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.
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.
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.
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.
No comments:
Post a Comment