Bonus...
Because life happens, and it's tough, and rough, and beautiful...
Videos listed in this order:
Videos listed in this order:
Trache (tracheostomy tube)
Cleft Palate Disorder (22q) DiGeorge Syndrome Down Syndrome Williams Syndrome Cerebral Palsy Fetal Alcohol Spectrum Disorder (FASD) Stromme Syndrome Sensory Processing Disorder (SPD) Foxp2 Deletion |
Treacher Collins
Pfeiffer Syndrome Apert Syndrome Grayson's Syndrome Fragile X Syndrome Angelmann's Syndrome Amyotrophic Lateral Sclerosis (ALS or "Lou Gehrig's Disease") |
Alzheimer's Disease
Koolen Syndrome Rubenstein-Tabyi Syndrome Crouzon Syndrome Rett Syndrome Lyme Disease ...more coming soon |
Trache (tracheostomy tube)
"...tracheostomy, is a surgical procedure which consists of making an incision (cut) on the anterior aspect (front) of the neck and opening a direct airway through an incision in the trachea (windpipe). The resulting stoma (hole) can serve independently as an airway or as a site for a tracheal tube or tracheostomy tube[1] to be inserted; this tube allows a person to breathe without the use of the nose or mouth."
https://en.wikipedia.org/wiki/Tracheotomy
https://en.wikipedia.org/wiki/Tracheotomy
|
|
|
Cleft Palate Disorder
"A "cleft" is a split or a divide. Cleft lips and palates happen before birth. A baby can have a cleft lip, cleft palate, or both. A cleft lip may be on one or both sides of the upper lip. The split may also be in the upper jaw and gum.A cleft palate is an opening in the roof of the mouth. The front part is the bony hard palate. The back part is the soft palate, made of muscle. A cleft palate can be on one side or both sides of the mouth..."
- https://www.asha.org/public/speech/disorders/CleftLip/
- https://www.asha.org/public/speech/disorders/CleftLip/
|
|
|
(22q) DiGeorge Syndrome
"DiGeorge syndrome, more accurately known by a broader term — 22q11.2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems... Medical problems commonly associated with 22q11.2 deletion syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems. The number and severity of symptoms associated with 22q11.2 deletion syndrome vary. However, almost everyone with this syndrome needs treatment from specialists in a variety of fields..."
https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543
https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543
|
|
|
Down Syndrome
"Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as it grows in the womb and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby... Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children..."
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
|
|
|
|
|
|
Williams Syndrome
"Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning challenges. These often occur side by side with striking verbal abilities, highly social personalities and an affinity for music. Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7..."https://williams-syndrome.org/what-is-williams-syndrome
|
|
|
Cerebral Palsy
"Cerebral palsy (CP) is a group of disorders that affect a person’s ability to move and maintain balance and posture. CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. CP is caused by abnormal brain development or damage to the developing brain that affects a person’s ability to control his or her muscles.The symptoms of CP vary from person to person. A person with severe CP might need to use special equipment to be able to walk, or might not be able to walk at all and might need lifelong care. A person with mild CP, on the other hand, might walk a little awkwardly, but might not need any special help. CP does not get worse over time, though the exact symptoms can change over a person’s lifetime..."
https://www.cdc.gov/ncbddd/cp/facts.html
https://www.cdc.gov/ncbddd/cp/facts.html
|
|
|
|
|
|
Fetal Alcohol Spectrum Disorder (FASD)
"Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. These effects can include physical problems and problems with behavior and learning. Often, a person with an FASD has a mix of these problems..."
https://www.cdc.gov/ncbddd/fasd/facts.html
https://www.cdc.gov/ncbddd/fasd/facts.html
|
|
|
Stromme Syndrome
A very rare genetic condition called Stromme syndrome, which results in microcephaly (small brain), and impaired vision and motor functioning. At this time there are thirteen (13) people given this diagnosis.
"Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment..."
https://www.omim.org/entry/243605
"Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment..."
https://www.omim.org/entry/243605
|
|
...coming soon
|
Sensory Processing Disorder (SPD)/ Sensory Integration Dysfunction
"Sensory processing disorder is a condition in which the brain has trouble receiving and responding to information that comes in through the senses. Formerly referred to as sensory integration dysfunction, it is not currently recognized as a distinct medical diagnosis. Some people with sensory processing disorder are oversensitive to things in their environment. Common sounds may be painful or overwhelming. The light touch of a shirt may chafe the skin..."
https://www.webmd.com/children/sensory-processing-disorder#1
Understanding SPD: https://www.spdstar.org/basic/understanding-sensory-processing-disorder
https://www.webmd.com/children/sensory-processing-disorder#1
Understanding SPD: https://www.spdstar.org/basic/understanding-sensory-processing-disorder
|
|
|
...coming soon
|
Foxp2 Deletion
"FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals have a speech problem known as apraxia, which makes it difficult to produce sequences of sounds, syllables, and words. This condition results from abnormalities involving parts of the brain that plan and coordinate movements of the lips, mouth, and tongue..."
https://ghr.nlm.nih.gov/condition/foxp2-related-speech-and-language-disorder
https://ghr.nlm.nih.gov/condition/foxp2-related-speech-and-language-disorder
|
Treacher Collins
"Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have an average intelligence...."
