Disorders/Diseases/Oddities Thread -

GenociderSyo

Syo
kiwifarms.net
Probly Congenital Nevus (They can be pre-cancer as well then it is Congenital Melanocytic Nevus):
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The balloon method to remove them may be worse then the birthmark itself (This one had CMN so it was removed to save her life before it became full on cancer):
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GenociderSyo

Syo
kiwifarms.net
Arthrogryposis Multiplex Congenita
(AMC affects approximately 1 in 3,000 individuals)

Arthrogryposis itself means a nonprogressive contracture affecting an areas of the body prior to birth. Contractures are when a a joint becomes permanently fixed in either a bent or straightened position, which completely or partially restricts movement of the joint. Arthrogryposis Multiplex Congenita (AMC) is when there is arthrogryposis of more then one area.

The joints most affected are the legs and arms with the legs being affected more often. The most common joints affected are the shoulders, elbows, knees, wrists, ankles, fingers, toes, and/or hips. In rarer cases, the jaws and back may also be affected. This disorder is a spontaneous condition and does not run in families.

The contractures since they begin before birth leads to affected muscles being undeveloped. This leads to tube-shaped limbs with a soft, doughy feeling. Some common co-occuring symptoms may also include abnormally slender and fragile long bones and cleft palate. About 30% of individuals may also have central nervous system abnormalities. AMC can also be seen associated with severe hypotonia (lax muscles with little strength). The abnormal development of connective tissue in the joints can restrict fetal movements, potentially causing multiple contractures. A lack of joint development or the abnormal fusion of bones (synostosis) that are normally separate have also been associated with multiple congenital contractures.

The most common form of AMC is Amyoplasia which has multiple contractures of the joints, usually having all 4 limbs affected.
In this form of AMC The shoulders may be internally rotated and drawn inward (adducted), the elbows are usually extended, and the wrists are usually flexed with flexed and stiff fingers. In many the distal joints (those farthest from the torso) are usually more severely affected, the shoulders and hips also often have significant contractures. These individuals usually have severe clubfoot and some have dislocated hips.
Intelligence is not affected due to this disorder nor are there craniofacial or visceral (organ related) abnormalities.

The other subgroup that is common is distal arthrogryposes. This is characterized by multiple congenital contractures and once again affects the distal joints. At least 10 different forms of distal arthrogryposis have been identified including Freeman-Sheldon syndrome, Gordon syndrome, trismus-pseudocamptodactyly syndrome, multiple pterygium syndrome and Sheldon-Hall syndrome.

In most cases of AMC, the exact cause of the contractures cannot be identified. This is due to AMC being a physical finding associated with numerous disorders and conditions. The primary underlying reason that leads to congenital contractures is believed to be decreased fetal movement during development. The joints begin to develop in a fetus around five or six weeks into pregnancy. Motion is essential for the proper development of fetal joints. A lack of fetal movement allows for excess connective tissue to form around the joints, which can result in the joint becoming fixed and/or limiting the movement of a joint. This can be caused by fetal crowding in multiple birth or uterine structural abnormality situations. If it is deemed to be due to genetic differences then there is a 50 percent change to have another child with the same disorder.

Treatment of AMC involved standard physical therapy in the newborn period to improve joint motion and avoid muscle atrophy. Removable splints for the knees and feet that permit regular muscle movement and exercise are also recommended. Serial casting to mobilize stiff joints is helpful in most cases. Surgery may be necessary to achieve better positioning and increase the range of motion in certain joints, especially the ankles, knees, hips, elbows, or wrists.

"Treatment for arthrogryposis usually involves: stretching (to increase joint range of motion), physical therapy to work on overall strength and gross motor skills (walking, standing), occupational therapy to work on fine motor skills and self-help skills (grasping, feeding), speech therapy to work on speech and oral motor skills, serial casting (including the Ponseti Method for clubfeet), splinting, bracing (AFO's, KAFO's) and orthopedic surgery (osteotomies (bone cuts) to change angle or rotation of a bone, soft tissue releases (releasing and lengthening tight muscles and tendons), muscle/tendon transfers (changes what body part a muscle/ tendon moves) and external fixators (metal frames that are applied over a deformity that is exceptionally rigid/tight and needs to be corrected slowly or to lengthen short bones). Some individuals opt for through the knee amputation. There are other therapies as well: hippo therapy (using horses for therapy), aqua therapy (therapy in a warm water pool) and massage therapy to name a few."


History of AMC

  • 1642
    • An oil painting that resides in the Musée du Louvre in Paris called “The Clubfoot (also known as The Club-Footed Boy by Jusepe de Ribera.
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  • 1822
    • Guerin added the concept of congential extremities.
  • 1841
    • An anatomist named Adolph Wilhelm Otto described a case of congenital myodystrophy.
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  • 1897
    • Schantz subsequently termed “multiple congenial contractures.
  • 1905
    • E. Rosenkraz collected 56 cases that were similar in nature and labeled them arthrogryposis.
  • 1913
    • Rocher termed the process as “multiple congenital articular rigidities”.
  • 1923
    • WB Stern coined the phrase “arthrogryposis multiplex congenital (AMC)”
  • 1925
    • Lewn reviewed the orthopedic characteristics of the disease and used the term arthrogryposis multiplex congenital (AMC) in reporting his clinical cases.
  • 1932- 1934
    • Sheldon described clinical features of congential multiple contractures in child and used for the first time the name “amyoplasia congenita”.
  • 1934
    • Middleton studied muscle tissues from patients and defined the disease as of muscular origin.
  • 1947
    • Brant , Adams et al in 1953, Wolf and coworkers in 1955 attempted to define a neurological of myogenic cause for the entity.
  • 1998
    • Dr. Hall was the first to define Amyoplasia (the most common form of arthrogryposis) and the book she co-edited called Arthrogryposis: A Text Atlas became the definitive publication on arthrogryposis (a condition where some or all joints have reduced range of motion).
"Babies born with arthrogryposis can have a very rough start in life. Many babies with AMC accidentally have their bones broken during delivery or during the neonatal period. The lack of movement can make their bones more brittle (this is not the same as brittle bone disease) and if the position of the contractures are not favorable for delivery (for example if a baby's hips are externally rotated and knees stuck in flexion) a lot of force may be needed to deliver them, resulting in fractured bones. The thighbones (femurs) and the upper arm bones (humerus) are common bones to be broken. Some babies have their limbs fractured immediately after birth because their medical team doesn't know how to move them yet. If AMC is detected before birth a c-section may be needed to try to avoid broken bones but even with a c-section it can still happen. Some kids continue to have fractures throughout childhood from accidental falls."

