|
|
|
This is something I thought I would never have to write as, in some respects, I am revisiting some very painful times in Aubrey's life but on the flipside, some very special heartwarming ones as well.
Aubrey was born when I was 40 years old (my midlife surprise!). Pregnancy was normal in every sense of the word as was her birth. Weighing in over 8 lbs., she appeared healthy and passed all normal tests given at birth some 18 years ago.
We realized that Aubrey was missing milestones as we have 3 much older children (now in their 30's). Aubrey wasn't sitting by herself and didn't seem to have the curiosity that one would expect from their 9 mo. old child. At the age of 18 mos., Aubrey did not walk, said very few words, mostly Mama and Dada and BOO! Her primary care physician recommended the local Birth to Three Program available to assist her in meeting newly set development goals. She was given speech therapy and physical therapy as she was also diagnosed as being low ketonic (low muscle tone). The therapies definitely helped her. She took her first steps on Thanksgiving 2003 at the age of 2 1/2 (30 mos.) Once she got the hang of walking, she continued to walk with a toddler's gait with both arms raised and fists made. To this day, she really doesn't run, she walks fast, still with the toddler's gait. If we attend a fair or all day affair, she requires a wheelchair as she would have a very difficult time walking for any time over 2-3 hours.
Early on we visited a developmental specialist for an official diagnosis. After the physician made several failed attempts at having Aubrey complete different assessment tasks and tests, he concluded that she was moderately intellectually disabled. Following a number of state required tests at the school level, a certified school psychologist concurred.
Aubrey has always eaten well and continues to eat a variety of foods that a lot of children her age (and older) will not eat such as peas, carrots, broccoli, clams, lobster, etc. It's great for us that she's so accepting and will to try new foods.
She has, in the past and currently, exhibits some Autistic behaviors such as lining up her current collection pieces, obsessive compulsive tendencies and repetitive questioning and comments. Aubrey is also epileptic and experiences grand mal seizures. She also suffers from periodic migraine headaches which are successfully treated with disolvable Zofran.
At the age of 6, she experienced her first tonic-clonic seizure. She had just come home from school and I had a prism ornament suspended over our kitchen sink and it caught the light that had shown through the window. Aubrey stopped, smiled and pointed out the beautiful spectrum of colors presented on the ceiling from the prism. Suddenly, her face no longer had her sweet smile, but was expressionless. I asked her what was the matter and she did not respond. Being spooked by her not responding, I quickly went over to her and caught her as she fell into my arms. She was convulsing and I realized she was seizing. She had stopped breathing and was turning blue. Using standard seizure procedures I had learned in CPR classes, I held Aubrey while my elder son, home on school break (thank heavens), called 911. That was the day I realized that this was perhaps something way bigger than Aubrey just being developmentally delayed.
Aubrey was sent home that evening and had a second seizure 2 weeks later while in the car. What we were able to identify later, was that Aubrey has light sensitivity and while we driving down the road, the flashing of the sun shining through the trees, presented the perfect storm for her (epileptic patients in general) to seize. We remain very cautious about her exposure to flashing lights (i.e. firetrucks, police, state highway trucks, Christmas lights, etc.) as she has had many seizures while riding in the car, traveling in the back seat. We also now understand that she is hyper sensory. Loud noises, busy areas, restaurants, are most disturbing and dangerous for her. She has incredible vision and hearing. This has held true to current day. As a result, Aubrey wears dark polarized UV protecting sunglasses 99% of the time and has multiple sets of noise cancelling headphones that we take everywhere we go. After that episode is when anti-seizure drugs were prescribed. That in itself was a roller coaster ride. We went through so many anti-seizure medications such as Dilantin, Tegretol, Lamictal, Onfi and a few others with no success.
Realizing we needed to get Aubrey more help, we visited a Genetics Specialist and he had nothing new to offer as everything genetically appeared completely normal. Autism was thought to be a possibility but was dispelled following the testing. Keep in mind that this visit was some 13 years ago and so much progress has been made in the area of genetics!
Since that time, we have kept a record of every seizure Aubrey has experienced trying to find common denominators in her diet, surroundings or any illness she may have had that may be precipitated the seizure. Dark chocolate appears to be one of the more definitive culprits.
