Kate Jenkins
Kate's 46 miles for Thomas
Fundraising for Metabolic Support UK
Story
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4th August changed our lives forever. At 04.04am Thomas Wesley Jackson was born and before we knew it we were going home that evening with our new baby. The days that followed were scary, amazing, and sometimes overwhelming. As first time parents we were trying and doing our best to love, care and comfort our new edition. It soon came round to the day of heel prick test for Thomas. Now i'd heard of this but wasn't entirely sure what it was for so when the community midwife arrived I asked and I vaguely remember what she said, as at this point I was feeling pretty exhausted from breastfeeding, lack of sleep and all the other things that you experience in the first few days of becoming a mum and it went in one ear out the other, but I do recall her saying if any problems you will be contacted, if all ok you won't hear anything. Not at any point did I think I would be hearing back from them I just thought baby had checks at the hospital and all was ok, he was weighed that day too and had put a little on which i was relieved about as I had struggled since getting home with breastfeeding, getting him to latch on, my boobs becoming like atlas balls cause he wasn't feeding, I expressed a little and we also tried formula as I felt Thomas wasn't having enough milk this panicked me, he was sleepy too but what babies aren't? I called home start support too for reassurance that I was doing everything correct, they said yes and even had someone call round, by this time though Thomas was in full swing and had got the hang of it and I had too. I finally felt I was feeding my baby! Anyway the heel prick was done and that was that.
A couple of days later my phone rang and its was the community mid wife
MW "Hi Kate are you not in"?
Me "Hi no sorry were just at IKEA up the road is everything ok"?
MW " There has been some abnormalities with Thomas's blood from the heel prick.
Me "oh right we can come home we will be 10mins can you wait"
MW "yes see you soon"
At this point I felt sick I turned to Dan told him what she said and said we need to go, I threw back the things we had picked up and raced back to the car then home. All the time wondering what she meant, you start thinking the worst I could feel the emotions building up not knowing what to expect when I walked in and spoke to her. Once home she said I wanted to call and see you rather than tell you over the phone, Thomas has been flagged up as having MCADD medium chain acyl-CoA dehydrogenase deficiency, a rare inherited genetic condition and handed me a printed hand out, gave me a number and said to ring and ask to speak to Dr ......... I was fighting back the tears as I started to ask questions but she didn't have the answers. She left and we rang up and made an appointment for 10am the next day. This is when I crumbled I'd flicked through the leaflet she gave us trying to take in what it was saying. Dan was on his phone on the NHS website reading aloud to me...........
MCADD is a rare genetic condition where a person has problems breaking down fat to use as an energy source. This means someone with MCADD can become very ill if there body's energy demands exceed their energy intake, such as during infections or vomiting illnesses when they are unable to eat. problems occur because fat is only partially broken down which leads to a lack of energy and a build up of harmful substances in the body. MCADD is a lifelong condition that's present from birth, it's estimated to affect up to 1 in every 8000 babies born in the UK.
I was trying to take it all in he carried on with symptoms, what causes it, how it's inherited, and treated etc. The only thing that I took from it all was left untreated its potentially life threatening. That was it I was in bits. The rest is a bit of a blur. We attended the appointment where Thomas had another blood test, urine, height and weight were taken too. MCADD was explained in more depth, there were more tears from me, lots of questions from us both and then reassurance that as long as we carry in doing what we are doing (regular feeds no longer than 4hours in between) everything should be ok if we are concerned about anything we have a 24h helpline to call, we were given an emergency regime and some medicated drink to administer in the future but for now just bring Thomas straight down to A&E if we have any concerns. The Dr also told us about CLIMB ( the charity organisation I'm cycling for ) it stands for Children Living with Inherited Metabolic Disorders, they are the leading patient organisation for inherited metabolic disorders, supporting and helping thousands of families and patients worldwide, after this he said we will be contacted with regards the confirmation that it definitely was MCADD and another appointment would be made. I left the hospital that day thinking why us, why Thomas he has a condition inherited from me and his dad cause we are carriers, its not his fault he shouldn't have it, I want it to be me, I was devastated for him.
