Tuesday, August 29, 2000

In/Exhale - Table of Contents

For Easy Navigation of the story thus far:

**If you're new to the story, you might want to read the Introduction first, so you're not too confused as to what I'm doing here or why I use dates for each part!**





Season One:

Episode 1: August 21, 2000 - Part I - Meet Kai, Jon, and Renee for the first time.

Episode 2: August 21, 2000 - Part II - Meet Nikki, Kai's fuck buddy *sex scene

Episode 3: August 21 2000 - Part III - Get some insight into Jon's character

Episode 4: August 25, 2000 - Meet Renee's roomate, Diane; Kai and Nikki go to a party and things get... "fucked up" *sex scene

Episode 5: August 26, 2000 - Brotherly Bonding Time! - Get to know Jon & Kai better, with some insight into their pasts.

Episode 6: August 27, 2000 - Jon meets with his ex, Jenny, and we learn about Renee's past and why she's come to Iowa.

Episode 7: September 1, 2000 - Part I - Renee finds Kai after not seeing him for a week and they finally sit down for coffee together, and Kai is realizing hiding his past is going to be much harder than he realized.

Episode 8: September 1, 2000 - Part II - Kai tries to find consolation in pie (and Nikki), fearing that the attack he had earlier in the day may be a sign of trouble.

Episode 9: September 2, 2000 - Part I  - Kai is stressing about school and runs into Renee at her new job; he snags her telephone number, then meets an old friend, Jake, at the diner. Before Kai can meet up with Renee again, he gets a very unexpected telphone call.

Episode 10: September 2, 2000 - Part II  - Kai decides he wants to give a relationship with Renee a try and agrees to meet Becca. He also visits Nikki to break things off, but something unexpected happens. . . .

Episode 11: September 3, 2000 - The aftermath of the attack; Nikki stays with Kai and Kai and Jon have some brotherly bonding, but Jon is beginning to be concerned about his brother. . . .

Episode 12: September 4, 2000 - Part I - Kai and Renee study together; Jon gets a date. Kai and Renee kiss for the first time.

Episode 13: September 4, 2000 - Part II - Kai has a severe MLS attack.

Episode 14: September 8, 2000 - Part I - Kai sees his pulmonlogist, who's mystified by Kai's symptoms; Jon expresses his concern about his brother's mental health; Kai finally meets up with Becca

Episode 15: September 8, 2000 - Part II - Kai deals with the fall out of his meeting with Becca; Jon meets with an ASL tutor.

Episode 16: September 8, 2000 - Part III - Kai turns to Nikki for help in his crisis; Jon visits his parents grave and we learn of one of the Taylor family secrets that could have significance in Kai's life.

Episode 17: September 9, 2000 - Part I - Kai's nightmares grow worse; Nikki assesses her feelings for Kai; Kai pleas with Renee to give him another chance to explain himself.

Episode 18: September 9, 2000 - Part II - Kai has his first session with Dr. Miller, and goes to Nikki for comfort later.

Episode 19: September 9, 2000 - Part III - Kai has possibly his worst MLS attack ever, landing him in ICU and causing him to miss his meeting with Renee.

Episode 20: September 10, 2000 - Vicky takes care of Jon; Nikki visits Kai in ICU.

Episode 21: September 12, 2000 - Part I  - Kai is finally woken up, but his situation is still serious; Jon and Vicky share a moment.

Episode 22: September 12, 2000 - Part II - Kai freaks out; Nikki's past comes to get her.

Episode 23: September 13, 2000 - Part I - Kai gets some bad news about his legs; Jon deals with an difficult patient.

Episode 24: September 13, 2000 - Part II - Nikki goes back to some old habits; Jon sees an unexpected side of his brother; Nikki reflects on the first time she and Kai had sex. *sex scene

Episode 25: September 15, 2000 - Kai finally returns home and learns a bit about his mother; Renee renews her determination to find Kai.

Episode 26: September 18, 2000 - Kai's second session with Dr. Miller.

Episode 27: September 22, 2000 - Part I - Kai attempts to return to class, and he and Renee just miss each other.

Episode 28: September 22, 2000 - Part II - Nikki returns, and Jon and Vicky go to a party and have some fun. *sex scene

Episode 29: September 23, 2000 - Kai has a mental breakdown that brings him closer to Jon and helps him uncover the origin of one of his worst nightmares.

Episode 30: Interlude - from Kai's Journal #1 - Kai's POV: filling us in on what happens between Sept 23 and Oct 26 and gives us some insight into his head.