"Arthrogryposis is not considered progressive; it's as severe as it's going to get at birth, and the contractures won't worsen with time. It is however regressive in nature. This means that even after any type of treatment (even highly effective treatment whether it be surgical or non-surgical) the contractures/ deformity can re-occur. So a foot can go back into a clubbed position, a knee can get stuck in a flexed position again, a wrist can stop going to neutral again ect, this is also called relapse. Post-treatment bracing (like after casting or surgery) is very important to try to prevent relapse but even strict brace wear doesn't stop all relapses. Once a person stops growing the contractures are less likely to re-occur."



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Youtube Channel with Multiple Vlogs:
JulietaJule

While reading about this I ran across an ingenuous new product that exists to increase independence in those with upper limb deficenices and deformities. "Obi is a first of its kind, revolutionary dining device for individuals who lack upper extremity function."

There is a handbook linked in attachments.
 

Attachments

  • arthrogryposis_textatlas.pdf
    4.5 MB · Views: 17
Last edited:

GenociderSyo

Syo
kiwifarms.net
Thanatrophic Dysplasia
(1 in 60,000 births, Under 10 people with this disorder known to exist world wide, possibly only 3 or 4 still living)

Thanatrophic Dysplasia is the most extreme version of dwarfism a person can have. They have the appearance they do because the long bones do not form properly or may be completely absent. The appendages are EXTREMELY short. This used to be considered 100% fatal, but now with genetic testing it is known before birth and planning can occur to secure the airway since they all have issues with their breathing due to small chest/small airway. 80% to 100% of casees have an iq less then 20. They are conscious beings but most will never leave the intellecttual age of a young toddler. 0 to 20% are only mildly retarded. So regardless this child will at least be somewhat cognicant that she is different and very limited. It is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. There is also a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.

Almost all infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. With extensive medical interventions a few have lived into early childhood.

The oldest person known at the moment with this disorder is 10 years old. It took until he was 8 years old to be able to be weaned from the ventilator and he was weaned from trach at 10. He required spinal fusion and other surgeries as well to survive.

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There was a journal article done in 2020 discussing the fact that now with medical interventions the term fatal that used to be always associated with this disorder should be rethought. The article focuses on the case study of the 10 year discussed previously.

Abstract

Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to sustain him, and his parents' perception of his quality of life. We also summarize the clinical course of published long-term survivors with TD. Pediatric Palliative Care teams, especially those conducting perinatal palliative care consultations, are often asked to support families in the face of prognostic uncertainty. Our case report and review of the literature adds to the uncertainty of prognosis in TD and suggests that pediatric palliative care providers should be wary of the label “lethal.”

Introduction​

Thanatophoric dysplasia (TD) is a skeletal dysplasia that was previously described to be incompatible with life. The term thanatophoric is Greek for “death bearing.” Infants with this condition have extreme short stature, micromelia, a narrow chest, underdeveloped lungs, macrocephaly, and a small foramen magnum. Occurring in 1/20,000 to 1/50,000 births, it was understood to be lethal soon after birth due to difficulty with ventilation and development of respiratory failure.1–4 There are very few reports of patients who have survived beyond the first few days of life; therefore, families faced with this diagnosis are typically counseled to consider pregnancy termination and/or comfort care at birth. However, with advances in technology, survival can be possible for some. This makes counseling around prognosis and expected clinical course challenging for families faced with a perinatal diagnosis of TD.

In this brief report, we describe the case of a boy with thanatophoric dysplasia type 1 (TD1) and review the medical decisions the family faced. We also summarize the clinical course of published long-term survivors with TD. Both serve not only as prognostic guides for this specific condition but also to illustrate themes that emerge when providing palliative care for children with diseases commonly labeled as “lethal.” The family gave permission for their child's name and story to be shared.

Case Description​

Charlie was born to a 33-year-old gravida 7 para 3 mother and a 33-year-old father. Pregnancy was complicated by polyhydramnios and features suggestive of TD by anatomical ultrasound. Amniocentesis identified a c.742C>T (p.R248C) mutation in FGFR3, consistent with a diagnosis of TD1. Charlie's mother recalls being given the diagnosis by a high-risk obstetrician and a genetic counselor who both counseled that, if she were to carry to term, the infant would not make it out of the delivery room alive and, therefore, offered termination of the pregnancy. After connecting with two families whose children were long-term survivors with TD, they made the decision to continue the pregnancy. Charlie's mother met with her local neonatology team and together they created a birth plan that supported her goal of prolonging Charlie's life.

