A Mothers Journey
A mother just like any other mother, I had a great career as a registered Nurse working full time for my local GP practice and I am wife to Adam, Mum to Jamie aged just 3 years old and expecting our second son any day now.
October 11th 2011 after a traumatic birth our gorgeous boy Liam arrived into the world weighing 6lb15oz by Cesarean section, I spent two days in hospital with Adam and Jamie visiting a lot with the rest of the family…. we were over the moon and a very proud family that was finally complete.
It was nice to be home and settling into a routine watching Jamie bond with Liam, it was the best feeling. Jamie introduced the family to Liam when they all came to visit over a three week period, which was lovely and having the extra pair of hands of family helping was a bonus. However it was tiring and routine was never going to plan so after three weeks it was nice to have some quiet time with Adam and some routine back with the boys.
The morning had come where Adam had to return to work after paternity leave, so me and the boys decided to have a pyjama day and watch some films.
We were having a lovely day but Adam came home early and dropped the bombshell that he had been made redundant, it was like our happy bubble had just been taken away and all I could think of was how would we cope financially particularly while i’m on maternity leave? I gave myself a talking to and took time to think about this…..why was I worried, Adam was a great estate agent and always being head hunted so I knew he will be in work in no time.
Today I decided as I feel a bit more human I would take Jamie to nursery and take Liam out in his new pram for the first time, it felt so good to be back in the car driving and Liam was all snug in his car seat sound asleep. Jamie ran into nursery shouting to all the staff about his new baby brother, and after we spent twenty minutes chatting me and Liam finally got to get out of the door to get back to the car to head up to the town centre. Liam fell back off to sleep in the car, so it was a very quiet ten minute car drive and I was very excited to park the car and get the new pram out, I managed to get Liam all cosy and we headed off to the shops and with my 30th birthday only two weeks away it was a great idea to start preparing.
Two shops down and I began to feel strange, cold, clammy, nauseous, and pain all over, I just wanted to get home safe as by now I felt like I was going to pass out and with Liam so tiny I couldn’t let this happen. I sat on a bench just outside the Supermarket which was right near where I had parked the car but I began to feel stiff like my muscles wouldn’t move and I just knew I needed to get home, I managed to get Liam back into his car seat and I put the pram in the boot and got into the front seat where I then phoned Adam to explain what was going on. Adam told me to get home and he would collect Jamie.
Once home I settled Liam into his moses basket next to my bed and I went to the toilet to be horrified with what I saw, very dark tea bag stained looking urine I decided to get into bed next to Liam til Adam was back from getting Jamie and I called the Doctor for a home visit.…..The doctor said I had a urine infection and a virus so I just need to rest.
Two weeks went by and I had spent most of this time in bed while Adam was caring for the boys as well as myself, but even after two weeks I just didn’t feel myself. My head was telling my legs to move but my legs just wouldn’t respond like they used to. It was worrying myself and Adam so we booked me in to see the doctor.
Following my consultation with the nurse practitioner she could see there was some weakness to my legs, she requested I have some routine bloods taken which Adam took me for straight away. The results came back and the Doctor was concerned as my liver function was showing abnormal yet I was not a heavy drinker just the occasional couple of glasses of wine on the weekend. The doctor decided to investigate further with another blood test that relates to the liver known as a muscle enzyme test called Createnine Kianase.
Within a few hours of being home resting I had the call to say my results were back and my muscle enzyme test known as CK (Createnine Kianase) was 3,000 this was very high and abnormal. This kind of result means that muscle breakdown is occurring and I was asked to go into hospital for some fluids, where I had to stay for the day. I had a lovely consultant who was very concerned and felt this was not just a virus and more investigations were needed, but after the fluids I did feel a little better.
Adam was now back in work with an estate agency and we were two days from my 30th birthday and I needed to go to the shops to get things organised as well as Christmas shopping so I dropped Jamie off to nursery and I took Liam to the town, but unfortunately it was like dejavu all over again and I just couldn’t believe this was happening to me again.
The same symptoms started appearing and I was now in a stage of panic as I knew something serious was going on with me and my body, I just wanted to get home quick so I did the same thing got in the car but this time I had to collect Jamie as Adam was at work. Once we were home I got us all into bed and put a film on, and thats where we stayed until Adam got home. The only positive at this stage was I was due back to the hospital in the morning as I was on daily blood test checks.
