Hello World! Long Time No See: An Update!

Well good day everybody! 

I hope everybody is doing really well? I am so glad I have a chance to be blogging again, the main reason for my absence, as per has been a mixture of university and my health, it's been pretty crappy all round at the moment to be honest. Here in the UK we were hit by the 'Beast from the East' earlier this month so the weather has been pretty crazy, feels like other than going to university I've been stuck in the house for so long! 

Myself and Simon are doing okay, as usual we are inundated with work, things keep going wrong but at least we are still having a lot of laughs along the way. 

I have so much to tell you all and I know these update posts aren't anywhere near as interesting as the POMC posts but thing is, I'm hoping to convey the message to people of what all aspects of life for someone with a genetic obesity disease is like, but I am super super excited to tell you all about something in particular soon! Some exciting things have been going on lately so I believe it is time to get on with the post.

So, in terms of my health things haven't been perfect but when are they? I'm gaining a tiny bit more weight, most likely not helped by the fact I haven't  been able to do as much exercise as usual because of weather and university taking up all of my time, or it could be the fact that my doctors have started me on a new progesterone medication that's meant that I am more likely to bloat and retain water. Don't get me wrong these tablets aren't as bad for my body compared to the last tablets I was on in terms of getting regular hormones but they definitely mess around with my body and emotions twice as much which is fun for all the family to deal with. Anywho, other than that I've been fighting migraines, sinus infections and some serious back pain lately, in fact the back pain has been so bad I've missed university because of it, a lot of the days lately I seem to be struggling to walk and experiencing more pain, I'm hoping to go to a local chiropractor and physiotherapist in the next couple of weeks and see if they can help with some exercises or manipulate my back. Doctors keep telling me to lose weight and my lordosis will improve... yeah because all of us with genetic obesity know how easy that is. Anyway that's roughly about it in terms of my health, there are a couple of routes I'm considering going down in terms of adding things to my diet and exercise regimen, although those are things for another post.

Me and the babies, Dusty left, Luna right.

In my last post I mentioned that our dog Bella sadly passed away, she's left a huge hole in all of our hearts but thankfully we now have two little things to take our mind off of it. Myself and Simon are now the proud parents (yes I said parents, I DON'T CARE IF YOU JUDGE US!) of a beautiful 14 week old little Chihuahua girl we have named Luna. She is THE most adorable little puppy in the world! We love her so much but she is definitely a lot to handle, at the moment she is waking up us every single night between 2 and 4 and then wakes up properly at 7am. Not fun on a Sunday morning I'll tell you that. She has a good little voice on her and will bark at you if you tell her not to do something which I find adorable, but she has an even better appetite, so far she has managed to drink coffee from Si

Our baby Luna on her first day home!

mon's unattended cup which he left on the table and she jumped over to get, she's stolen fish, cheese, toast, tomatoes, carrots, cake, popcorn, carbonated water, milk and lots more! None of this is ever given to her willingly either she's just like a little acrobat when she wants something!

Luna is the first pet I've been completely responsible for and I think me and Simon are doing pretty well so far. My Nana and Grandad have also adopted a 14 week old Chihuahua and Jack Russell Terrier crossbreed called Dusty, he is a total fluff ball, he'll sleep anywhere, loves a good cuddle, is very very noisy, has the personality of an old man and has a huge overbite which Simon says makes him look like he is constantly biting his lower lip in excitement which is hilarious. If you want to see a picture of another adorable puppy I highly recumbent heading over to Instagram and taking a look at the profile Tunameltsmyheart, because that dog is probably the sweetest little thing ever to exist and I live for that IG account. The puppies a

Nana's baby Dusty on his second day at home!

dore each other, they are honestly the best of friends and share the same food bowl, sleep together and are currently having an argument with one another while I write this. 

Other than rubbish health, adopting two puppies and stalking Instagram puppies I have actually been attending university haha! At the moment we are nearing the end of the second semester and it's scary how close we all are to dissertation time next September! At the moment I'm taking 3 modules, one on Medicalisation of society, another on a research module, a third is a placement module with a self-directed research study which I am really enjoying because I have been seriously considering a career in social research. I've got a fair few assignments due in, I started one yesterday and have pretty much finished so I've got through that one quickly, I have 2 assessments for each module so I have 6 things to hand in before the end of May, lots going on heck which is why I have had so little time to blog with university and new puppies. Hopefully I can get all of those assessments in well before the deadline and can finish pretty early, fingers crossed. A few nights ago I had a crisis, well two actually, recently my car has been playing up which has meant I have had a battery change and breakdown recovery out more than I care to think about, and the other is that when I sat down to write my essays up my laptop completely died on me so I had to head out and buy a new one complete with Microsoft, security, an external hard drive and everything else that goes along with a new laptop. Admittedly it is amazing compared with my old one but I bought an Acer and have never ever had an issue with an Acer laptop, in fact I think they're the best type to get for uni and college, just my personal preference mind you. 

