One Pediatrician even told us she had nothing wrong with her.
We are thankful that God heard our prayers and soon we got the results of the Exome. We felt a calmness and relief that we now had answers. The most traumatic experience for a parent is knowing your child has something wrong, but no one tells you what it is. Everybody says, "It's ok, she's just a late bloomer" and then they give an example of a friend of a friend who knows someone whose child also had development delay.
We put her in all therapies suggested for her difficulties (physical therapy, occupational therapy and speech therapy). The Brazilian doctors have never heard of this disease, and for the moment, they say that she should be doing the therapies she already does. She had epilepsy crisis Tonic-Generalized (from 22 to 32 months) apparently controlled by Oxcarbazepina + KEPPRA. Since 2018 she started to go to a recreation school to get more stimulation and contact with other children, since her siblings are much older. We feel she started interacting a lot more just a few weeks she has been attending school.
Main characteristics of Micaela (when she was 3 years old):
- Global development delay
- Absence Seizures - disconnects from the world for seconds, then comes back followed by a fall (thank god the seizures are very rare!)
- Gait abnormalities - walked like a robot but know she’s improved
- Does not talk – speaks only unintelligible words (bla, dah, eh)
- Loves singing! (in her own way, a lot of times in tune!)
- Difficult to get to sleep (takes Melatonin to help)
- Inconsolable crying spells (stopped for a while)
- Started to eat “solid” foods but very selective (bread, rice, potatoes, but nothing too hard)
- Learns things with difficulty, but soon forgets
- Waves good-bye sometimes, send kisses
- Recognizes people and smiles
- Does not like physical contact (she avoids)
- Loud sound sensible
- "Nervous tic” - pulls her hair (circle fingers on the head or eats her hair, “tics” with her hands, walks in circles, etc.)
- Would not wear any kind of shoes until 18 months (but now she ‘allows’ us!)
- Used to bang (softly) the top of her head on the wall (kind of a way to play)
- Dances when listening to music (moving up and down her legs)
- Hates having her teeth brushed, her hair combed and other basic things involving physical touch
- Sensorial Processing Disturbs, which tend to stress her with specific types of clothes, food, shoes, or even going to the beach (she loves, but when in touch with the sand, everything goes away!)
- She hates changing routines, and does not allow us to change some furniture or things from specific "pre-determined" places. When we do so, it annoys her very much, to the point she goes crying, for instance.
Personal characteristics:
- Loves animals
- Loves music
- Happy
- Beautiful smile
- Lots (lots, lots!) of energy
- Angel
One thing that is very funny about her is her routine with specific things (her place in the car) and doors and drawers. Do not sit in my place, do not let any door of my house, do not let any drawer open, ever, though: Unless you want to DIE!!! LOL
The institution that provides treatment is called APAE, which stands for, Association of Parents and Friends of Exceptional www.apae.com.br in case someone would know more or even support.