Delivery occurred at 36 weeks gestation through repeat cesarean section, and the infant required intubation and ventilator support immediately after birth. He spent five months in the neonatal intensive care unit where he received frequent speech, physical, and occupational therapy. Tracheostomy and gastric tube were placed at two weeks of age. He was treated for subclinical seizures and had challenges with hypoventilation and apnea, all of which improved with time. He was discharged to a rehabilitation facility for one month before going home.

He presented to our skeletal dysplasia program for multidisciplinary evaluation at 2.5 years of age. At that time, he had been generally healthy with one hospital admission for treatment of pneumonia since birth. He was able to roll from his back to his stomach and also used a power wheelchair for mobility. He was able to feed primarily by mouth with assistance, utilizing the gastric tube infrequently. Polysomnography obtained around this time demonstrated periodic breathing and central apnea with oxygen desaturations, and his neurological examination was notable for hypotonia, weakness, hyperreflexia, and crossed adductor reflexes, raising the concern for critical foramen magnum stenosis. Magnetic resonance imaging of the cervical spine and craniocervical junction identified a narrowed foramen magnum and diffuse narrowing of the cervical canal with signal changes within the spinal cord, and he subsequently underwent foramen magnum decompression the following month. After surgery, his developmental skills advanced significantly and his central apneas resolved.

At four years, his gastric tube had been removed and his ventilator settings were being slowly weaned over time. Acanthosis nigricans, a known skin finding in children with changes in the FGFR3 gene unrelated to glucose intolerance, was first observed in Charlie at approximately two years of age and had begun to spread within skin folds and areas of friction. He would go on to have surgical excision of these skin folds multiple times in an effort to reduce the complications that arose in these areas.

Repeat evaluation each year since has demonstrated consistent progression of developmental skills. At seven years of age, he was able to army crawl, bear weight in a jumper, and sit unsupported for one hour. With the assistance of a communication device, as well as sign language, he was able to use up to three-word phrases to communicate his needs and answer questions, including asking for specific foods and activities. Neuropsychiatric testing placed him at the one- to three-year-old level, with the caveat that standardized testing is made for children who experience the world much different than Charlie; therefore, it was noted to better describe him functioning within the sensorimotor developmental stage. Today, Charlie's mother described him as “a thriving 9-year-old boy” who feeds himself, drives his own power chair, throws a ball, colors, and paints. He has been weaned off the ventilator since eight years of age, and is now working toward decannulation, of which we believe he would be the first child with TD1 to accomplish.
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Discussion

Expected clinical course


A crucial role that palliative care providers serve is to help families gain a better understanding of their child's prognosis and expected clinical course. This can be challenging when a fetus or a child carries a rare diagnosis and/or has surpassed prognostic expectations. A summary of the medical needs of published long-term survivors with TD can be found in Table 1.5–14 Although the number of published individuals living with TD1 are few, knowing the medical decisions and interventions these children required can be helpful when families turn to us for guidance.

