Are we just Dreaming this
I have often been asked by other Parents how do you cope?
It is like when you have been on the same ward for 6 weeks and a Parent comes in after 3 days and says
We cant wait to get out, so how long you been here?
So where to start?
You have a child that is the most exciting part of life, ours came to us at 6 months old, you bond, show the child off to family and friends and life goes on. after a while, we noticed no growth was happing funny things that should seem not to be? so a trip to our local doctors then after a few months it went to our first hospital visit.
Maybe it is because the child was adopted yes that must be it, how silly of us not to think this first. Doctors seemed to think the child was just slow at catching up and told us to feed her all the things doctors tell you not to feed a child, everything that was fatting, maybe we could kick start something to help her grow or even put on weight. I remember we took her out wrapped up all snug and warm, yes it was cold but hay she was snug and tucked up, she just cried and cried, she was so cold to touch like ice. Even after we fed her there was no warmth in her hands or feet, just like she was laying there undressed.
Over a while, she grew a wee bit but not like our friend’s children.
While out in her pushchair one day we saw her foot twitch and didn’t take much notice, we had enough to cope with, with the hospital trying to work out why she was cold. We are pumping in everything that was sweet, and full of fat, we had omega milk just for the fat and oils in it.
Then while out with friends we saw a longer twitch this one was 5 seconds long, so we rushed her into the hospital. With nothing to show we were sent home. The twitching got longer after a while lasting 5 minutes or so, each time I would rush her to hospital. Nothing showing sent home..
This is sad for me reliving this, we had a child that was baffling the Doctors, tests were carried out to find nothing, were we imaging things, the adoption team backtracking the history best they could, our hearts were breaking because to be honest there was nothing we could do to help, the movements carried on she was under our local hospital who were linked to the world-famous GUY’S Hospital in London.
Many times I would rush her into our hospital but she had stopped wobbling by the time I got her there, so we started to film what we were dealing with, buying a video camera, then our Hospital asked us to come in and meet the leading epilepsy consultant in the UK (England) We took our camera with us because at last, we were going to get answers. My Sister came with us being a staff nurse on an intensive care unit.
We talked to this leading Consultant we went through everything, then said, we have this on video…… on watching the video she turned to the others in the room, turned back to us and said. In all my years I have never seen anything like this….. we are going to need you to come up to London for more tests, your heart just hits the deck. We felt sick we were no closer to finding out anything.
We go home to wait for the appointment for Guys Hospital
we were also dealing with her being very very sick throwing up for 13 hours like it was when it started to when it stopped, I had never seen so much sick come out of a small child.
Learning how to cope
We arrive in London find the hospital, I remember looking up at it, and thinking this is a tower block.
We are shown to our room, I remember thinking, looking at her cot, that looks like a prison with the bar’s, she was about 2.5 years old, we walked through a small ward were the children were all doubled up not good to see at all, inside your wishing it is not this condition, I took some copies on a DVD I had done with me of the movements we were dealing with at home, the nurse said there are some doctors who are asking to see those as it seems the ones you sent up are lost. This is your life on the DVDs and they got lost grrrr
We counted 12 Doctors in that room that day, one said and I quote, adopted? yes that is a behavior disorder.
We stayed there in that room most that week until we asked to be able to let her play as we felt like lab rats being watched with no movements happing, they took us up two floors to a quiet area with things to play with, funny as there were student doctors in the room doing study work, she played for about 1 hour with us, then we noticed a twitch, we called out to everyone in that room to watch as to that point no one had ever seen one, I know this sounds bad but at last others could see what we had been dealing with at home for 2 years. They called everyone she was rushed down two floors this is kinda still a blur to me. They took fluid from her 
spinal cord area. At last, we had many others mostly doctors who our team could talk to about what they had seen, how it came on and what happened.
A day or two later we were sent home while tests etc were carried out. Six months later we were recalled to a Different children’s hospital in London over the river to Big Ben. We meet up with a team of Consultants and many others, asked a lot of questions we were told her blood had traveled the world DNA taken and sent to Germany, the USA was also involved. The Doctors wanted to put a feeding tube up her nose? Like you see here.
(Word of warning.
Carry spares of everything your child needs because like me your get to the hospital to be told, did you bring the old tube with you? as we don’t have spares, the first time I had to drive home to get the one she had pulled out…)
This was a shock but maybe they had an idea and a plan?
The lead Consultant we had seen in our local hospital came to talk to us, she said. We think we know what your daughter has, and we would like to try something but it has not been passed in the UK yet but has in the USA, we believe your daughter has the condition called……
Things get easyier as you understand what your dealing with
So for anyone thinking what is Glut-1 your now on the same page as we were back then. we were told that her body could not tolerate sugar or carbs and that the ferry taking food from her stomach to her brain did not make the last stop, but for the past 3 years we had been feeding her everything you now say her body could not tolerate, so that would explain the hours upon hours of her throwing up. The body would store what it could not use and throw it back up.
