Happy Halloween!!!! Please be safe and drive slower throughout the day, as many kiddos have half a day of school. Please remember to think kindly of the kiddos with special needs/diets when you see them out for the exciting day of fun! If you don't have a special treat for them, a smile and a note with uplifting words of admiration and encouragement could be a treat too! More ideas for special treats include; Gluten free candies, sugar free candies, cheap sunglasses, trinkets from Oriental Trading, pencils, light up or textured bounce balls, small playdoh, etc It depends on the kiddo and their special needs, but those are some ideas. For Kayli, even a special note would be great! You can't please everyone, but I would definitely stay away from anything with nuts in them (many are allergic, and it can be a fatal contact if exposed to tree nuts).
Even though Trisomy Syndromes are reportedly known for developmental delays (mental retardation), Kayli was born with a completely intact and typically functioning brain. Yep, you read it right...Kayli's brain was typically developed at birth, and her brain waves proved in normal range, with testing. At 4 months old, in a PICU (pediatric intensive care unit/room) after open heart surgery, Kayli had a cardiac arrest, with 32 minutes of anoxia (no oxygen, she died and came back to life). Although she survived, it was a rebirth for her in a sense, as we began a new journey of getting to know what adaptions Kayli thrives with, in her years of recovery. With the lack of oxygen, Kayli lost approximately 75% of her brain matter, and brain pathways, which resulted in seizures, or in explanation; a sudden disruption of the brain's normal electrical activity.
Seizures come in many different presentations (from staring to stopping breathing). Make no mistake though, all seizures are harmful, because the abnormal electrical activity forms a new pathway leading easier access for more seizures/damage to the brain. A neurologist once told me to picture a brain as an un-mowed yard. If you mow the yard from point a to b diagonally across the lawn in an irregular pattern, and leave the rest of the yard un-mowed, the next time you mow, it would be easier to cut the grass in the pathway already made, than to cut in a systematic way to reach a well groomed lawn. During seizures, our electrical brain waves will take the path of least resistance. This enhances the re-occurance of abnormal brain pathways and an unfortunate opportunity of normal brain electrical activity to travel in an overused, unorganized pathway, rather than a more organized and functional pathway. The damage becomes irreversible, and what once started as staring seizures, can lead to abnormal brain electrical activity which may alter breathing reflexes. Seizures can be deadly.
With seizures becoming commonplace, Kayli was diagnosed with Epilepsy. By definition, Epilepsy is a condition in which seizures are reoccurring. In being more specific of the type of seizure disorder Kayli has, under the umbrella of Epilepsy (seizure disorders in general), Kayli has Lennox Gestaut Syndrome, or LGS for short, which basically means a bunch of different types of seizures with no rhyme or reason. LGS is the most difficult seizure disorder to control. To get a more distinct picture of her brain pathways and this seizure disorder; picture a tangled ball of phone chargers, wires, headphones, gaming adapters, etc (we all have those in our homes, right?! lol). You could untangle one phone charger (with great stress, time, and exhaustion), only to find it doesn't have the functional end to it, and yet you'd still be staring down a large mound of wires jumbled together that go to all sorts of broken wires. Oh, and add in the fact that those wires are live and trying to turn something on, but instead are activating and conjointly turning on other wires that have no ends to them, thereby making irreversible dysfunctional brain pathways (see mowing the grass explanation above).
In an attempt to stop the seizure activity, Kayli was first put on a medication, Phenabarbital (Phenobarb for short). The medication tired her immensely, and caused a gross overgrowth of her gums. She teethed in a typical milestone time frame, but although her upper teeth broke through the bone, they did not break through the overgrowth of gums. Since teeth grow until they touch other teeth, and her gum covered teeth are not able to touch each other, Kayli's upper jaw is growing upwards, and her jaw alignment is greatly affected. She is now an open mouth breather as her upper jaw is growing upwards searching for her bottom teeth. This change in jaw angle, is bringing the back of her jaw down to the back of her throat, thereby crowding her epiglottis function (tissues at the back of the throat that separate airway from esophagus). Another major side affect for all seizure medications, is "new or worsening of seizures". How ironic that is, since we utilize the medications to STOP seizures when in actuality, they may cause seizures?! No wonder it is so hard to find the right seizure control medication cocktail! It is true though, pick any seizure medication, and look for the clause in the long list of side effects. With the list of trialed and failed seizure medications in hand, we opted to find a less harmful way of helping control Kayli's seizures.
The next (more natural) step in Kayli's journey to seizure control, was to place Kayli on the Ketogenic Diet. It is basically a diet that starves the brain of carbs (sugars) and alters the body function to use fats (Ketones) instead. While on the diet, Kayli continued with the seizure medications, and her seizures seemed to disappear. Although she was seizure free, she was never in Ketosis (her body had not switched to functioning off Ketones instead of Carbs) because her caloric intake was minimal (336 calories a day). She needed more volume/intake to reach the amount of Ketones to switch her body systems. Even out of Ketosis, the diet seemed to be working for her seizures, but it also almost killed her. We went through 3 Ketogenic teams to help monitor Kayli while on the diet, but all 3 teams failed Kayli. While on the diet, Kayli suffered with; starvation (she lost an extreme amount of weight and nutrients...her bones even became paper thin), de-compensated heart failure (not enough Potassium in the diet and she her heart was not able to compensate for the loss of electrolytes), and a lethal Potassium overdose that resulted in heart rates at 300 bpm (beats per minute), dropping to 30 bpm. The ER physicians stated Kayli's condition upon arrival was "incompatible with life"...nobody survives the lethal dose that was prescribed and administered to Kayli. After Kayli survived the 3rd life threatening affect of the Ketogenic diet, we dropped the Ketogenic diet, and found Kayli an new team of specialists!
