Smeltzer Family Aid
Donation protected
Our middle daughter Annie has been regressing behaviorally, physically, emotionally, and cognitively. (This began throughout 2016). After a many month process with the doctors, some helpful or confused and others dismissive; she was admitted to the hospital July 5, 2017. The hospital finally recognized the urgency and progressive nature of her state and had hopes of getting more tests and finding answers. She was diagnosed with epilepsy as it was discovered she was having seizures effecting her whole brain, in rapid succession, all day. Annie was showing significantly low brain activity in some parts of her brain not typical for a child her age or development, without clear cause. Doctors found a rare protein in her spinal fluid that we were told indicated deterioration in her brain, and a little known antibody was found in her blood work. Our doctors were reading research papers and consulting outside sources to begin to understand these findings. As we searched, there were huge swings in her skills, presentation and tests. Her ability to speak at all, came and went. Her restless, disoriented and violent swings needed to be met with physical restraints, strong medications and multiple staff interventions.
Mom couldn’t leave Annie’s side. Stability, confusion and brief moments of clarity made it critical that mom was nearby. There were 5-8 specialists working from different angles and going in different directions at once. This meant having to be available for their sudden stops in Annie’s room at all hours of the day. Every momentary check-in led to information, new tests and decisions; there was no chance Mom could miss a single one!
At the end of August, Annie’s older sister suffered a MAJOR health crisis. (More on her progress to come.) Mom requested another try at being home, so the whole family could be together again. The next many months saw too many appointments and tests to count. There were infusions of medications as well as a battery of medicines given morning, noon and night. We continued to run into road blocks in getting the therapies and services to try to help her, because without an official diagnosis, it's nearly impossible to code for insurance, or qualify for wait lists and treatment options.
Upon receiving the results of genetic testing, there were a few things that the neurologist felt may be adding to the situation, but in the geneticist's opinion; "the answer to what is happening to her is not on that paper." They prefaced and summarized that they can not rule out a genetic condition.
The neurologist hypothesized that we may still be dealing with more than one condition. BUT up to this point, all the conditions/diseases we had tested for and/or treated, have not yielded any of the expected results. Neurology considers us a case study. In the meantime, neurology gave her the official diagnosis of "epilepsy" and "epileptic encephalitis of unknown etiology".
Rheumatology decided to further suppress her immune system from December imdrfinitely. This is in an attempt to fight the potential antibodies she may be creating that COULD be attacking her body instead of defending it. Rheumatology has officially given her the diagnosis of "autoimmune encephalitis".
When weaned off steroids at the end of September, Annie rapidly deteriorated further. We were kept at the hospital again. We ran more labs, and performed other tests. We added another immune suppressant DAILY. This drug is used for organ transplants to prevent rejections. It will further suppress her body from making antibodies that we believe MAY be attacking her brain. We added more anti-psychotic meds to help calm and lessen her symptoms. We found the nearly all the drugs we have succeeded with, have lasted less than 10 days and Annie's tolerance and deterioration, over power those medications usefulness.
The doctors have contacted a leading specialist in Autoimmune Encephalitis. She is in North Carolina at Duke University. We hope that seeing Annie in person will give the doctor a better grasp on her presentation and perhaps she will have new treatment suggestions. We also hope that this expert can evaluate her and decided if Annie really does fit enough criteria and we could stop running in both directions at once. The doctors here, in Columbus reached the limit of their ideas and comfort level trying to treat the list of presumed diagnoses, given her lack of progress and tests showing apparent decline. They passed the ball to the doctor at Duke.
AT HOME: through the many months, Dad and 4 siblings floundered. Help from friends and family was quickly exhausted. Not unexpectedly, the mental health and resources in the house dwindle lightening fast. Our landlord sold the house we were in, but we found and moved into a new house to rent. During all of this it took small armies of volunteers to help move us as well as keep the daily needs moving. Annie’s dad didn’t qualify to take FMLA time off until April which meant he was risking his job and losing pay any time he did take.
Annie and Mom traveled to Duke University in North Carolina and the doctors there not only accepted us as patients but will continue to coordinate care. We will travel every 3-6 months to meet with them. There is still a lot that is unknown about this disease. They told us that they only have five patients that they know of, that have the same rare antibody type that Annie has. Those patients have taken much longer than others and needed more combinations of medicines, to see any improvement. They believe she’s been sick for a long time, potentially as early as the seizure she had in 2014 that was dismissed as fever related. They want us to be prepared for a lengthy battle. The longer a patient is sick with this disease, the longer it takes to get better.
There is a chance she could recover completely and resume her previous intelligence and personality. There is a chance some of the damage is permanent (at varying levels) but we can improve many aspects and stabilize her overall. There is a chance much of this could be life long. Also, some patients relapse later, others don’t and they don’t know as much about this type to give a projected expectation.
November 2017 through February 2018 saw more changes in medicines. There were some improvements but many back slides and new symptoms. Annie was admitted a few more times with instabilities. Tests showed increasing concern for Annie’s liver. She underwent a biopsy and more testing. The doctors considered much of what we were doing “band-aids” while we were waiting for her immune system to STOP making more bad antibodies.
