Time for an update – cannot believe it’s been over 4 years since we found this group!
Madeline is now a happy 24yo with a job that she ADORES! Using her culinary skills from the transition program, Madeline is a baker’s assistant at Cameron’s Coffee and Chocolate Shop https://every1canwork.com/ She works 5 days a week and gets to take a MetroAccess bus to work.
Madeline also volunteers weekly at our church coffee shop serving up coffee and joy, and at the animal shelter socializing rescued cats. She’s participates in a weekly women’s Bible study (BSF); has become a leader in Young Life Capernaum for teens with special needs; and is a member of Friends for Life, our church’s not-so-small group for adults with intellectual challenges. And of course, she still rides her beloved horses every week.
She still adores Star Trek, anything World War II, Marvel Super Heroes, Toby Mac, dogs and horses, and reading. She’s developed a love for cats, Mandisa, the Patriots, and Harry Potter. And of course, she also loves meeting new people, so if you’re ever in the DC area, please let us know!
Seizure-wise, things have not improved, but we’re getting better at recognizing and managing days when the seizures take the lead. She’s currently taking Briviact and Lamotrigine with a side or two (or sometimes three) of Clonazepam when the day is particularly seizury. The VNS is still there and functioning, but it no longer seems to impact her seizure activity.
Healthwise, she’s doing great. Exercise is important for her ability to metabolize her medicine, so we’ve taught her 3 1-2 mile routes in our neighborhood, and she walks at least twice a day looking for her canine friends. Our neighbors are great at keeping an eye out for her, and the walks give her an amazing sense of independence.
Madeline’s brothers are away at college most of the year, and she’s looking at next steps for her own life. She would love to have an apartment nearby with a few friends, and so our prayer is for just the right setup. Hard to imagine finding a caregiver that we would trust to care for her, but He’s a big God! We’ll keep you updated…
The way things were in 2016…
Madeline is a happy 20 year old fully engaged through the public school system in a transition/job training program. Currently, she is working on her culinary skills, but her long-term goal is to work with animals, particularly horses. She has participated in therapeutic riding programs for 14 years and adores all things equine.
Madeline grew up in northern Virginia and is the oldest of 3 siblings. Her brothers are 16 and 17, neuro-typical and super fun to have around (her words).
Madeline displayed some early hints that she was developmentally-delayed, beginning at about 10-12 months. At 3, she was referred to the county for therapeutic intervention (Childfind), and her pediatrician diagnosed her with Dyspraxia. Through the Fairfax County preschool system, she received further testing and, at 4, she was diagnosed with Autism (or possibly PDD-NOS); there was some disagreement, since the diagnosis usually went to boys, but the traits were pretty obvious.
At 5 year's old, she began riding horses, and this activity has been incredibly helpful as a therapy as well as just a source of pure joy. Her posture, trunk strength, ability to walk in a smooth gait, and ability to communicate verbally have all increased as a result of riding. We pretty quickly replaced her other therapies with this one because it worked so well. It's also been a great source of friendships as these kids really relate to each other's passion for riding.
Between 3rd and 5th grades, Madeline experienced remitting bouts of Arthritis which were finally diagnosed as Strep-Reactive. She was on Penicillin for 2 years to keep the Arthritis away, especially during Strep season. She went off the Penicillin at the end of 5th grade, and has not had that type of reaction since. No clue if that has anything to do with KCNB1, but I'm throwing it out there because it was just weird!
Madeline began to exhibit periods of rapid eye blinks early in elementary school, but those were attributed to the Autism. She certainly seemed less focused and communicative during those times, so it correlated with the autistic child's need to block out external distractions. When she was 12, she had her first grand mal seizure, and the resulting EEG showed that her eye blink spells were seizures. After many medicines, the neurologists have begun to call the Epilepsy intractable. She is currently on Keppra and Lamotrigine daily and Clonazapin as needed.