At the hospital I explained how I was feeling and what happened the day before so more bloods were taken but this time the results came back higher than the last result, the consultant was concerned and said he felt there was a muscle condition going on so an Intravenous drip was set up via a cannula and I spent six hours in hospital. The doctor wanted to keep me in but I explained it was my 30th birthday the next day and I have a young family at home, so I was allowed to go home with the agreement that I return daily for blood tests
‘Happy Birthday Mummy!’ this little voice came running in…. I can always rely on Jamie to make things better with his kind ways. I managed to open a few presents and cards one being a holiday to Centre Parcs, before we had to go to the hospital. Adam decided to stay at home so he could get the house ready for the family coming to celebrate my birthday and Jamie was so excited, I agreed this plan would be better and made my way to the hospital.
It was now 2pm and I was clock watching as I had been here since 10am, this really wasn’t the way I wanted to spend my 30th birthday. I could hear the doctors and nurses around the nursing station talking about me…. here they come four men in suits lucky me (giggling to myself)
“Mrs Holtby” “Yes” I said “I am one of the consultants for Rhuamtology, its nice to meet you” and as he was introducing the rest of the team he began to say that looking into my history we feel you may have ‘MS’ (Multiple Sclerosis).
I couldn’t speak I could just hear those words going over and over in my head and thinking its my birthday everyone is at mine waiting to celebrate, i’m on my own and I have MS how is this possible I only had a baby. Stop, stop, stop I had to stop and listen to the the man in the suit, who at this stage made a follow up appointment and the nurse took more bloods and sent me on my way. I was far to upset to call Adam yet I had several missed calls on my phone but I just got in the cab feeling numb with the words ‘MS’ going around in my head, the cab pulled up outside and I started walking up to the front door. The door swung open and the words from my brother ‘Happy birthday sis’ I burst into tears shouting “they think its MS”.
The room was silent for a split second and I was gathered to the living room to talk about what happened at the hospital but it was getting late and we all hadn’t eaten and no food was cooked due to today’s events, so we all decided to order a Chinese take away. We all had a good laugh while putting things into perspective and what ever we were going to be faced with we would get by.
December and Christmas not far away we were off to see the Rhumatologist again for the third visit this time, and the consultant felt this was not MS and could be a muscle disease. However to find out for sure I would need to see a specialist consultant with a background in muscle disease at a different hospital, but for the time being I was started on a low dose of steroids to help with the inflammation in the muscles. Christmas was near so I started some shopping online as I was to unwell to go out and within two weeks I had all the presents purchased and it was a big relief to have it all completed.
“Merry Christmas” our little boy Jamie was so excited running from room to room desperate to open his presents and to see if Santa had been…..We had a lovely day, Liam was more interested in sleeping ha,ha. Christmas came and went by and still no appointment from the specialist hospital, so I decided to chase and i finally got my appointment.
Adam managed to get the day off work today and my sister Georgina kindly offered to look after the boys so we could attend my hospital appointment. We arrived at the hospital where there were shops on the ground floor, it looked more like an airport. We managed to find the department I was booked in to see and I was down to have some kind of muscle test called an ‘EMG’ which stands for Electromyography, it was electrodes being placed into various areas on my body within the muscle which transmits tiny electrical currents. It felt strange but it wasn’t as bad as it sounds and the results showed some abnormalities but I had to wait for a further appointment with the metabolic team…. my life felt like a waiting game.
At home things went back to routine where Adam was working full time and I was at home most of the time feeling weak with anything strenuous making me very unwell with pain, nausea and stiffness. I wasn’t able to take Jamie to nursery anymore so we had to pull him out where he stayed at home with me, he was due to start full time school in September.
The nursery were so understanding and supportive that they offered to help with the pick up and drop off for three days a week, which was such a relief. On these days I rested as Liam was still waking for night feeds and I was on an increased dose of steroids daily.
The side effects were giving me nightmares, swelling to my body, weakness and shaking, which on top of the weakness from all the muscle pain I generally felt awful everyday.
An appointment has arrived for a muscle biopsy to be taken and to see the Metabolic team, we went over all my childhood and how I was poorly given the diagnosis back then as Reyesyndrome which they say left me with a condition called hypoglycemia (low blood glucose). In my teenage years I would skip meals and end up laying on the floor being sick, suffering leg pains and stiffness but the doctors used to tell my parents it was growing pains, which as a teenager you believe.
