From Toby’ Mother:

On March 21st, 2015, a beautiful baby boy was delivered weighing a healthy 7lbs 3oz.  He was perfect.  We called him Toby.  He has one older brother & an older sister who adore him..our family was complete.

Toby was 4 months when we noticed he was generally floppy & still couldnt hold his head so we took him to the GP, the doctor was concermed more with the size of Toby’s head, however to us it was normal.

A couple of weeks later we had a referral appointment at the hospital which we attended only to find out the appointment had been messed up & we were there for something that wasn’t relevant to Toby’s needs. We were very frustrated by this, but the hospital and doctor’s couldn’t have been any more apologetic.  We soon had another appointment for Toby.  However, by this stage, he was almost 8 months old and still no improvment from his last GP appointment.

It was a Thursday afternoon, we arrived at the hospital for our referral and words cannot describe how nervous we were in the waiting room.   A nurse came and asked to weigh Toby while we waited for the doctor. Then came our turn with the doctor.  The doctor examined him and had no major concerns regarding his head size, but asked what our worries were.  I obviously stated the floppiness and he totally agreed with me.  He also noticed Toby had an inflamed liver & spleen and his weight was very below what it should be. The doctor told us the symptoms lead to a metabolic disorder. Toby was to be admitted to the hospital for tests, but there wasn’t a bed available, so we had to return on the following Monday at 10.00am.

Monday arrived and I just couldn’t function.  I was so nervous, we settled Toby into the  hospital and readied him for some tests.   We were told would take weeks to come back. When the doctors came, we were told he had a metabolic disorder, but they needed to find out what kind.  So, after 5 days of tests, we were allowed home, but Toby had been put on a high calorie milk and we were told he needs everything to be full fat.   At this stage, we assumed it was just a supplement disease.  We thought that we would learn to control it, but we couldn’t have been more wrong.

We received a letter from Toby’s consultant with an appointment for the 29th of January.  However, our baby came down with bronchitis which put him back in hospital. We arrived and went through the whole process of admissions and Toby had to go on oxygen.  He was very uncomfortable and his saturation levels were 88.  Toby’s consultant came and took us into a quiet room.  Up until this point, I assumed that he was going to tell us what the plan.  I couldn’t have been further away from the truth.  He said “I’m sorry to tell you, Toby has a very serious genetic condition which is life-limiting.”  My heart sunk.  I  broke down.  I can’t remember much from that moment other than finding out my baby would only live to the age of around two years old. My beautiful baby boy was going to be taken from us. After somehow trying to get my head around the news, we had to tell family which was the hardest thing we have ever had to do. Toby spent another 8 days in hospital for one final test along with examining certain parts of his body,  making sure everything else was working as it should.  Toby came home with a feeding tube to ensure he received his required milk and to build his strength up to fight for as long as possible. However, on the end it was the only feeding option. He lost the ability to swallow.
Not long after Toby began to pick up lots of infections and was in and out of the hospital most of the time. He eventually came home on oxygen and while our home stays got shorter and shorter Toby got weaker and weaker. He sadly picked up the flu and was on life support with no improvement after 10 days.  We made the hardest decision to end his life support and let his little body stop fighting. Toby passed away at age 16months & 9 days old.