General​
 Gender​
M​
M​
M​
F​
F​
M​
F​
M​
M​
 Age at the time of publication​
9 years​
8 years​
4.75 years​
4 years; 28 years​
23 years​
6 years​
169 days​
212 days​
9.5 years​
 Current age​
Unknown​
Unknown​
Deceased at 5.2 years​
Unknown​
Unknown​
Deceased at 6 years​
Deceased at 169 days​
Deceased at 212 day​
9.5 years​
 Mutation in FGFR3​
R248C​
G370C​
Unknown​
R248C​
R248C​
S249C​
Unknown​
Unknown​
R248C​
 Thoracic circumference​
NR​
26.8 cm at birth; 35.8 cm at 8 years​
23.5 cm at birth; 39 cm at age 3 years 9 months; 42 cm at 4.75 years​
24 cm at birth; 41.5 cm at 3 years 9 months​
NR​
NR​
NR​
NR​
40.8 cm at 4 years 1 month​
 Head circumference​
39.5 cm at birth (+1 SDa); −1.7 SDa at 8.7 years​
37.0 cm at birth; 46.1 cm at 8 years​
33.5 cm at birth; 47.5 cm at 4.75 years​
35 cm at birth​
NR​
35 cm at birth​
38.5 cm at birth​
NR​
60.8 cm at 8.5 years​
 Linear growth​
−6 to −6.5 SDa
Length did not increase beyond 49.0 cm after age 5​
Absent linear growth after ∼10 months​
Absent linear growth after ∼10 months​
NR​
Almost no linear growth​
NR​
NR​
71.4 cm at 8.5 years​
Neurological​
 CNS abnormalities​
Stable mild ventriculomegaly since 9 months; high cervical myelopathy; hyperreflexia, sustained ankle clonus and upgoing Babinski sign​
Mild brain atrophy at age 7​
Abnormal gray/white matter differentiation; communicating hydrocephalus; VP shunt placed​
Progressive hydrocephalus; VP shunt placed​
Moderate ventriculomegaly​
Mild nonprogressive ventricular dilation​
Progressive hydrocephalus; absent reflexes​
Mild cerebral atrophy​
Moderate ventriculomegaly; hypotonia, crossed adductor reflexes, no clonus​
 Craniocervical junction abnormalities​
Narrow transverse diameter of foramen magnum and marked upper cervical stenosis​
NR​
Auditory evoked potentials concerning for brain stem compression at foramen magnum​
Progressive stenosis resulting in quadriplegia; MRI at 18 yo demonstrated no CSF flow through the FM​
NR​
NR​
NR​
NR​
Stenosis of the foramen magnum with cervical cord compression​
 Decompression surgery​
No evidence of cervical cord compression​
NR​
Yes, no apparent benefit​
Yes, in infancy with transient improvement in ventilator need; no further decompression attempted​
NR​
No​
No​
No​
Yes, postoperative improvement in development and central apneic events​
 Seizures​
Yes, since 7 months of age, controlled with AEDs​
NR​
Yes, generalized seizure at 3 months​
Febrile seizure in infancy, seizure disorder at age 15 controlled with AED​
NR​
NR​
NR​
Frequent apneic attacks with cyanosis treated with AEDs​
Yes, subclinical seizures in neonatal period​
 Hearing​
Mild to moderate hearing loss, secondary to chronic otitis media; bilateral hearing aid use​
NR​
Dysfunctional retrocochlear pathway of left acoustic nerve​
Right cholesteatoma; significantly impaired hearing; ability to recognize voices and react to sounds​
NR​
Severe sensorineural hearing loss​
NR​
NR​
Chronic otitis media; bilateral cholesteatoma necessitating multiple surgeries; moderate hearing loss​
Respiratory​
 Tracheostomy​
Yes​
No, per family request​
Yes​
Yes​
NR​
NR​
No​
No​
Yes​
 Ventilator dependence​
Yes, able to tolerate brief 10- to 12-minute windows with supplemental oxygen​
Long-term intubation and mechanical ventilated since birth​
Yes​
Yes beginning at 4 months; from 8 to 10 years tolerated up to 8-hour window most days; tolerated 30-minute intervals until age 15, when she became fully dependent​
Yes​
Yes​
No, oxygen supplementation​
Oxygen support in infancy; periods of apnea noted; ventilator use during illness​
Yes previously; however, no longer dependent (since age 8)
Development​
 Motor skills​
Approximately 2 to 12 months at chronological age of 4.8 years (rolls, scoots, sits unsupported, and pulls to stand with assistance); uses manual wheelchair for mobility​
NR​
“Profound” developmental delay​
Previously able to roll and move around on her abdomen; ∼8- to 18-month level during teen years​
NR​
Development reported as similar to that described by Baker et al.​
NR​
NR​
Sensorimotor developmental stage (army crawls, sits unsupported for 1 hour, and throws a ball); uses power wheelchair for mobility​
 Cognitive and language skills​
Approximately 18 months at chronological age of 8 years; vocalizations but no distinct words at age 9​
Ability to make emotional expressions; language perception estimated at 10 to 12 months at chronological age of 8 years​
Approximately 2 weeks at chronological age of 4.75 years; responded to visual cues only​
Some vocalizations; ability to express likes/dislikes; use of limited sign language (hello, goodbye, and yes); ∼8- to 18-month level during teen years​
NR​
Development reported as similar to that described by Baker et al.​
Cognitive development appeared to be consistent with chronological age​
Cognitive development reported as normal until 4 months “and then was retarded”​
Currently uses three-word phrases with an assistive communication device and sign language​
 Feeding/nutrition​
G-tube placed at 1.6 years; self-feeding at time of publication; g-tube use for medication and during periods of illness​
“Fed a liquid mixture, augmented with trace elements”​
NR​
Some ability to self-feed; purees and thickened fluids​
NR​
Fed formula by mouth​
NR​
NR​
G-tube placed at 2 weeks and removed at age 4; currently able to self-feed​
Dermatological​
 Acanthosis nigricans​
Onset estimated to be at age 2​
Onset at age 2​
NR​
Onset in teen years​
Onset at age 13​
Onset in “later life” of patient​
NR​
NR​
Onset at age 2; underwent stages of surgical removal​
Compared with Achondroplasia standards.
AED, antiepileptic drug; CNS, central nervous system; CSF, cerebral spinal fluid; FM, foramen magnum; MRI, magnetic resonance imaging; NR, not reported; SD, standard deviation; VP, ventriculoperitoneal.

Respiratory​

Infants with TD face challenges with ventilation. We hypothesize that this is due to a combination of upper airway obstruction, tracheomalacia, abnormal pulmonary anatomy, and pulmonary hypoplasia due to small ribs and a narrow chest.16 Although we suspect that infants with TD who are unable to be ventilated despite all interventions are in the majority, we note that there is a subset of patients who have the potential to survive when offered respiratory support.

As in Charlie's case, all published individuals with TD who have survived beyond one year of life have required long-term mechanical ventilation (Table 1). Most patients required tracheostomy, although one described patient utilized long-term endotracheal intubation.6,7 Several individuals were able to experience brief ventilator-free windows throughout the day; however, there are no published reports before this one of individuals completely weaned off of invasive respiratory support. It is worth noting that one child has been reported to have tolerated periods of time off ventilation, but later developed neurological sequelae, leading to complete ventilator dependence by the end of her second decade.9

Neurological​

As seen in achondroplasia, the anterior-posterior diameter of the foramen magnum can be significantly narrowed in TD. This may present with neurological changes, developmental delays, and/or central apnea. Foramen magnum decompression can provide relief of pressure on the spine for those with critical stenosis. We anecdotally witnessed significant improvements in all three of these domains for our patient after decompression surgery. However, as noted earlier, an individual has been described for whom there was progression of cervical spinal stenosis in the second decade of life despite decompression as a child, leading to quadriplegia as a teenager and regression to need of complete ventilator support.9

On brain imaging, a majority of children in the literature had ventriculomegaly and/or temporal lobe dysplasia or dysgenesis; however, only two children had a ventriculoperitoneal shunt placed (Table 1).4,8,9,17–22 Seizures were common, typically temporal lobe epilepsy, but seemed to be manageable with antiepileptic medications.5,9

Developmental delays are expected. The individual described in this study demonstrated slow and steady developmental progress over time, with intensive therapies and augmentative communication devices. Early intervention should be involved; however, physical therapy should avoid any manipulations of the neck or back so as to not exacerbate injury due to the condition-associated foramen magnum stenosis and thoracolumbar kyphosis. Expectations should not be that a child with TD will be conversant and ambulatory without assistive devices, but that there is potential for developmental advancement.9

Dermatological​

Acanthosis nigricans is a consistent feature that appears to develop in individuals with TD. This is not a surprising finding as acanthosis nigricans is observed in several other FGFR3-related disorders.23–25 Using a lubricant in locations of friction can sometimes slow the progression and prevent skin breakdown. Alternatively, surgical excision can be beneficial for some children with widespread acanthosis if it is causing significant discomfort or risk of infection.