Fast forward, one evening at about 9PM in November 2017 at the age of 16, Aubrey began to behave oddly. She was extremely agitated - slamming doors and kicking walls - nothing like we've ever experienced with her in the past. Shortly thereafter, she began to seize. After administering Diastat, it became clear that Aubrey was not responding and was turning blue - no breathing! A parent’s worst nightmare! I began CPR while my husband called 911. First responders arrived quickly. EMT's continued to administered CPR and Ativan twice to circumvent the seizures (she had one after the other). Aubrey was hospitalized overnight and released. That was the one and only time we experienced a "status" call. Hope to never again!
**A quick side note is that I would encourage anyone with children to take a CPR certification class. I think it should be a requirement for all
parents.
In the past, Aubrey was treated with various anti-seizure drugs but those that have been most successful, without Aubrey being allergic to them, is a cocktail of Keppra, Zonisimide, B6 and D3. Most recently, Aubrey was also prescribed Epidiolex (the first prescription cannabis based drug with no HTC). Aubrey was prescribed Epidiolex as she was diagnosed with Lennox Gastaut Syndrome, a type of epilepsy that does not respond to drugs for most patients. Last summer we had a horrible time of it. She was experiencing tonic-clonic seizures twice a week. Having had 14 of them from May 30 to August 1, we had exhausted most anti- seizure meds and knew things were going in the wrong direction fast. One needs to understand that when Aubrey seizes, it is physically exhausting and wipes her out for at least 8 hours! So, if you look at it from that perspective, last summer she was out of commission for 14 days due to seizures! As a result of this accelerated seizure activity, genetic testing was recommended in November 2019 and performed. Hence, the positive result of the KCNB1 mutation.
The good news is that we now know what Aubrey's true diagnosis is. Secondly, once Aubrey began taking Epidiolex, she went 4 mos without a seizure. Unfortunately, within the last 3 weeks, Aubrey has experienced 4 seizures so whatever relief the Epidiolex may have provided us, it seems to have lost its magic.
Aubrey, to this day, cannot read or write anything more than her first name and does so as a 4 year old would. She can consistently identify numbers 1 - 5, but nothing more. We've tried every teaching method including phonetics, visual word and number identification. She can use a PC with a touch screen but we have to get her to the right URL for her interest/current obsession which always tends to be something related to plush animals or whatever her current interest happens to be. Interestingly, Aubrey was able to navigate through the screens and purchase over $2,000 worth of plush animals that intrigued her on Amazon. Luckily, we were able to cancel the orders prior to them being filled and shipped! Lesson learned! PC parental controls were then implemented and the valuable lesson here is to never underestimate your child's abilities!
Aubrey interests include music (not hard rock) and she also loves to dance. She tends to obsess about her interests. Thus far, we've gone through Zsu-Zsu pets, TY Boo plush (in every size), My Little Pony, Angry Birds, Marvel characters, Star Wars, zoo animals, just to name a few. She watches very little TV (her choice) as we believe the display of the TV irritates her. Instead, she prefers to watch movies on her PC or phone. Her phone has no access other than the internet within range of wi-fi.
At the age of 18, Aubrey graduated with a high school diploma (certificate) and attended a prom for the Special Ed seniors and the Unified Sports peers! She now attends a post grad Transition Academy where she continues to learn valuable life skills. The academy staff also perform occupational assessments identifying Aubrey's strengths and weaknesses in an effort to match her with a potential job post Academy at the age of 21. Whether she will be employable is yet to be seen. She has learned how to wash and fold clothes, set a table, wash dishes, clean, and straighten merchandise on shelves within a store along with other social interactive activities - a great program! Throughout all of this, Aubrey is extremely fortunate to have a great support group around her. Several aunts, uncles, cousins, 4 grandparents, friends, instructors and paras that all adore her and have come to understand her and her "Aubreyisms". I share this lengthy story in hopes that some of you will take away something that you can use, identify with and hopefully understand that it is not all gloom. Aubrey, even though she has the speech and writing ability of a 3-4 year old, has quite a sense of humor and can understand more than one might think she is capable. She surprises us sometimes with comments and words that we never knew she had learned and she uses them appropriately! It's the little things in her growth and progress that helps to motivate us in supporting her in experiencing many of life's wonderful pleasures in this world.
Our philosophy is to keep going and never-EVER, think that your efforts aren't worth the time. Celebrate the small milestones and victories. While not all attempts will be successful, the ones that are, are priceless and will create memories for all of you that will last a lifetime.