My new laptop - Image from Google

Anyway back to the topic of university, last year I mentioned I had a few things happen, such as a meeting with the president of my students union and an interview with a journalist, unfortunately the journalist let me down pretty badly, after giving out personal information for a good cause you kind of expect something to be done about it but at this point I'm so annoyed I don't even want to be involved in it anymore. 

The meeting at the union went great but because of timing and things we never managed to get an awareness day for genetic obesity running. HOWEVER... me and my friend who runs another blog about living with her own rare disease, we have decided to come together ad there are a number of issues at our university which mean people with invisible disabilities are not catered for as much as visibly disabled individuals would be. To myself and Annie this just isn't acceptable, in a world where disability rights movement is pretty strong, people shouldn't have to justify their disability simply because it isn't visible.

Official logo for out new community at uni!

 Therefore, we have developed a community at university, similar to a society, specifically for individuals with, people caring for or those interested in invisible disabilities and disorders; we are known as the Invisible Disabilities and Disorders Community, or I.D.D. for short, we aim to provide a safe space for people with invisible disabilities to socialise without judgement, we want to make people's university experience much more empowering and we want to make changes to the university to ensure it is more inclusive to everybody who wants to attend! I think this is a huge step for the university as well as a major step for myself as this is something I've been passionate about for years and honestly can not wait to get started! 

So, all in all you can see its been a pretty busy month! I am glad to be able to blog again but again, my posts will be sporadic until I am able to get all of my inversely work sorted or at least a bit more manageable, I truly do hope you all have found thing post interesting because I enjoy telling you all when is going on in my life! I would love to hear thing things that you've been getting up to this month! If you have anything to say leave a comment or reach out to me as I'm always here to listen! 

Have an awesome day everybody!

Love Katy! xoxo

My Diet with POMC - The POMC Series

Hello there everybody!

How is everybody today? Hope all is well. Today's post in The POMC Series is all about my diet and how I cope with the hyperphagia caused by POMC deficiency disorder. I've always been very quiet and conscious of my diet but recently I've realised that my diet is actually a lot better than I thought. This post is not meaning to be bragging rights at all, like "oh my diet is so much better than yours" because the fact is it's not better than anybody's my diet is mine because this works well for me, I'm not always excessively hungry every second of the day nor do I skip or miss meals. 

I've heard from discussions recently that some people with POMC tend to keep an extremely low calorie diet and that seems to be going alright for some people and kudos to you if you've found a diet that seems to fit you and your body or needs because that's not an easy thing to do whatsoever, I mean take your average person, you try and find a diet that is satisfying, healthy and gives you all the nutrients you need at 1,000 calories or even much less in some circumstances... it's an exceptionally difficult thing to do, so well done! 

This post is also not going to be a complete run down of every single tiny thing I eat and drink each day because... well that would just be boring for me to write and probably for you to read, however if you would like me to do something like that in the future contact me privately and I shall look into putting something like that together to post. 

Anyway, I shall get on with the post right now. Overall, I've been to countless dieticians, exercise specialists and such, I've spoken to at least 5 different endocrine specialists who deal with my POMC from the RVI, my main doctors and nurses form Cambridge and each doctor and nurse has given me a different answer (with obvious similarities in the case of the specialists) to the question: "Which diet is best for me?"
Over the years I've tried many diets from carb-free, low fat, vegetarian, vegan and gluten free but none worked. Obviously, a dietician will tell me low fat, low sugar, low everything pretty much with a very low calorie intake, however doctors have told me (those from Cambridge and the RVI) that if I can maintain an exercise regimen with roughly equal output to my intake of calories and energy I should be able to manage my weight slightly easier, although it'll still have little effect on weight gain as I've been told with POMC it's extremely difficult to lose and much too easy to gain weight as the body retains as much energy from food as possible. Therefore from all the information I've gathered I've managed to set up a diet of roughly 1,200 calories per day, I've also recently been made aware that a high protein diet, the right kind of protein that is, can help in some circumstances with feeling hungry so often, I was recommended that snacks like nuts and Skyr yoghurt which is high in protein and very low in fat are snacks that may help. 