Episode 31: October 26, 2000 - Part 1 & Part 2 - "Season Finale" - Renee finally tracks down Kai and finally learns the truth about his disability.


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Season Two:

Episode 32: October 28, 2000 - Part 1 - ASL Story Hour at Lost Apple Books, with Kai interpreting; it's Renee's first exposure to Kai signing.

Episode 33: October 28, 2000 - Part 2 - Renee & Kai share lunch after story hour, and Kai teaches her some sign. Jon & Kai have a moment.

Episode 34: October 31, 2000 - Part 1 - Kai & Renee spend Halloween together, including a trip to County House. *sex scene

Episode 35: October 31, 2000 - Part 2 - Halloween continues as Kai has a blast from his past at the Jonesville Deaf Halloween Party.

Episode 36: November 2, 2000 - Kai has some potential health concerns & worries about his history midterm; David helps Kai study and Jon gets some good news.

Episode 37: November 3, 2000 - Kai survives his midterm and he and Re have a quiet night together.

Episode 38: November 4, 2000 - Re spends the night at Kai's apartment and learns a few of Kai's "secrets."

Episode 39: November 5, 2000 - Kai and Renee have their "first" (official) date and get to know each other a little better.

Episode 40: November 8, 2000 - Part 1 & Part 2 - Kai finds out his history midterm results and tells Renee about his transplant; Vicky gives Jon some life-changing news.

Episode 41: November 11, 2000  - Part 1 - Kai drops by Renee's for their movie night and gets grilled by Diane, then has a surprise.

Episode 42: November 11, 2000 - Part 2 - Vicky tries to talk to her mom about Jon; Kai and Renee finish their date and grow a little closer.

Episode 43: Flashback: June 15-21, 1996 - Flashback to four years ago, when Jon and Vicky were just getting to know each other and Jon and Kai reunite for their first time in twelve years.

Episode 44: November 17, 2000 - Part 1 - Kai's cleared to walk again, so he and Renee go to the movies together.

Episode 45: November 17, 2000 - Part 2 - Kai and Renee finish their date and decide to take their relationship to the next level. *sex scene

Episode 46: November 18, 2000 - Part 1 - The morning after. Kai takes Re to the airport. Jon joins Kai at the pool. *sex scene

Episode 47: November 18, 2000 - Part 2 - Kai and Jon swim together. Kai has a panic attack in public. Renee arrives in New Orleans. Megan confronts David about his relationship with Kai.

Episode 48: November 21, 2000 - Part 1 - Kai sees Dr. Miller again and admits some of his biggest fears. Jon makes his presentation to the transplant committee.

Episode 49: November 21, 2000 - Part 2 - Dr. J presents to the committee to Jon's devestation; Kai asks David to steal his mother's medical records; Jon and Kai fight.

Episode 50: November 23, 2000 - Part 1 - Thanksgiving begins with the brothers each struggling in the wake of their fight. Kai spends the morning at Walmart with David and runs into an unexpected person. In New Orleans, Renee and JP clash. *sex scene

Episode 51: November 23, 2000 - Part 2 & Part 3 - Thanksgiving continues. Jon is introduced to Vicky's enormous family and learns a secret about her past. Kai struggles keeping his sanity, and Jon comes to his rescue.

Episode 52: November 23, 2000 - Part 4 - Thanksgiving ends. Kai struggles with the events of earlier in the day, and Jon is unsure how to help. David decides to find Ann Taylor's files for Kai.

Episode 53: Flashback: June 26, 1996 - Kai's 18th birthday, and the brothers spend their first day together, though things don't go nearly as smoothly as Jon hoped.

Episode 54: November 24, 2000 - Part 1 & 2 - Kai continues to suffer from flashbacks that bring him to the brink, but a long session with Dr. Miller gives him hope.

Episode 55: November 24, 2000 - Part 3 & 4 - As Kai continues to battle his demons, he confesses to Jon why he chose the name "Fox"; Vicky makes a suggestion, and Kai and Renee have a momentous phone call.

Episode 56: November 25, 2000 - Season Finale - A light at the end of the tunnel? Both Kai and Renee make tough decisions about their futures.
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Season Three

Episode 57: Flashback: May 19, 1994 - Go back to when Kai was nearly 16 and David had aged out of the system. See how he handles losing his best friend.

Episode 58: January 26, 2001 - Part I - A sweet reunion: Two months after the end of Season 2, Renee and Kai finally have a day together.