Aubrey was born when I was 40 years old (my midlife surprise!). Pregnancy was normal in every sense of the word as was her birth. Weighing in over 8 lbs., she appeared healthy and passed all normal tests given at birth some 18 years ago.
We realized that Aubrey was missing milestones as we have 3 much older children (now in their 30's). Aubrey wasn't sitting by herself and didn't seem to have the curiosity that one would expect from their 9 mo. old child. At the age of 18 mos., Aubrey did not walk, said very few words, mostly Mama and Dada and BOO! Her primary care physician recommended the local Birth to Three Program available to assist her in meeting newly set development goals. She was given speech therapy and physical therapy as she was also diagnosed as being low ketonic (low muscle tone). The therapies definitely helped her. She took her first steps on Thanksgiving 2003 at the age of 2 1/2 (30 mos.) Once she got the hang of walking, she continued to walk with a toddler's gait with both arms raised and fists made. To this day, she really doesn't run, she walks fast, still with the toddler's gait. If we attend a fair or all day affair, she requires a wheelchair as she would have a very difficult time walking for any time over 2-3 hours.
Early on we visited a developmental specialist for an official diagnosis. After the physician made several failed attempts at having Aubrey complete different assessment tasks and tests, he concluded that she was moderately intellectually disabled. Following a number of state required tests at the school level, a certified school psychologist concurred.
Aubrey has always eaten well and continues to eat a variety of foods that a lot of children her age (and older) will not eat such as peas, carrots, broccoli, clams, lobster, etc. It's great for us that she's so accepting and will to try new foods.
She has, in the past and currently, exhibits some Autistic behaviors such as lining up her current collection pieces, obsessive compulsive tendencies and repetitive questioning and comments. Aubrey is also epileptic and experiences grand mal seizures. She also suffers from periodic migraine headaches which are successfully treated with disolvable Zofran.
At the age of 6, she experienced her first tonic-clonic seizure. She had just come home from school and I had a prism ornament suspended over our kitchen sink and it caught the light that had shown through the window. Aubrey stopped, smiled and pointed out the beautiful spectrum of colors presented on the ceiling from the prism. Suddenly, her face no longer had her sweet smile, but was expressionless. I asked her what was the matter and she did not respond. Being spooked by her not responding, I quickly went over to her and caught her as she fell into my arms. She was convulsing and I realized she was seizing. She had stopped breathing and was turning blue. Using standard seizure procedures I had learned in CPR classes, I held Aubrey while my elder son, home on school break (thank heavens), called 911. That was the day I realized that this was perhaps something way bigger than Aubrey just being developmentally delayed.
Aubrey was sent home that evening and had a second seizure 2 weeks later while in the car. What we were able to identify later, was that Aubrey has light sensitivity and while we driving down the road, the flashing of the sun shining through the trees, presented the perfect storm for her (epileptic patients in general) to seize. We remain very cautious about her exposure to flashing lights (i.e. firetrucks, police, state highway trucks, Christmas lights, etc.) as she has had many seizures while riding in the car, traveling in the back seat. We also now understand that she is hyper sensory. Loud noises, busy areas, restaurants, are most disturbing and dangerous for her. She has incredible vision and hearing. This has held true to current day. As a result, Aubrey wears dark polarized UV protecting sunglasses 99% of the time and has multiple sets of noise cancelling headphones that we take everywhere we go. After that episode is when anti-seizure drugs were prescribed. That in itself was a roller coaster ride. We went through so many anti-seizure medications such as Dilantin, Tegretol, Lamictal, Onfi and a few others with no success.
Realizing we needed to get Aubrey more help, we visited a Genetics Specialist and he had nothing new to offer as everything genetically appeared completely normal. Autism was thought to be a possibility but was dispelled following the testing. Keep in mind that this visit was some 13 years ago and so much progress has been made in the area of genetics!
Since that time, we have kept a record of every seizure Aubrey has experienced trying to find common denominators in her diet, surroundings or any illness she may have had that may be precipitated the seizure. Dark chocolate appears to be one of the more definitive culprits.