The Metabolic team found the information of my past very interesting and thats when we got told that this was a muscle disease that I am experiencing, and have been since my childhood although we wouldn’t know which one until I have a muscle biopsy done.
The strangest thing was to be told not to go home and google ‘muscle disease condition’, well what did I do? Just that. To my horror what came up was some very short life expectancy conditions, I soon pressed exit and never googled another thing.
Adam took the boys to Georgina so we could head off to the hospital again for the muscle biopsy and throughout the journey I was a bag of nerves, as I decided to have the procedure under a local anaesthetic so I could go home after.
When we arrived we were shown to a room it was very quiet, small and all I kept doing was clock watching….a terrible thing I did every time since all this began. “Gemma Holtby, do you want to come with me” I never got a chance to say anything and I followed her down the corridor, a huge part of panic hit me and I shouted “can my husband come in” I was expecting her to say no but she was so supportive and allowed Adam to come with us. Adam is not good with things like blood etc but he was a great support and held my hand.
I layed on the bed while the consultant and the nurse went through the procedure and consent form but all I could think of was this is really happening, as they started injecting the anaesthetic into my thigh, I squeezed Adam’s hand and the consultant was reassuring the whole time. I was thinking this really don’t seem as bad as I thought but then I felt this almighty pain to the point I almost lept off the bed, the consultant couldn’t understand why I felt so much pain once they hit the muscle. They put it down to the fact I had inflammation in the muscle at that time but I was thankful the procedure was over and the nurse applied a pressure dressing to stop the bleeding, and I asked if I could go home. I just wanted to get out of there to cry which they allowed me to go and as soon as I got outside I phoned my Dad and cried my eyes out.
My dad has always been good when iv’e been upset and needed him, this was another occasion where he said a few words and I was less emotional. Adam was amazing throughout this procedure and while trying to get me into the car he hugged me and said everything will be alright.
After arriving home and settling the boys to bed me and Adam decided that we needed a break away, and with the present that was on hold for centre parcs that Adam brought for my 30th back in November, we decided it was a good time to book it now.
We arrived at Centre Parcs for our first family holiday to a lovely lodge cabin, Jamie ran over to the patio window to be greeted by lots of ducks and a lovely lake to look at just outside. While Jamie and Liam was being entertained by the ducks at the window me and Adam decided to unpack our suitcase, which during this time I laid on the bed thinking how lovely this was to be away from home and all the hospital appointments….it was just a nice to have a bit of normality.
Jamie was full of excitement and we decided to eat out for dinner, along the walk it was amazing but it was a long walk so I used Liam’s pushchair as a walking aid due to my weakness in my legs. We stopped several times to rest but I wasn’t going to let it ruin my time away with my family, we saw lots of wildlife along the way and the lighting was just so peaceful.
We arrived at an Italian restaurant where we were showed to our table, inside there was a big play area for the children. Jamie was itching to get in there and the waiter brought Jamie’s dinner out first so he could go play, it gave me and Adam a chance to enjoy a meal together and Liam decided to sleep in his pushchair the whole time.
We spent an amazing four days at Centre Parcs enjoying the wildlife, fresh air, days out, eating good food and particularly the best parts were watching Jamie enjoy the bowling, the BBQ we had outside, Liam playing on the floor enjoying fresh air with the ducks in the distance and good quality family time.
Reality arrived when we got back to an appointment waiting on the door step. Adam did the unpacking, while I rested on the sofa with Jamie and Liam as the holiday had made me very weak and in some pain.
Jamie and Liam were dropped off to Georgina and we set off to the hospital chatting the whole drive about ‘what ifs’ but Adam was so up beat and positive. Sitting in the waiting room my stomach was doing somersaults but we were called in to the consultants room where there were eight people sitting in a semi circle staring at me, they introduced themselves from consultant, specialist nurse, dietitian and bio-chemistry.
‘Mrs Holtby” your results have revealed you have something called ‘Very Long Chain ACYL-COA Dehydrogenase Deficiency’ this felt like a blur of words and I only really listened to the first two words before I went blank with panic. I was thinking what does this mean what did they say? your probably thinking the same as me reading this.