Episode 59: January 26, 2001 - Part II - David teaches Renee some ASL. The trio plays some board games, and Renee finally tells Kai something very important. Renee witnesses her first of Kai's panic attacks.

Episode 60: January 26, 2001 - Part III - David accidentally reveals something upsetting about Kai to Renee. The mystery of Ann Taylor's medical finals comes up, and we see how the last few months have impacted the two brothers.

Episode 61: January 27, 2001 - Part I - David takes Kai to a Deaf bowling social to try to prepare him for the start of class.

Episode 62: January 27, 2001 - Part II - The bowling social continues, and Kai discovers something amazing about his relationship to the Deaf community. Jon and Kai resolve their previous disagreement.

Episode 63: January 29, 2001 - Part I - Kai braves his first day of class with Renee's help.

Episode 64: January 29, 2001 - Part II - The first day of class continues, with a revelation that could potentially change Kai's life forever.

Episode 65: January 30, 2001 - Part I - Kai sees Dr. Miller to resolve some of his feelings regarding his hearing loss. Then he starts off a day of testing by having his blood drawn, but things don't go as smoothly as they should.

Episode 66: January 30, 2001 - Part II - Kai sees his dermatologist for his anniversary check-up and things don't go so smoothly. Jon confesses his fears and concerns to Vicky.

Episode 67: January 30, 2001 - Part III - Kai has a consult with a psych resident to determine his fate.

Episode 68: Flashback: December 24, 2000 - Part I & II - Fresh out of the hospital due to his GI infection, Kai agrees to spend Christmas Eve with Jon at Vicky's house.

Episode 69: January 31, 2001 - Part I & II - Renee visits Kai in the hospital and he tells her about his hearing loss. Megan experiences her first medical emergency interpreting situation. Vicky's good intentions go array when she takes Kai home with her.

Episode 70: February 1, 2001 - Part I - Jon and Kai get into a fight and Kai swims through his session with Dr. Miller. Vicky and Jon find out the sex of their baby. Kai spends some more time with Steve, then Martin.

Episode 71: February 1, 2001 - Part II - Kai reveals some of his past to Martin. David has an important job interview that doesn't go exactly as he'd practiced it would due to an unforeseen complication.

Episode 72: February 1, 2001 - Part III - Kai talks to Martin about his time pre- and post transplant in a way he never has with anyone before. Vicky calls her sister for consolation after an upsetting day, and Jon surprises her. *sex scene

Episode 73: February 2, 2001 - Part I - Kai heads back to school with the weight of his fight with Jon and all the stress of the past week, combined with a lack of sleep, all coming to a head. His anger bleeds out to those he cares about, but he decides to meet with his advisor to plan out his academic future.

Episode 74: February 2, 2001 - Part II - Kai struggles through the rest of the school day, relapsing on his self-harm behavior and running into feelings of desperation, isolation, and hopelessness that threaten to drive him and Renee apart. Feeling a gulf between her Kai, Renee reluctantly confides in someone. *sex scene

Episode 75: February 2, 2001 - Part III - The ASL class. Kai slips his mask back on and into teacher mode, meeting and bonding with Steve's cousin. Meanwhile, Renee has her doubts about her future with Kai, and David reassures her.

Episode 76: February 2, 2001 - Part IV - The long day comes to a close and while Renee learns of something that could potentially change Jonesville forever, she's determined to stand up for herself and demand Kai communicate with her.

Episode 77: February 3, 2001 - Part I - Kai's make-up session with Dr. Miller covers a lot of ground, including his self harming, his doubts about his future and ability to recover, and more. Dr. Miller gives him hope that maybe he can move forward after all.

Episode 78: February 3, 2001 - Part II & III - Kai finally tells David about his hearing loss. His honesty extends to Renee, and the two reforge their relationship into something stronger, determined as long as they're together, they can survive anything.

Episode 79: February 3, 2001 - Part IV - Jon and Vicky face her parents with the news of her pregnancy. Jon finally calls his adoptive father, and he and Kai make amends.

Episode 80: Flashback: August 9, 1982 - Bryan takes Jon and Kai to the park, and they spend some rare time together.

Episode 81: February 6, 2001 - Part I - Jon has a mostly solo session with Dr. Miller in which he explores some of his issues of guilt and worry. The two brothers arrive at a solution to their living situation.

Episode 82: February 6, 2001 - Part II - Kai sees the ENT and audiologist and finds out how extensive his inner ear damage is, and whether or not it's permanent.

Episode 83: February 6, 2001 - Part III - Kai deals with his emotions after learning his hearing loss is permanent, but he and Jon ultimately become closer and face their future together.

