*MAJOR UPDATE*
Angelina's diagnosis has been updated with the results from her genetic panel. She has a genetic condition known as STXBP1 Encephalopathy. STXBP1 is a gene that encodes for an important protein involved in neurotransmitter release, or in other words it's a part of brain cells that helps them talk to other brain cells by sending chemicals from one to another. Mutations in this gene cause seizures in 85% of children with the disorder, while all will have developmental delay, cognitive impairment, and intellectual disability. There is currently no cure for the condition.
Please Help Our Baby Girl and Spread Awareness
Our beautiful 3 month-old baby girl Angelina Tevy Rexa (translates as "in the care of an angel") has been diagnosed with a rare epilepsy disorder. Besides reaching out for help with the funds that will be needed to treat and take care of her, I also want to spread awareness though our story so that other families and children can be spared some of the pain and suffering we went though.
Angelina's Story: What Every Parent and Healthcare Provider Needs to Read
Our baby girl was born in April of this year. She was beautiful and perfect, and passed all her newborn screens and checkups. The only thing my wife noticed was that even still in the womb, she seemed more jittery and twitchy than our other children. She was growing fine and developing but at around 5 weeks we started to notice what seemed like little choking episodes after feeds, as she fell asleep and as she woke up, and spat up quite a bit.
What followed was a hellish 6 weeks for us and our baby girl. She continued to get worse, eventually falling into a pattern where it was something between choking and being startled several times, followed by utter exhaustion with little muscle twitches, and it seemed like it was starting to affect her development. We had one televisit and two in-person visits with our pediatrician, a prescription for baby Prevacid, two pulmonology appointments, and an ENT appointment where a camera was inserted down her nose and throat. As she kept getting worse and worse, every medical provider we saw doubled down on the diagnosis, "it's just reflux, she'll grow out of it, as long as she continues to feed and gain weight and doesn't hold her breath too long or turns blue it's not dangerous."
Both of us, but especially my wife, were not satisfied. She shared videos of our child to friends who were doctors and friends doctors, and they all said the same thing.
It wasn't until nearly 6 weeks into the ordeal, after countless hours Googling descriptions of what we were seeing, that I came across videos describing different types of infant and neonatal epilepsy, and many of them shared features of what we were seeing both recently and since birth. After being unable to get a timely appointment with a neurologist, we decided to take her to Phoenix Children's Hospital near downtown Phoenix. They were truly the best experience I've ever had going to an emergency room at a hospital. They got us right into a private room, and promptly had nurses and doctors come and listen to our concerns. They said it didn't look too much like seizures, but that sometimes early infant epilepsies can be really subtle, so the only way to rule it out was through EEG, which they ordered. The EEG confirmed our suspicion of an epilepsy disorder. Many more tests were done, including an MRI, spinal tap, dozens of blood tests, and trials of many different therapies. Nothing was conclusive until the results of a genetic panel came back 2 months after going to the hospital with the diagnosis of STXBP1 Encephalopathy.
Epilepsies in Infancy and Early Childhood Can Be Subtle, the Consequences Aren't!
There are well over 100 different causes of epilepsy that can present in infancy, with a combined prevalence around 1 in 1000. Many of these can be very subtle and easily confused for reflux or colic, but they can have drastic, life-changing consequences if undiagnosed. While effective treatments are still in the pipeline for most causes, some are easily treatable if caught early, and it will mean the difference between normal development and lifelong disability. The most tragic circumstance imaginable that happens all too often is a child's treatable diagnosis will be delayed due to parents and medical professionals not recognizing the signs and symptoms of epilepsy, and by the time it is found, too much has been lost in terms of development and the child will live with serious handicaps for the rest of their lives.
For Angelina's diagnosis (STXBP1 Encephalopathy), there is no treatment available at this time. Regardless, knowing the diagnosis has allowed us to optimized her treatment and therapy. We've been able to connect with researchers, doctors and scientists who are documenting the condition and working on new treatments in hopes that one day a cure will be found. None of that would be possible had we not recognized the signs on our own based on what we could find from an internet search, and subsequently healthcare providers that listened to our concerns and got us the right diagnostics.
What Your Donation Will Go Towards.
The first $7000 we raise will go toward the deductible in our health insurance. This will ensure we will be able to pay the wonderful healthcare providers at Phoenix Children's Hospital that listened to our concerns, ordered the proper diagnostics, and started us on the path of treatment and possible recovery. They have truly given us the best experience we have ever had with a medical care encounter.
The next $3000 will help to replace some of the lost income during the initial two weeks that require two separate hospital visits. With my wife taking care of our two young children at home, I needed to cancel two weeks of appointments so I could be at the hospital with our baby. As I am self employed, not working means no income.
Any money above and beyond that will go towards her ongoing treatment and spreading awareness. Had I known about these kinds of conditions sooner, I would have taken much quicker action, so I want to do everything I can to make sure other parents don't go through the same thing and have the same regrets. Extra money would allow me to make a high production quality video telling our story and educating other parents, a website with our story and links to additional resources, and many other things to spread awareness.
Thank you for anything you can give, and please share this so that at minimum other parents and healthcare providers can be aware of these conditions and be on the lookout. Thank you!