Growth​

Growth velocity for children with TD is not known; however, the child in our case showed steady length, chest, and head circumference growth over time. We suggest growth points for a child with TD be best plotted on achondroplasia growth charts, with expectations that the head circumference would plot above the mean, and the height would plot more than two standard deviations below the mean. To this end, infants with TD inevitably have different weight goals, and we suggest a goal of 5 to 10 g/day in the first year of life. Weight gain above this amount can cause reflux, vomiting, and abdominal competition leading to increased respiratory needs.

Potential for future treatment​

C-type natriuretic peptide (CNP) is a potent positive regulator of endochondral bone growth. Studies have shown that CNP plasma levels are altered in FGFR3-opathies.26 Currently, clinical trials are underway testing the use of CNP analogues in children with achondroplasia. These studies are in progress, but early results show a modest increase in height.27 Although linear growth is one outcome being measured, the hope is that this treatment will decrease medical complications caused by skeletal changes in achondroplasia. There are also several other potential therapeutic agents for achondroplasia that are early in their development. We would be remiss if we did not mention the possibility of these medications being helpful to children with TD in the future as well. This is important to note as it further evidences the evolving clinical landscape for children with TD and informs the way in which palliative care physicians will need to counsel families about future potential and prognosis.

The role of the palliative care team in an evolving landscape​

The story of children such as Charlie surviving with a “lethal” disease is not unfamiliar in pediatric palliative care (PPC). Trisomy 13 and 18 (T13/18), once considered mostly fatal, are now well established as syndromes with wide phenotypic variation, and children are known to survive for decades both with and without surgical intervention.28–30 TD in some ways is today where T13/18 were in the 1980s—with single case reports of long-term survivors, such as Charlie, and parents fighting for medical providers to consider alternatives.31

Although we currently lack longitudinal data in TD, we can extrapolate that with surgical intervention (tracheostomy, gastric tube placement, foramen magnum decompression, and/or ventriculoperitoneal (VP) shunt when clinically indicated), survival curves are likely to differ from what we would expect with a “uniformly fatal” diagnosis. Quality of life (QOL), of course, is important to follow, along with survival. If Charlie is any indication, his parents perceive his QOL to be excellent and state they would do nothing differently if they were faced with the same medical decisions for Charlie all over again.

As with the paradigm shift that has occurred in the care of infants with T13/18, PPC teams have played and continue to play a pivotal role in advocating for goal-concordant clinical care that is based on best available evidence for the disease in question. With rare diseases such as TD, single case reports of survivors such as Charlie are important evidence that a condition may be life-limiting, but not necessarily “uniformly lethal.” We, therefore, recommend practitioners be wary of the label “lethal” and suggest counseling families on the variety of clinical outcomes documented in the literature.

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Crimewatcher 44

Twatwaffle Voyeur
kiwifarms.net

Slonki Wola

Sado-sexual enthusiast • Post-cum • Racist
kiwifarms.net
Creutzfeldt-Jakob Disease
Creutzfeldt-jakob-disease-Image.jpg

Creutzfeldt-Jakob Disease or CJD is caused by misfolded prions (neuron proteins) primarily in the Central Nervous System (CNS) but also in the blood and motor neurons in skeletal and cardiac muscle tissue. There are numerous prion diseases in other mammals such as Scrappie in sheep, Mad Cow disease in cows, and Chronic Wasting Disease in cervids. Prion diseases are also referred to in the medical community as Transmissable Spongiform Encephalopathies (TSE's). Misfolded prions are also resistant to heat, and need to be denatured through a precise chemical process.

There are numerous ways of contracting CJD, such as ingesting misfolded prions (vCJD), random misfolding (sCJD), or through a genetic predisposition. The odds of being diagnosed with CJD is 1/1,000,000, and the average age of onset is 60. There is currently no cure nor effective treatment and the prognosis is certain death within six months to two years of developing symptoms.

With that said, as a hypochondriac, this shit fucking scares me. I hit a deer one year ago, and although the research so far suggests that CWD is not transmissable to humans, I still am scared that I came into contact with infectious tissue on the front bumper of my car. I have zero doubt that if I start showing symptoms of neurological decline that CWD would be the culprit and I would kill myself.

More info on CJD/prion diseases:



 

Boson

kiwifarms.net
Super happy this thread exists. This topic is one that greatly interests me so if I find a fascinating disease I’ll certainly contribute. This is the main reason why I follow the tard baby thread. So far the worst defect that’s made me squirm would be the cyclops baby. Ugh.
 

NerdShamer

International Glownigger Commander
kiwifarms.net
Super happy this thread exists. This topic is one that greatly interests me so if I find a fascinating disease I’ll certainly contribute. This is the main reason why I follow the tard baby thread. So far the worst defect that’s made me squirm would be the cyclops baby. Ugh.
At least those are usually born dead on arrival.
 

tacosauces

kiwifarms.net
On this forum there are many things we run into in a medical sense that leads to some pretty long tangents to explain them. I brought up my interested in all things odd and curious in the medical sense in Historic Images and people seemed to think this thread would be interesting.