*hiatus*

Episode 84: February 7, 2001 - Part I - Kai faces his first day of class with his new hearing aids.

Episode 85: February 7, 2001 - Part II - Kai's day continues. He braves interpreting, takes a leap toward an education major despite his anxiety.

Episode 86: February 7, 2001 - Part III - Kai's pumped after his ed class and buys his books, then runs into Steve and binges on Oreos. He crashes and burns, and thankfully Renee is there to pick up the pieces.

Episode 87: February 8, 2001 - Part I - The morning after, Jon grills Renee on Kai's strange behavior, and continues to reassure Kai she'll always be there for him.

Episode 88: February 8, 2001 - Part II - Renee accompanies Kai to his session with Dr. Miller, who is concerned about Kai's erratic moods and suicidal thoughts. After, Kai has his appointment with his nutritionist, who confronts him about his poor eating habits.

Episode 89: February 8, 2001 - Part III - Kai meets with his brain doc and gets some encouraging news. He attempts to distract himself from his bad thoughts, but it's easier said than done. When he ends up at Lost Apple, Art takes him on an eye-opening field trip.

Episode 90: February 8, 2001 - Part IV - Kai realizes that Art has been more of a presence in his life than he realized. He spends some time with Martin and reunites with someone from his past.

Episode 91: February 8, 2001 - Part V - Kai has dinner with the Gomezes. Martin has a crisis. Kai spends the night with Renee.

Episode 92: February 9, 2001 - Part I - Kai wakes up to a horrible nightmare and struggles to let Renee in, but eventually tells her about his donor and his feelings about how he doesn't deserve his new lungs. They spend the morning together. Jon consoles Inez and reassures her that Martin will be OK and he may have a second chance at a transplant after all.

Episode 93: February 9, 2001 - Part II - Kai experiences his first interpreted psych class and spends the afternoon with Steve before he's pulled away to help Martin.

Episode 94: February 9, 2001 - Part III - Kai rushes to help Martin, and in the process encounters someone surprising from his past that pushes him to the brink.

Episode 95: February 9, 2001 - Part IV - Kai drives around town in an attempt to outrun his demons, and ends up at the Hitchhiker, where alcohol and drugs mix in dangerous ways. Fortunately, an old friend shows up to help.

Episode 96: February 10, 2001 - Part I - Kai deals with the aftermath of his blackout as he and Jon head to Omaha to visit Harbinger Clinic. Renee expresses her fears to Diane, who gives her advice.

Episode 97: February 10, 2001 - Part II - Kai and Jon's visit to Harbinger begins.

Episode 98: February 10, 2001 - Part III - Kai and Jon's tour of Harbinger continues. Kai struggles against his lust, depression, and anxiety.

Episode 99: February 10, 2001 - Part IV - Dr. Miller finally learns the truth of Kai's past. Jon attempts to cheer Kai up after the long day at Harbinger.

Episode 100: February 11, 2001

Episode 101: February 12, 2001

Episode 102: February 14, 2001

-End Season 3-
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Supporting Documents:

Introduction
Faux-Wikipedia Entry: FS
Faux-Wikipedia Entry: MLS
Previously On... (Synopsis of Episodes 1-13)
Previously On... (Synopsis of Season Two)
Previously On... (Synopsis of Season 3, Part I)
On Writing ASL
ASL Lessons
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Sunday, August 27, 2000

In/Exhale - Dev Soap Opera - Introduction

Hello! Some of you guys may know me from the PD message board as Ximena. If you do, you may have seen me mention my "soap," In/Exhale, which I've been writing for about twenty years. Yes, you read that correctly.

After sharing bits of it with some of the girls from the board, I've decided it was time to share it with more of the dev community, so here I am. I'm currently working on several dev novels for publication, but I thought it might be nice to share this project with you guys since I can't really share those other stories just yet!!

I call this a soap because it follows one character, Kai (Taylor) Fox over the course of his life, along with some of his friends and acquaintances that come and go as the story progresses. Like a soap, it can tend toward melodrama at times and doesn't have a firm "beginning" or "end"; the story just keeps going.

In/Exhale - Faux Wikipedia Entry - FS

This is a faux Wikipedia-style entry for FS for those who are interested in learning more about the disease. The article was obviously written after the current storyline, but I've included it for your convenience. ;).

Note: All hyperlinked words are linked to actual wikipedia articles, so you can read more about certain terms if you're so inclined!