Because her seizures were worsening, Madeline had a VNS (vagus nerve stimulator) implanted last May. The outpatient surgery and recovery both went well, and so far she has not had any grand mals since the implant - yay! She does have a slightly raspier voice, but either it's getting better or we're getting used to it (or both). She is still having the eye blinks and absence seizures, so she has not been able to come off as much medicine as we had hoped. Also, Madeline tends to have "honeymoon" phases where new drugs or treatments work well and then stop working, so the jury's still out on the VNS. Looks pretty good so far, though.
Just before we transitioned Madeline from pediatric doctors to adult ones, the folks at Children's asked if we'd be willing to do more genetic testing. We had already done the basic Epilepsy panel, but they wanted to complete the whole exome panel with the hope of having her record available as new research is being done. They were surprised to find a match with KCNB1, but happily so. It's nice to be able to point to causes and maybe to narrow the focus on treatment. It’s also a huge blessing to have found a community of folks who relate to our experiences!
Madeline has been mainstreamed with lots of help in her school career, though in middle and high school we moved her to mostly small classes. She graduated with a special diploma in 2015. The program she attends now will go until Summer 2018, at which time she should be ready to have a job. We're not sure if she has the stamina for a full-time job, but hope that she'll get to that point. There aren't a lot of stables in the Washington, DC area, so that goal of working with horses will be a challenge. We're working on it!
Socially, Madeline is very active in the community. She is very chatty and usually up for new experiences. She helped found our local chapter of Young Life Capernaum, a youth group for teens with intellectual challenges,,and she's attended their sleep-away camps and weekly clubs since 7th grade. She also plays Challenger baseball, rides horses weekly, participates in a book group for special needs young adults, attends a weekly Bible study, and pretty much does whatever activity is offered. She adores Star Trek (especially the Original series and Voyager), anything World War II, Marvel Super Heroes, One Direction, Twenty-One Pilots,Toby Mac, the Redskins, animals (especially dogs and horses), and reading. She also loves meeting new people, so if you’re ever in the DC area, please let us know!
Madeline is now a happy 24yo with a job that she ADORES! Using her culinary skills from the transition program, Madeline is a baker’s assistant at Cameron’s Coffee and Chocolate Shop https://every1canwork.com/ She works 5 days a week and gets to take a MetroAccess bus to work.
Madeline also volunteers weekly at our church coffee shop serving up coffee and joy, and at the animal shelter socializing rescued cats. She’s participates in a weekly women’s Bible study (BSF); has become a leader in Young Life Capernaum for teens with special needs; and is a member of Friends for Life, our church’s not-so-small group for adults with intellectual challenges. And of course, she still rides her beloved horses every week.
She still adores Star Trek, anything World War II, Marvel Super Heroes, Toby Mac, dogs and horses, and reading. She’s developed a love for cats, Mandisa, the Patriots, and Harry Potter. And of course, she also loves meeting new people, so if you’re ever in the DC area, please let us know!
Seizure-wise, things have not improved, but we’re getting better at recognizing and managing days when the seizures take the lead. She’s currently taking Briviact and Lamotrigine with a side or two (or sometimes three) of Clonazepam when the day is particularly seizury. The VNS is still there and functioning, but it no longer seems to impact her seizure activity.
Healthwise, she’s doing great. Exercise is important for her ability to metabolize her medicine, so we’ve taught her 3 1-2 mile routes in our neighborhood, and she walks at least twice a day looking for her canine friends. Our neighbors are great at keeping an eye out for her, and the walks give her an amazing sense of independence.
Madeline’s brothers are away at college most of the year, and she’s looking at next steps for her own life. She would love to have an apartment nearby with a few friends, and so our prayer is for just the right setup. Hard to imagine finding a caregiver that we would trust to care for her, but He’s a big God! We’ll keep you updated…
The way things were in 2016…
Madeline is a happy 20 year old fully engaged through the public school system in a transition/job training program. Currently, she is working on her culinary skills, but her long-term goal is to work with animals, particularly horses. She has participated in therapeutic riding programs for 14 years and adores all things equine.
