Daphne came into this world in San Francisco a week beyond her due date, but with a mostly typical birth. Daphne was a happy and social baby, who ate well. However, we saw signs of possible delays with basic milestones like rolling over, crawling, and eventually walking. Given her social and outgoing nature, we didn’t think she was on the Autism spectrum (ASD), so most doctors simply said every kid develops at a different rate. That said, the crawling, walking, and verbal delays had us concerned by the time we hit 18 months.
By year 2, we were in full developmental delay investigation and prevention mode. There had been progress on several fronts – improved “speech” in the form of better babbling, and better use of hands. We were taking advantage of a number of early childhood services, such as Speech, OT, and a great integrative therapy called “Conductiva”.
Physically, when Daphne walked around, it seemed as if she had Cerebral Palsy (CP), specifically a poor gait and holding her arms in a bent (90 degree) and semi-rigid position. The Neurologist notes around 2 yr. 3 mo., stated “unknown etiology.” She suggested both an MRI and genetic testing. We ordered an MRI and some additional testing, both of which came back normal and typical. This ruled out CP and other possible sources of a delay, however, it also meant we did not what was causing the delays. And the genetics team at Stanford could not do much without a genetic sequencing test, a very expensive option at the time, given that insurance wouldn’t cover it. So, we decided to hold-off on the genetic test a bit longer. In that time, we decided to switch neurologists and, by pure chance, our new neurologist had a strong relationship with a genetic testing service that ultimately allowed us to get a no fee exome sequencing for our daughter. It was a lucky gift that we’ll just have to pay forward.
Ironically, after the long journey to exome sequencing that revealed a KCNB1 mutation, there was very little that the geneticists or neurologists could actually tell us or give us that might improve our efforts to help Daphne. The gene and its related mutation are not well understood, so parents are left to treat the symptoms, but trying to address root causes. Daphne has always thought of herself as verbal. The “talker” never worked for her even at a young age (pre-K) and she has made good progress with words and concepts (though nothing
abstract). At age 8, she still is developmentally closer to 3-3.5 year old (in some ways less). She still can’t count to 10 on her own, though, if prompted, she can say most of the numbers (3 is quite hard). She lacks the attention to get dressed on her own and still gets confused about putting on pants or shorts and will often put two legs in the same space. She can put on her own shirt, but doesn’t know front from back.
We’ve been lucky to have a good support system in school and she is making progress, albeit very slow. She is in a learning center class with moderate to severe kids and is the most verbal one in the class. We do as much OT, Speech Therapy, and Hippotherapy as we can. We’d love to add PT as well. And we put her in as many sports as we can – soccer and gymnastics – geared for special needs kids.
Daphne can’t be left alone very long (less than a minute) unless you’re at the park. She’ll find trouble before it finds you. I think of her as always in motion, or always needing to move. Dog walks and parks are our friend. She can pay attention to tasks on her own for as long as 15-20 minutes, but that is rare. If working in a directed or supported fashion, she can much more easily stay involved in a task. Evening walks when it’s dark with the dog are great because there are so few distractions that she’ll actually move forward and ask questions – “what is that” or make observation “ohh . . l. ook at that.” She can’t grasp time very well, but she does remember big events from the past (say going to a lake for a week). That said, if you ask her about her day at school, you’ll get nothing. And if you manage to pry something out (say – did you have speech with X today). You may hear "Yes" only to later find out it was "No." Some things have to be double verified.
Overall, Daphne is a very happy girl who loves spending time with her younger sister, walking our Golden Retriever, and running free at the park. We’d do more horseback riding, if we could, but she still requires a lot of support (3-4 additional people around the horse).
Daphne’s Clinical Indications:
Some interesting things about Daphne:
By year 2, we were in full developmental delay investigation and prevention mode. There had been progress on several fronts – improved “speech” in the form of better babbling, and better use of hands. We were taking advantage of a number of early childhood services, such as Speech, OT, and a great integrative therapy called “Conductiva”.