Definition which can be found on the Genetics home page through google states VLCAD- Very Long Chain ACYL-COA Dehydrogenase Deficiency is a condition that prevents the body from converting fats to energy, particularly during periods without food (fasting)
It was a lot to take in at this time and the consultant explained what triggers can cause the muscle enzyme called Createnine Kianase to increase, it is things like trauma, exercise, fasting, illness and stress.
This explains why every time I went shopping it triggered all those symptoms I was experiencing, and back when I was younger skipping meals and the way I felt. I asked myself the questions… what has caused it? Will I return to my nurse career? This is all I wanted to know.
At this stage the consultant felt the trauma of Liam’s birth may of triggered this by the way it had presented, but why my body has no exercise tolerance is a mystery. Currently it was looking unlikely that I would return to my nursing career as each relapse had caused a lot of weakness from the enzyme breaking down the muscle, and with walking I was finding this very difficult without help.
The consultant mentioned a life style change is the only way for this type of condition and to start a tablet supplement called carnitine to take daily, as my muscle biopsy showed I had very little of this fibre. A supplement called MCT oil was started which helps break down the fat my body cant do and give me more energy, this was made up into a yoghurt or used to cook with.
A high carbohydrate and low fat food diet is key with this diagnosis and although this was a lot take in, I knew it wouldn’t be a quick change that can happen over night. This was going to take time and with the help of their Dietitian, so a review date was set for one month and I had to ween off the steroids as that was the wrong treatment for vlcad.
The specialist nurse was lovely and gave me her mobile number to call her anytime and to keep her up to date within that month of my progress.
We left the consulting room heartbroken as this was now a lifelong change for not just me but for Adam and our boys, to think I had this all my life but the birth of our son Liam had triggered it and to an extent all I could think of was will I ever get better or will this get worse?
When we arrived near home we went to Georgina’s to collect the boys and told her the news, she was devastated. We got home then called the family to break the news which shocked and upset everyone.
Where we lived was a two bed ground floor flat that was now building up with boxes of medication since starting on the supplementation and a powder form of medication called Polycal, which was used in emergencies when my body needs the extra energy. Every time I tried to do any kind of exercise tolerance I would end up in pain, nausea and stiffness in the muscle, and my urine would be dark tea bag coloured. This is known as Rhabdomylosis which is a metabolic crisis and the treatment for this is a hospital admission with intravenous glucose being administered to flush the system.
The past ten months of symptoms from beginning to diagnosis my body has had several metabolic crisis, where the createnine Kianase (CK) rises. Each time presenting with muscle breakdown taking place,which has left me with muscle damage and weakness. Each episode I have of muscle breakdown happening the more muscle damage and weakness I am left with.
September had arrived and Jamie was at full time school where I had to drive the school run each day which was very hard, just something so simple for a mum to do was becoming so tough. I started to experience the symptoms again of feeling sick, muscle pain and shaking whilst trying to get Liam out of the car each school run was upsetting me. I was lucky to have met another mum from the school, who could see I was struggling each day and was kind to help.
As the weeks went by I was finding everyday life extremely hard, I couldn’t get into the bath or even get myself out. Adam was amazing he helped me with everything, worked long hours and he took it all in his stride with our everyday struggles.
Unfortunately the time had come where me and Adam discussed moving to a more disabled friendly family home, as this would be better for my needs but the other part of me was thinking how would my body cope with the stress of moving? As this is a stressful event.
On the run up to our moving date Adam had to attend a course, as he had been offered a new job as a branch manager for an estate agency. I knew I couldn’t do the move alone, so Georgina came round every day to help pack up our flat in boxes while Adam packed every evening after work.
I woke up in a mad rush ….Jamie went to school, Adam went to his course, my Dad Terry Junior, Georgina, My grandfather Terry Senior, my best friend Laura and the removal men all helping with the move. I stayed at the flat with my grandad as I was to weak to do anything and I had Liam with me, together we organised what the removal men should take with each visit while my dad and Georgina was at the new house organising things from their end. The move took hours but in the process of the move we also had new carpet laid at the same time which people say I was mad to do but I knew it would be better in the long run than moving furniture again, it got to around 4pm and I began feeling the symptoms again all over my body.
The family were worrying about me but I just wanted to get the move done so I could get to bed and rest, in between all of this going on I was still bottle feeding Liam.