Fast forward 4 months, Kayli is now on Keppra and Vimpat (maker of Keppra but a stronger seizure medication). Kayli is having suspicious seizure activity now, but her seizures appear a little different clinically, now. She used to roll her eyes an her heart rate and/or oxygen saturations would drop low. Now, her arms go out straight, her eyes roll, and she seems to go in and out of the seizures quickly, as if in clusters up to 5 minutes. There are times when I talk to her, and tell her not to go into the seizure, and somehow she appears to be able to control it, and doesn't go into the seizure. This is very strange, because nobody can control the electrical charges of a seizure.
Now that I've explained in depth, Kayli's seizure history, we have GREAT news of Kayli's near future!!!
Kayli will see a Periodontist (gum specialist) tomorrow, to evaluate her gums, and hopefully to make plans of lasering them back. If her gums are not too overgrown, the Dr. will be able to laser them back in his office, with local numbing agents! If her gums are too much, it would cause great amounts of pain, and then we would go back to Kayli's cranial/facial dr to put her under anesthesia in an OR. Let's hope she is able to make plans for an office procedure! More on the plan, after tomorrow's office visit!
Kayli went to her neurologist last week to discuss the new suspicious seizure activity. She has been straightening her arms, and rolling her eyes repeatedly for up to 5 minutes in what appears to be cluster seizures. We showed her neurologist this video at the tale end of what we thought may have been seizure activity.
Kayli's neurologist already suspected it was not seizure activity, but once he saw this video, he was even more sure Kayli was not presenting with new seizure activity, but rather having an episode of Hyperekplexia aka Startle Syndrome.
To confirm or deny Kayli has Hyperekplexia, she will undergo a 72 hour VEEG (video that tapes her clinically in conjunction with her brain wave activity) in our home. We will click a button when Kayli has these episodes, and the specialists will see if the documented EEG seizure activity coincides with these clinical symptoms. We expect they will not coincide with seizure activity, because twice with the old neurologist's VEEG results, we were confused as to how these episodes were not documented as seizures even though they clearly appeared to be, clinically. Hyperekplexia would explain that confusion of Kayli's prior results! Hyperekplexia would also explain how Kayli is able to control her seizures...she was calmed by my voice, and the extreme startling episode subsided.
The best news of the misdiagnosis in the suspicious seizure activity, is that Hyperekplexia does not cause permanent, irreversible damage to the brain like seizures do! We know Kayli DOES have a seizure disorder, but we do not see them clinically according to the previous VEEG's which means all these times we thought her brain was being damaged with seizures....it was likely, only the Startle Syndrome!!
We are just now learning about this disorder, and have asked Kayli's neurologist many questions already!
Q: If the suspicious neurological episodes aren't seizures, does that mean her seizures are under control?
A: Yes
Q: If they are under control, and were before we increased her meds for these new suspicious neurological episodes, can we decrease her seizure medication again?
A: Yes
Q: What can we do to help Kayli with Hyperekplexia?
A: Calm her out of the extreme startle state
Q: Are there medications to help keep her Hyperekplexia episodes to a minimal?
A: Yes, Valium and other Benzodianzepines
Q: Kayli is allergic to that drug family. Are there any other options?
A: Yes, there is another case where the boy had more episodes in the winter than the summer, so the family put warm blankets on him at the beginning of the episodes. It reduced his Hyperekplexia activity by 75%! You have to find what calms Kayli, and have it readily available to her in the event of a flare up.
We are researching more about the syndrome online, and have found that the syndrome is suspected to be a cause for babies dying of SIDS. Babies who have the syndrome tend to hold their breath during the extreme startling episode, and without breath, they die of asphyxiation. Fortunately, Kayli does not hold her breath while actively in a extreme startle state. It is in Kayli's best interest that we find a way to prevent Kayli from startling, by figuring out her triggers. It is also best that we find a way to calm her, once in the extreme startle state.
For more information of Hyperekplexia aka Startle Syndrome, please click here Startle Syndromes.
Kayli and I went to her ENT dr's appt this morning without a nurse. Niko (Kayli's brother) was late to school, and I had to pull over several times while driving, to suction Kayli, but WE MADE IT there and back!!! And the end result is worth all the challenges we had today!!! Kayli is now officially allowed to be on the Passy Muir all day (while awake and as tolerated), without oxygen! She will continue to be on the oxygen as needed, as well as when sleeping,but this is a wonderful step in the right direction!! Kayli's scope revealed larger tonsils and a minimally collapsing upper airway (mild Tracheomalacia), so decannulating (taking her trach out) is not an option that any of us are comfortable with doing at this point. We feel that although Kayli may be able to function without the trach, it would put her at higher risks, and make her life a lot harder when she is sick or having an operation. For now, Kayli has again surpassed all expectations!! One of our new goals for her is to be more consistent with swallowing (a reflex she lost completely during her anoxia/32 minutes of death). She has already relearned the swallowing reflex, but we are now going to push forward and try to help her be more consistent, with therapies. Swallowing could lead to 1. secretion control 2. eating 3. more control with her upper airway 4. talking 5. possibly hearing The ENT dr would like to do a scope while under sedation, but this would be an informative test, so we will wait until Kayli has another procedure, then will piggy back it. The ENT said that in time we may want to cap Kayli (put a cap on the trach, blocking the trach air exchange), but the Passy Muir will work with helping regain control, and teach Kayli how to strengthen her tone and vocal chords, so we put off the capping process for now. Overall, it was an informative, progressive, and encouraging appointment, while setting new goals for Kayli!
The purple circular thing on her trach (inside the neck brace) is her Passy Muir Valve
