Laughter is the best medicine

It's a miracle — and it all started with a joke.

As Jennifer Flewellen, of Niles, Michigan, lay motionless in a hospital bed last year, stuck in a nearly five-year coma caused by a car crash, her mother Peggy Means told her a joke. Then the impossible happened: Flewellen, 41, laughed.

"When she woke up, it scared me at first because she was laughing and she had never done that," Means tells PEOPLE. "Every dream came true. Today's the day I said, 'That door that was closed, that kept us apart, had just opened. We were back.'"

The August 2022 breakthrough was just the first step in a long battle for Flewellen, who is working hard to regain her speech and mobility after being in a cocoon state where time ceased as her brain slowly healed.  

“She woke up, but she didn't completely. She couldn't speak, but she was nodding,” Means, 60, says. “She would still sleep a lot right at first, but then as the months would go by, she would get stronger and be more awake.”

“This is so rare,” Dr. Ralph Wang, her physician at Michigan’s Mary Free Bed Rehabilitation Hospital, tells PEOPLE. “Not just waking up, but making progress. Maybe 1-3% of patients wake up and make progress this far out.”

The feisty mom reached another big goal in October when she was able to participate in a senior night football celebration with youngest son Julian, 17, at a Niles High School football game.

“She was my biggest supporter,” says Julian, who was 11 when his mom fell into a coma. “So to have my biggest supporter back on the sidelines cheering me on, it was a surreal moment."

After news hit about her attending her son's football game, Flewellen was able to secure additional therapy through Mary Free Bed, a local rehabilitation hospital.

In a PEOPLE video interview with her mom from the rehabilitation hospital, an animated Flewellen, who can only string a few words together, nods yes and no to questions and sits up almost straight in a portable hospital bed.

Flewellen's nightmare-turned-miracle began with a typical morning on Monday, Sept. 25, 2017. Then a 35-year-old wife and mother of three young boys in the small town of Niles, Flewellen had just dropped off her three sons at school and was heading to work at Bittersweet Pet Resorts.

It was the last typical morning she would have.  At 8:23 a.m., she hit a utility pole, according to a news report from local radio station WSJM. (Neither speed nor alcohol appeared to be factors in the crash that left her unresponsive.)

Flewellen remained in a coma for almost five years, during which time her mom Peggy — who only recently retired from her job — stayed by her side, visiting almost every day in the chance that her daughter would one day respond to her.

When it finally happened, Means recorded the moment and quickly sent the video to family and friends. The next day, Julian and his brothers went to the hospital.

“I told her I was Juju and her eyes lit up like, 'Wow, it's my Juju bean,'" Julian says, noting his nickname. “But when she actually found out our ages and things like that, it broke her heart. She started to cry.”

Julian says it wasn’t easy for his mom to learn he was a junior and that his brothers Skylar, now 21, and Daeton, 19, had already graduated from high school.

“We've talked about the time that she's missed, and we try not to, because it makes her upset,” Julian says. “But my grandma always tells her, 'You can't sit here and be sad because being sad is not going to get you moving forward.'"

Although Flewellen wasn't aware of her mom's near-daily visits, Means says that her during her daughter's recovery, she played her an audio book about a woman who had been in a coma and described it as a euphoric, peaceful and calming place.

“Jenn cried and said that’s how she felt, so that was nice to know,” Means says. “There were times I wanted to believe she knew I was there, but something just told me this was what I’ve got to do.”

At first, most friends and family didn’t believe Means when she said her daughter had come out of the coma. Worse, she says, were the hospital staff who didn't think Flewellen would progress much past simply waking up.

“I asked for therapy and they thought I was crazy, but she got speech therapy,” says the persistent mom. 

“You have to be a strong advocate,” she adds.

At first Flewellen couldn’t make a sound, but with the help of a little whistle, she was able to bring air up.

Next were vowels. Last Christmas, while her daughter was still living at the hospital, Means gave Flewellen a kitty named Huey “because it was vowels,” Means says with a smile as her daughter also grins.

This is just the beginning of Flewellen's new, post-coma life. Even though she still needs assistance in "almost everything," Dr. Wang says she's already exceeded expectations.