- CA

##############################################

FS

FS, previously known as FOX Syndrome or Failure of X component, is a congenital genetic obstructive pulmonary disease of which little is known. Neither the mechanism nor genetics of the disease are well understood, and there is some debate in the scientific community as to whether FS should be classified as a disease separate from other pulmonary conditions such as asthma and cystic fibrosis.


Symptoms & Signs

The primary symptoms of FS are reminiscent of severe, brittle asthma, including acute paroxysms of wheezing, chest pain and congestion, accompanied by a corresponding drop in forced expiratory volume in one second (FEV1), usually the result of environmental triggers such as allergens, ozone, cigarette smoke, and cold air. However, unlike most asthmatics, FS patients suffer from greater perfusion discrepancies, often suffering from significant drops in oxygen saturation (SaO2) not normally seen in traditional asthma; in fact, it is not uncommon for FS patients to have abnormally low (>90%) SaO2 even outside an exacerbation. As a result, clubbing deformaties of the fingers are commonly seen in FS patients, a sign typical of those with cystic fibrosis, but not asthma.

Clubbing of Fingers


Although psychological and physical stress has been discovered not to play a role in asthma attacks, the slightly different mechanism of FS attacks suggest that stress may affect exacerbations of the disease, lending creedance to the hormonal mechanism of disease theory (see below).

FS patients also often exhibit excess mucus production in the airways. Although the mechanism for this is not related to CF, the resulting symptoms and sequlae are similiar. These include excess coughing, severe chest congestion and difficulty clearing secreations, and increased susceptibility to pneumonia and fibrosis.

Airways narrowed by inflammation and excess mucus increase the work of breathing, so that many patients must use accessory muscles to breathe, and in advanced disease with the addition of fibrosis, may suffer from fatiague of their respiratory muscles so that mechanical support may be necessary. Additionally, these effects (narrowed airways and muscle fatigue) sometimes lead to aphonia or dysphonia in some patients, particularly in childhood.

Some patients also seem to exhibit certain hemotalogical abnormalities that may affect both oxygen saturation capacity and immune function, although it isn't yet clear if these abnormalities are comorbid conditions or symptoms of FS itself.


Mechanism of Disease

The exact mechanism of FS is unknown, although several theories exist. One suggests an autoimmune model, in which dysfunction of the patient's own immune system is the cause of symptoms. However, limited studies suggest that even with immunosuppression, symptoms aren't entirely resolved, so that it may be possible immunological problems are only partially responsible for symptoms.

The second theory is hormonal, suggesting that some errant feedback loop in the body's inflammtory response (perhaps combined with a heightened sensitivity to inflammatory mediators such as histamine) might be responsible for the asthma-like attacks as well as the excess mucus production, although research in this area is still in the early stages.


Diagnosis

Most patients present with symptoms of respiratory distress or recurrent pneumonia in infancy or early childhood, with most patients diagnosed as either severe, brittle asthmatics or occasionally, with cystic fibrosis.

Because of the complicated nature of the disease and the mystery behind its mechanism, diagnosis of FS is challenging, and it is believed to be vastly under-diagnosed, with many asthmatics - particularly those exhibiting uncharacteristic fibrosis - likely being misdiagnosed FS patients.

A thorough history, combined with pulmonary function tests and blood saturation, along with lung biopsy and sputum analysis are the best means of arriving at a diagnosis of FS, especially if cystic fibrosis and asthma can be ruled out.

The physician who is faced with intractable asthma, particularly when associated with signs of chronic hypoxia (such as routinely low oxygen saturation and clubbing) and recurrent pneumonia, may consider a diagnosis of FS.


Treatment

Current treatment for FS is similar to that of asthma and CF. Most patients respond decently to traditional asthma medications, including oral and inhaled corticosteroids, and short- and long-term acting beta2-adrenoceptor agonists, anticholinergic agents, delivered via inhaler (metered-dose or dry-powder) or nebulizer. Theophylline has also shown to be effective in some patients.

FS patients should monitor their peak flow regularly, as changes can signal an upcoming attack. In addition, many patients may benefit from a portable pulse oximeter to be alert to any signs of oxygen saturation changes, even before symptoms present.

Additionally, amphigarol, the first medication approved by the FDA to treat FS, can ameliorate excess mucus production and help minimize opportunistic pulmonary infection. Some patients, particularly those with muscle fatigue, may benefit from cough assistance, either via manual percussion or machine to aid in loosening and expelling secretions.

Oxygen, delivered via mask or cannulae (or via transtrachael distribution in more advanced disease), may also be helpful in easing dyspnea and discomfort and resolving cyanosis.