-David & Missy
Angelina's diagnosis has been updated with the results from her genetic panel. She has a genetic condition known as STXBP1 Encephalopathy. STXBP1 is a gene that encodes for an important protein involved in neurotransmitter release, or in other words it's a part of brain cells that helps them talk to other brain cells by sending chemicals from one to another. Mutations in this gene cause seizures in 85% of children with the disorder, while all will have developmental delay, cognitive impairment, and intellectual disability. There is currently no cure for the condition.
Please Help Our Baby Girl and Spread Awareness
Our beautiful 3 month-old baby girl Angelina Tevy Rexa (translates as "in the care of an angel") has been diagnosed with a rare epilepsy disorder. Besides reaching out for help with the funds that will be needed to treat and take care of her, I also want to spread awareness though our story so that other families and children can be spared some of the pain and suffering we went though.
Angelina's Story: What Every Parent and Healthcare Provider Needs to Read
Our baby girl was born in April of this year. She was beautiful and perfect, and passed all her newborn screens and checkups. The only thing my wife noticed was that even still in the womb, she seemed more jittery and twitchy than our other children. She was growing fine and developing but at around 5 weeks we started to notice what seemed like little choking episodes after feeds, as she fell asleep and as she woke up, and spat up quite a bit.
What followed was a hellish 6 weeks for us and our baby girl. She continued to get worse, eventually falling into a pattern where it was something between choking and being startled several times, followed by utter exhaustion with little muscle twitches, and it seemed like it was starting to affect her development. We had one televisit and two in-person visits with our pediatrician, a prescription for baby Prevacid, two pulmonology appointments, and an ENT appointment where a camera was inserted down her nose and throat. As she kept getting worse and worse, every medical provider we saw doubled down on the diagnosis, "it's just reflux, she'll grow out of it, as long as she continues to feed and gain weight and doesn't hold her breath too long or turns blue it's not dangerous."
Both of us, but especially my wife, were not satisfied. She shared videos of our child to friends who were doctors and friends doctors, and they all said the same thing.
It wasn't until nearly 6 weeks into the ordeal, after countless hours Googling descriptions of what we were seeing, that I came across videos describing different types of infant and neonatal epilepsy, and many of them shared features of what we were seeing both recently and since birth. After being unable to get a timely appointment with a neurologist, we decided to take her to Phoenix Children's Hospital near downtown Phoenix. They were truly the best experience I've ever had going to an emergency room at a hospital. They got us right into a private room, and promptly had nurses and doctors come and listen to our concerns. They said it didn't look too much like seizures, but that sometimes early infant epilepsies can be really subtle, so the only way to rule it out was through EEG, which they ordered. The EEG confirmed our suspicion of an epilepsy disorder. Many more tests were done, including an MRI, spinal tap, dozens of blood tests, and trials of many different therapies. Nothing was conclusive until the results of a genetic panel came back 2 months after going to the hospital with the diagnosis of STXBP1 Encephalopathy.
Epilepsies in Infancy and Early Childhood Can Be Subtle, the Consequences Aren't!
There are well over 100 different causes of epilepsy that can present in infancy, with a combined prevalence around 1 in 1000. Many of these can be very subtle and easily confused for reflux or colic, but they can have drastic, life-changing consequences if undiagnosed. While effective treatments are still in the pipeline for most causes, some are easily treatable if caught early, and it will mean the difference between normal development and lifelong disability. The most tragic circumstance imaginable that happens all too often is a child's treatable diagnosis will be delayed due to parents and medical professionals not recognizing the signs and symptoms of epilepsy, and by the time it is found, too much has been lost in terms of development and the child will live with serious handicaps for the rest of their lives.
For Angelina's diagnosis (STXBP1 Encephalopathy), there is no treatment available at this time. Regardless, knowing the diagnosis has allowed us to optimized her treatment and therapy. We've been able to connect with researchers, doctors and scientists who are documenting the condition and working on new treatments in hopes that one day a cure will be found. None of that would be possible had we not recognized the signs on our own based on what we could find from an internet search, and subsequently healthcare providers that listened to our concerns and got us the right diagnostics.
What Your Donation Will Go Towards.
The first $7000 we raise will go toward the deductible in our health insurance. This will ensure we will be able to pay the wonderful healthcare providers at Phoenix Children's Hospital that listened to our concerns, ordered the proper diagnostics, and started us on the path of treatment and possible recovery. They have truly given us the best experience we have ever had with a medical care encounter.
The next $3000 will help to replace some of the lost income during the initial two weeks that require two separate hospital visits. With my wife taking care of our two young children at home, I needed to cancel two weeks of appointments so I could be at the hospital with our baby. As I am self employed, not working means no income.
Any money above and beyond that will go towards her ongoing treatment and spreading awareness. Had I known about these kinds of conditions sooner, I would have taken much quicker action, so I want to do everything I can to make sure other parents don't go through the same thing and have the same regrets. Extra money would allow me to make a high production quality video telling our story and educating other parents, a website with our story and links to additional resources, and many other things to spread awareness.
Thank you for anything you can give, and please share this so that at minimum other parents and healthcare providers can be aware of these conditions and be on the lookout. Thank you!
-David & Missy