#proopiomelanocortinawareness

[pomcmomma]

Yesterday was SO exciting! Facebook is featured our story on their main page causing it to go viral and Nate’s Page ( Nate’s Story one boy an ocean of friends) followers jumped over 3,000!! There were hundreds and hundreds of comments and well wishes and I went through them all for as long as I could stay awake 🤪🤪 THANK YOU EVERYONE for joining our journey 🌴🌴#RareDiseaseDayAwareness #pomcawareness #proopiomelanocortinawareness #everydayisrarediseaseday #ineedanap #pomcisland🌴 #pomcislandzen🌴 #pomcislandmommay🌴 #pomcislandmorning🌴 #justfiveminutes🌴 #justfivemoreminutes🌴 #justmeandmygreentea🌴 #justmeandtheexplodingtardis✨ https://www.instagram.com/p/Bud9UtZh86G/?utm_source=ig_tumblr_share&igshid=7jr6z2qifr4n

[pomcmomma]

Yesterday was SO exciting! Facebook is featured our story on their main page causing it to go viral and Nate’s Page ( Nate’s Story one boy an ocean of friends) followers jumped over 3,000!! There were hundreds and hundreds of comments and well wishes and I went through them all for as long as I could stay awake 🤪🤪 THANK YOU EVERYONE for joining our journey 🌴🌴#RareDiseaseDayAwareness #pomcawareness #proopiomelanocortinawareness #everydayisrarediseaseday #ineedanap #pomcisland🌴 #pomcislandzen🌴 #pomcislandmommay🌴 #pomcislandmorning🌴 #justfiveminutes🌴 #justfivemoreminutes🌴 #justmeandmygreentea🌴 #justmeandtheexplodingtardis✨ https://www.instagram.com/p/Bud9UtZh86G/?utm_source=ig_tumblr_share&igshid=7jr6z2qifr4n

[pomcmomma]

Just sat outside....think I’m gonna go back in... it’s a grey drizzling day. 95% humidity and a cool 64 ... YaY!!! spring is back!!! Oh! Today is World Rare Disease Day #RDD2019 #rarediseasesay #pomcisland🌴#pomcislandrhythm🌴 #proopiomelanocortinawareness #proopiomelanocortindeficiency #proopiomelanocortindeficiency #pomc #careaboutrare #showyoucare #caringforthecaregiver https://www.instagram.com/p/BubYE9NBq3S/?utm_source=ig_tumblr_share&igshid=17mo7qt4hw7nh

[pomcmomma]

For Rare disease day February 28th I want to share some medical information. If you find it hard to understand just imagine that this was the ONLY information given to you when your child was diagnosed... those were dark days on our Island... #NooneshouldbedroppedonadesertedIslandalone #pomcisland #pomcislandstrong #oneboyanoceanoffriends #proopiomelanocortindeficiency #proopiomelanocortinawareness #proopiomelanocortindefficiency #POMCgene ..............................................................Other Names for POMC: ACTH adrenocorticotropic hormone adrenocorticotropin alpha-melanocyte-stimulating hormone alpha-MSH beta-endorphin beta-LPH beta-melanocyte-stimulating hormone beta-MSH CLIP COLI_HUMAN corticotropin-like intermediary peptide corticotropin-lipotropin gamma-LPH gamma-MSH lipotropin beta lipotropin gamma LPH melanotropin alpha melanotropin beta melanotropin gamma met-enkephalin MSH NPP opiomelanocortin prepropeptide POC pro-ACTH-endorphin pro-opiomelanocortin pro-opiomelanocortin preproprotein proopiomelanocortin preproprotein Related Information https://www.instagram.com/p/BuP3Ohoh4XZ/?utm_source=ig_tumblr_share&igshid=foqj290qth2v

[pomcmomma]