In later stages of the disease in which extensive fibrosis has lead to significant lung dysfunction, and in cases of muscle fatigue, ventilary support via noninvasive (bipap) or invasive (endotracheal intubation) mechanical ventilation may be needed in the short- or long-term. However, because of the prepensity for excess mucus production, intubated patients must be carefully managed and suctioned frequently to prevent mucus accumulation and plugs.

It is still unclear whether lung transplantation (either a single or double-lung transplant) can be beneficial in the long-term for FS patients, as few patients have undergone successful transplantation.


Prognosis

Because FS patients are susceptible to recurrent pneumonia as well as fibrosis, in addition to chronicly low SaO2, lifespan for most is short, with many patients succombing in their late teens to twenties. Death results from asphyxiation as a result of an acute attack, sepsis due to infection, organ failure due to insuffienct perfusion, respiratory failure due to bronchiolitis obliterans, or secondary heart failure as a result of pulmonary insuffiency.

Patients may experience secondary effects due to oxygen deprivation, such as brain and organ damage, especially if not treated appropriately.



Dr. Jon Taylor

Along with Drs. Benjamin Johnsen and David MacDonald, Dr. Jon Taylor is responsible for identifying FS as a distinct condition in the mid-90s while still a fellow. Today, he runs the Jonesville Memorial FS Clinic and Research Center in Jonesville, IA, which focuses on the research and treatment of the disease. In 2008, partially due to additional grants, the clinic was able to open its own building with dedicated labs and exam rooms to expand its research and treatment of patients with FS.

Dr. Taylor and his staff will diagnose and workup a treatment plan for any patient who walks through the clinic doors, regardless of their ability to pay.

In/Exhale - Faux Wikipedia Entry - MLS

This is a faux Wikipedia-style entry for MLS for those who are interested in learning more about the disease. The article was obviously written after the current storyline, but I've included it for your convenience. ;).

Note: All hyperlinked words are linked to actual wikipedia articles, so you can read more about certain terms if you're so inclined!

- CA

 
##############################################

MLS

MLS, previously known as “Muscular Latency Syndrome,” is a congenital, genetic, progressive neuromuscular disease. Although the mechanism of disease is well understood (dysfunction of acetylcholinesterase at the neuromuscular junction, see below), the genetics are not. MLS tends to affect males more than females, so it's likely sex-linked, but scientists haven't yet identified the exact genes involved, and suspect it is probably due to multiple genetic factors.


Symptoms & Signs

The disease usually presents in early childhood, although due to its rarity, it is often misdiagnosed, or goes undiagnosed until later childhood, as early symptoms can often be mistaken for "growing pains." Children experience muscle pain and cramping, usually beginning in the lower limbs and working upward over time. Pain is often accompanied by muscle weakness, and ultimately paralysis. Although early in the course of the disease reflexes may be intact, over time reflexes diminish and ultimately disappear in the affected areas.

Most children need some kind of orthotic or other walking aid early in life, with the majority using wheelchairs by their late teens to mid-twenties.

In stage I of the disease, only the skeletal muscles are affected, usually beginning with the feet, progressing upward to the ankles, calves, thighs, hips, and then arms in a distal fashion. Progression is not perfectly symmetrical. Patients experience paroxysms, often precipitated or exacerbated by emotional or physiological stress, in which they experience asynchronous, asymmetrical fasciculations (muscle spasms), often accompanied by myotonia (delayed relaxation of the muscle due to overstimulation). Occasionally, spasms can be severe (and violent) enough as to be considered tetantic. Especially in the early stages of the disease, attacks are often followed by extended periods of extreme muscle weakness and hypotonia. Repeated overstimulation of the neuromuscular junction results in decreased sensitivity to acetylcholine, ultimately leading to paralysis of the affected muscles.

In stage II of the disease, smooth muscle and cardiac muscle (as well as the diaphragm) are affected, resulting in cardiac (bradycardia), circulatory (hypotension), and respiratory dysfunction (bronchoconstriction and increase mucosal secretions), in addition to GI disturbances and incontinence. As in stage I, the disease is progressive, with some patients losing function more quickly than others. Once a patient enters stage II, lifespan is usually no more than five years, with most dying of respiratory or cardiac failure.


Mechanism of Disease

The symptoms of MLS are caused by a defect in acetycholinesterase, the enzyme responsible for breaking down acetylcholine, the primary neurotransmitter involved in muscle contraction.

