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Hello my name is Jack. I was born on the 17th June 2012, on Fathers Day, in Belfast, Northern Ireland, and I weighed 6lb and 9 1/2 ounces. I was a little wrinkly, my hair was very fuzzy and white and I was cold all the time but other than that I was a very normal and healthy baby boy.

When I was nearly 3 months old I started to become unwell. I couldn’t keep down my milk and I became dehydrated. Mummy and Daddy took me to the hospital and I had lots of blood tests and a lumbar puncture (ouch!). The doctors found that I had gastroenteritis but because I wasn’t doing all the things a normal 3 month old should be doing they decided to keep me in a little bit longer. 

While I was there one of my eyes started doing a funny blinky thing. The doctors got very worried about me and decided to hand over my care to the neurology team. The neurologists thought that I was having seizures and that I should have lots more tests! I had an EEG where they put lots of funny wires on my head. This showed that I was indeed having seizures! I had a CT scan where they put me into a big machine to look at my brain and then I had an MRI scan where they put me to sleep for a while so I could be put in another big machine to look at my brain in even more detail. I also had lots more blood tests and everyone kept commenting on my fuzzy hair!

I got some medicine for my seizures and I started to feel better. Then my test results came back and I found out that I had Menkes disease. Menkes disease means that my body cannot absorb copper from my milk because I have a faulty gene called ATP7A. Copper is terribly important. Without it I will have lots of seizures, poor development, brain damage, low muscle tone, low body temperature, respiratory problems and I will never walk or talk! I also have kinky hair that sticks up in the air which is why menkes disease is sometimes called ‘kinky hair syndrome’. That is why all the doctors kept looking at my hair, although Mummy and Daddy said it was because the doctors liked my style. Most boys with Menkes disease do not live to see their 3rd birthday.

Everyone was very shocked that I had menkes disease as it is very rare, I am only the third boy in Northern Ireland ever to be diagnosed with it and it affects about one in a quarter of a million baby boys worldwide. Mummy and Daddy told me not to worry too much and I should have lots of fun doing the things that I enjoy. When I got home we went for lovely walks, I met my friends, went to baby massage and to Halloween and Christmas parties. 

Just before my first Christmas I had a really big seizure that wouldn’t stop and I had to get my first ambulance to the hospital. It wasn’t so bad because I got to meet Santa and the Belfast Giants when I was in hospital and I got a present. Even better, I got discharged on the 23rd December and got to spend my first Christmas at home!

In January I caught the cold and I got very sick. I stopped feeding and I couldn’t breathe properly. My breathing got so bad that I had to go back to the hospital. I got so sick that they wanted to put me in intensive care on a ventilator. But I fought back and a few days later I was smiling again. The illness left me very weak and I wasn’t strong enough to drink my bottles anymore. Instead they gave me a tube that goes in through my nose and down to my tummy. I get all my milk and medicines down the tube. Daddy still gives me tastes of ice cream though!

When I got out of hospital I got some really good news. I had been accepted to Northern Ireland Children’s Hospice! This meant that I could go on holidays and go swimming in the hydro pool, chill out in the sensory room, get creative in the art room, noisy in the music room and enjoy all the other activities. I was pleased. On Easter Sunday I went up for my very first stay. They had a spa bath with bubbles which I loved but I found out that my very favourite thing to do is go swimming in the big warm hydro pool. I had a great time and Mummy and Daddy get to stay with me too!

By April there was no sign of winter going away and I got very sick again, this time with the flu. I couldn’t breathe very well and at one point I actually stopped breathing and doctors had to resuscitate me. The doctors told Mummy and Daddy that there was a chance that I might not survive but I fought really hard and eventually I got better and I got to go home. I got out just in time to go for my second stay in Horizon House which was just as much fun as the first!