Madeline grew up in northern Virginia and is the oldest of 3 siblings. Her brothers are 16 and 17, neuro-typical and super fun to have around (her words).
Madeline displayed some early hints that she was developmentally-delayed, beginning at about 10-12 months. At 3, she was referred to the county for therapeutic intervention (Childfind), and her pediatrician diagnosed her with Dyspraxia. Through the Fairfax County preschool system, she received further testing and, at 4, she was diagnosed with Autism (or possibly PDD-NOS); there was some disagreement, since the diagnosis usually went to boys, but the traits were pretty obvious.
At 5 year's old, she began riding horses, and this activity has been incredibly helpful as a therapy as well as just a source of pure joy. Her posture, trunk strength, ability to walk in a smooth gait, and ability to communicate verbally have all increased as a result of riding. We pretty quickly replaced her other therapies with this one because it worked so well. It's also been a great source of friendships as these kids really relate to each other's passion for riding.
Between 3rd and 5th grades, Madeline experienced remitting bouts of Arthritis which were finally diagnosed as Strep-Reactive. She was on Penicillin for 2 years to keep the Arthritis away, especially during Strep season. She went off the Penicillin at the end of 5th grade, and has not had that type of reaction since. No clue if that has anything to do with KCNB1, but I'm throwing it out there because it was just weird!
Madeline began to exhibit periods of rapid eye blinks early in elementary school, but those were attributed to the Autism. She certainly seemed less focused and communicative during those times, so it correlated with the autistic child's need to block out external distractions. When she was 12, she had her first grand mal seizure, and the resulting EEG showed that her eye blink spells were seizures. After many medicines, the neurologists have begun to call the Epilepsy intractable. She is currently on Keppra and Lamotrigine daily and Clonazapin as needed.
Because her seizures were worsening, Madeline had a VNS (vagus nerve stimulator) implanted last May. The outpatient surgery and recovery both went well, and so far she has not had any grand mals since the implant - yay! She does have a slightly raspier voice, but either it's getting better or we're getting used to it (or both). She is still having the eye blinks and absence seizures, so she has not been able to come off as much medicine as we had hoped. Also, Madeline tends to have "honeymoon" phases where new drugs or treatments work well and then stop working, so the jury's still out on the VNS. Looks pretty good so far, though.
Just before we transitioned Madeline from pediatric doctors to adult ones, the folks at Children's asked if we'd be willing to do more genetic testing. We had already done the basic Epilepsy panel, but they wanted to complete the whole exome panel with the hope of having her record available as new research is being done. They were surprised to find a match with KCNB1, but happily so. It's nice to be able to point to causes and maybe to narrow the focus on treatment. It’s also a huge blessing to have found a community of folks who relate to our experiences!
Madeline has been mainstreamed with lots of help in her school career, though in middle and high school we moved her to mostly small classes. She graduated with a special diploma in 2015. The program she attends now will go until Summer 2018, at which time she should be ready to have a job. We're not sure if she has the stamina for a full-time job, but hope that she'll get to that point. There aren't a lot of stables in the Washington, DC area, so that goal of working with horses will be a challenge. We're working on it!
Socially, Madeline is very active in the community. She is very chatty and usually up for new experiences. She helped found our local chapter of Young Life Capernaum, a youth group for teens with intellectual challenges,,and she's attended their sleep-away camps and weekly clubs since 7th grade. She also plays Challenger baseball, rides horses weekly, participates in a book group for special needs young adults, attends a weekly Bible study, and pretty much does whatever activity is offered. She adores Star Trek (especially the Original series and Voyager), anything World War II, Marvel Super Heroes, One Direction, Twenty-One Pilots,Toby Mac, the Redskins, animals (especially dogs and horses), and reading. She also loves meeting new people, so if you’re ever in the DC area, please let us know!