Well we got the confirmation Thomas has MCADD he has a defective gene that results in enzyme deficiency which upsets the normal chemical process, symptoms vary greatly and as mentioned before in some cases can be fatal, this is when left untreated luckily for Thomas and us we got into a good feeding routine it got picked up on the heel prick test. Since then we have been learning more about the condition (things are actually sinking in now for me) we unfortunately have been admitted to hospital as Thomas was taken ill, he was inserted with a nasogastric tube which fed him with his medicated solution SOS 10 this was administered over a 24h period being taken out once the doctors were happy he then was back on milk with feeds small and often. We went in Friday and were discharged on the Sunday. Thomas will have this condition for life and I've been told the older he gets the easier it is to manage. It's a constant worry in the back of my mind and I've become extremely anxious since his diagnosis about him becoming unwell, high temp, sore throat, sickness pretty much anything that could result in him not eating which then leads to a possible hospital admission. We recently had his 3 monthly check up, he's under the specialist metabolic team at Manchester and he's doing great but it did bring it back that he has such a serious condition if not managed correctly. We've been lucky enough to go away on holiday and are taking each day as it comes, most days you wouldn't know anything was wrong but it only takes a high temp or teething for example at the minuet for him to be off his food.
Thomas is nearly 8 months old now and will be a few days away from turning 1 by the date of the 46 mile sponsored bike ride on 30th July. I decided to apply to ride for CLIMB and take part in the ride London 46 event to help raise awareness not only for his condition but all the other rare inherited disorders out there. I wanted to challenge myself and have something to aim for completing this ride. As most of you know I'm quite into keeping fit purely for the fact that I enjoy my food so much but now I want to be fit and healthy for my son and doing something like this is keeping me on track too as it's getting me out training.
The support and information we receive from CLIMB is invaluable, so this is my way of giving something back to a truly amazing charity.
I wanted to also share my story as up till now not many people knew about his condition, at first i found it hard to talk about because to be honest i didn't really understand it and i don't want him to be treated or feel different in the future. Some days i do still get upset about it, i just wish it was me that had it but i guess as a parent all you want is for your child or children to be healthy and happy and happy he certainly is!
I am hoping to raise £500 for CLIMB anything more than that will be amazing. Please just donate what you can, spread the word and get sharing my story to make people aware that these conditions are out there, that things can be done and with help, support and research things can improve!
Thank You.
Much love Kate, Dan and Thomas
Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.
4th August changed our lives forever. At 04.04am Thomas Wesley Jackson was born and before we knew it we were going home that evening with our new baby. The days that followed were scary, amazing, and sometimes overwhelming. As first time parents we were trying and doing our best to love, care and comfort our new edition. It soon came round to the day of heel prick test for Thomas. Now i'd heard of this but wasn't entirely sure what it was for so when the community midwife arrived I asked and I vaguely remember what she said, as at this point I was feeling pretty exhausted from breastfeeding, lack of sleep and all the other things that you experience in the first few days of becoming a mum and it went in one ear out the other, but I do recall her saying if any problems you will be contacted, if all ok you won't hear anything. Not at any point did I think I would be hearing back from them I just thought baby had checks at the hospital and all was ok, he was weighed that day too and had put a little on which i was relieved about as I had struggled since getting home with breastfeeding, getting him to latch on, my boobs becoming like atlas balls cause he wasn't feeding, I expressed a little and we also tried formula as I felt Thomas wasn't having enough milk this panicked me, he was sleepy too but what babies aren't? I called home start support too for reassurance that I was doing everything correct, they said yes and even had someone call round, by this time though Thomas was in full swing and had got the hang of it and I had too. I finally felt I was feeding my baby! Anyway the heel prick was done and that was that.
A couple of days later my phone rang and its was the community mid wife
MW "Hi Kate are you not in"?
Me "Hi no sorry were just at IKEA up the road is everything ok"?
MW " There has been some abnormalities with Thomas's blood from the heel prick.
Me "oh right we can come home we will be 10mins can you wait"
MW "yes see you soon"
At this point I felt sick I turned to Dan told him what she said and said we need to go, I threw back the things we had picked up and raced back to the car then home. All the time wondering what she meant, you start thinking the worst I could feel the emotions building up not knowing what to expect when I walked in and spoke to her. Once home she said I wanted to call and see you rather than tell you over the phone, Thomas has been flagged up as having MCADD medium chain acyl-CoA dehydrogenase deficiency, a rare inherited genetic condition and handed me a printed hand out, gave me a number and said to ring and ask to speak to Dr ......... I was fighting back the tears as I started to ask questions but she didn't have the answers. She left and we rang up and made an appointment for 10am the next day. This is when I crumbled I'd flicked through the leaflet she gave us trying to take in what it was saying. Dan was on his phone on the NHS website reading aloud to me...........