My Dad collected Jamie from school and Liam from me then took them back to the new house as it was getting late and I stayed at the flat until the last bit of furniture was completed. It was around 5:30pm that I got into my car and my Grandad told me to follow him so he could keep an eye on me getting to the new house safe
The drive was five minutes away but I don’t know how I managed the drive I could barely lift my leg, everything just seemed like a blur. I pulled up outside the new house and abandoned my car, handed my keys to my Dad and at that point Adam was standing there to grab me and carry me in the house onto the sofa.
It was getting late there was just my family at my house, so my Dad suggested we ordered fish and chips but I felt so sick to eat that when it arrived I barely touched any. I shouted to Adam to get a bucket and I was sick, at this stage my body was heading into metabolic crisis so between Adam and my dad they got me into bed before settling the boys. I couldn’t move once I was in bed my body became so stiff the pain was unbelievable, the worst pain I have ever felt I was crying in agony.
The clock went by and I hadn’t passed any urine for hours, so I thought I would get up and try but I was stuck I physically couldn’t move. I had to wake Adam up to get me to the toilet and thats when the horror happened, my urine was the darkest colour I have ever experienced with a metabolic crises and we knew I needed to get to hospital.
Adam called my dad back to look after the boys and then called ‘999’ as I needed to get to the specialist hospital that was forty minutes away. The emergency services explained that they could only take me to my local hospital but we knew I needed more specialist help, so we waited til 6am and phoned my specialist nurse Julie direct on her personal number.
Julie answered which was a relief but unfortunately she was not working that morning but she managed to call my consultant who was going in as well as another specialist nurse called Liz, and they were going to meet us at the A&E department. Adam and my dad carried me to the car and got me as comfortable as possible, the journey was so painful for my body that I was glad when we arrived at the A&E. We were greeted by Liz and the team who wheeled me to the emergency room to get me on the bed.
At this stage things were a bit of a blur but I remember feeling so sick that the consulting team decided to give me an anti sickness drug through the canula. A few seconds later I started seeing flashing lights above my head with the doctors mouth just moving with no sound coming out, I started shaking uncontrollably and it felt like Adam was moving away from me….at this point I thought this was it my time was up.
At this point I remember being up on a ward and being surrounded by all my family including Adam by my side, I remember saying “what are you doing here, your ment to be on your course” but Adam replied “ its all ok, its all been sorted”. Georgina then told me to stop worrying about things and to just relax.
I tried to move my legs but they wouldn’t move so I remember that feeling of panic come over me, Adam explained that my createnine kianase level (CK) went as high as 58,000 (bearing in mind a normal level is 22-198, according to MDA.org). My body had experienced its worse metabolic crisis and Adam was told at that level it was like my body had experienced a major car crash.
The consultant explained to Adam that my body cant keep experiencing these metabolic crisis like this and that he had to now become my main carer, just when we thought our life couldn’t change much more we were now going though a massive life change where my body had experienced severe muscle damage and weakness.
I was finally allowed home after spending seven days in hospital but I was now in a wheel chair and needed help with everyday living. I never thought at nearly 31 years old I would be disabled but life has so many paths, some good some bad but one thing was for sure I married my soul mate, my best friend, my rock. Adam coped so well with everything and his family came down from Wales to help out while I was home until things were put in place for me as well as my family too.
Our house had an adapted wet room when we first moved in as well as a stair lift, but an occupational therapist felt I needed a down stairs toilet as I had weakness in the bladder and I was using a commode down stairs and upstairs. Hand rails were needed for the toilet upstairs as well as my bedroom but It was very important to me that I try keep some independence at 31 years old, and not keep asking Adam to take me to the toilet or pull my trousers up etc, even though he would do anything for me.
The toilet adaptation, hand rails, and an outside ramp to the house were all fitted which was much better when going out in my wheel chair, but after talking with Adam we decided to look into getting an electric mobility scooter. One part of me was dreading it and the other part of me knew I needed to make life better for me and for Adam.
I had a visit from my manager and work colleague as the time had come where we knew the only option now would be to retire from my nursing career due to ill health, this was a very sad and emotional time for all of us but I knew I had to do what was right for me and my family as it was hard enough but the boys need things to be a little normal.