However, in terms of breakfasts I am, as I've said before unable to eat bread, it's just something about the texture and taste that makes me feel sick so I don't eat much of that whatsoever. I also struggle to eat on a morning at the best of times so breakfasts for me tent to be things such as homemade fruit smoothies and cereals like those high in fibre such as bran and oaty cereals, this allows me to get my fibre as well as getting fruit and natural sugars, my grandfather is friends with a man who often gives us fresh fruit and veg that he grows which is much nicer than supermarket produce, so it's very much homegrown stuff in the smoothies, skimmed or almond milk that kind of thing. Very tasty and surprisingly filling. If you make a larger one as well you could always take that with you to school, uni or work and make it last throughout the day. Stops me snacking at least. 
Again lunches tend to be kept very low in fat, small homemade pasta pots, soups, rice boxes usually keep me going, I love vegetables so grilled veg couscous is one of my favourite things, I usually have some kind of desert to go along with it and I enjoy making fruit boxes so I'll just make a mini fruit salad with different types of fruit or a small pot of mixed seeds and low fat vegan chocolate mixed in, although that one is a treat as I love seeds and chocolate!
Snacks tend to include a lot of nuts and seeds as I mentioned, sometimes I'll just buy a bag of carrots and snack on those until I'm satisfied, more yoghurt or crunching ice cubes are pretty much all I do for snacks.
Dinners for me are often much more protein based with fish playing a big part, definitely a fan of omega 3 over here ha! I enjoy experimenting with spices as does Simon so I'm quite happy to try different kinds of meats, vegetables and so on, usually dinner times are just a concoction of things we have thrown together (I make a mean shredded chicken salad as well!). It's really important for me that I keep an extremely low fat, low sugar and salt diet, protein is higher on my priority list than anything else, usually it's meat I crave anyway but honestly I do manage to stay under 1100 calories almost all of the time. Sometimes I go out to eat but that I on occasion every now and then, never a regular occurrence unless it needs to be as I tend to make my own lunches so I know exactly what is going into by body. When I do go out I love things like Japanese food so Nudo and YO! Sushi are two of my favourites and a lot of things on YO! Sushi also have the calories and nutritional value next to them on the menu so you know exactly what you can get and how it'll all add up at the end of the night. Most of the time I avoid things that are greasy or fast food because I know it'll make me feel sick as well as not do anything for my weight gain. 
in terms of drinks I only drink fizzy drinks they are now a no-go, I mainly rink water and flavoured water, always still. 

I've heard people many times over the years claim that food is the enemy with POMC warriors and that's all well and good if that is how you like to view it but in my personal opinion that's not how I ever want to view my condition. I see my body as doing me a favour... go with me for a sec. See, my body stores as much energy as it can because it doesn't work properly, therefore it's wires are crossed and thinks that I'm going to starve if I don't eat or get hungry a lot of the time (now I know this is the incorrect way of thinking about it but it helps me understand myself a bit better). So, because my body thinks it is helping me by storing all the energy and such from food it's up to me to control my own diet and exercise in order to guide my body in the right direction, almost like helping a child who has gotten something a bit wrong and needs some help, if you understand what I'm saying? That was very long winded ha. 

Once again, I thank everybody for reading this post and coming back to my blog, I hope if anybody is reading this with POMC or a child with POMC/LEPR or Prader Willi Syndrome recently diagnosed I hope I've helped a little.
xo. 

Getting and Coping with a Diagnosis - The POMC Series

Good day everybody!

How are you all doing today? Very good I hope. It's been a crazy hectic week what with York and a few other things going on at home, getting ready for university is so exciting and I've already got my backpack ready to go! Nothing like enthusiasm, eh? Anyway, I've been working on today's post for a while and I've actually had most of it written up for quite a few days now but it's something I've been meaning to discuss for some time; today I want to talk about getting and coping with a diagnosis of POMC or any other genetic obesity disease such as Prader-Willi or Leptin Receptor deficiency. 

When I was diagnosed I was so young that I honestly didn't understand what was wrong and to be honest didn't truly understand it up until this year when I actually started to look deeply into my condition; there was very little support around at that time as doctors knew less about it then than they do now, so hopefully what I'm writing now will eventually get to someone diagnosed with a genetic obesity condition and help them.

Image from Google

Getting a Diagnosis

Right, first of all I would like to talk about actually getting your diagnosis, when you first suspect something may be wrong genetically in terms of obesity, probably from recognising signs and symptoms (find a small list of them here INSERT PREV BLOG POST) you should speak to your GP about your concerns about your health. There is a good possibility that you'll be met with doubt and scrutiny from many doctors you speak to, particularly primary care doctors such as GPs as there is a huge stigma attached to obesity. One idea particularly is that obese people are unlikely to take responsibility for their own health problems, this is an incredibly ridiculous idea as although there may be some people who prefer to blame others' for their weight, there are also people who can take responsibility for their health and others who have no responsibility to take as it is no fault of their own. One way that you can help yourself here is by printing off a list of symptoms and signs that you are experiencing and take that to your GPs surgery, book a double appointment with an actually doctor as this gives you more time to explain your circumstances. If you're struggling to get support from your doctor the first time, ask for a second opinion if you are convinced there is an underlying issue. 

If you are determined and have an understanding doctor, or one who likes to take interest in unusual conditions, you may be given referrals for genetic testing, these tests can be intensive and arduous and very frustrating at times, most of mine consisted of blood tests, ECGs, I actually had treadmill tests, some kind of sleep test where I had a space helmet like contraption over my head whilst I slept and many others. Often these tests can be frightening especially if you're a child and don't fully understand your situation, they can be emotionally fraught times during and waiting for test results but if you speak to the team dealing with the tests it should be possible to arrange some sort of counselling session, as least my hospital did that for me when I was scared. In times like these it's also important to keep a close network of good friends and family around so you can talk to them when you need. 