MCADD is a rare genetic condition where a person has problems breaking down fat to use as an energy source. This means someone with MCADD can become very ill if there body's energy demands exceed their energy intake, such as during infections or vomiting illnesses when they are unable to eat. problems occur because fat is only partially broken down which leads to a lack of energy and a build up of harmful substances in the body. MCADD is a lifelong condition that's present from birth, it's estimated to affect up to 1 in every 8000 babies born in the UK.
I was trying to take it all in he carried on with symptoms, what causes it, how it's inherited, and treated etc. The only thing that I took from it all was left untreated its potentially life threatening. That was it I was in bits. The rest is a bit of a blur. We attended the appointment where Thomas had another blood test, urine, height and weight were taken too. MCADD was explained in more depth, there were more tears from me, lots of questions from us both and then reassurance that as long as we carry in doing what we are doing (regular feeds no longer than 4hours in between) everything should be ok if we are concerned about anything we have a 24h helpline to call, we were given an emergency regime and some medicated drink to administer in the future but for now just bring Thomas straight down to A&E if we have any concerns. The Dr also told us about CLIMB ( the charity organisation I'm cycling for ) it stands for Children Living with Inherited Metabolic Disorders, they are the leading patient organisation for inherited metabolic disorders, supporting and helping thousands of families and patients worldwide, after this he said we will be contacted with regards the confirmation that it definitely was MCADD and another appointment would be made. I left the hospital that day thinking why us, why Thomas he has a condition inherited from me and his dad cause we are carriers, its not his fault he shouldn't have it, I want it to be me, I was devastated for him.
Well we got the confirmation Thomas has MCADD he has a defective gene that results in enzyme deficiency which upsets the normal chemical process, symptoms vary greatly and as mentioned before in some cases can be fatal, this is when left untreated luckily for Thomas and us we got into a good feeding routine it got picked up on the heel prick test. Since then we have been learning more about the condition (things are actually sinking in now for me) we unfortunately have been admitted to hospital as Thomas was taken ill, he was inserted with a nasogastric tube which fed him with his medicated solution SOS 10 this was administered over a 24h period being taken out once the doctors were happy he then was back on milk with feeds small and often. We went in Friday and were discharged on the Sunday. Thomas will have this condition for life and I've been told the older he gets the easier it is to manage. It's a constant worry in the back of my mind and I've become extremely anxious since his diagnosis about him becoming unwell, high temp, sore throat, sickness pretty much anything that could result in him not eating which then leads to a possible hospital admission. We recently had his 3 monthly check up, he's under the specialist metabolic team at Manchester and he's doing great but it did bring it back that he has such a serious condition if not managed correctly. We've been lucky enough to go away on holiday and are taking each day as it comes, most days you wouldn't know anything was wrong but it only takes a high temp or teething for example at the minuet for him to be off his food.
Thomas is nearly 8 months old now and will be a few days away from turning 1 by the date of the 46 mile sponsored bike ride on 30th July. I decided to apply to ride for CLIMB and take part in the ride London 46 event to help raise awareness not only for his condition but all the other rare inherited disorders out there. I wanted to challenge myself and have something to aim for completing this ride. As most of you know I'm quite into keeping fit purely for the fact that I enjoy my food so much but now I want to be fit and healthy for my son and doing something like this is keeping me on track too as it's getting me out training.
The support and information we receive from CLIMB is invaluable, so this is my way of giving something back to a truly amazing charity.
I wanted to also share my story as up till now not many people knew about his condition, at first i found it hard to talk about because to be honest i didn't really understand it and i don't want him to be treated or feel different in the future. Some days i do still get upset about it, i just wish it was me that had it but i guess as a parent all you want is for your child or children to be healthy and happy and happy he certainly is!
I am hoping to raise £500 for CLIMB anything more than that will be amazing. Please just donate what you can, spread the word and get sharing my story to make people aware that these conditions are out there, that things can be done and with help, support and research things can improve!
Thank You.
Much love Kate, Dan and Thomas
Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.