Five weeks went by and things had become back to a routine within our new life as a disabled family where Jamie was now really enjoying Daddy taking him to school daily and my body was getting the rest it needed. I decided to sit on Facebook and do some research as I didn’t have much else I could do as I couldn’t just pop out the house now when I wanted to.
After doing some browsing and not finding much out there I decided to set up a Facebook page called ‘Living With VLCAD’ within a few days I was surprised to have found a family just like ourselves who were from Yorkshire. We chatted a lot on Facebook and within a short time we became great friends well more like family really.
There were many families worldwide with VLCAD but not so many within the UK, infact I have spoke to around five families but there are many with other fatty oxidation disorders as they all present with similar symptoms. Who would of thought social media could be such a wonderful thing and bring us rare families together.
Over time we met up with the Yorkshire family and we decided to do some fundraising together for a charity who support families with Metabolic conditions and the charity helped the Yorkshire family when their youngest son passed away of vlcad. The family also have an older son who also has vlcad and a Daughter who is not affected.
We came together and met with our local MP’S at the houses of parliament in Westminster in London to discuss newborn screening and how the condition of vlcad can be tested to save lives. Our local MP’s were happy to back us with trying to get this approved, however after our research and reports we presented to the Newborn Screening it was at that time declined with a further review date in three years. However we are very proud of our achievements and we loved fundraising and supporting other families like us through our Facebook page that we decided the time was right to set up our own foundation.
August 29th 2015 was when The Metabolic Foundation was founded, and it was at this stage we began to organise some small fundraising events. We are three years on from starting and we support many families within the UK and some worldwide with fatty oxidation disorders like the disorder I have myself.
Overall we have come so far from the beginning of my illness to diagnosis and turning the whole journey into a positive, so if ever life can be very hard just don’t give up.
In this section I will now talk about the foundation and explain in more depth who we are and what the condition is.
The Metabolic Foundation
Who are we?
Gemma & Adam are Husband and Wife who both were frantically searching for someone else who understood the term fatty oxidation disorder, after Gemma being diagnosed in 2011 after the birth of their second son, admittedly it was a struggle. Hard to believe we had finally met a family…the Linford family from Yorkshire…. Someone else within the same country!
As time passed and the more we chatted we became close, We eventually met face to face in December 2014 when we visited the houses of parliament to meet our local MPs and tried to fight for newborn screening.
This unfortunately did not get accepted but nevertheless we are proud of our efforts and now Gemma is a stakeholder.
Gemma & Adam have run a couple of fundraisers for other metabolic charities and thought the time was right to start helping others, as they would benefit from this so we decided to expand to do more to help others in the same situation as us.
What do we do?
The Metabolic Foundation provides information, advice and support to all families with this disorder and we fundraise in memory of The Yorkshire Families youngest son.
We support specialist hospitals who have supported us with our own condition and we believe every patient and family deserves the best possible care. By fundraising for new projects we can offer extra care within genetic metabolic diseases and improve understanding of the condition.
Our focus currently is to provide The Specialist Hospitals with updated books within rare disease to help with diagnosing of their patients, as well as our local hospitals to understand what is a fatty oxidation disorder is, and to improve patients experience attending hospitals in an emergency situation. A fatty oxidation disorder can be life threatening if left untreated in every metabolic crises.
We also support our local children’s ward every year by donating gifts.
Our goals are to Donate gifts/items that Hospitals around the UK with fatty oxidation patients (FOD) may benefit from, such as the books we buy currently to help with the diagnosis within genetics to diagnose patients. We Continue to Improve understanding of fatty oxidation disorders and
raise awareness particularly as this is a key subject to help health professionals who may not be aware of such rare conditions, which will help them with the care of their patients.
My own Doctor has learnt how to treat me in emergency situations just by me raising awareness with them and helping them to understand what a Fatty Oxidation Disorder is and this goes for the same as my near by Hospital when I need emergency treatment within a metabolic crisis. The Metabolic Foundation have met many new people with these conditions who are very keen to know about us, and our future goal is to meet many more people and become a registered charity.
Within my story I briefly touched on what my condition was and when I first got my diagnosis I searched google for an explanation of this, According to Google Wikipedia VLCAD is explained as “ Very Long Chain ACYL-COA Dehydrogenase Deficiency is a fatty acid metabolism disorder which prevents the body from converting certain fats to energy, particularly during periods without food.
Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids”.