Coping with a Diagnosis

If you are unfortunate enough to be diagnosed with a genetic obesity disease then I truly feel for you, the first thing that you need to know is that you are absolutely not alone, as much as you may feel it at the beginning. You may be angry and try to blame whoever you can for this happening but honestly, don't. In situations like this absolutely nothing can be helped as much as it may hurt, one of the best things about being diagnosed at a time like this is that currently there are trials going on to test a particular drug to see if that can help, there is more knowledge and more doctors researching it then ever before and there are more people diagnosed. Personally, knowing what I do now about the condition I would recommend doing several things once you are diagnosed, these being:

• Learn - find out as much as you possible can about the condition you have, ask doctors, nurses and specialists what is involved with your condition, how does it affect people, learn about what foods are best for you, how you can exercise, how you can try to maintain your weight, learn as much as you possibly can about your condition as it will help in the future.
• Take Note - take notes on how your body is progressing, is there anything that can make you worse e.g. do you find it hard to say no? Little self-control? Often times pressure and convenience can lead you to eat badly, if your friend tried to twist your arm for fast food, you must find out what your triggers are, how you can stop yourself eating badly and take notes on how your body is developing. Are you gaining, losing or maintaining your weight? How are your usual body functions e.g. how is your hunger, how are your menstrual cycles? Learn about yourself. 
• Teach - it's essential that you teach the people around you exactly what going on with you the best you can, build up an informed and understanding support network around you as these people will be your biggest strength in your darkest of days. 
• Get Support - as I mentioned earlier there are now a number of organisations and nonprofit organisations that have been established in recent years that can give or can point you in the direction of support. Facebook groups, blogs such as this, NORD, EURODIS, Orphan Drug Act, Genetic Alliance, Global Genes and so many more organisations can help and support you. Other groups such as Facebook groups are often much more for emotional support and helping you get in touch with doctors. 
• Diet Changes - It's essential that you make some changes to your diet when you're diagnosed with a genetic obesity disease, especially if you've not had a great diet up until this point. Again, it's all in the learning, get yourself to a specialist dietician, preferably referred from your specialist doctor rather than a GP as GPs and your "average" doctors do not tend to read notes and it can make you feel as if you're banging your head against a brick wall. It'll take time but try and find a diet that includes all or a lot of the vitamins and nutrients your body needs while getting in the foods you love, get support from family and friends, do not let them push you into something you know is not good for you. Make better decisions when going out for food and try to be aware of your exercise as well as this can help a lot in making you feel better in yourself and in *some circumstances can help maintain weight. 

That ladies and gents is all of the information that I can give you from my little noggin. I really hope I've been able to help but the one piece of advice I can give you is this: give yourself a break, none of this is your fault and know you have a diagnosis and the knowledge of what exactly is going on in your body you can try to make some good changes and Rome wasn't built in a day remember. 

Thank you all for reading. Have a fab day! 

xo.

Signs and Indicators - The POMC Series

Hi all,

Image from google.com

I'm so glad you've come back to read the blog again, today is something very important however it will have to be relatively short for a few reasons. I'll be discussing any signs, "usual indicators" and typical attributes that those with POMC can display which may lead to one feeling that testing may be necessary. I absolutely must stress that the information for this post comes from professionals I have been speaking to within the last 2 weeks and a number of reliable websites including the Genetics Home Reference website; some aspects of the information will come from experience and this is not necessarily specific to POMC but some parts are! This is because many other genetic obesity conditions such as Prader-Willi Syndrome, LEPR and such can be very similar to POMC, therefore the few signs and indicators I will discuss today will act as a guide to inform you in case you think something may be awry in your own body. It's also important to note that because there is still very little information on POMC and some other rare genetic obesity disorders the information I can give is scarce, however I will do my best!

One we go!

Early Onset Obesity - This is the most common and most indicative sign there there may be an underlying issue in a child's weight, often many parents find themselves under scrutiny from doctors, social workers, teachers and other professionals who tell them that they are most likely doing something wrong. However, if a child or adult had a good diet and manages to keep up with an exercise regimen and still continues to gain weight, this may be a sign that something could be wrong, but do not simply ask for genetic testing on the basis of this one sign. 

Excessive Hunger - Excessive hunger or hyperphagia is another sign of POMC and other  genetic obesity conditions, often with people the hunger can be unrelenting and can impact daily life as *some people have reported thinking of and desiring food for significant port of the day. This is not necessarily psychosomatic and people with genetic obesity genuinely do feel hungry a lot of the time, if the excessive hungry you're feeling is genuine hunger then again it may be worth discussing with a professional or GP. 
Excessive Eating - For obvious reasons this is a common sign of POMC and other conditions, due to the excessive hunger people with genetic obesity disorders often need to be watched or monitored very closely so that they do not overeat, this is usually the case in children mores than adults as children often do not have a sense of restraint and would continue to eat until their hunger has been satisfied, this again leads to weight gain. If you or your child cannot control your hunger or eating habits it may be time to speak to your GP. 