I will try to post a new disorder or something weekly, focusing on the rare and more unknown ones. I will also try to focus on ones that include images or videos so that it is more then just boring text.

Some definitions to know:
Orphan Disease
This will come up a lot and it refers to disorders and diseases that fit one of two categories:
  1. Effects fewer then 200,000 people worldwide.
  2. Diseases or disorders that are considered almost erradicated such as cholera and typhoid.
Feel free to bring up your own things you learn and want to ask questions about or share. If you want to request a disorder you've heard mentioned please do.


Schwartz Jampel Syndrome
(About 85 people world-wide are diagnosed with this)

This disorder involves abnormalities of the skeletal muscles, leading to muscle weakness and stiffness, bone dysplasia, joint contractures and growth delays. Most with this disorder have obvious facial differences since the muscles are so tight that their eyes and mouths cannot fully open. It is usually diagnosed in infancy or early childhood due to its very obvious physical characteristics.

Mental development is generally normal in this disorder, so they are not going to be potatoes. Their muscles are constantly in a contracted state and they must fight against this state to do normal activities. The muscles are so contracted that they tend to have their hip-sockets easily dislocate. Many will use wheelchairs since they cannot walk independently.

They also have issues with their eyes being smaller, having juvenile cataracts and/or having muscle spasms. Most have issues with eyesight and as the muscles become tighter they become functionally blind due to inability to open eyes. They also have issues with speech being unnaturally high due to the throat and vocal chord muscles being effected. They tend to have respiratory issues since once again our hearts and lungs are muscles.

In a paradox situation the usage of muscles relaxers and even anesthetics is counter to helping these individuals since a percentage respond to this with increases muscle tone and hyperthermia (high body temperature).

To have this disorder both your parents must be carriers and there is a very high chance once a child is born with this any subsequent children will have it. Interestingly enough studies in this disorder found out that the parents of people with it had a high chance of being blood relatives. The disorder is caused by a mutation on the short arm of chromosome 1 which is what encodes for Perlecan which is what causes our muscles to function and cartilage to form.

Treatment for this disorder is to treat the various symptoms it causes. All require at least some sort of chronic pain relief since your muscles constantly being contracted is extremely painful. They may need surgeries to treat dysplasia, contractures and scoliosis. Most will require hip replacements in childhood. Problem of course is due to the paradoxal reaction some may not be able to be treated surgically at all.

Just found this thread. Awesome stuff, thank you!
 

Smaug's Smokey Hole

Sweeney did nothing wrong.
kiwifarms.net
Exploding Head Syndrome is a condition in which before or right after falling asleep, the sufferer hears a loud auditory hallucination akin to an explosion or gunshot. Some people also experience a bright flash of light, though this is less common. Due to its nature, people with the condition can sometimes grow fearful of sleep and the condition itself is thought to be sometimes linked to epilepsy or PTSD though a true cause is unknown.
I have that, for real, and it is extremely annoying and unsettling. First heard the term maybe 15 years ago, never thought about what it could be before that.

Right before crossing the barrier between falling asleep and being asleep it's like someone tosses in a large firecracker or fires a gun in the room, the sound is very clear and very loud so there's never any doubt that it's in the same room. When you're drifting off you're in a very vulnerable state mentally so it's not possible to brace yourself, this means you can never get used to it even though you know perfectly well that it's nothing. It also pumps out some adrenalin because it's essentially a jump scare. Adrenalin and falling asleep doesn't go well together. It can happen again and again in the same night until it just doesn't happen again for seemingly no reason.

It fucking sucks.

"Norrbottnian Congenital insensitivity to pain" is a chromosome mutation that mostly happens in the Swedish north that makes people unable to feel pain. Just pain and things related to it, everything else is seemingly fine, meaning they can jerk off like monkeys but when the friction ignites the wang they won't feel that part.
 

GenociderSyo

Syo
kiwifarms.net
"Norrbottnian Congenital insensitivity to pain" is a chromosome mutation that mostly happens in the Swedish north that makes people unable to feel pain. Just pain and things related to it, everything else is seemingly fine, meaning they can jerk off like monkeys but when the friction ignites the wang they won't feel that part.
I've seen a documentary about that the girl in it coudnt feel extremes of temperatures either. Everything was some vague term of hot or cold. I remember they showing the girl had seriously burnt herself and also scratched her eyes until she was blind and bit off half of her tongue. Might do that cluster of disorders next.
 

Exuvia

All bleeding stops eventually.
kiwifarms.net
Cri-du-chat syndrome is a chromosomal disorder which typically presents with intellectual disability, unusual facial features and heart defects. On their own, these signs are not out of the ordinary for a chromosomal condition. What is, however, is the distinct cry which the diagnosed children are known for and which gives the syndrome its name (French for "cat's cry").

Here's a good recording of what it sounds like:



I've encountered this once so far; I remember being in the hallway and thinking "who the hell brings a cat with them to the emergency room" and then feeling like a complete asshole when we entered the room and I learned that the sound was coming from a crying disabled child...
 

GenociderSyo

Syo
kiwifarms.net
Hereditary Sensory and Autonomic Neuropathy Type IV
Congenital Insensitivity to Pain with Anhidrosis (CIPA)
(700 cases or so, mainly in Japan)

The incidence of the disorder is due to something known as the founder effect which is why majority of cases are found in Japan among Japanese and Israeli-Bedouin populations. A founder effect is when a small isolated population of settlers (founders) expands over several generations leading to a high prevalence of a particular genetic trait. Regions with a high rate of consanguinity also show a higher prevalence.

