Guest Blog Post: My Little Tyrosinaemia Trooper – Living with a Rare Metabolic Condition

Being diagnosed with a rare condition can be very overwhelming and life can look very different after your diagnosis. Lorraine shares the story of her son’s diagnosis and their life with Tyrosineamia Type 1.

This is Harry, our little Tyrosineamia Trooper.

Harry (now aged 5) is the youngest of our three boys and was born with a rare metabolic condition called Tyrosineamia Type 1. It is in fact so rare that when Harry was born, he was only the second case with this condition in Ireland.

 

Harry made quite a dramatic entrance into the world and I truly believe this was a sign as to how he was going to live his life – with a difference. I enjoyed all of my pregnancies and this one was no different. I was about four days overdue and on this particular day, I wasn’t given any real warning signs that Harry’s arrival was imminent until my husband arrived home from work and within the space of a few minutes, I said to him, “we need to get to the hospital fast; the baby is on its way.” I will always remember the journey across the city during rush hour traffic. I was literally afraid to breathe for fear that Harry would arrive in the car. We arrived at the hospital and within six minutes, Harry was in my arms. To say he arrived at speed is an understatement. Harry did have low blood sugar at birth and the doctors felt that Harry was a little bit shocked by the speed of the birth, which may have caused the low blood sugar. Thankfully, they decided to keep an extra special eye on him after the traumatic birth and it was for this very reason that his Tyrosineamia was diagnosed. I will always be thankful for the way Harry entered into this world because if he didn’t arrive without all of the drama, his condition would not have been picked up and our life today could be quite different.

 

Harry’s condition means that he is missing an enzyme to break down protein and is life threatening if not managed. This means our little man will live his life taking medication every day to prevent damage to his brain, liver and kidneys. He will get his protein from a very carefully measured amount of low protein foods and his diet is mainly plant based. His main source of protein will be in synthetic form, which he will drink three to four times a day. He is closely monitored by the Metabolic Unit at Temple Street Children’s Hospital in Dublin, including a weekly analysis of bloods.

 

I can clearly remember the day that I received the call telling me that Harry had a rare condition and that I needed to return to the hospital immediately, as Harry would need to be transferred to the Metabolic Unit at Temple Street Children’s Hospital. The day was so bright and sunny, but my heart felt so heavy. I felt as if my world was crumbling around me and I had this huge fear of the unknown around Harry’s condition and what the future would hold. We spent a number of weeks at Temple Street Children’s Hospital with an amazing team of doctors and nurses, who looked after Harry so well. It was all very surreal: we had this beautiful baby boy, who looked so healthy on the outside, and I couldn’t actually believe that he had this rare medical condition on the inside that could potentially affect his brain, liver and kidneys and which is life threatening if not treated.

I think the biggest challenge for me as a mother was accepting that Harry would need lifelong medication to manage his condition. I did find this a huge struggle in the initial months but when I accepted that Harry’s condition was outside of my control and that managing his condition was within my control, I was in a much better position to really start caring for Harry.

 

Whilst I do worry about Harry’s condition, I have learned that part of the acceptance process is to acknowledge the emotions that I experience and realise that it’s okay to feel like this from time to time and that by embracing whatever challenge life throws at us, we become stronger.

 

I like to keep things very simple. What has helped me cope and accept Harry’s condition is only worrying about what I can control and realising that I can give him the best life possible by blending his condition into normal everyday family life, and living and enjoying each day at a time. Don’t worry about what the future may hold as we live in the here and now.

 

I believe that everybody’s life is packaged differently and children with rare medical conditions, or indeed any type of medical condition, are given to parents who have that inner strength to draw on to cope. I believe that Harry is a special gift that was given to us to show us how to lead the most fulfilling and uncomplicated life with lots of contentment and gratitude.

 

“Gratitude turns what we have into enough.” Anonymous

 

Thank you so much to Lorraine for sharing your story. If you would like to share your story, please contact Maggie on margaret@metabolicsupportuk.org or 0845 241 2173.