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.

Life Update and Worries - The POMC Series

Morning all!

Well, it's been an eventful few days and a very busy week! This post is going to be a quick update and a talk about a few worries I have at the moment. Me and Simon got back from York on Friday night and went to see out best friends Annie and Aidan before we went home,it was lovely to see them after a few days and catching up is always fab, Aidan and Simon are like a couple of kids laughing away at youtube videos they've been wanting to show each other over the last week; honestly, I love seeing Simon and my friends get on, makes me extra happy. 
Anyway, last time I posted an update I said I would be taking part in an interview with Sophie Dishman of University of Sunderland which I did Monday passed and honestly she was absolutely fantastic, such a professional and so kind, I'll be posting a link to the interview and talking a little more about that when I post later next week so please keep an eye out. After that myself and Simon, Annie and Aidan all went to Sunderland and Darlington to grab lunch and just relax together for a while, nothing special just a chilled out relaxed day. 

Flowers Simon bought me <3

On Wednesday me and Simon got to head down to York after a doctors appointment and it was SO hectic trying to get everything together it was really mad! We ended up forgetting our inhalers, both myself and Simon are Asthmatic so it was a bad move there but I just prayed that nothing would happen, however that's not our luck really... Anywho, we stayed in a B&B called The Willows near York and just passed Harrogate and oh my it was so lovely! The proprietor was so kind and welcoming and totally understanding about my dietary needs, he was accommodating and an all-round great man, the room we stayed in was lovely, very private and comfortable with beautiful views to his fishing pond. 

On the first night we decided we would get tea somewhere and decided on a Chinese restaurant called Sweet Basil, the staff were lovely but (and here comes the usual unexpected medical problem) Simon ordered chicken chow mien which didn't include any information on what it contained just how much the dish would be so Simon thought he would be fine, he is severely allergic to nuts and somehow there must have been traces of nuts in the food as he swelled up like a balloon and couldn't breathe so we had to get him to York hospital really quickly, he was given a strong inhaler and steroids and was thankfully alright after a few hours. Still I was out of my mind panicking... no epipen no inhaler, no idea how to get to the hospital and my husband-to-be haven an allergic reaction in the passenger seat! God that was scary. 

Lunch and cocktails!

After the ordeal of the night before we decided would go into York and headed straight for The Shambles and The Shop That Must Not Be Named, a Harry Potter themed shop full of awesome stuff, I managed to get friends and family some gifts like notebooks, fudge, decorative lights, drink flasks and stuff so everyone was catered for thankfully. We headed into other shops and had a general look around which was lovely to be in an area other than Durham or Newcastle; we started to get hungry after a few hours of shopping, albeit it took me around 3 hours to walk round the shambles as I needed frequent breaks. Simon found a restaurant called divine which looked as though it had food that both of us could eat which i was grateful for considering I'm not sure Chinese was the best idea for the night before. We got pasta and risotto which was very nice and filling and Simon bought us a few cocktails to be going on with. It's important to note that earlier in the week I had been discussing the possibility of getting on to a Setmelanotide trial for a drug that aims to treat those with genetic obesity diseases, up until this point I had not been eligible and was waiting for more information via phone call that day from my main Doctor in Cambridge. So, obviously I was quite stressed and the few cocktails I had definitely helped, and they were yummy. 

Stunning Cathederal

Anyway I was meant to get the call from Dr Farooqi at 12:30 but she had been called into a meeting and I didn't receive it until 4pm, the same time we were due to be going to an escape room. I found out from my doctor that drug companies are refusing the trial for those with one genetic fault as it is deemed more helpful for those with 2 genetic defaults, however she did discuss with me the possibility of another "treatment" called Liraglutide, a regular injection into the fatty part of the stomach or thigh. Only issue is this drug causes Thyroid cancer in animals, pancreatic cancer, pancreatitis and a whole host of other problems in people... so now I'm panicking and hopping to get more information out of my RVI doctors as soon as possible, I want a treatment and my doctor says I need one as soon as possible but at what cost? Is getting an immediate treatment worth possibly risking my life? I have no idea but I'm scared and confused at the moment and will be writing another post about Liraglutide as soon as i know more info. 

After the call we ended up in Gr8 Escape York and it was amazing!!! We had lots of clues to figure out and had to escape to room to get our spy school diploma, unfortunately we are both bad at maths and the people monitoring us actually gave us the answers to a few clues haha! Still, we failed but honestly, it's the best experience ever!! I loved it as did Simon and can't wait to take out friends there! 

The next day was home time but we thought we would go into York city centre again and do a few things we never got to, we managed to get into a few shops which we never had the day before, Travelling Man where I bought a book called 'My Lesbian Experience with Loneliness" (awesome book by the way!), a Model shop so Simon could get some trains and things, and we went into the York dungeons which was hilarious, scary and utterly fascinating all in one! Overall it was a fab trip and we have made some wonderful memories,  got a lot of things to think about and will definitely be returning. 

Other than our trip to York I have become involved with the Sunderland University SU Buddies Scheme and and extremely excited about that, I go back the week of the 25th and my amazing best friend has been accepted into uni for her dream course which I'm so proud and excited for. I really can't wait for university to start but in the meantime I'mm be blogging more, reading up on course material, chilling and just doing me! 

I hope you all have had some amazing days this week as well! Thank you for reading and keep sharing ladies and gents! 

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.