Your Views

So firstly thank you to those who have had a look at the blog.
Secondly thank you for pointing out the spelling. I might add that this is my online diary and not a piece of prize winning literature. I do not spell check, I think, I type, I post. My writing style is very much the way in which I speak... sometimes backwards!

So I have been thinking away about different posts and have come up with the following;

1. MCAD and the body
2. MCAD and stress
3. MCAD a mothers perspective
4. MCAD and alcohol
5. MCAD and pregnancy
6. MCAD and food
7. MCAD and illness
8. MCAD and publicity
9. MCAD and other people
10. MCAD and exercise

This is what I have come up with so far but if anyone has any ideas or areas they would like to know about please leave a comment and I will write a post.

I was speaking with my mum today who often looks online to see what new information is available with regards to MCAD. 
'I can't believe there is still so little out there, it was only discovered in 1983 we were lucky'
Mum I know.......hence the reason I decided to start my own blog and keep a publicly accessible diary of my thoughts, feelings and living with this condition.

Let's clear one thing up at the start of this venture, people with MCAD are not 'suffering with MCAD'. We are not victims. We were simply dealt a different hand of cards to play. Unfortunately there is no rule book and we play 'off the cuff' but give us our dignity and do not call us 'sufferers'.
You would not refer to someone with dwarfism 'a sufferer' nor would you call a person in a wheel chair 'a sufferer' . So do not label us.

I believe that there is a reason for everything. I would not re-write the rules to be born any differently from what I am. I have experienced a whole lot more in my life at 27 than most. If anything having MCAD will make you stronger as a person.You learn to take control of your life, you learn the value of life and you learn to fight. Not literally of course. Having a condition such as MCAD, which is still unknown, means you have to stand on your own two feet and shout to be heard. You can not be submissive or you will not survive.

As someone with MCAD I ask that you recognise us, support us and help to increase research.

Once again I have gone off on a tangent but you get the idea!

So what is MCAD?

So It would make sense to explain what MCAD is for those who may stumble across this blog by accident. I presumme most have typed MCAD into google, as I have done so many times hoping something new will pop up!

Medium-chain acyl-CoA dehydrogenase deficiency, more commonly known as MCAD deficiency is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting, vomiting or illness. Prior to further screening of newborns, MCADD was an under diagnosed cause of sudden death in infants. Individuals who have been identified prior to the onset of symptoms have an excellent prognosis.

Basically, an individual with MCAD cannot produce their own energy which is why they need to keep on top of the food thing. Stress on the body or mind can cause the body to use up its energy supply quickly this is when those with MCAD get into trouble. It is different for each individual. Some individuals have a decent level of Carnitine to help the breakdown of fatty acids some of us (aren't I lucky) have practically nothing.


MCAD is an inherited deficiency and typically most prevalent in individuals of Northern European Caucasian descent.

There is no treatment or cure (despite what an ex 'religious' friend of mine told me. Emphasis on EX. God cannot alter my DNA). Avoid fasting and keep up the blood glucose particularly in stressful situations such as exercise and illness....sounds simple. I wish!

Some Doctors recommend treatment with L-Carntine, I found this did not help. The incorrect dosage can make you smell like a fish. I was asked to trial this for my Doctors but had to pay for it. Thank you NHS, I did not know Guinea Pigs paid! Not only did I have to pay for a drug that THEY wanted to test but each time I went to the pharmacy it was a nightmare. The pharmacist would ask what it was, I would explain, of course they had never heard of MCAD. Then they would ask their colleagues, then they would get their books out, then call the Consultant.....and on and on and on. A month later it would arrive. With each repeat prescription the fun would start again.

 From my own research I have found that foods containing mono -triglycerides should be avoided. These fats will sit on the liver. Having cut these foods out myself it has made a huge difference to my well being. Foods containing this fat are; all dairy products (cow, buffalo, goat and anything else you want to milk), palm products, coconut and anything made with or cooked in lard.

