Owen was born September 9th 2006 weighing 5lb 11oz, Owen was born at 37+3 weeks, everything was perfect.
As I had a niece born 5 weeks later things started to become evident things wasn't right, at 3 months old Owen had this breathing holding episode, he went blue and stopped breathing, I managed to get him around, we took him to A&E and he was examined, we were told he had bad reflux and he was sent home with Gaviscon. As the months went on went on things were still not right, he was still having breath holding episodes, and he had no developmental skills, he couldn't hold his head, or a spoon even a rattle, health visitors advised me that he was normal, fine in fact nothing wrong just born a bit early.
He failed his 6-9 month check as he couldn't weight bear, well basically he couldn't do anything. I was one of these first time mothers that didn't have a clue, we took him to the Doctor's and he visited health visitors every fortnight and they all said he was a slow developer and to try for another baby to bring him on.
After his first birthday I got so fed up as Owens ability was of a 4 month old baby, by this point Owen started having physio therapy and occupational therapy, we also gained a community pediatrician, I still wasn't happy. I took Owen back to the Doctor as he was 13 months old and still having reflux and vomiting food, he wouldn't really drink anything, he done a referral to the hospital paediatric team, Owen was assessed and another doctor was called into the room, another assessment was done, my husband and I were told Owen needs an urgent MRI referral as he had a severe global delay. Owen had his MRI scan and was sent home, we were in good spirits as we thought he had nothing wrong as the nurse said if there was a problem you will know before you go home, nothing was said and we went home.
A few weeks later I was holding a positive pregnancy test and two days later I was holding a letter saying Owen has brain damage due to lack of blood flow. I spoke to the paediatrician and I freaked out as I just found out that not only do I now have a disabled son and the cause was unknown I was also pregnant too.
We were sent to genetics, they believed Owen had a stroke inside the womb, his MRI scan was then sent to the neuro team at Oxford.
After a few months Owen underwent various testing including a lumbar puncture at John Radcliffe Hospital Oxford, at this point I was 21 weeks pregnant with my daughter, all tests that Oxford managed to get all come back clear/negative. Owens breath holding was getting worse and it was taking longer to bring him round, one day during an genetics appointment the genetics doctor finally saw this, it was not breath holding at all it was something called salaam attacks, also known as infantile spasms (epilepsy) and was finally treated with anticonvulsants at the age 21 months old. Owen was also having painful urination which was later confirmed as an over sized bladder which turned into a bladder diverticulum.
Two days before Christmas in 2008 we were called to John Radcliffe hospital for a second MRI scan which confirmed brain damaged which again they thought due to lack of blood flow, Owen also had a lot of blood tests taken. In February Owen had a surgical catheter fitted called a suprapubic catheter, he also had more bloods taken as a second opinion as the blood tests in December confirmed low copper levels also low cereoplasmin levels, a sample of hair was also taken. We had a clinic appointment with Owens paediatrician which was unplanned, we were called in and were also called in to see Owens Neuro and genetics doctor 2 days later.
On February 24th, 2009 at 14:15, I heard the words NO Parent should hear. As you are aware Owen has had several tests done, unfortunately I have some bad news, Owens blood tests and hair sample confirm Owen has menkes disease, for which there is NO cure, Owen may not live to see his 3rd birthday. Menkes is a terminal condition, and children (boys) often die in the first decade of life.
Owens life and ours spiralled upside down, he lost his ability to feed and become tube fed. He also underwent a bladder diverticulum removal in Feb 2010 with a gastrostomy fitted at the same time. In May 2010 Owens reflux got so bad he vomited his full 200ml feed this would also bring on a seizure, he ended up being admitted with aspiration pneumonia, 10 weeks later he was admitted again with aspiration pneumonia, on the 9th October Owen was struck with aspiration pneumonia again brought on by a seizure which lasted over one hour, he wasn't allowed his emergency meds due to his night time med that he just had it, it could have stopped his breathing.