On top of all this, the financial stress was taking its toll on us to, we knew there was going to be many more hospital stays, either in London or at home, the stress of it all was hard at times to come to terms with, they put the tube in and taught us how to feed her through the wee tube, the feed was thick and didn’t travel well down that small tube, the first time the nurses tried the two tubes parted and guess who was sitting under the full of the feed…. lol well the nurses found it funny.
We had said yes to a medication feed that had not been passed by the UK medical board, omg I thought let’s hope they know what they are doing. She was being fed the ketogenic diet fueling her brain with pure fat, this idea first came about for treating epilepsy, but our daughter had something no one had seen many cases in the UK before, we had a team of Doctors that thought outside of the box, we were lucky we had them.
We were taught how to feed her and it had to be done every two hours even at night, I remember getting caught in traffic one time watching my watch panicking in my head I was not going to meet the 2 hr deadline, so I pulled over onto the pavement in a town got everything out the boot of my car, I carried a feed as a spare with everything needed to warm it up and feed her, I got some looks from people walking by I have fed her is some strange places, were you feel the only person the people are looking at is you. Our local hospital changed the tube to one long one from her stomach we tucked it into the back of her trousers, the medical supplies we were being sent each month ran into £1000s of pounds thank god for the NHS.
When you have a child like ours you will lose friends because they can’t cope, your dealing with it but they can not cope, you get the silly looks, the daft comments because people feel the need to comment on things they have no idea about, I even had a mother of a tof child from a UK support group post I was making up my daughters condition just to get the attention, I have had comments that you just think to yourself, idiot.
She was having what we call wobbles they could last from 1 minute to the longest we had was 8 hours, and trust me there was nothing we could do to help her, but be by her side while she thrashed, kicked, bounced all over the place, it was heart destroying, as she has grown it had got harder trying to move her from the car to our home, because her body lives on fat any movement takes energy from her, like breathing, blinking, moving, eating, swallowing, all the things we do and take for granted her body can not contain the drain, and how I explained it to her teachers was it is like running your car on the empty tank, the faster you go the the less ground your cover, but take it slowly and you go much further, this is our child. The hot, the cold, worry, excitement can trigger a wobble there is nothing we can give her to help, we just have to ride it out. This video was taken on her Make a Wish evening brought on by excitement. She is sitting in her wheelchair.
She has a few movement disorders, she is autistic re the wearing of the earmuffs and Glut-1 which brings more with it also.
I have a classic car I parked it in a disabled bay once, this lady came over and said you disgust me parking that in this bay, I turned around and said my daughter has a life-limited condition, you stupid idiot. A man once stepped over her while she was on the floor having a major wobble, saying, can’t you control that child….. I told him what I thought.
We nearly lost her once the doctors tried to find a way to use TPN (Feed through her veins) it had never been done before in the UK for a child with such a complex condition, it took 12 World doctors to come up with the idea on how to do it, while that was going on, I was working a week then traveling to London sleeping in the children’s play area overnight, then on Sunday going home to work to keep money coming in to keep my girls with money for the basic things as they were stuck in London, while this was going on I had a so-called dr in one of the UK tof groups saying she couldn’t understand why I was stressed out as to TPN a child was easy. People always think they know better.
Even the people who should understand seem to be blinkard to a child who has needs, my advice to any Parent is stand your ground you know your child better than anyone, I once met a young Dr who changed the way the hospital team were treating my child over and above of her main team in London, he is not allowed near her now, her consultant in London tells his Nurses to listen to MUM she is at a PhD level of understanding her child’s condition. Like the time she was so ill she needed a transfer to London under blue light, we waited 7 hours until I got up and asked the Nurse what was the delay, her reply was it’s not showing on our screen, I walked by picked up my phone and made a call, walked back to the nurse and said, you got 5 mins to prep her for London the driver is a blond hair Australian guy his mate is dark hair and name is Paul. She looked at her screen and it flashed up. She asked, who on earth did you just call?
While they were in London our bank card was swiped we lost everything in account, I found out from my wife in London, the worst thing to happen at the worst time, I sat outside my works and just cried, our trainee polisher a Bill Baily came out sat next to me and said, it be ok mate we get it sorted, he left shortly after that bless him he couldn’t get his head around the art of polishing. We did get it sorted the bank was really helpful.
We now have a Micky button into fed her now, a lot easier
There are years and years of things I could tell you about my life as a Father to a girl now in her 16th year born with a metabolic condition so rare it was like walking on ice not knowing if you were doing it right or not, but I will tell you one thing my daughter is my world she is why I go to work every day she was our blessing from God, yes it has been stressful but your soon learn who you can trust and who you do not need to bother with, your child will be stronger than you know, and give back more than any other, ok your life will not be the same again but at least you can say your life has been interesting, I have been told her condition I now being picked up on around the world and more understanding has come about from the work of the teams from the early part of this, more is being understood about different conditions, stick to your guns if your not happy with your Drs, because Parents live 24-7 with their children.
Meet my Daughter she has a range of conditions but I would not be without her now the love given to my wife and myself is second to none.