“If she can take a few steps, feed herself and communicate more, those would be huge wins,” Wang says. “Both she and her mom are wonderfully driven. In six months, if she was a 10 before, if we can get her to a four or five. That would be tremendous.”

Means believes her daughter will be walking soon and making up time with her boys.

When she's told that she looks ready to take on the world, Flewellen replies, "I am."

https://people.com/mom-wakes-up-5-year-coma-thanks-to-joke-now-making-up-lost-time-sons-exclusive-my-extraordinary-family-8414255

Courtesy of my daughter

Child pornography charges

Dr. Brian Aalbers, DO, a pediatric neurology specialist, is charged in federal court complaint with one count of attempted production of child pornography.

Court documents stated that Oct. 23, 2023, Kansas City, Missouri, police officers were sent to meet a reporting party who said he located hidden video cameras. The location of where the officers were sent and other details were blacked out in a court document.

Aalbers arrived at the scene, but did not provide a statement, according to the court document.

The person who reported the hidden video cameras contacted KCMO police about text messages he received from Aalbers.

Officers found Aalbers in a Lenexa hotel and took him to Advent Health for voluntary treatment, the document states.

The hospital security staff took a backpack from Aalbers that contained laptop computers, iPad tablets and a cell phone.

Aalbers did not have access to the devices while in the facility and asked a friend to get his backpack.

According to the court document, Aalbers asked that person to destroy the devices because there was "bad stuff" on them.

In November, a forensic examiner told investigators there over 20,000 videos found on a MacBook Pro.

The videos were from December 2020 to October 2023.

https://www.kshb.com/news/crime/johnson-county-pediatric-neurologist-is-charged-with-attempted-production-of-child-pornography

A pediatric neurologist from Overland Park is currently under investigation for possessing and attempting to produce child pornography.

According to an affidavit, Dr. Brian Aalbers allegedly used hidden cameras to record thousands of videos.

However, it remains unclear where the cameras were located and whether any patients were recorded.

Many parents, whose children were patients of Aalbers, are shocked.

Sarah Howland, a mother whose two children saw Aalbers regularly at Overland Park Regional Medical Center and Lee's Summit Medical Center, expressed her concern.

"It's just really disturbing to think that someone who's such a great doctor and who is so knowledgeable and so smart like that has that other side to him," Howland said.

She also shared her frustration with the lack of communication from HCA Midwest Health, expecting more proactive communication regarding the investigation.

"You would have thought that they would have sent out something on a patient portal or something like, 'Hey, just so you know, you know, we don't have information, but your doctor is no longer going to be there' and you're probably going to see something about him in the news.'"

HCA Midwest Health released a statement, saying that there is no indication at this time that the allegations against Aalbers involved patients.

They also confirmed that Aalbers is no longer affiliated with Overland Park Regional Medical Center or any other facilities or clinics.

https://www.kmbc.com/article/amazon-last-minute-deals-2023/46126765

UNC13A mutation as a cause of congenital myasthenia

Inspired by a patient

Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. PMID: 36835142; PMCID: PMC9961056.

Abstract

Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1). The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. Measurement of compound muscle action potentials elicited by repetitive nerve stimulation is required to diagnose CMS. Clinical and electrophysiological features are not sufficient to identify a defective molecule, and genetic studies are always required for accurate diagnosis. From a pharmacological point of view, cholinesterase inhibitors are effective in most groups of CMS, but are contraindicated in some groups of CMS. Similarly, ephedrine, salbutamol (albuterol), amifampridine are effective in most but not all groups of CMS. This review extensively covers pathomechanical and clinical features of CMS by citing 442 relevant articles.

AP4S1 mutations

Inspired by a patient

Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium; Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet. 2015 Apr 15;24(8):2218-27. doi: 10.1093/hmg/ddu740. Epub 2014 Dec 30. PMID: 25552650; PMCID: PMC4380070.

Abstract

We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.Gln46Profs*9 and p.Arg97*) was further investigated in a patient's fibroblast cell line. We show that the premature stop mutations in AP4S1 result in a reduction of all AP-4 subunits and loss of AP-4 complex assembly. Recruitment of the AP-4 accessory protein tepsin, to the membrane was also abolished. In retrospect, the clinical phenotype in the family is consistent with previous reports of the AP-4 deficiency syndrome. Our study reports the second family with mutations in AP4S1 and describes the first two patients with loss of AP4S1 and seizures. We further discuss seizure phenotypes in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. We also hypothesize that endosomal trafficking is a common theme between heritable spastic paraplegia and some inherited epilepsies.