Fast forward, one evening at about 9PM in November 2017 at the age of 16, Aubrey began to behave oddly. She was extremely agitated - slamming doors and kicking walls - nothing like we've ever experienced with her in the past. Shortly thereafter, she began to seize. After administering Diastat, it became clear that Aubrey was not responding and was turning blue - no breathing! A parent’s worst nightmare! I began CPR while my husband called 911. First responders arrived quickly. EMT's continued to administered CPR and Ativan twice to circumvent the seizures (she had one after the other). Aubrey was hospitalized overnight and released. That was the one and only time we experienced a "status" call. Hope to never again!
**A quick side note is that I would encourage anyone with children to take a CPR certification class. I think it should be a requirement for all
parents.
In the past, Aubrey was treated with various anti-seizure drugs but those that have been most successful, without Aubrey being allergic to them, is a cocktail of Keppra, Zonisimide, B6 and D3. Most recently, Aubrey was also prescribed Epidiolex (the first prescription cannabis based drug with no HTC). Aubrey was prescribed Epidiolex as she was diagnosed with Lennox Gastaut Syndrome, a type of epilepsy that does not respond to drugs for most patients. Last summer we had a horrible time of it. She was experiencing tonic-clonic seizures twice a week. Having had 14 of them from May 30 to August 1, we had exhausted most anti- seizure meds and knew things were going in the wrong direction fast. One needs to understand that when Aubrey seizes, it is physically exhausting and wipes her out for at least 8 hours! So, if you look at it from that perspective, last summer she was out of commission for 14 days due to seizures! As a result of this accelerated seizure activity, genetic testing was recommended in November 2019 and performed. Hence, the positive result of the KCNB1 mutation.
The good news is that we now know what Aubrey's true diagnosis is. Secondly, once Aubrey began taking Epidiolex, she went 4 mos without a seizure. Unfortunately, within the last 3 weeks, Aubrey has experienced 4 seizures so whatever relief the Epidiolex may have provided us, it seems to have lost its magic.
Aubrey, to this day, cannot read or write anything more than her first name and does so as a 4 year old would. She can consistently identify numbers 1 - 5, but nothing more. We've tried every teaching method including phonetics, visual word and number identification. She can use a PC with a touch screen but we have to get her to the right URL for her interest/current obsession which always tends to be something related to plush animals or whatever her current interest happens to be. Interestingly, Aubrey was able to navigate through the screens and purchase over $2,000 worth of plush animals that intrigued her on Amazon. Luckily, we were able to cancel the orders prior to them being filled and shipped! Lesson learned! PC parental controls were then implemented and the valuable lesson here is to never underestimate your child's abilities!
Aubrey interests include music (not hard rock) and she also loves to dance. She tends to obsess about her interests. Thus far, we've gone through Zsu-Zsu pets, TY Boo plush (in every size), My Little Pony, Angry Birds, Marvel characters, Star Wars, zoo animals, just to name a few. She watches very little TV (her choice) as we believe the display of the TV irritates her. Instead, she prefers to watch movies on her PC or phone. Her phone has no access other than the internet within range of wi-fi.
At the age of 18, Aubrey graduated with a high school diploma (certificate) and attended a prom for the Special Ed seniors and the Unified Sports peers! She now attends a post grad Transition Academy where she continues to learn valuable life skills. The academy staff also perform occupational assessments identifying Aubrey's strengths and weaknesses in an effort to match her with a potential job post Academy at the age of 21. Whether she will be employable is yet to be seen. She has learned how to wash and fold clothes, set a table, wash dishes, clean, and straighten merchandise on shelves within a store along with other social interactive activities - a great program! Throughout all of this, Aubrey is extremely fortunate to have a great support group around her. Several aunts, uncles, cousins, 4 grandparents, friends, instructors and paras that all adore her and have come to understand her and her "Aubreyisms". I share this lengthy story in hopes that some of you will take away something that you can use, identify with and hopefully understand that it is not all gloom. Aubrey, even though she has the speech and writing ability of a 3-4 year old, has quite a sense of humor and can understand more than one might think she is capable. She surprises us sometimes with comments and words that we never knew she had learned and she uses them appropriately! It's the little things in her growth and progress that helps to motivate us in supporting her in experiencing many of life's wonderful pleasures in this world.
Our philosophy is to keep going and never-EVER, think that your efforts aren't worth the time. Celebrate the small milestones and victories. While not all attempts will be successful, the ones that are, are priceless and will create memories for all of you that will last a lifetime.