In normal muscle contraction, a nerve impulse results in the release of acetylcholine, which stimulates the muscle to contract. Acetylcholinesterase is then released to rapidly (and efficiently) metabolize acetylcholine in order to terminate the contraction.

However, due to the dysfunction of acetylcholinenesterase in the neuromuscular junction of MLS patients, acetylcholine is not broken down efficiently, causing it to build up and resulting in overstimulation of the muscle.

Although acetylcholine is found in the central nervous system, it is unaffected in MLS, as the defect is only in the neuromusclar junctions and acetylcholine does not pass the blood-brain barrier. This distinguishes MLS from other acetylcholinesterase-deficiency syndromes or neurotoxin poisoning such as organophosphate poisoning.

How the disease progresses from stage I to stage II is not fully understood, but it is theorized that it may have to do with a decrease in quality of acetylcholinesterase over time, perhaps due to secondary factors affecting acetylcholinesterase production.

In some very rare cases, patients actually produce and release more acetylcholine than normal, exacerbating symptoms, and leading to seepage of acetylcholine into the blood stream. In these patients, excess acetylcholine can reach areas of the body normally unaffected by the disease (at the current stage), such as the blood vessels, heart, diaphragm, and GI. These patients thus don’t present as pure stage-I or stage-II patients, but rather as a hybrid of the two during severe exacerbations. Although with current enzyme treatments this form of the disease is more easily managed, it is considered a more severe presentation than traditional dual-stage MLS.


Diagnosis

Before the realization that acetylcholinesterase deficiency was the mechanism of disease, diagnosis of MLS was tricky, with many patients being misdiagnosed as having cerebral palsy or simply muscular dystrophy of unknown etiology. Diagnosis was often one of elimination, after other disorders had been ruled out.

Today, a simple blood test for acetycholine (along with history) is often enough to make a diagnosis of MLS.


Treatment

Until 2006, treatment was largely devoted to maximizing function and minimizing pain through physical therapy and various muscle relaxants. Today, however, patients have access to enzyme-replacement therapy, which has revolutionized treatment of the disease.

Much like insulin for diabetics, MLS patients can dose themselves with replacement acetycholinesterase, decreasing blood and local acetylcholine levels, and minimizing symptoms. Early studies indicate that children who are diagnosed early and who begin rigorous treatment with enzyme replacement can minimize symptoms enough as to lead nearly normal lives. So far, early evidence indicates that enzyme replacement can vastly extend the lifespans of those with the disease, since stage II onset is greatly delayed and even possibly diverted in some patients.

However, access to enzyme therapy is limited due to the inherent instability of the enzyme and difficulty in producing it en masse, meaning many MLS patients must suffer without it until advances can be developed in its production, distribution, and cost.

Many patients, especially those suffering from the rarer variant in which excess acetylcholine is produced, can benefit from a low-choline diet, which minimizes the body’s ability to synthesize acetylcholine. However, acetylcholine is essential for proper nerve function (and choline is an essential nutrient), and thus cannot be completely eliminated from the diet. Likewise, due to the effects severe shifts of acetylcholine can cause, dosage of enzyme therapy must be carefully monitored and adjusted to prevent untoward side effects.


Dr. Ira Schwartz

Considered one of the foremost experts on MLS in the world, he founded a research and treatment clinic in New York City in 1980, devoted to researching new treatments for the disease as well as training nurses and therapists to ameliorate the lives of those afflicted by the disease. Largely due to a significant influx of private funding in 2005, Dr. Schwartz was able to develop an enzyme-replacement therapy, the first true treatment for MLS. He currently has expanded his clinic to both increase the amount of research as well as number of patients under his care, and is currently working on an improved enzyme treatment. In addition, his researchers are currently exploring the possible genetic origins of the disease in the hopes of one day finding a cure.

Saturday, August 26, 2000

On Writing ASL

 
You’ll see a lot of ASL in In/Exhale, especially in Season 2. Because ASL is a visual language (with no standard written form), it has to be represented in English in some way. Of course, you can never fully represent ASL in written words, but I try my best to convey this beautiful language as best as I can.

You’ll see me do so in several ways:


1- Descriptions of signs. This happens occasionally when we’re in the POV of a character who doesn’t know ASL, and I’m describing what they’re seeing as they watch the signs. Sometimes, they’ll be able to clearly see individual signs, other times, not so much. I’ll also use this occasionally when I’m in a character’s POV who does know ASL to help the reader appreciate more what the signs look like.

Example: Draw the drapes,” Kai said as he signed, making an outline of curtains in the air with his spread fingers, bringing them out, then down. Next, he held his hands up, flat, palms out, bringing  them together so his thumbs touched.