Carmona S, Marecos C, Amorim M, Ferreira AC, Conceição C, Brás J, Duarte ST, Guerreiro R. AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria. Neurol Genet. 2018 Sep 19;4(5):e273. doi: 10.1212/NXG.0000000000000273. PMID: 30283821; PMCID: PMC6167175.

Abstract

Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous clinical presentation. An extensive list of associated genes, different inheritance patterns, and ages at onset have been reported in HSPs. Spastic paraplegia type 52 (SPG52) is an autosomal recessive disease caused by AP4S1 mutations. The disease is characterized by neonatal hypotonia that progresses to hypertonia and spasticity in early childhood, developmental delay, mental retardation, and poor or absent speech. Febrile or afebrile seizures may also occur.

Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Erratum in: Brain. 2021 Apr 12;144(3):e33. PMID: 32979048; PMCID: PMC7780481.

Abstract

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.0–49.3 years). While the mean age at symptom onset was 0.8 ± 0.6 years [standard deviation (SD), range 0.2–5.0], the mean age at diagnosis was 10.2 ± 8.5 years (SD, range 0.1–46.3). We define a set of core features: early-onset developmental delay with delayed motor milestones and significant speech delay (50% non-verbal); intellectual disability in the moderate to severe range; mild hypotonia in infancy followed by spastic diplegia (mean age: 8.4 ± 5.1 years, SD) and later tetraplegia (mean age: 16.1 ± 9.8 years, SD); postnatal microcephaly (83%); foot deformities (69%); and epilepsy (66%) that is intractable in a subset. At last follow-up, 36% ambulated with assistance (mean age: 8.9 ± 6.4 years, SD) and 54% were wheelchair-dependent (mean age: 13.4 ± 9.8 years, SD). Episodes of stereotypic laughing, possibly consistent with a pseudobulbar affect, were found in 56% of patients. Key features on neuroimaging include a thin corpus callosum (90%), ventriculomegaly (65%) often with colpocephaly, and periventricular white-matter signal abnormalities (68%). Iron deposition and polymicrogyria were found in a subset of patients. AP4B1-associated SPG47 and AP4M1-associated SPG50 accounted for the majority of cases. About two-thirds of patients were born to consanguineous parents, and 82% carried homozygous variants. Over 70 unique variants were present, the majority of which are frameshift or nonsense mutations. To track disease progression across the age spectrum, we defined the relationship between disease severity as measured by several rating scales and disease duration. We found that the presence of epilepsy, which manifested before the age of 3 years in the majority of patients, was associated with worse motor outcomes. Exploring genotype-phenotype correlations, we found that disease severity and major phenotypes were equally distributed among the four subtypes, establishing that SPG47, SPG50, SPG51 and SPG52 share a common phenotype, an ‘AP-4 deficiency syndrome’. By delineating the core clinical, imaging, and molecular features of AP-4-associated hereditary spastic paraplegia across the age spectrum our results will facilitate early diagnosis, enable counselling and anticipatory guidance of affected families and help define endpoints for future interventional trials.

Diagnosis by ChatGPT

A Boy Suffering Chronic Pain for 3 Years Finally Receives Correct Diagnosis from ChatGPT

The young boy dealt with chronic pain for years, forcing his mother to take him to see 17 specialists, none of whom could diagnose him

A mother has revealed how her son's three years of chronic pain and countless visits to medical specialists was finally solved after her prompts in ChatGPT unearthed the correct diagnosis.

During the COVID-19 lockdown, as reported by Today, Courtney, who didn't reveal her last name, purchased a bounce house to keep her young children entertained. Shortly after, her then-4-year-old son, Alex, began experiencing pain, with the family nanny informing Courtney, “I have to give [Alex] Motrin every day, or he has these gigantic meltdowns,” according to the outlet.

Courtney reportedly first took her son to the dentist when he started chewing things, with his parents concerned he was having issues with his molars or cavities.

This dentist appointment kicked off three years of visits with 17 different doctors in all manner of specialty fields.