At the end of February Mom and Annie saw doctors at Duke and a specialist in Cincinnati. There were more questions than answers and a guess to stay the course, but given more immune suppression infusions to further combat the bad antibodies. t has been reiterated that the type of Autoimmune Encephalitis she has takes about 18 months to begin to stabilize and even 2-3 years to find the new normal. That estimated beginning of full treatment was set mid fall 2017. After more setbacks and testing, the estimated timeline has been pushed about 5 months further. We are looking at at least 10-12 months of stabilizing before real improvement can be expected. Again, this disease has a wide range of permanent and semi permanent damages.
A 10 month plan to wean some of the medicines was proposed. From February to July, setbacks continued to push the beginning of that plan.
THROUGHOUT ALL OF THIS, AT HOME:
Mom is struggling with mental and physical exhaustion, heart issues from the last few years and increasingly crippling depression. With little to no time for self care, she has had continued health issues including pneumonia.
Our oldest struggles with anxiety and depression on top of being a teenager dealing with split homes. Recent revelations have necessitated involvement by a number of agencies as well as a court battle to now insure her physical and emotional well-being. She is so helpful and sweet when she feels well and we all pray for days she feels more like herself.
Our second child is trying to bear the weight of being occasional default oldest and being old enough to recognize the gravity of the situations surrounding him. He struggles with frustration as well has some difficulties with school work that So far, we have failed to give him adequate help.
Our second son has begin medicine to help with ADHD. His symptoms and struggles to self regulate are getting more challenging as the stress at home gives him less reprieve.
Our youngest started speech therapy which I had to stop due to lack of time to get her there versus other appointments. She’s floated to amazing friends houses but misses having time with her family and it’s hard to explain to her why things are so unsettled.
Dad works so hard everyday. He’s been in this job just over a year now. He has been given FMLA to secure his job when he can’t be there, but the family can’t afford the lost income when he does take off. When he’s home, he’s struggled with his own exhaustion and seasonal depression. He fights to make a dent in the chores but comes to the limit of his time and ability as well.
We ask for prayers. We ask for kind thoughts. We ask to occasionally have a friend invite a kid around for a play date so they can have a small bit of normalcy. We ask for donations as much as that puts a lump in our throats. We ask for understanding and patience as we aren’t able to do the things we used to do like have friends over, send cards and be engaged in our community. We ask for mercy and grace and love to pour on us. This family is tired.
As with many long haul health battles, the resources and support systems are waning. The financial burden of bills, therapies, gas, lunches (for multi-appointment day’s), travel to see other specialists, car repairs coming with use and age of the van; they pile up over and again! Additional burden comes as those things eat into our regular living expense budget and add late fees... things grow further strained. As would be expected, this along with uncertainty and the daily tears and fits have added to the entire family feeling strained, torn in different directions and isolated even in the midst of being stuck in this mud together.
We are asking for help to make all the ends meet as we move through the next chapters of this battle. Thank you for taking the time to read and share our story.
Mom couldn’t leave Annie’s side. Stability, confusion and brief moments of clarity made it critical that mom was nearby. There were 5-8 specialists working from different angles and going in different directions at once. This meant having to be available for their sudden stops in Annie’s room at all hours of the day. Every momentary check-in led to information, new tests and decisions; there was no chance Mom could miss a single one!
At the end of August, Annie’s older sister suffered a MAJOR health crisis. (More on her progress to come.) Mom requested another try at being home, so the whole family could be together again. The next many months saw too many appointments and tests to count. There were infusions of medications as well as a battery of medicines given morning, noon and night. We continued to run into road blocks in getting the therapies and services to try to help her, because without an official diagnosis, it's nearly impossible to code for insurance, or qualify for wait lists and treatment options.
Upon receiving the results of genetic testing, there were a few things that the neurologist felt may be adding to the situation, but in the geneticist's opinion; "the answer to what is happening to her is not on that paper." They prefaced and summarized that they can not rule out a genetic condition.
The neurologist hypothesized that we may still be dealing with more than one condition. BUT up to this point, all the conditions/diseases we had tested for and/or treated, have not yielded any of the expected results. Neurology considers us a case study. In the meantime, neurology gave her the official diagnosis of "epilepsy" and "epileptic encephalitis of unknown etiology".
Rheumatology decided to further suppress her immune system from December imdrfinitely. This is in an attempt to fight the potential antibodies she may be creating that COULD be attacking her body instead of defending it. Rheumatology has officially given her the diagnosis of "autoimmune encephalitis".
When weaned off steroids at the end of September, Annie rapidly deteriorated further. We were kept at the hospital again. We ran more labs, and performed other tests. We added another immune suppressant DAILY. This drug is used for organ transplants to prevent rejections. It will further suppress her body from making antibodies that we believe MAY be attacking her brain. We added more anti-psychotic meds to help calm and lessen her symptoms. We found the nearly all the drugs we have succeeded with, have lasted less than 10 days and Annie's tolerance and deterioration, over power those medications usefulness.