For Rare disease day February 28th I want to share some medical information. If you find it hard to understand just imagine that this was the ONLY information given to you when your child was diagnosed... those were dark days on our Island... #NooneshouldbedroppedonadesertedIslandalone #pomcisland #pomcislandstrong #oneboyanoceanoffriends #proopiomelanocortindeficiency #proopiomelanocortinawareness #proopiomelanocortindefficiency #POMCgene ................................................................8) Cytogenetic Location: 2p23.3, which is the short (p) arm of chromosome 2 at position 23.3 Molecular Location: base pairs 25,160,853 to 25,168,851 on chromosome 2 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI) https://www.instagram.com/p/BuP2FeqBghx/?utm_source=ig_tumblr_share&igshid=142m26nddwn0t

[pomcmomma]

For Rare disease day February 28th I want to share some medical information. If you find it hard to understand just imagine that this was the ONLY information given to you when your child was diagnosed... those were dark days on our Island... #NooneshouldbedroppedonadesertedIslandalone #pomcisland #pomcislandstrong #oneboyanoceanoffriends #proopiomelanocortindeficiency #proopiomelanocortinawareness #proopiomelanocortindefficiency #POMCgene .............................................................7) Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes. Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which can cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal. Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics. https://www.instagram.com/p/BuP0Y9yBOSu/?utm_source=ig_tumblr_share&igshid=1tqiga3ha9oe7

[pomcmomma]

For Rare disease day February 28th I want to share some medical information. If you find it hard to understand just imagine that this was the ONLY information given to you when your child was diagnosed... those were dark days on our Island... #NooneshouldbedroppedonadesertedIslandalone #pomcisland #pomcislandstrong #oneboyanoceanoffriends #proopiomelanocortindeficiency #proopiomelanocortinawareness #proopiomelanocortindefficiency #POMCgene .....................................................6)Several mutations in the POMC gene have been found in people with proopiomelanocortin (POMC) deficiency. These gene mutations lead to production of an abnormally short version of the POMC protein or no protein at all. As a result, there is an absence of the peptides made from POMC, including ACTH, α-MSH, β-MSH, β-endorphin, and sometimes γ-MSH. Loss of these peptides prevents signaling through their receptor proteins and disrupts certain functions in the body. Without ACTH, there is a reduction in cortisol production, which leads to low blood sugar (hypoglycemia) and other problems in affected individuals. Decreased α-MSH in the skin reduces pigment production in melanocytes, which results in the red hair and pale skin often seen in people with POMC deficiency. Loss of signaling in the brain stimulated by α-MSH and β-MSH dysregulates the body's energy balance, leading to overeating and severe obesity. Shortage of γ-MSH or β-endorphin does not seem to cause health problems in people with this condition. https://www.instagram.com/p/BuP0HM0B6oq/?utm_source=ig_tumblr_share&igshid=twuab0q0xrrv

[pomcmomma]

For Rare disease day February 28th I want to share some medical information. If you find it hard to understand just imagine that this was the ONLY information given to you when your child was diagnosed... those were dark days on our Island... #NooneshouldbedroppedonadesertedIslandalone #pomcisland #pomcislandstrong #oneboyanoceanoffriends #proopiomelanocortindeficiency #proopiomelanocortinawareness #proopiomelanocortindefficiency #POMCgene .............................................................5) Another peptide produced from POMC is β-endorphin. Attachment of β-endorphin to proteins in the brain called opioid receptors stimulates signaling for pain relief. https://www.instagram.com/p/BuPzbyNBgyP/?utm_source=ig_tumblr_share&igshid=wol1kq7aplw

[pomcmomma]

For Rare disease day February 28th I want to share some medical information. If you find it hard to understand just imagine that this was the ONLY information given to you when your child was diagnosed... those were dark days on our Island... #NooneshouldbedroppedonadesertedIslandalone #pomcisland #pomcislandstrong #oneboyanoceanoffriends #proopiomelanocortindeficiency #proopiomelanocortinawareness #proopiomelanocortindefficiency #POMCgene .........................................................Studies show that γ-MSH binds to melanocortin 3 receptor (MC3R). Signaling stimulated by this interaction appears to be involved in regulating the amount of sodium in the body and controlling blood pressure, although the mechanism is unclear. https://www.instagram.com/p/BuPy_xWhRJQ/?utm_source=ig_tumblr_share&igshid=167g7cwxjmlmn

[pomcmomma]