“Our sweet personality ... (child) is dissolving into this tantruming crazy person that didn’t exist the rest of the time,” Courtney told Today.

The dentist suggested Alex see an orthodontist specializing in airway obstruction. While the orthodontist identified that Alex’s palate was too small for his mouth, making it tougher for him to breathe at night, the expander she placed in his palate only helped briefly.

“Everything was better for a little bit,” Courtney remembered. “We thought we were in the home stretch.”

A short time later, Courtney noticed her son had stopped growing. They reportedly visited a pediatrician, who suggested the pandemic had impacted Alex's growth, referring him to physical therapy due to imbalances between his left and right sides.

Around the time he was due to start physical therapy, Alex had been experiencing headaches, with a visit to a neurologist determining the youngster had migraines. He also saw an ear, nose, and throat specialist to see if his sleep problems were due to his sinus cavities.

“We saw so many doctors. We ended up in the ER at one point. I kept pushing,” Courtney told the outlet.

“Nobody’s willing to solve for the greater problem,” she added. “Nobody will even give you a clue about what the diagnosis could be.”

Frustrated Courtney was at the end of her rope when she said she made an account with the AI-powered bot program ChatGPT to share her son's symptoms and the information she had gathered from his prior magnetic resonance imaging.

“I went line by line of everything that was in his (MRI notes) and plugged it into ChatGPT,” she said. “I put the note in there about ... how he wouldn’t sit crisscross applesauce. To me, that was a huge trigger (that) a structural thing could be wrong.”

When ChatGPT suggested Alex was suffering from tethered cord syndrome, "it made a lot of sense," his mother admitted.

According to the American Association of Neurological Surgeons, tethered spinal cord syndrome is a neurologic disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord.

With this information provided by ChatGPT, Courtney found a Facebook group for families of children with tethered cord syndrome and was able to schedule an appointment with a neurosurgeon who examined Alex's MRI images and knew exactly what was wrong.

“She said point blank, ‘Here’s spinal bifida occulta, and here’s where the spine is tethered,' ” Courtney recalled.

When Alex was finally diagnosed, Courtney said she experienced "every emotion in the book, relief, validated, excitement for his future."

Following his diagnosis, Alex underwent surgery to fix his tethered cord syndrome, and while he is still recovering, Courtney said sharing his story may help other parents facing similar struggles, insisting that “you have to be your kid’s advocate.”

https://people.com/boy-suffering-chronic-pain-for-3-years-finally-receives-diagnosis-via-chatgpt-7968393

Controlled strokes to treat hemimegalencephaly

When Bella Hauschildt was born in August 2018, she looked like the average, healthy baby girl. But one day later, twitching in her eyes led to the discovery that the left side of her brain hid severe complications.

Bella had hemimegalencephaly, or HME, a rare disorder that causes half of the brain to grow overly large and abnormal, causing constant seizures.

“Bella was only a couple of days old. It was devastating news,” her grandmother, Ann Getting, said in a story with Children’s National Hospital in Washington, D.C., where Bella eventually went for treatment. “They told us about all kinds of potential disabilities. They also said it would be extremely difficult to control her seizures with medications.”

Because HME is so rare, there are few treatment methods. The typical approach is to open up the skull and remove half of the brain — the left side is not necessary to function normally — to eliminate the tissue that is causing the seizures. But they would have to wait until Bella was 3 months old to safely operate.

At that point, though, waiting was also too risky. Bella was already having 20 to 40 nonstop seizures each hour, even with seizure medication, and if they waited, her IQ would go down 10 to 20 points a month.

“Her seizures were so bad, her quality of life would have been negatively impacted if we waited,” her grandfather, David Getting, said.

The Gettings contacted a good friend, pediatrician Dr. Amy Mashburn, who got to work researching alternative treatments. That led her to Children’s National, where Dr. Taeun Chang, director of the Neonatal Neurology and Neonatal Neurocritical Care Program, had successfully treated a baby girl with the same disorder.

Instead of cutting into the baby’s brain, Chang and her fellow doctors instead purposefully induced repeated strokes to kill off the bad tissue that was causing seizures. Using a micro-catheter, Dr. Monica Pearl and her team go through the femoral artery in the thigh up to the blood vessels in the brain, and carefully put liquid embolic agents, a type of surgical glue, to block blood flow and force the tissue to die.