Physically, when Daphne walked around, it seemed as if she had Cerebral Palsy (CP), specifically a poor gait and holding her arms in a bent (90 degree) and semi-rigid position. The Neurologist notes around 2 yr. 3 mo., stated “unknown etiology.” She suggested both an MRI and genetic testing. We ordered an MRI and some additional testing, both of which came back normal and typical. This ruled out CP and other possible sources of a delay, however, it also meant we did not what was causing the delays. And the genetics team at Stanford could not do much without a genetic sequencing test, a very expensive option at the time, given that insurance wouldn’t cover it. So, we decided to hold-off on the genetic test a bit longer. In that time, we decided to switch neurologists and, by pure chance, our new neurologist had a strong relationship with a genetic testing service that ultimately allowed us to get a no fee exome sequencing for our daughter. It was a lucky gift that we’ll just have to pay forward.
Ironically, after the long journey to exome sequencing that revealed a KCNB1 mutation, there was very little that the geneticists or neurologists could actually tell us or give us that might improve our efforts to help Daphne. The gene and its related mutation are not well understood, so parents are left to treat the symptoms, but trying to address root causes. Daphne has always thought of herself as verbal. The “talker” never worked for her even at a young age (pre-K) and she has made good progress with words and concepts (though nothing
abstract). At age 8, she still is developmentally closer to 3-3.5 year old (in some ways less). She still can’t count to 10 on her own, though, if prompted, she can say most of the numbers (3 is quite hard). She lacks the attention to get dressed on her own and still gets confused about putting on pants or shorts and will often put two legs in the same space. She can put on her own shirt, but doesn’t know front from back.
We’ve been lucky to have a good support system in school and she is making progress, albeit very slow. She is in a learning center class with moderate to severe kids and is the most verbal one in the class. We do as much OT, Speech Therapy, and Hippotherapy as we can. We’d love to add PT as well. And we put her in as many sports as we can – soccer and gymnastics – geared for special needs kids.
Daphne can’t be left alone very long (less than a minute) unless you’re at the park. She’ll find trouble before it finds you. I think of her as always in motion, or always needing to move. Dog walks and parks are our friend. She can pay attention to tasks on her own for as long as 15-20 minutes, but that is rare. If working in a directed or supported fashion, she can much more easily stay involved in a task. Evening walks when it’s dark with the dog are great because there are so few distractions that she’ll actually move forward and ask questions – “what is that” or make observation “ohh . . l. ook at that.” She can’t grasp time very well, but she does remember big events from the past (say going to a lake for a week). That said, if you ask her about her day at school, you’ll get nothing. And if you manage to pry something out (say – did you have speech with X today). You may hear "Yes" only to later find out it was "No." Some things have to be double verified.
Overall, Daphne is a very happy girl who loves spending time with her younger sister, walking our Golden Retriever, and running free at the park. We’d do more horseback riding, if we could, but she still requires a lot of support (3-4 additional people around the horse).
Daphne’s Clinical Indications:
- Global Developmental Delay
- Low muscle tone (Hypotonia)
- Fine and gross motor delays
- Intellectual Disability
- Speech Apraxia (a motor speech disorder)
Some interesting things about Daphne:
- Cheerfully says “hi” to anybody in her range of vision, often startling strangers, but ultimately bringing out a smile in them since she genuinely smiles at everybody. She usually says “bye” as well.
- Loves to collect random assortments of things in bags – it’s her way of creating order.
- Eats many foods and is frequently accused of having a hollow leg given her propensity to eat 3-4 bowls of “anything” in one sitting.
- Needs a lot of physical sensory input – but luckily loves to be tickled.
- Is easily distracted and can rarely focus on any one task for very long.
- Tends to talk on the louder side, expressing herself in bursts of energy.
- Can get frustrated and angry about her inability to accomplish a task or express what she wants. This frequently results in loud protestations and occasionally the words “I can't do it" or sometimes just a scream.