The summer was fantastic fun. Mummy, Daddy and I went to the seaside, went for lots of walks and I went swimming in the hospice pool. Daddy decided because I loved the warm water so much, that he would buy me a lazy spa. Because they had all sold out in Northern Ireland, Daddy and I drove to Carlow to buy one from Homebase. When they heard how special I was and how much I love swimming, they gave us the pool for free! I spent all summer swimming in my pool and relaxing in the bubbles. It was the best time ever!

In September it started to get colder again and I got very sick. During a stay at the hospice, the nurses noticed that I was very unresponsive and my oxygen saturations were low. The doctor came round to look at me and rang for a 999 ambulance. Mummy and I got to the hospital superfast. I had an infection and hypothermia so I got a big blanket put over me which blows hot air and that warmed me up. Tests showed that I had bronchiolitis and a urine infection and while I was in hospital I picked up the super bug, pseudomonas. In hospital I found out that I was going to be a big brother in April and best of all, my little brother had tested negative for Menkes! I was delighted.

When I got home I still felt ill. It was harder to breathe and my oxygen saturations were often low. Mummy and Daddy had to suction me to clear my airways more and more often and by Halloween I was really struggling. On the 1st November I took a really bad seizure and Mummy and Daddy had to call the ambulance again. We got to hospital really quickly and I was brought straight to resus. I was given oxygen and lots of drugs to bring me out of my seizure. The next day the doctors decided that because my breathing wasn’t good that I probably had another chest infection. Results showed that I had pneumonia as a result of my pseudomonas. I was given lots of antibiotics and steroids for my seizures.

A few weeks later I was getting worse instead of better and one day I was so tired that my oxygen saturations went to 50% and I was barely making any effort to breathe. The doctors told Mummy and Daddy that I would pass away that day. All my family came round to see me and Mummy and Daddy decorated my hospital room for Christmas. They played me music and by the end of the day I felt like I could breathe a little better. Mummy and Daddy both stayed with me at the hospital all the time. The hospice said they would take me for an ‘end of life’ holiday but I was too sick to go in an ambulance so I stayed in the hospital. I was given morphine so I wouldn’t be sore. I Iistened to my music and Santa came to visit me for the second year in a row! Eventually I decided that I really wanted to meet my baby brother so I worked a bit harder with my breathing and was allowed in the ambulance to go to the children’s hospice. In the meantime Mummy and Daddy got a big oxygen machine delivered to our house and got trained in how to take care of me so that I could go home. I spent a week at the hospice and went home on the 23rd of December again! We had a quiet Christmas as I had to stay on oxygen all the time now and I was too weak to go out.

I stayed at home for the next couple of months but my breathing was never really very good so Mummy decided to take her maternity leave early so that she could look after me. My airway had to be cleared of mucus all the time now because of the pseudomonas and by the end of February I had to go back to hospital with pneumonia. Once again they said I wouldn’t survive but I still wanted to meet my little brother and I was so close now!! I went back to the hospice and on the 5th April I went home. The next day my Mummy started having tummy pains and she went to hospital. At 1.31am on the 7th April, my baby brother AJ was born!! Daddy showed me pictures and he looked just like me. Very handsome! I couldn’t wait to meet him and a couple of days later Daddy brought me to the hospital to meet him and we all went home together. My baby brother can be a bit noisy and annoying sometimes but we are best friends and I love him.

In September 2014 I went into severe respiratory distress as a result of a cold I had caught. I got my last ambulance to the hospital. After a week the doctors talked to my Mummy and Daddy and told them that my chest and tummy were not going to get any better (My tummy had stopped digesting milk). Mummy and Daddy decided I would be more comfortable at Horizon house.

I arrived at Horizon House a couple of days later and I was reunited with my little brother AJ. We had lots of fun over the next few weeks. We went swimming, drew pictures, played in the garden, made music, saw summer the pony and lots more. I had a great time and was able to relax and enjoy my family :-)

Jack fell asleep for the final time on Tuesday 4th November 2014. He died peacefully in his parent's arms.

Mummy Judith

Posted: November, 2015

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