Low levels of ACHT - People with POMC in some circumstances, not all, can display low levels of Adrenocorticotrophic hormone which can lead to adrenal insufficiency, this according to GHR website can often cause periods of severely low blood sugar levels causing seizures, increased toxic substance called bilirubin and a reduced ability to produce the digestive fluid called bile.  This means that the body doesn't make cortisol and aldosterone which are two hormones that help regulate the body in particular ways. It can also lead to insulin resistance in *some cases, regulation of proteins, carbohydrates and fats will be off, blood pressure and cardiovascular function will be faulty as will the body's responses to inflammation. 
Metabolism 'imbalance' - For those with POMC the metabolism is affected differently, if you find yourself eating the same things as your friends and still gaining weight that may be because with people who have POMC retain all of the energy from food which means this energy, because the energy is being stored as a 'safety net' to prevent the body from starving this means the body will gain weight much quicker as the body doesn't necessarily need this extra energy. Metabolism is an extremely important factor in this condition and is one of the main reasons weight gain is so severe and quick, our metabolisms are not the same as the average person and do not work as well. 
Lack of Development in Puberty - During puberty often girls with POMC or other genetic obesity diseases do not develop as they should, they may not ovulate or, in several cases, do not get periods whatsoever, this usually requires some kind of hormone replacement or substitute to give a withdrawal bleed, this is essential to get some kind of support or substitute for periods as doctors, as fat as I am aware, so not know if POMC leads to the increased risk of weight related diseases such as cancer, diabetes and heart disease. However, those who do not have periods can still get a build up of endometrium which if it is not shed can lead to endometrium cancer in some cases. These issues can also lead to individuals not being able or having extreme difficulty conceiving.
Weak or Brittle Bones - Often people with POMC suffer from bones that are brittle, weak or easily breakable, this can lead to fractures and broken bones , some of which cannot heal easily as well as the increased risk of infection in bones, pain and a higher risk of repeat fractures. If this is the case with you it is important that you note this to your doctor upon discussion. 

Red hair and Pale Skin - From what I have gathered there is a great deal of diversity with POMC patients depending on what "variant", for want of a better description, a person may have. In my post entitled What is POMC? I outlined what the condition is and how it can affect different melanocortin receptors, I mentioned that if the MC1R receptor is affected this will impact the colour of hair and skin, if this is impacted in an individual with POMC they have a tendency to have red hair and pale skin, sometimes green eyes can be associated with POMC but not a great deal of evidence or research (from what I am aware or can find out) has been put into eye colour and POMC. This is not the same in all cases though, I must note. Link to my previous post is here!
Sometimes people can often sense when there is something wrong with their body, if you are showing these signs or a majority of these signs it will be worth talking to a doctor about your concerns, it may end  up that you ave a more common condition or one just as rare, either way its very important that you do discuss your health concerns with a doctor as you could get some real help and support that you need. The condition had no rule book so if you're still convinced you may need genetic testing be prepared to be met with barriers to those tests from many doctors. 
Once again I must stress that the information I have used throughout this post has come from a number of websites and professionals I have spoken to in the last fortnight who have discussed the signs with me. If any information is wrong or inaccurate please message me and I will correct it with any evidence that you show me. 
Websites I have used include Genetics Home Reference, GARD, NCBI and Orphanet.
Thank you once again for reading and have a wonderful day! 
xo.

Keep Fighting - The POMC Series

Hey again,

Hope everybody is well, this next post will be a short one as I'm lacking in energy today but definitely have a couple of posts coming up that you should find interesting.

I wasn't going to post today as me and the family went out for the day but I've decided that if qany day is a good day to demonstrate the reality of how POMC can affect people it's today.

Beautiful Whitby Town - North Yorkshire

Today was a really bad day, to be honest. I woke up feeling pretty good, well rested and such and I knew me and the family were heading off to Whitby for the day, one of my most adored places I've ever been to, and I was visibly excited. After a cup of tea I went to get s cold shower because I could feel myself beginning to overheat, despite windy and pretty cloudy weather, my body temperature kept going up and I was just sweating more and more so I took 5 minutes, tried to keep myself hydrated as much as possible and got myself dressed quite quickly. 

Me and Simon got into the car and went to Subway for our lunches, we decided to go there as I'm not keen on just grabbing whatever I can wherever I can, I've learned that food is best planned well in advance so I know what I'm putting into my body compared to the energy I'll be using up, I just feel it's the most sensible decision for me. Other people are different though. Anyway as I was driving I honestly felt like my body was slowly turning to lead, as if I weighed twice what I do now but I pushed it to the back of my mind and hoped I was going to get a good day out of today. 