This autosomal-recessive genetic disorder causes a person to have an inability to feel pain as well as an inability to sweat. They also are unable to distinguish temperature and cannot distinguish between hot and cold. This is due to issues with the sensory nerves and why it is deemed a neuropathy. Due to the inability to sweat individuals may have sudden fevers and high body temperature. They also may unintentionally mutilate themselves, damage their joints, or fracture.

Helpful little image when dealing with disorders to figure out how likely genetic disorders will pass onto children is the punett square.
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It can be seen that there is a 25% chance that two parents who carry the gene will have a child with the disorder. There is a 100% chance if two people with the disorder have a child there child will have this. If someone with the disorder and someone who is a carrier have a child there is a 50% chance the child will have it. This is a very simplified image of this and its kinda a fun little puzzle game to figure things out via it.

With this disorder, infants cannot or have a markedly decreased ability to sweat which leads to frequent hyperthermia episodes until the anhidrosis is diagnsosed. These episodes can and do lead to febrile seizures. Some have skin issues where it becomes calloused easily. Hyptonia is common at birth. Some may have episodes of postural hypotension, where their blood pressure drops when they stand or they may have elevated heart rate when changing posture.

Affected infants fail to feel pain in response to stimuli that normally should produce pain such as failing to respond to routine injections that are part of pediatric immunizations. Pain is essential to protect people from injury and to alert the body of injury. Because of the inability to feel pain, affected infants and children may suffer repeated injuries and may demonstrate behaviors that cause injury to themselves (self-mutilation) including biting one’s tongue, lips and the lining of the inside of the mouth (buccal mucosa). Affected infants often develop ulcers on their tongues from repeatedly biting their tongues. When the primary teeth first erupt, affected children often bite their fingertips or toes; in severe cases, they can chew or bite off the tips of their fingers or toes and lips.

Individuals may be unaware of injuries and this can lead to chronic skin erosions, ulcers (open sores), or blisters that are slow to heal. Affected individuals can develop infection of the surrounding bone (osteomyelitis), loss of bone and tissue in the fingers and toes (acroosteolysis), and spontaneous, repeated fractures. Repeated trauma to joints results in progressive inflammation, damage, and deformity of the affected joints (Charcot joint or neuropathic arthropathy). The large, weight-bearing joints are especially prone to this complication.

Eye abnormalities may develop, specifically neurotrophic keratitis, a condition characterized by damage to the corneas of the eyes. The cornea is the transparent membrane that covers the front of the eyes. Affected individuals can develop lesions (ulcerations) on the cornea; these lesions can cause corneal scarring. Infection can also occur. There have been cases where children have literally scratched almost through their corneas.

Some children with HSAN IV have developmental delays and learning disabilities are common. There may be intellectual disability in some individuals but case and prevalence is unknown. Behavioral problems including irritability, hyperactivity, emotional lability (inability to control one's emotions) and episodes of anger or rage.

Treatment is directed toward the specific symptoms that are apparent in each individual. Genetic counseling is recommended for affected individuals and their families. Affected individuals may be treated with acetaminophen or ibuprofen when fevers are present. Direct cooling in a bath or with a blanket designed to lower body temperature (cooling blanket) may also be used. Behavioral issues tend to improve with age. These issues have been treated with behavior modification techniques along with anti-psychotic medications or attention deficit hyperactivity disorder medications.

Various orthopedic measures may be necessary to treat abnormalities affecting the bones and joints including surgery or the use of braces or orthopedic devices. Various dental procedures may be used to treat individuals. Smoothing over or grinding down the sharp edges of teeth, prophylactic use of crowns, the use of a night-guard and other orthodontic treatments may be considered. Extracting teeth to prevent self-mutilation has also been done.

Treatment of neurotrophic keratitis can include a procedure in which the eyelids are sewn together to narrow the opening (tarsorrhaphy), plastic surgery to repair the cornea (keratoplasty), replacement of part or all of an affected cornea with healthy corneal tissue from a donor (scleral corneal graft), and special contact lenses that protect the cornea (scleral bandage lens). These contact lenses create a space between the front of the cornea and the back of the lenses that fills with a sterile saline solution.

Regular, daily inspection for unrecognized or unrealized injury is important as well.

The most known documentary about this seems only to be avaiable via purchase from the producer on vimeo demand:
A Life Without Pain


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GenociderSyo

Syo
kiwifarms.net
Bosma Arhinia Microphthalmia Syndrome - BAM Syndrome
(Less then 100 cases have ever been reported)

This disorder has 3 main featres:
  • Complete absence of the nose​
  • Eye defects​
  • Absent sexual maturation​
Examples of the eye problems an include having no tear ducts to Microphthalmia (very small eyes with blindness). Boys may be born with micropenis and/or undescended testes. Girls will not develop breasts or have menstrual periods. There is no effect on intelligence nor decrease in life expectancy, This disorder occurs spontaneously in the egg or sperm cell and is not inherited from the parents.

Children with this disorder have a very small (hypoplastic) nose or usually no nose at all. They also lack the internal parts of the olfactory system so cannot smell, those with hypoplastic nose may in rare cases be able to detect very strong, irritating odors.

