Homemade Hope
Raising a rare girl, In a prepackaged world
What is spontaneous CASK muation?
This is sophias "type" of pch. the types refernced abouve are mostly numbered types (ie: 1-6 ) CASK muatation is another subtype of PCH that is lesser known and very rare. Spontaneous is referencing the fact that this just happened .. we didnt pass it to her and couldnt give it to another child even if we tried too.
The CASK gene is located on the short leg of the X chromosome. Because it is an X linked gene this diease is typically immediatly fatal in boys as they only have one x chromosome.
Biologically speaking what does this mean?
The CASK gene is reponsible for the process of her brain creating a specifice protien based nurotransmitter that her brain needs in order to properly communicate between itself and her muscles. The lack of this protien causes things to get mixed up and backed up in her brain sometimes and also makes it hard for her to control her movements at times. This protien is essential in brain growth and is the primary reason for her undersized pons, cerrebellum and frontl lobe
What is the prevelence?
Sophia is the 54th confirmed case in the entire world. This disease is so rare that its not even listed with most of the rare disease orginizations in the world and no doctor or scientist has been able to define accurate enough numbers to create a number like one in every ___ kids gets this.. noone knows. but 54 against the worlds population... its RARE
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How long have they known about PCH?
From what i can tell the CASK mutation was only discovered for the first time in 2010 thanks to advances in the genetic diagnostics feild. A cutting edge test called whole exome sequencing was developed and only then have they been able to diagnose this mystery disease
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What are her treatment options?
Absolutly nothing. there is no traditional treatment plan that can fix whats written on her DNA.
Shes got unconditional love, we put forth never ending effort , practice building her skills everyday, make our own hope and hold faith beyone meaure or reason.
all the books say AT BEST ill only have her for another two decades...thankfully ive decided im writting my own rulebook .
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Pontocerrabellar Hypoplasia:
(ponto-sarah-bell-er Hype-o-play-zcha)
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. People with these conditions have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.
Researchers have described many forms of pontocerebellar hypoplasia. These forms have somewhat different signs and symptoms and different genetic causes. All forms of this condition are characterized by abnormal brain development, problems with movement, delayed development, and intellectual disability. The signs and symptoms are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. * text copied from the genetics home reference website*