In October we thought Owen was fine and will be coming home the following day, I went home just for one hour to have a bath, this was the first time I EVER left Owen at the hospital. I come back to find Owen in respiratory distress, I was told Owen was in a bad way and may need to go Leicester Royal hospital, the anethetist come in and basically told me that he's in the process of loosing his battle and in the process of shutting down, they put a nasal passage airway in to open his airway, when it was inserted I was shocked by the amount of secretions that flooded out of Owen bless him. Oct 13th Owens health continued to deteriorate, we were basically told to let him go withdraw all treatment, he wasn't going anywhere, he just started nursery, he was granted a Make A Wish trip, he had a new room just built, he was not going to die that was not an option, Owen loves his life and all the experiences he's had since his awful diagnosis. I demanded help I wasn't ready for him to leave me, I knew in my heart Owen wasn't ready to go, it was understood children like Owen never come off ventilation, I was told no where had icu beds, I stressed he has the care that he needs, he has full resus on his medical records.
Owen was put on a ventilator in the adults icu it our local hospital, he was transferred later that evening to Leicester Royal infirmary to PICU and he stayed there for 21 days, 14 days of that was on a life support machine, during his stay he got ventilation pneumonia he was put on a CPAP machine called the nippy, this deflated his left lung so he went back on the ventilator, it was the most traumatic time for us all including our 2 year old daughter.
Owen pulled through after me stressing at him and reminding him only he can make himself better, if he wants to go back to school and have his wish trip to Florida then only he can do it. Two days later Owen was off all breathing equipment and being transferred back to Kettering General hospital on the 5th Nov 2010.
Owen was very fragile and needed an urgent fonduplication operation, he had this operation 27th Jan 2011. Owen has been going from strength to strength since, he also had his trip to Florida with Make A Wish, this was an amazing experience for us all, one day we would like to go back and show Owen more of Florida as he was still poorly when we went.
We have been taking Owen Disneyland Paris nearly every year as he loves Disney so much. In December 2011, three days before Christmas Owen had an emergency suprapupic catheter fitted as he diverticulums returned but much worse than before, his bladder and diverticulums were retaining 1000ml (1L) of urine, he was home for Christmas but he just slept the day away as he was in agony, it was so hard to see him like this. As the months went on the pain never shifted he cried a lot even school struggled with him, during his 6 weekly catheter change it became evident what was wrong, Owens catheter was placed in the wrong place, it was too close to his urethra the catheter went into his stoma as usual but went down the urethra and out normal route, he was screaming, it is every males nightmare even Owens Dad was cringing at this, as a parent it was difficult to watch.
After a few months it was decided Owen was to have another bladder op, it was originally decided he would have a mitrofanoff, it is a very complex procedure, I researched like crazy and as I wasn't happy so it was decided he was to have a vesiocostomy, a stoma which leaks out urine, the operation went well although there were a few complications due to scaring tissue which made the operation difficult.
Owen has coped so well post OP, he was happy again.
November 2012 Owen looked so pale, he had a viral that just wasn't shifting, after a week I was just not happy I was completely exhausted too, I sent Owen into hospital, he was examined but sent home, Owen become very lethargic and was sleeping constantly, I took him back hospital, this time he didn't go back home, I demanded he had a blood transfusion as Owens hb was too low, Owen isn't a candidate for iron supplements as his ferritin is too high, 2 days after being in hospital his health was deteriorating, he was severely anemic had pseudonomas upper airway infection and was also a c diff carrier, it was another disturbing time, he was given treatment inc a blood transfusion, again it was questioned how far are we going to push Owen before we stop treatment, I stressed we never give up on Owen and we do what we can to get him better. He completed his treatment and was discharged from hospital 23rd December. Owen was all smiles Christmas eve laughing etc, but again Christmas day he was a bit off, boxing day Owen was vomiting so went back in to hospital, if Owen starts vomiting he becomes dehydrated quite quick and needs potassium supplements, he went home the following day.
Owen was still not 100% new years eve I noticed Owen had spots, we started new year with Owen having chicken pox!!! this could of taken his life but he managed it and battled through it at home, it was hard work but we got there.
Owen has been fantastic since then, smiles and laughter. We have just celebrated his 7th birthday, which was awesome, he had a car called Kettering Mcqueen he loved it he was laughing, he loves balloons too so he had a balloon modeller, a week later we took him to Disneyland Paris, he was cold but he had a fantastic time.
He is such an amazing boy and he make us all proud. He has met some awesome people including Mr tumble which he met last year via Ray of sunshine charity. I would like to say thank you for reading Owens story, please share his page as menkes is rare and isn't often thought of when trying to find a diagnosis and is normally misdiagnosed as basic cerebral palsy. I am so great full for being pregnant with my daughter, of it wasn't for being pregnant with her Owen may still be undiagnosed.
Posted: January, 2014