What is POMC? The POMC Series

Image from Google.com

Good morning my lovelies!

I'm very excited for the first post in what I've called 'The POMC Series' which will explain in as much detail as possible and as accurately as I am aware how the condition works and affects my daily life and such. I will be referring to my development a fair bit throughout the writing of these posts unless I have information I am allowed to use regarding other people; I'll refer to myself as I have no right to assume how other people have developed with this condition or how they cope. Hopefully I'll be able to get interviews and written articles from those I've been connecting with. Right, now I will move on to the crux of the matter and start with all the science-y stuff! YEY!

What exactly is POMC?

POMC is a gene in the body that everybody* has and contributes to their genetic makeup, it gives instructions to the body to make a protein called pro-opiomelanocortin, which after production is split into smaller pieces called peptides. These peptides all have a very different role in the body, mainly sticking proteins into different areas of the body to alert signalling pathways to control different body parts/systems. Think of it like a car, if you put the keys in it signals for the ignition to come on, then the engine, if something in that process within the car goes missing the job can’t be done. 

How does POMC work?

Pro-opiomelanocortin produces another protein called adrenocorticotrophic hormone (ACTH) which sticks to something called a Melanocortin receptor (MC#R) of which there are 5  in the body. ACTH sticks to MC2R which releases cortisol that is in control of maintaining blood sugar levels, protects the body from stressors and stops inflammation; people who have this part “missing” are at great risk of developing kidney problems, adrenal insufficiency, blood sugar will skyrocket and are often insulin resistant. This is associated with the POMC deficiency disease in some cases, however in my case doctors are unsure as to why only my POMC gene and MC4R (which I will get to later) is non-existent. In terms of health my blood sugar often goes quite low and I am at risk of hypoglycaemic shock. I also have significant resilience to stress. 

Three more peptides of POMC similar to ACTH are alpha- beta- and gamma-melanocyte stimulating hormone (a-MSH etc.) Alpha is responsible for producing pigment in skin and hair and attaches to MC1R, suggesting that those with this receptor inactive or missing should have red hair, green eyes and pale skins as they will lack melanin. I do not have this as I am a natural blonde with olive skin and very green eyes although I have connected with individuals who have shown typical features suggestive of a lack of MC1R.

Beta plays a role in weight gain regulation by sticking to MC4R, which I mentioned earlier. It signals the receptor to help keep even ground between energy taken from food and energy stored in the body, those missing this so tee more energy from food than is necessary and will find it difficult if not impossible to release any large amount of that energy. As a child the Professor whose care I was in explained it to me in a particular way:

Imagine a light switch in your head, in most people when that light switch is on that tells them when they are hungry or not, yours doesn't turn off, so that means that your body always thinks your hungry and will look after the energy you get from food better than most people would. This means that it’s hard for that energy to get out of your body and makes it much harder for you to lose the weight. 

As I got older more and more doctors explained it to me, they would explain that because the energy from this faulty receptor stays within the body it’s almost like fighting with myself to try and release that energy as it’s hellbent on storing it. I like to think of it that my body is storing the energy for a Walking Dead type of affair and then it’ll miraculously start to work and I can be as badass as Rick Grimes… that’ll never happen, right? Anyway back on topic. 

It’s suggested that MC3R is involved with another hormone to regulate sodium within the body and keep cholesterol levels down, once again it is important to note that each case is different with some overarching similarities in the conditions but I have perfectly normal if not healthy levels of cholesterol, some individuals are not as lucky as us by any means and are at risk of very serious complications such as heart attacks, fatty livers and so on. 

The final MCR is MCR5 which unfortunately I know very little about. Although not a great deal is understood about all of this by myself I am doing by best to try and describe it as well and accurately as possible, the information I have obtained has been through extensive phone calls from highly trained and experiences nurses, Doctors and informative websites specialising is rare genetic obesity diseases.

Other information

So basically, this condition is characterised by extremely early onset obesity, that weight gain is not likely to stop and can be very rapid, in the last 6 months I have gained 5 stone despite doing over 6 hours per week exercise and eating a diet of less than 1200 calories per day. That is an example of how serious the condition is. 

• It causes extreme unrelenting hunger and excessive eating, as a child and I know this is true for others who have the condition, the fridge and food was controlled massively, I was monitored and watched in the kitchen a lot of the time but nobody could understand (obviously at the time I didn't know it was the best thing for me) that I was desperately hungry and just wanted to stop that feeling. 
• The main production of these hormones are centred around the pituitary gland, responsible for hormone production. 
• It affects the endocrine system.
• Symptoms can be different from boys and girls, for example I spoke to a nurse yesterday who said gynaecology issues in girls may or may not be related to the POMC deficiency, which are definitely present in myself but I'm unsure about other women who have this. 
• Weight gain can continue despite rigorous exercise and good diet. 
• There are 50 officially recorded cases of POMC, my dad and me being 2 of those and it is estimated it is only between 100-500 people globally that may have the condition or some variant of it. 
• It is not curable and as of right now there is no treatment whatsoever, although some drugs are being tested right now and have seen extremely hopeful results for some, I am not eligible for the trial this time but hopefully next time. 

I feel I need to point out this this disease is extremely scary as I and those others suffering with it have uncontrollable weight gain that, frankly could be fatal to those suffering from it if it puts too much strain on our hearts, so please again just try to get the word out, help however you can share the posts or talk about it with friends because it all helps raise awareness. All of the information is as accurate and updated as possible, I obtained the info from highly trained and experienced doctors, nurses and practitioners as well as websites specialising in rare genetic obesity disorders. 

Thank you all for the amazing reception that the previous post received, I was so overwhelmed and really feel like we can all help raise awareness for this awful condition!! 

Have a fab day everyone!