Nanna and Granda, who we went with, eventually got home and I packed a bag with inhalers, water, phones and everything else we would need and headed off. While I was in the car I could feel my legs turning numb, my granddad's car is very low to the ground compared to mine and I find it extremely difficult to get out of, the seat belts also don't fit around me without an extender so it's not the best car to travel in. Anyway  like I mentioned I felt the numbness creep up my legs and a dull ache hit my lower back which was there all the way to Whitby, along with the overheating feeling which was exacerbated with the weather turning sunny and hotter the closer we got to the coast. By the time we got to Whitby there were no parking spaces so me and Simon tried to get out to walk on ahead; I don't think I managed getting 12 metres before I was sweating in pain with my back and my knees started to ache. I've always been self-conscious of looking like the stereotypes version of an obese person, someone who is so large they cannot walk properly, mainly because when I've tried to explain that I'm not simply over-eating the wrong things without exercising and have a genuine medical condition I am met with looks of disbelief and dubious scrutiny. At this point I walked a little further and had to stop where my anxiety got the best of me as I was convinced everyone was looking at me. I broke down and cried on Simon, insisting I go home and we go for a walk privately around our local area later today when I feel better. So, not only did I not get the day at Whitby we all wanted but I feel I've held back my family and boyfriend, something I'm not unused to feeling. 

Somehow though me and Simon are still determined to do that walk, determined that pain won't stop me from cooking family dinner later and it will not stop me being a happy person overall. The point of this post was not to complain or whine or make people feel sorry for those of us with such problems, it was to remind parents of children with POMC or any genetic obesity disease and those directly dealing with POMC/genetic obesity themselves that no matter how hard the days might seem, how much you want to give up fighting or feel hopeless always remember that the condition you have is there to be fought and we are all warriors in this battle, nobody is alone with a strong support network around them of family, friends, partners and even medical professionals who help you cope. You are a strong person with better things to do and live for, than to give in to anything at all! Even if is is easier said than done at times, please keep fighting! 

Thanks for reading. xo

My Story - Adolescence to Adulthood - The POMC Series

Hello again lovelies!

This is the second instalment of my story, recounting my journey from birth to present while living with POMC. I must give a warning for this post as it will contain slightly more specific information on my development through my teenage years and so and information is, once again very sensitive and personal; however, please feel free to continue to share and like these posts as every little helps!

My first day at comp - 11 years old

I ended the last post by claiming that at the beginning of adolescence was where the real battle began, hopefully you'll understand why. After finishing primary school the next big thing was on to comprehensive and I can honestly say that was the worst time of my life, no exaggeration. By 11 years old I fully understood what I was expecting to happen to my body in the process of "becoming a woman" if you catch my drift, all of the usual things happened I gained more weight as I aged, my body changed shape so I got more of a feminine figure and I started to hold my weight differently. I mainly help my weight in my lower stomach, things and face which did absolutely nothing to help the curve in my spine, that got so bad that even to this day I cannot walk 6 metres without feeling the numbness and pain creep up my calf, thigh and up to my hip and lower back. Honestly, the pain is agonising, I get sweaty, sickly and dizzy with how much it hurts. All of this at 11 years old, although Ive admittedly gotten better with dealing with it, it hurts nonetheless. Yet, somehow at 11 I had reached a massive 16.5 stones in weight, my blood pressure, sugar and cholesterol had all stayed on a level of someone who weighed around 7 stone; at least I had that. 

My 13th birthday

The bullying continued into secondary school, I couldn't walk through the corridors without having some form of abuse shouted at me, some nasty remark. Comments like "You should go and kill yourself" and "you're so ugly you should've been aborted" were regular occurrences, almost daily to be honest. I never got anymore beatings but I feel like a beating a day would have damaged me less than the cruel comments I got did.

By my 13th birthday I'd contemplated suicide and self harm on a number of occasions, never believing I would do anything, only wishing I had. I was put on anti-depressants at 14, I never ever left the house, and to show how serious it had become I developed a sensitivity to the sun that is now so severe I cannot be out in the sun for more than one minute without blistering, literally. All because I couldn't bare getting abuse thrown at me as soon as I left the door. I dropped countless days at school, didn't do anywhere as well as I could've done, teachers allowed me to leave the classroom 5 minutes before bell went so I could get to my next class without  getting abuse, I was allowed a toilet pass to leave whenever I needed to as by this point I had developed severe anxiety as well. But I had managed to find an outlet in playing the piano, clarinet and singing lessons. 

From ages 13-17 (the picture to the right is me at 16, almost 17) my weight gain did continue but at a much slower rate, despite that being the most inactive time of my life, like I said I didn't go out at all, probably ate worse than I should have as I simply didn't care about myself by that point. Everything developed as usual expect one aspect of my body. I hadn't developed certain aspects of puberty, menstrual cycles being one of them, at 15 I was put on Medroxyprogesterone so as to induce them. That's been going pretty well ever since no changes there really. I did however get diagnosed in January 2014 with Polycystic Ovary Syndrome via a routine blood test, and an ovarian cyst indicative of Endometreosis in 2015 as I was rushed into hospital with severe lower abdominal pain in late April 2015. Doctors have told me this cyst can be removed but nobody is willing to operate on a woman of my BMI, I get me with a resounding "lose weight first" even after explaining my situation. Sometimes it seems impossible to get professionals to listen to you no matter how much you tell them. Recently, I have discussed my Gyno concerns with a professional who specialises in POMC and I was told that they are not aware whether or not POMC can cause such problems and have advised I continue to keep an eye on it. If any female with POMC does read this I would advise going to see a specialist about the issues right away. Keep it under control as soon as you see it. 