https://en.wikipedia.org/wiki/Treacher_Collins_syndrome
https://en.wikipedia.org/wiki/Treacher_Collins_syndrome
|
|
|
|
Pfeiffer Syndrome
"Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common..."
https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome
https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome
|
|
|
Apert Syndrome
"Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly)..."
https://ghr.nlm.nih.gov/condition/apert-syndrome
https://ghr.nlm.nih.gov/condition/apert-syndrome
|
|
|
Grayson's Syndrome
"Grayson Kole Smith was born blind, deaf, missing a third of his skull, with a hole in his heart and with severe facial, spinal and cranial deformities. His family says doctors put him on end-of-life-care and told his parents Jenny and Kendyl to say their goodbyes, predicting that he would die in a month. However, Grayson defied the odds and is now six – and has baffled doctors by surviving 36 life-threatening surgeries and learning to speak..."
https://metro.co.uk/2019/07/13/boy-born-with-birth-defects-so-rare-his-syndrome-was-named-after-him-10252316/
https://metro.co.uk/2019/07/13/boy-born-with-birth-defects-so-rare-his-syndrome-was-named-after-him-10252316/
|
...coming soon
|
...coming soon
|
Fragile X Syndrome
"Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled..."
- https://ghr.nlm.nih.gov/condition/fragile-x-syndrome
...Also, this is the most common "genetic" cause of Autism that the medical and research community is aware of.
Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled..."
- https://ghr.nlm.nih.gov/condition/fragile-x-syndrome
...Also, this is the most common "genetic" cause of Autism that the medical and research community is aware of.
|
|
...coming soon
|
... more coming soon
Angelman Syndrome
"Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual..."
- https://ghr.nlm.nih.gov/condition/angelman-syndrome
- https://ghr.nlm.nih.gov/condition/angelman-syndrome
|
...coming soon
|
Amyotrophic Lateral Sclerosis (ALS or "Lou Gehrig's Disease")
"ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. A-myo-trophic comes from the Greek language. "A" means no. "Myo" refers to muscle, and "Trophic" means nourishment – "No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates, it leads to scarring or hardening ("sclerosis") in the region..."
- http://www.alsa.org/about-als/what-is-als.html
- http://www.alsa.org/about-als/what-is-als.html
|
...coming soon
|
Alzheimer's Disease
"Alzheimer's disease is a progressive disorder that causes brain cells to waste away (degenerate) and die. Alzheimer's disease is the most common cause of dementia — a continuous decline in thinking, behavioral and social skills that disrupts a person's ability to function independently. The early signs of the disease may be forgetting recent events or conversations. As the disease progresses, a person with Alzheimer's disease will develop severe memory impairment and lose the ability to carry out everyday tasks..."
- https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/symptoms-causes/syc-20350447
- https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/symptoms-causes/syc-20350447
|
...coming soon
|
Koolen-de Vries Syndrome
"Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy)..."
https://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome
https://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome
|
Rubinstein-Taybi Syndrome
"Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing particular types of noncancerous brain and skin tumors."
https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome
https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome
|
|
...coming soon
|
Crouzon Syndrome
"Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few individuals with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. Individuals with Crouzon syndrome usually have normal intelligence..."
https://ghr.nlm.nih.gov/condition/crouzon-syndrome
https://ghr.nlm.nih.gov/condition/crouzon-syndrome
|
|
|
Rett Syndrome
"Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs primarily in girls and more rarely in boys. Rett syndrome leads to severe impairments, affecting nearly every aspect of the child’s life..."
https://www.rettsyndrome.org/
https://www.rettsyndrome.org/
|
|
...coming soon
|
Lyme Disease
"Lyme disease, also known as Lyme borreliosis, is an infectious disease caused by the Borrelia bacterium which is spread by ticks.[2] The most common sign of infection is an expanding area of redness on the skin, known as erythema migrans, that appears at the site of the tick bite about a week after it occurred... Lyme disease is diagnosed based on symptoms, objective physical findings (such as erythema migrans (EM) rash, facial palsy, or arthritis), history of possible exposure to infected ticks, and possibly laboratory tests. "
https://en.wikipedia.org/wiki/Lyme_disease
https://en.wikipedia.org/wiki/Lyme_disease
|
|
|
|
|
...coming soon
|
Escobar Syndrome (Multiple pterygium syndrome)
"In people with multiple pterygium syndrome, Escobar type, the webbing typically affects the skin of the neck, fingers, forearms, inner thighs, and backs of the knee. People with this type may also have arthrogryposis. A side-to-side curvature of the spine (scoliosis) is sometimes seen. Affected individuals may also have respiratory distress at birth due to underdeveloped lungs (lung hypoplasia). People with multiple pterygium syndrome, Escobar type usually have distinctive facial features including droopy eyelids (ptosis), outside corners of the eyes that point downward (downslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), a small jaw, and low-set ears. Males with this condition can have undescended testes (cryptorchidism). This condition does not worsen after birth, and affected individuals typically do not have muscle weakness later in life."
https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome
https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome
|
...coming soon |
...coming soon
|