Sienna from the UK
On the 16th September 2009 we were in the hospital with my son who was suffering from breathing issues. At 16.30 my phone rang and it was my mum. “Stu, you need to speak to the optician”. My mum had taken our then 5-year-old daughter Sienna to Specsavers for a routine eye exam. She had been squinting a lot and sitting right in front of the screen to watch TV so we thought she might need glasses. The Optician said that Sienna had dislocated lenses in her eyes and it was at that moment our lives changed forever. Left alone with “Google”, we went down a rabbit hole of what dislocated lenses could mean. We realised that it meant an operation, so we researched the leading eye surgeons in England where we found a specialist in Bristol. The next week we made an appointment to go and see her for a consultation and she said that given that dislocated lenses usually meant Marfan Syndrome, Sienna would need to have a heart check up to make sure her heart was ok to undergo the anaesthetic - yet more worry!!! When we saw the heart specialist the following week, he said that her heart was fine, but wanted to do another test as at the very back of his mind, he had a nagging suspicion that he wanted to rule out. We later learned that the "nagging suspicion" was Homocystinuria.
The following week we had a call to confirm that the sample he had taken suggested that it was indeed HCU and that Sienna would need another blood test (the first of lots over the coming years!!) carried out to confirm the potential diagnosis. We would also have to have her younger brother tested to see if he had it too, which of course caused even more worry.
Then in December I had a call from Dr. Germaine Pierre at Bristol Childrens Hospital to confirm that Sienna’s blood test had confirmed the diagosis of HCU, whilst our son’s test showed a negative result. Our local specialist hospital, Bristol, was a 400 mile round trip for us from home, and I’ve lost track of how many visits we had to make there and back over the years. Whilst we waited for Dr. Pierre's confirmation, Sienna had to have her eye operations. Once Sienna was under her first anaesthetic, I remember feeling completely helpless and all the bottled up emotions of the past few weeks came out and I recall just asking why this was happening to our little girl.
Thankfully the operations were a success and I remember walking with Sienna whilst she was holding her mum’s hand and staring at the back of it. I asked her what she was looking at and she said "the dots". I gathered she meant it was the freckles on the skin that she could see and then realised that she had never seen life in detail before. Another really emotional moment!
As part of the lens removal operation, Sienna had contact lenses put in and whilst it was great that she could see clearly, they definitely caused some issues! Whilst in hospital having a lens replaced, Sienna wouldn’t allow them to do it and some assistants forcibly held her so it could be done.
I remember her screaming as they tried for what was only a few seconds but felt like forever to remove it. I was just about to tell them to stop when they got it out, but she now still can’t allow anyone near her eyes and has been diagnosed with PTSD as a result. It’s a similar thing with needles from all the blood tests she has had and remained a major issue recently with her having her Covid Vaccines - taking about 30 minutes on each occasion before she would let them inject her.
As a parent, the most difficult thing was just how helpless we were with it all. Our little girl had to have all of these surgeries, tests, exams and there was nothing we could do. It didn’t help that there was no support or other people that we could really speak to and we felt cut off, isolated and alone. I think however that this gave us some real internal strength and I found over the coming years that we had to be a very strong (and loud!!) voice in advocacy for Sienna both medically and educationally.
We have certainly had a few arguments in getting the best we can for her and I recall telling a doctor that Sienna may be their patient but she is my daughter and I will always advocate for her and if that was a problem, then tough!
In a period of reflection I remember reframing my view on the diagnosis. Obviously we would not want Sienna to be diagnosed with HCU, but having read of the life expectancy undiagnosed, we soon realized that the diagnosis, treatment and medication ultimately saved her life. I wrote a note to that heart specialist who had had the "nagging suspicion" and told him that he had saved my daughter’s life and no words could express my thanks.
There have also been some amazing experiences that have happened as a result. We’ve met some great people from all over the world, experienced fantastic support from those with PKU on dietary advice and met and received care from extraordinarily dedicated professionals. Sienna was granted a "wish" by the Make-A-Wish foundation and she wanted to go to Disneyland and meet the Princesses. When I told her how Make-A-Wish works, Sienna wanted to raise some money as a thank you donation and set up a virtual lemonade stand. This got picked up by the local paper and eventually she ended up raising £1296.
As part of the paper’s story, we said how she wanted a Disney Princess dress but was too large to wear the children’s dresses that you could buy. It’s funny how the universe works as we were then contacted by a seamstress who offered to make Sienna a custom dress to wear to Disneyland - an amazing gesture and Cinderella did indeed go to the ball!
13 years ago, the diagnosis presented a very limited future, but over these years, the progress in medicine (and definitely in low protein food!) has improved massively. I’m so glad that they were able to find a replacement for the HCU coolers - those sickly orange drinks. I remember tasting them at the time she first got them and I think I can still taste that horribleness today! I don’t know how she managed them for all those years.
I am so proud of Sienna and how she has, and continues to, just get on with it. She’s always smiling despite all the difficulties and always looks at what she can do instead of what she can’t. I am not sure if it’s irony, coincidence or a bit of both, but on 16th September 2022 - 13 years to the exact day of that fateful optician’s trip - we dropped Sienna off at University to start the next chapter in her life - studying for a degree in Musical Theatre.
Who knows what the future has in store but if I think back to 2009, I would never have thought that in 13 years she would be off to University, but here we are. I can only imagine what fantastic things she will do in the next 13 years - I just hope they don’t go so fast as the last 13!
Whatever she does, she will always be my HCU hero and inspiration.