After finishing school/sixth form in 2014 and beginning a course at New College Durham, who may I say were reluctant to believe my condition was real, despite being registered disabled because of it, bullying had died down significantly in a more mature environment although had not fully been resolved. By 18 ears old my hunger had not lessened but my diet and exercise regimen was improving massively, I was forcing myself not to give in to my hunger, some days were terrible others not so bad. I would usually keep myself busy and whenever I felt hungry remind myself of how disgusting I was... clearly my mental health and self-esteem.image was not on the up at all, I still never left the house or went anywhere really. Not much else can be said for my 18th year. I just plodded on. 

By 19 years old I had started to seek help for my body image, using a number of self-help leaflets, talking more to friends and family, being open with lecturers and teachers about what I needed and gradually my opinions on myself improved, I did really well in college and managed to secure a place at the University of Sunderland studying social work, which as it turned out I wasn't suited to, and changed to Sociology. All the while this is going on I was in a relationship with the most wonderful man I could've ever wished for, he has dealt with a lot and will hopefully be posting about being in a relationship with someone who has POMC sometime in the future. 

Very dark! Me and the best friend on my first night out earlier this year :)

I am now a 21 year old woman, my self-esteem has never been better, I'm engaged to the man I love, I'm getting out and doing things and I have a life that 13 year old me never dreamed I could while having this condition. However, in recent months, this past year, I've noticed my weight has increased more than it should have, in the last 5-8 months I've gained 5 stone while maintaining an exercise regime, I have developed a condition where my knees have turned in opposite outwards directions of one another (pigeon toes) and my spinal curve is stopping me sleeping as it's impossible to find a sleeping position. I have also developed sleep apnoea, a condition where I can stop breathing at any point throughout the night because my throat can close and there is significant pressure on my chest, something that people with POMC must look out for, I had also developed an overactive hypothalamus, meaning my internal thermostat has stopped working properly and I have a tendency to dehydrate extremely quickly and overheat. I am also now double the weight I was when I was 16, terrified of dying young because of this awful incurable and untreatable (as of yet) disease, all support and help goes towards stopping young children with this feeling so scared, maybe there will be a treatment soon enough! 

POMC is, as I have been told by professionals specialising in this area, supposed to lessen with age  in their exeperience, the weight gain in their experience has in some circumstances evened out as has eating habits in some, I am living proof that this disease does not play by the rule book. Bear in mind also that I am one of the lucky ones, there are people out there much worse off that I am, those are the people that need this support and awareness most of all! 
Please if anybody had any questions, comments or so on, do not hesitate to contact me. I'm available all the time so if you want to share your story of living with POMC or a genetic obesity disease get in touch and I'll be more than happy to help! 

Have a great day all! 
xx

My Story - Infancy to Late Childhood - The POMC Series

Hi All!

I hope everybody is well and I'm so pleased people are continuing to come to read the blog, the support has been awesome, thanks guys! Today's post in The POMC Series is very very personal and sensitive to me and will outline my life from birth to diagnosis, development with POMC in terms of the medical side of things to give people a better idea of how somebody with POMC can develop and survive. Let's begin.

I was born on December 14th 1995 in the early afternoon, from what my mother has told me  her pregnancy was good and there was nothing to make her think anything would be wrong, in fact she once describes being pregnant as "the healthiest time of [her] life". My birth was pretty normal and everybody was happy to have a bouncing baby lodging with them now, I was quite average for the first few weeks of life until at 9 weeks old my mother took me to the local GP surgery explain she felt I was gaining weight too quickly as I'd reached 16oz. She was told she was being an overly anxious young mother and my weight would level out, so she went home and thought she would keep and eye on me. 

Me at 9 months with my amazing Nanna

By 1 year old I had hit all of the appropriate milestones by that point, I was walking at 9 months, but I did not like to be touched and didn't cope well with certain noises like the grass cutter,  I was extremely picky about how I would play with my toys and being removed from my routine would upset me hugely. This lead my parents and grandparents to take me for an assessment, which lead on to an Autism diagnosis. However, those diagnosed with POMC have a tendency to have sensory issues, a sensitivity to certain noises and textures, not only textures of food. In my case I couldn't be touched or eat foods such as crunch veg/fruit or bread because the texture doesn't agree with me. 