An issue occurs when babies are born without a nose since babies do not instinctively use their mouths to breath or use their noses to breath when eating. Some will need temporary tracheotomies and oxygen to breath, it is also possible that there will be blockage of lower airways requiring surgery. They may also need extra support with feeding due to this. Children with this disorder may have abnormally small or missing eyes, issues with the iris, issues with the pupils, cleft eyeball, cataracts and all have no tear ducts. They may also have issues with the retina and most will have progressive vision loss if born with sight. They may have other facial differences such as cleft lip or cleft palate, abnormal external ears (too large or too small), and crowded or missing teeth. The reproduction system anomalies are caused by the hypothalamus which does not make the hormone GnRH (gonadotropin-releasing hormone) with this disorder.

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Frank D'arbo

It is 5 am and You are Listening to Los Angeles
True & Honest Fan
kiwifarms.net
I had a friend who got diagnosed with this back when she was in middle school and it fucked her over pretty badly

All I remember though, is that
  • She had to be in her room at almost all times
  • Had something similar to short fatigue syndrome in that she had very little energy in her and because of this she couldn't go out often
  • there's no known cure for it
anyone know what im talking about, because I can't remember exactly what disease this is
 

Meiwaku

キウィフルーツの赤い乳首猿
kiwifarms.net
I had a friend who got diagnosed with this back when she was in middle school and it fucked her over pretty badly

All I remember though, is that
  • She had to be in her room at almost all times
  • Had something similar to short fatigue syndrome in that she had very little energy in her and because of this she couldn't go out often
  • there's no known cure for it
anyone know what im talking about, because I can't remember exactly what disease this is
Narcolepsy (this is related to sleep tho)? Chronic fatigue syndrome? Fibromyalgia? (It has energy and sleep elements)
 

Frank D'arbo

It is 5 am and You are Listening to Los Angeles
True & Honest Fan
kiwifarms.net
Narcolepsy (this is related to sleep tho)? Chronic fatigue syndrome? Fibromyalgia? (It has energy and sleep elements)
70% sure its Fibromyalgia, 30% its Chronic Fatigue, I'm looking into it right now

Thanks so much
 

GenociderSyo

Syo
kiwifarms.net
Marshall Smith Syndrome
(Only 50 Known Cases Worldwide)

The main feature of this disorder is faster than normal bone growth. This leads to low muscle tone, muscle weakness, and sometimes difficulties in gaining weight. They also tend to have abdominal hernias (umbilical hernias), intellectual developmental delays, psychomotor delays (slowing down of thought and voluntary movements), and/or breathing difficulties. The abnormal nexk extension due to the bone growth can lead to high-pitched noisy breath and the tongue blocking the airway. The windpipe itself tends to have abnormal development of the structure that stops foods and liquids from entering the windpipe.

This disorder tends to lead to facial differences such as a long head with a prominent forehead, prominent eyes, an upturned nose with a low nasal bridge, and excessive hair growth. The patient’s eye whites may appear bluish, and the lower jawbone may be smaller than average. Their fingertips may appear narrow while the rest of the finger may appear broad.

There may also be a shorter breastbone, as well as a deep crease between the big toe and the second toe. Some brain abnormalities may occur, including atrophy (loss of brain cells), macrogyria (larger than normal grooves in the brain), or a missing corpus callosum. They have poor immune systems, and on rare occasions, babies with this syndrome could be born with part of their intestines outside of their bodies via the belly button.

This disorder ususally lead to death in early infancy or toddlerhood due to respiratory issues, but now more and more are living into childhood. has long been considered a childhood condition because affected individuals did not typically survive past childhood.



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Resources:
Marshall Smith Research Foundation
Phoenix's Life with Marshall Smith Syndrome Youtube Channel
Patient Guide Attached
 

Attachments

  • Standards of Care MSS in English published.pdf
    61.6 MB · Views: 5
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Pissmaster

True & Honest Fan
kiwifarms.net
Bosma Arhinia Microphthalmia Syndrome - BAM Syndrome
(Less then 100 cases have ever been reported)
This disorder has 3 main featres:
  • Complete absence of the nose​
  • Eye defects​
  • Absent sexual maturation​
Examples of the eye problems an include having no tear ducts to Microphthalmia (very small eyes with blindness). Boys may be born with micropenis and/or undescended testes. Girls will not develop breasts or have menstrual periods. There is no effect on intelligence nor decrease in life expectancy, This disorder occurs spontaneously in the egg or sperm cell and is not inherited from the parents.

Children with this disorder have a very small (hypoplastic) nose or usually no nose at all. They also lack the internal parts of the olfactory system so cannot smell, those with hypoplastic nose may in rare cases be able to detect very strong, irritating odors.

An issue occurs when babies are born without a nose since babies do not instinctively use their mouths to breath or use their noses to breath when eating. Some will need temporary tracheotomies and oxygen to breath, it is also possible that there will be blockage of lower airways requiring surgery. They may also need extra support with feeding due to this. Children with this disorder may have abnormally small or missing eyes, issues with the iris, issues with the pupils, cleft eyeball, cataracts and all have no tear ducts. They may also have issues with the retina and most will have progressive vision loss if born with sight. They may have other facial differences such as cleft lip or cleft palate, abnormal external ears (too large or too small), and crowded or missing teeth. The reproduction system anomalies are caused by the hypothalamus which does not make the hormone GnRH (gonadotropin-releasing hormone) with this disorder.

Oh hey cool it's Final Fantasy Tactics characters in real life
 

Frank D'arbo

It is 5 am and You are Listening to Los Angeles
True & Honest Fan
kiwifarms.net
Narcolepsy (this is related to sleep tho)? Chronic fatigue syndrome? Fibromyalgia? (It has energy and sleep elements)
70% sure its Fibromyalgia, 30% its Chronic Fatigue, I'm looking into it right now

Thanks so much
If there's any similar related illnesses it would be cool if anyone could mention it because I'm curious now


Also neat thread OP
 
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