 I must stress I am no Doctor however this condition was unheard of when I was diagnosed. I have gained understanding about it at the same rate as the professionals. They may have labs and computers with a higher IQ than myself but nothing beats first hand experience or a human test subject. Me.

The best treatment is look after yourself, keep some glucose tablets on you and wear a medic alert tag if you are out and about. If you are in hospital, even if it is something routine, do not expect any of the medical staff to know what it is and demand they contact YOUR Consultant. Do not take NO for an answer. BELIEVE ME.

Tiredness

Big Yawn........

MCAD makes you tired. The inability to create ones own energy is a constant reminder that I am different.
10 hours sleep last night and I could probably have done with another 2hrs but the dog is not going to walk herself!

Coping with tiredness is much the same as any other person just multiply the need by 4! Whilst I was studying for my A-levels and then for my Degree afternoon naps were a life saver. Doctors recommend eating every 4 hours but I have a demanding job and a home to run. I am terrible at putting my own needs first.

However word of warning, do not push it. I do and its not a good idea. Your reserves fail, your limbs become like spaghetti and you slur your words (like a drunk).....shut down! Well this is how it manifests itself in me everyone has different warning signs. Not only do you need a massive glucose hit and some rest but you get a bolllocking from those around you 'why arent you looking after yourself properly?'. There is no reason, my answer 'I'm busy'.

If you ever feel like your sugar is dropping and you need a quick hit a pack of sweets, fruit pastilles are my favourite and 1L of Lucozade, it always works. Do not use chocolate, the fats will not breakdown you want the sugar. But I will go into more detail when I post MCAD and food. We are at war!

The extreme with regards to tiredness is what I have mentioned but there are other warning signs that you may not notice and those around you will.

When my sugar is low and my body needs rest I become very irritable... and that is the 'pre watershed' version. I am basically a nightmare and sometimes wonder how I have managed not to push everyone away. There is a lot to be said for people who love you and people with patience.Sometimes I will lose focus on the task in hand and become easily distracted, think 3yr old. Or sometimes I will just simply stare, resembling that of someone who is daydreaming. The difference being there are not thoughts at all running through my mind.

It takes many years to notice the signs and as I said previously, they will manifest themselves differently in each individual. the only thing you can do is make a note, literally or mentally to recognise them. By doing this the people are around you and most importantly YOU will know that something is not right.

So. Rest my fellow MCAD..ers. We need it more than most.

I decided to start my own blog about living with MCAD. There is very little available to people such as myself as the condition is still not universally recognised. All the information available is aimed at parents with babies or toddlers with MCAD....hello??? What about the rest of us??? It maybe rare but do not forget about those of us who have survived to adulthood! This maybe a good place for a concerned parent too.

So I guess some background would be the best place to start....
I was born with MCAD, diagnosed at about 2 years old. I am now 27 about to turn 28. My parents were in the British Army and we were stationed in Germany when I first fell ill. After travelling back and forth to different hospitals I was finally diagnosed at Great Ormond Street by a young German doctor.....We all laugh about it now!

Before reaching a diagnoses, my case was written off and a Priest bought in. Well, my mother maybe a passive person but you never provoke a lioness when her cubs are involved!!!! She fought for my life...Mum, I never say Thank you enough.

After a diagnoses was confirmed my parents were told that my life expectancy limited and that i would not survive infancy. Anyone who knows me will say I am stubborn and aim high. I am now 27 and planning my wedding. That's fingers up to all you who had predetermined my fate.

Growing up with MCAD can make you feel very alone. Regardless of having my own Consultant and Dietitian, being registered with Medic Alert, every time I have been at crisis these people have been 'unavailable'. I was once asked to trial a drug which side effects included 'a fish like odour' delightful!

Having to deal with things on my own and with the continued support of my mum and fiancee I continue to live as healthy a life as i could have hoped for.

I will join the age of technology and blog about how I deal with my condition day to day, when ill, etc. Hopefully this may helpa few others out there. I would also gladly give help to anyone needing it.