I eventually went to nursery at 3 years old and the image to the right shows how much weight I had gained, which is clearly more than the average child. I was, at that point, not under the care of any doctor and had not received a diagnosis, doctors repeatedly told my mother she was overfeeding me but didn't look any further into it than that (although I was cute! I mean come on, say 'no' to that face!). When I went to my local nursery issues started arising, each year I remember being forced into a classroom and being told to take off my shoes so I could be weighed for a health check up, along with all the other children, being nearly 4 years old now I can remember this and it was unpleasant to say the least, I remember hearing what a man was saying to the teachers as I got off the scales "This girl is far too fat, phone her mother", so my mother was called and raised holy hell with them, she thought the situation was a barbaric as I did, my whole family at this point was convinced something was wrong but again, doctors simply told my Mam to get me moving more and feed me less. Thing is, I was always dancing, running and playing around, I thought I was "normal" until I went to nursery, but bullying, which I will get to in less retail later and more detail in another post, absolutely crushed my idea that I was average as did this traumatic experience with the scales. 

Me at 4 - close to my diagnosis

At 4 years old I was changing my personality, I stayed away from people at nursery more and went outside a little less, mainly playing in my back garden because I realised people were looking at me because I was fat, still it didn't stop me being happy. One day I took poorly and was taken into Durham hospital Treetops ward for children, I had had a number of tests done one of which being blood. A doctor who later became my regular paediatrician at the RVI told my mother something in my bloods was missing, he then told her to take me to the RVI immediately, this was obviously a distressing time for my family not knowing what was going on. It was at the RVI after numerous, extensive tests and genetic analysis, nights spent in the RVI, days of nursery and school, that Mam was finally told I had POMC deficiency. I don't know if I was told right away but I do remember being told that I "wasn't like everybody else" by family and thinking "Mammy and Nanna are crying so I have to be brave" but after being told in as much detail as you can tell a 4/5 year old, sitting behind our armchair and crying silently. 

After my diagnosis I was regularly at the RVI in Newcastle where I got fab treatment from the Doctors and nurses who even let me paint up a wall for Christmas, which was so so fun! The focus for doctors at this point was keeping my weight maintained as they knew very little about the POMC in 1999, so with regular hospital appointments and check up it got to the point where I was told I needed to go to Cambridge Addenbrooke hospital to meet the chief doctor, as I called her, who studied this disease. I stayed two nights in Cambridge hospital where I was tested every 5 minutes for blood pressure both pre and post exercise, I was given blood test after blood test, an ECG and many more tests. At the end of the experience I was told that after all of that the doctors were surprised to find that everything was in full working order, my blood pressure was perfect, resting and exercising heart rate was extremely good, blood sugar was completely normal, as was cholesterol. Basically, the only thing wrong was POMC affecting my weight gain, thankfully I was healthy. I was 6 years old when I had my first Cambridge visit. 

When I started normal school at age 4, as mentioned previously bullying did become a problem, a major problem. The older I became the more weight I gained and to be brutal it was a free for all among the students with me. I was taunted day in and day out at school, nobody would play with me, I honestly did go through primary school without one true friend, mainly I was excluded to the point where on a break and dinner time I would push myself into a corner of the playground and read and read and read until the bell went. My school was particularly unhelpful and unsupportive as at one point in my school life teachers would berate me for having time off of school, some days my legs would hurt so much because of the rapid weight gain, I couldn't walk properly and didn't feel up to school at all, some days I just didn't go because at 6 years old I couldn't take the bullying anymore. There was one day I was in school at 6 where a group of boys came up to me and just started beating me because of how I looked; a fighter to the last I kept telling them I would win but they didn't stop until a teacher called them as they didn't know where they were. Safe to say my Mam and Nanna went up to their parents house and I didn't get that badly beaten ever again. 

For all of the parents of children with POMC do not EVER let any school, establishment,  adult, or child take advantage of a child the way my school was allowed to, one teacher would come over to my lunch table every day, as I took in packed lunch because I was picky with eating certain foods and textures, and she looked into my lunch box everyday she saw me to tell me what I was eating was disgusting and would make me fatter. Right here on this blog is the first time I  have ever disclosed that information. From that point on I have never been able to comfortably eat in front of anybody. 

Me at 8 years old, drawing away my troubles.

At 8 years old I was well into my primary education now and I was learning quickly that there were certain things I couldn't do, because of my weight I had developed exercise enduced asthma, I wasn't able to participate in P.E., I wasn't able to always go out with neighbouring children to play games due to pressure on my knees, back and legs, I had developed a curvature of the spine and a condition called Lordosis, walking became more difficult and the spinal curve made and still does make my legs go numb when walking for more than 10 minutes at a time. I was, although I didn't know it at that point, becoming depressed and more and more isolated so I found my pleasures in reading and drawing as you can see to your left.  

My regular hospital appointments continued, as did a steady weight gain, excessive hunger and the crowd of people at school, in the GP surgery and outside of the house, who would berate my weight, tell me to get more active and eat less. My family tried feeding me different things, less calories, watching me at all times with food, but they had no idea that the less they gave me to eat the more starving I became. It was when I started secondary school however that the real battle would begin...

Thank you all for reading this post, I apologise for the length of it, I hope this will help some of you understand how difficult it can be for children with POMC. In my next post I will move on to my journey from adolescence to adulthood, you can expect that out at some point tomorrow. 

Thank you all. XO

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!