T For Rare disease day February 28th I want to share some medical information. If you find it hard to understand just imagine that this was the ONLY information given to you when your child was diagnosed... those were dark days on our Island... #NooneshouldbedroppedonadesertedIslandalone #pomcisland #pomcislandstrong #oneboyanoceanoffriends #proopiomelanocortindeficiency #proopiomelanocortinawareness #proopiomelanocortindefficiency #POMCgene ............................................................. 3)The β-MSH peptide plays a role in weight regulation by binding to melanocortin 4 receptor (MC4R). Signaling through this receptor in the brain helps maintain the balance between energy from food taken into the body and energy spent by the body. The correct balance is important to control eating and weight. The α-MSH peptide can also bind to MC4R and help maintain the correct energy balance. https://www.instagram.com/p/BuPyPucBPc4/?utm_source=ig_tumblr_share&igshid=d3mbzlzr6g36

[pomcmomma]

POMC gene proopiomelanocortin ............................................................. For Rare disease day February 28th I want to share some medical information. If you find it hard to understand just imagine that this was the ONLY information given to you when your child was diagnosed... those were dark days on our Island... #NooneshouldbedroppedonadesertedIslandalone #pomcisland #pomcislandstrong #oneboyanoceanoffriends #proopiomelanocortindeficiency #proopiomelanocortinawareness #proopiomelanocortindefficiency #POMCgene #proopiomelanocortin 2) Three similar peptides called alpha-, beta-, and gamma-melanocyte stimulating hormones (α-, β-, and γ-MSH) are also cut from the POMC protein. The primary role of α-MSH is in the pigment-producing cells of the skin and hair (melanocytes), where it binds to melanocortin 1 receptor (MC1R). This attachment stimulates the production and release of a pigment called melanin, which is the substance that gives skin and hair their color. https://www.instagram.com/p/BuPvjVvBi80/?utm_source=ig_tumblr_share&igshid=926auqiv162s

[pomcmomma]

Everyday I am impressed by this dynamic duo!!! They are my SuperHeros!! #servicedog #servicedogteam #servicedogsofinstagram #notallheroswearcapes #happyboyhappydog #pomcisland🌴 #proopiomelanocortinawareness🌴 #proopiomelanocortin🌴 #medicallyfragile #hemakesmesoproud🌴#servicedogtuck #NateTheGreat🌴 https://www.instagram.com/p/BwCwqEEJHOC/?utm_source=ig_tumblr_share&igshid=1a9l5i0cdqwm6

[pomcmomma]

Everyday I am impressed by this dynamic duo!!! They are my SuperHeros!! #servicedog #servicedogteam #servicedogsofinstagram #notallheroswearcapes #happyboyhappydog #pomcisland🌴 #proopiomelanocortinawareness🌴 #proopiomelanocortin🌴 #medicallyfragile #hemakesmesoproud🌴#servicedogtuck #NateTheGreat🌴 https://www.instagram.com/p/BwCwqEEJHOC/?utm_source=ig_tumblr_share&igshid=or0er908o3ij

[pomcmomma]

A beautiful afternoon on the @eastcoastgreenway ( yes, we hook her up to the leash whenever we meet up with anyone) #happyboyhappydog we went from 10th Street NSB to Park Ave Edgewater and back! #pomcisland🌴 #proopiomelanocortin #proopiomelanocortindeficiency #proopiomelanocortinawareness https://www.instagram.com/p/Bsgggr6hJ4R/?utm_source=ig_tumblr_share&igshid=1l08p9ftdjpfa

[pomcmomma]

I shouldn’t post when I’m not doing well... I end up seeing the things Nate CAN’T do. 💔 but now let me see the amazing things I find that challenge him and make him step outside his comfort zone..... thanks to the Step Up for Students Scholarship I am able to get things like this! Please let me see how he is so looked after and so loved. Let me NOT tear myself down but let me lift myself up... #PhysicalTherapy #OccupationalTherapy #pomcisland🌴 #proopiomelanocortindeficiency #proopiomelanocortinawareness #Amazingthingscanhappen https://www.instagram.com/p/Bqqo7uAhr-0/?utm_source=ig_tumblr_share&igshid=1edecy0eovx9l