The procedure, being very new, also held risks, but the Gettings said it “didn’t take long” to decide on that option.

“You proceed with a treatment that offers more hope. You grab hope with both hands. You have the courage to try something that could have a much better outcome,” Ann said.

Before Bella turned 1 month old, the Children’s National team started inducing “controlled” strokes in her brain in three procedures spread out over several weeks. That successfully stopped 98 percent of the problems in her left brain.

Bella was adopted in October while she was still recovering at Children’s National and reliant on multiple seizure medications that made her lethargic.

“She was very sedated as her brain healed from the procedures,” Ambre Hauschildt, her adoptive mom, said. “She didn’t cry. She didn’t have any emotion and, because of the early brain damage, it wasn’t clear if she would ever show emotion. She was just a very quiet, very sleepy, very frail baby with a big question mark over her future.”

But Bella slowly improved, and doctors began to take down her medications, which snapped her out of the fog.

“She was smiling. She was crying. She was learning to suck her thumb. She was looking at us; her eyes would follow us,” Ambre said. “She was very much doing normal baby things: being fussy, wanting to be held — when she didn’t care before.”

Now 14 months old and at home in Iowa with Ambre and her adoptive father, Mark, Bella is down to three seizure medications and doing extremely well.

“She has not had a seizure since Dr. Chang did the procedures. No seizures. No side effects. You would never know she has epilepsy,” Ambre said. “It’s pretty amazing. We’re beyond proud of her. We celebrate all the little things: just seeing her hold her head up, learning to reach for things, and, of course, now she’s talking. She’s done all these things we didn’t know when or if she’d be able to do.”

https://people.com/health/toddler-thriving-doctors-cure-seizures-intentionally-inducing-strokes/

Rasmussen's encephalitis

A 6-year-old girl with a rare neurological disease recently underwent surgery in Los Angeles that disconnected half of her brain.

Brianna Bodley, who was diagnosed with Rasmussen’s encephalitis in August 2022, is in recovery from the functional hemispherectomy on Sept. 28, according to a GoFundMe page organized by her mother Crystal Bodley.

The National Institute of Neurological Disorders and Stroke (NINDS) describes Rasmussen’s encephalitis (RE) as “a very rare, chronic inflammatory neurological disease that usually affect only one hemisphere (half) of the brain.”

Symptoms include frequent and severe seizures, inflammation of the brain (otherwise known as encephalitis), mental deterioration and the progressive loss of neurological functions such as motor skills, speech and mobility on one side of the body, per NINDS.

According to Brianna’s GoFundMe page, she was diagnosed with the disease after she was hospitalized twice within a month after experiencing several seizures at night.

Amid failure of several medications to stop the seizures, which damaged Brianna’s brain, it was recommended that she undergo the functional hemispherectomy. The surgery disconnects the brain hemispheres from each other, as “the only cure for the seizures caused by RE,” per her GoFundMe page.

“She was [in] pain due to her having non-stop seizures, which are shown in her leg that jerks all day long even when she’s sleeping,” Crystal wrote.

She also told ABC7 that her daughter’s “leg would bend up all the time and she would have trouble walking.”

Consequently, Dr. Richard Aaron Robison of Loma Linda University Health performed the 10-hour operation, telling ABC7, “Just disconnecting [the brain] is enough to stop the disease completely and essentially, potentially cure it.”

"Brianna will still be the same person, even after disconnecting half her brain," Robison explained to the outlet.

As of Oct. 3, Crystal wrote in an update on the GoFundMe page that Brianna’s medical team is focused on “pain management trying to help with her pain after surgery.” The 6-year-old will also start “intense rehab to learn how to walk and use her arm, speech therapy and more.”

According to the page, Brianna will be doing rehab until “she can walk and move her arm again,” but that she “will never get back her fine motor skills in her left hand and her peripheral view in her left eye.”

“She has a very long road of recovery, but she is a strong and determined little girl. I know she will do great things and overcome all of this,” her mother wrote.

https://people.com/6-year-old-with-rare-disease-has-half-her-brain-disconnected-8349085