2- Descriptions of body language/facial expression. ASL is a visual language, and a lot of its grammar and meaning comes from body language and facial expression (these are called Non-manual Signals, or NMS). For example, eyebrow position can tell you if you’re asking an open-ended question, a yes/no question, or the topic of a sentence. Body position can indicate you’re asking a question, you’re saying “and,” and more. Negating a sentence or sign can be as simple as signing while shaking your head. Expressing a modifier (as in, something is “really” or “very”) can be done through facial expressions and the way you sign a particular word.  I’ll do my best to convey this information in the descriptions from time to time (especially when important), but you might also see me use bold to indicate a modifier when writing in English, or an exclamation point after a glossed word to illustrate the same point.

Example: “MAN VERY-TALL, WHEELCHAIR, HAIR YELLOW!, EYES BLUE!” or “I really want to learn,” Renee signed, doing her best to put her emphasis on the ‘want’ to show how much she wanted to learn.


3- English. This is what you’ll see most, especially for longer conversations, because it’s just easier for the reader. I recognize that English is a denser language (in terms of its lexicon) than ASL. I also recognize that some words in English are the same, yet are represented by different signs in ASL depending on meaning/context (like “love” and “like,” for example). However, I’m not going to stress too badly over things like “there is no sign for ___” - because a single sign can have a lot of equivalent meanings in English, and some words are fingerspelled if no sign exists. If I feel like pointing out the differences between English and ASL are important, I will, but keep that in mind. ASL, because it is another language, will always be represented in italics.

Example: I don’t know. Maybe someday,” Kai signed.

I could have easily glossed that, too, but reading a lot of glossing can be cumbersome, especially if you’re not familiar with ASL, so I try to limit when I use that.


4 - Visual descriptions of ASL storytelling. Along these lines, I’ll try to convey the visual nature of ASL as much as possible. Part of what makes writing ASL in English so difficult is a lot of information is portrayed in ASL in a way that you can’t fully convey in English. I’ll do my best to try to make this come through in the text whenever possible, to give you a better sense of what a particular conversation would look like.

Example: Besides, Megan has a thing for strays, so you won’t be the only one there besides us.” He indicated Megan’s affinity for those without families to spend the holiday with by first signing MY HOUSE, then using a classifier for a “person” (the handshape for “D,” index finger standing up) with his left hand, moving it around in front of him in a semicircle, while he used his right hand to “pluck” them in the sign for pick/find toward the space where he’d drawn his house earlier, as if she were literally plucking strays up and putting them in their house.


4- Glossing. It is possible to write ASL--kind of. It’s called “glossing.” You use a capital English word to represent the sign. If the sign encompasses more than one English word, you hyphenate, like DON’T-KNOW or DON’T-WANT or CLOSE-DOOR. In true glossing, you have a line above the words that will indicate NMS.
 
Example: The English sentence "I don't understand" could be glossed this way:
 
_____________N
UNDERSTAND.

 
Where the "N" above means you negate the sentence by shaking your head and frowning.

Because, as I mentioned above, glossing can hurt readability (and still doesn’t fully capture the visual nature of ASL), I don’t want to use it too much. For example, ASL uses a very different word order than English; the topic usually comes first, adjectives usually follow the noun, and question words are at the end, rather than the beginning, of most sentences. Additionally, concepts like “because” are usually framed in rhetorical questions, so the English sentence “I’m going to the store because I needed milk” might be said in ASL like, “STORE I GO WHY? NEED MILK.

Also, in true glossing, you indicate a fingerspelled word with the prefix “fs,” so: “fs-MUTE” would mean that the word was spelled out. I’m going to stick to the more Englishy convention of either saying in the tag that a word or words were fingerspelled, or write them like this: “M-U-T-E” as I think that’s more readily understandable by more readers.

Also, keep in mind that some words are fingerspelled instead of signed for emphasis. I’ll try to make a note of this whenever it happens in the text.

Additionally, I'm not an expert on glossing, and true glossing is impossible to format on the blog. Mostly, I’ll use glossing if I want to be clear what version of a sign a character used (like LEAVE versus ABANDON), or if I want to emphasize the grammatical structure of an ASL sentence as opposed to its English counterpart.

Example: “If I wanted to ask you your name, I’d do it like this: YOU NAME WHAT?”


Hope that makes things a little clearer, and enjoy In/Exhale! :D
 
-CA


Some ASL resources:


Signing Savvy


LifePrint.com


ASL Pro