When I searched online through many organisations who support many genetic conditions, I came across the Newborn Screening who explain the condition, symptoms and treatment in depth as “Fatty Acid Oxidation Disorders known as (FAOD) which are a group of inherited rare conditions where enzymes do not work properly. A number of enzymes are needed to break down fats in the body which is (a process called fatty acid oxidation ). If there is problems with any of these enzymes then they can cause a fatty acid oxidation disorder. People with FAOD cannot break down fat properly from either the food they eat or from fat stored in their bodies”.
Symptoms & Treatment:
The symptoms and treatment vary between different FAOD. They can also vary from person to person with the same FAOD. The symptoms of these conditions vary as we have already stated and depend on the type of fatty acid oxidation disorder. In most disorders, problems occur in birth, childhood and adulthood …. usually brought on by minor infections associated with vomiting or fasting (not eating) and many more triggers. The affected person may become increasingly drowsy with low blood sugar levels and without treatment, this can lead to seizures, coma or sudden death. (Newborn babies)
Problems affecting the heart known as (cardiomyopathy) is also known to occur in some people affected with FOAD and episodes of muscle pain and damage (called rhabdomyolysis); are also symptoms that some experience ….these episodes may be brought on by exercise in adults who have had no problems during childhood. Rhabdomylosis has been the reason to why my muscles are very damaged and weak now.
When people ask me what the condition is that I have I like to explain it in the easiest of terms due to this being a complex condition, therefore my definition is “ A Fatty Oxidation Disorder is where our bodies is unable to break down fat to convert into energy, so we need to eat food regularly every 2-3 hours and not to go long periods without food”.
The condition can be triggered by many reasons and as discussed previously things such as illness, stress, trauma and exercise can bring on an episode, which it is important that we try to avoid these situations. As I explained earlier it was the stress and trauma of moving house that caused my metabolic crises which was very severe at this time leading me to suffer severe muscle damage and weakness and needing to use mobility aids.
Living with this condition I have to follow a strict diet long term and this is the case for many with this condition and other types too, the type of diet I follow is a low fat and high carbohydrate which at the beginning it was such a shock and I knew this wasn’t something that would change overnight.
Adam was at this stage doing the food shopping daily and being a chef in his younger days he had a good idea of what things I could try, and these were pasta dishes with tomato base, salads, white fish (non oily) and white meat. In five years I now know what I can have and what I cant but I really enjoy my food, and even a take-away can be enjoyed but usually chicken cooked on a grill with salad, boiled rice, and avoid the fried section.
The treatment side of the condition varies from each individual although the nutrition supplement we all seem to take is what is known as SOS25 (Adult dose) and SOS10 (child dose) which comes in a sachet and is full of energy, this can be taken in 200ml of water. However I do add a little concentrated orange juice to mine just to help give it a little taste. In a crises situation I take this treatment every 2 hours until my CK level comes down or the Rhabdomylosis clears.
I do take quite a few tablets daily but my main ones are Carnitine and Bisafibrate, which are tablets that help increase the level of carnitine in my muscle as my biopsy revealed I had very little and Bisafibrate to help break down lipid. These are the medications that not everyone with these conditions take, it really varies on results of biopsies and the severity of the condition.
I used to take a liquid called MCT oil but I couldn’t tolerate this too well, it gave me some tummy troubles but I do know a few with the condition who do take this. I currently take a trial drug which I started in 2014 called Triheptonoine which is an oil that replaced the MCT and this is taken orally and absorbed into the body to help the process of Fatty Oxidation, and I have seen and noticed a difference in my CK level and energy levels.
I would like to conclude by saying this book has been my own story on my life in the last five years from when I began to be unwell to present, and in my own words. I do hope you all have enjoyed reading my story and found this useful and a good read, and I hope we reach families who may have the condition or something similar.
I would like to take this opportunity to thank my amazing Husband Adam, my wonderful boys Jamie and Liam who have supported me throughout this whole journey and got me where I am today. The family on both sides have been supportive and I would like to thank all of them but particularly my Dad Terry Junior, Grandad Terry Senior, Sister Georgina, my Mum, My Mum In Law Tracy, Sister in law Kim and my best friend Laura for helping out with the kids and being there for me, Adam and our boys.
I would now like to thank you the readers for taking the time to experience my journey with me, I hope you enjoyed my book.