The doctors have contacted a leading specialist in Autoimmune Encephalitis. She is in North Carolina at Duke University. We hope that seeing Annie in person will give the doctor a better grasp on her presentation and perhaps she will have new treatment suggestions. We also hope that this expert can evaluate her and decided if Annie really does fit enough criteria and we could stop running in both directions at once. The doctors here, in Columbus reached the limit of their ideas and comfort level trying to treat the list of presumed diagnoses, given her lack of progress and tests showing apparent decline. They passed the ball to the doctor at Duke.
AT HOME: through the many months, Dad and 4 siblings floundered. Help from friends and family was quickly exhausted. Not unexpectedly, the mental health and resources in the house dwindle lightening fast. Our landlord sold the house we were in, but we found and moved into a new house to rent. During all of this it took small armies of volunteers to help move us as well as keep the daily needs moving. Annie’s dad didn’t qualify to take FMLA time off until April which meant he was risking his job and losing pay any time he did take.
Annie and Mom traveled to Duke University in North Carolina and the doctors there not only accepted us as patients but will continue to coordinate care. We will travel every 3-6 months to meet with them. There is still a lot that is unknown about this disease. They told us that they only have five patients that they know of, that have the same rare antibody type that Annie has. Those patients have taken much longer than others and needed more combinations of medicines, to see any improvement. They believe she’s been sick for a long time, potentially as early as the seizure she had in 2014 that was dismissed as fever related. They want us to be prepared for a lengthy battle. The longer a patient is sick with this disease, the longer it takes to get better.
There is a chance she could recover completely and resume her previous intelligence and personality. There is a chance some of the damage is permanent (at varying levels) but we can improve many aspects and stabilize her overall. There is a chance much of this could be life long. Also, some patients relapse later, others don’t and they don’t know as much about this type to give a projected expectation.
November 2017 through February 2018 saw more changes in medicines. There were some improvements but many back slides and new symptoms. Annie was admitted a few more times with instabilities. Tests showed increasing concern for Annie’s liver. She underwent a biopsy and more testing. The doctors considered much of what we were doing “band-aids” while we were waiting for her immune system to STOP making more bad antibodies.
At the end of February Mom and Annie saw doctors at Duke and a specialist in Cincinnati. There were more questions than answers and a guess to stay the course, but given more immune suppression infusions to further combat the bad antibodies. t has been reiterated that the type of Autoimmune Encephalitis she has takes about 18 months to begin to stabilize and even 2-3 years to find the new normal. That estimated beginning of full treatment was set mid fall 2017. After more setbacks and testing, the estimated timeline has been pushed about 5 months further. We are looking at at least 10-12 months of stabilizing before real improvement can be expected. Again, this disease has a wide range of permanent and semi permanent damages.
A 10 month plan to wean some of the medicines was proposed. From February to July, setbacks continued to push the beginning of that plan.
THROUGHOUT ALL OF THIS, AT HOME:
Mom is struggling with mental and physical exhaustion, heart issues from the last few years and increasingly crippling depression. With little to no time for self care, she has had continued health issues including pneumonia.
Our oldest struggles with anxiety and depression on top of being a teenager dealing with split homes. Recent revelations have necessitated involvement by a number of agencies as well as a court battle to now insure her physical and emotional well-being. She is so helpful and sweet when she feels well and we all pray for days she feels more like herself.
Our second child is trying to bear the weight of being occasional default oldest and being old enough to recognize the gravity of the situations surrounding him. He struggles with frustration as well has some difficulties with school work that So far, we have failed to give him adequate help.
Our second son has begin medicine to help with ADHD. His symptoms and struggles to self regulate are getting more challenging as the stress at home gives him less reprieve.
Our youngest started speech therapy which I had to stop due to lack of time to get her there versus other appointments. She’s floated to amazing friends houses but misses having time with her family and it’s hard to explain to her why things are so unsettled.
Dad works so hard everyday. He’s been in this job just over a year now. He has been given FMLA to secure his job when he can’t be there, but the family can’t afford the lost income when he does take off. When he’s home, he’s struggled with his own exhaustion and seasonal depression. He fights to make a dent in the chores but comes to the limit of his time and ability as well.
We ask for prayers. We ask for kind thoughts. We ask to occasionally have a friend invite a kid around for a play date so they can have a small bit of normalcy. We ask for donations as much as that puts a lump in our throats. We ask for understanding and patience as we aren’t able to do the things we used to do like have friends over, send cards and be engaged in our community. We ask for mercy and grace and love to pour on us. This family is tired.
As with many long haul health battles, the resources and support systems are waning. The financial burden of bills, therapies, gas, lunches (for multi-appointment day’s), travel to see other specialists, car repairs coming with use and age of the van; they pile up over and again! Additional burden comes as those things eat into our regular living expense budget and add late fees... things grow further strained. As would be expected, this along with uncertainty and the daily tears and fits have added to the entire family feeling strained, torn in different directions and isolated even in the midst of being stuck in this mud together.
We are asking for help to make all the ends meet as we move through the next chapters of this battle. Thank you for taking the time to read and share our story.
Organizer
Elysa Lynn Smeltzer
Organizer
Hilliard, OH
