THANK YOU GOD for Newborn screening...I think we can all relate to that!! It has taken over forty years for me to actually meet a PKU person face to face...So the road has been long and lonely. Trying to fit in has made me feel like a square peg in a round hole most of my adult life!
That said I am so excited to be asked by the NSW PKU ASSOCIATION to tell my story. Thank you from the bottom of my heart! It’s taken me a long time to accept & embrace this PKU life for various reasons.
SO after my diagnosis at 5 days old I spent the first couple of years in and out of the local hospital trying to stabilise my phe levels...something that according to my medical notes they really did struggle with in those early days. Being 1970, information was scarce and most of the info was coming to us out the UK/USA, as were the products, as it still appears to be today!
During this time my parents separated, my poor mother being told "I would be retarded". As a result of the separation/divorce I was given to my father (John Inglis) and his parents (Peggy and Dave Inglis) and my uncle (David Inglis).
My nana "Peggy" was 62 yrs old at the time and was also looking after a disabled son as David had Muscular Dystrophy. I was about 18months old and I am grateful to her for so much. Nana was a Nurse and as such I believe this may have had a lot to do with why I was placed with my father.
This was a blessing in disguise, even though very difficult to be separated from my mother and siblings, a sister and two brothers. Something I pined for in the early days and I think added to my feelings of not fitting anywhere.
My memories of my young PKU life are broken but I do remember going to school and swapping sandwiches with my mates (Cheese and Peanut butter was my favourite), being teased by others for being different, not going to any birthday parties or even having a birthday cake until I was 10yrs old. When we went to cobb & co and I had my first ice cream birthday cake. I made some friends at school that I still have to this day, they knew of PKU but going off as teenager released me from the difficulties of being a teenager on the diet! I really loved my time off diet as I was able to really experience what being normal felt like, but it does make it that much harder today! What is normal anyway - "Just a setting on the dryer".
In these early days I began to feel different at about 7yrs old and used ask my dad why I was so different to others. I don’t remember his answer unfortunately. I spent one day a week at the hospital for blood monitoring in my younger years. I will never forget the hideous B12 needle I had to have in my bottom. I think I screamed the hospital down!!! I was quite a shy child and would hide behind my nanas skirt when my uncle Murray used to come to visit. Though I loved both music and dance and began dancing at 4yrs old, tap dancing actually and was doing so well that I was doing dance shows. I don’t remember much about them now though.
As a child I was often in the kitchen with nana watching her create all my special foods - which included bread and ice cream. Though I don’t know what she used. Although normal slices of bread were introduced to my diet fairly early on as I developed a taste for it and drs told my nana to factor it into my allowance each day. This explains why I struggle to eat the Lo Pro Breads today, though they have improved a huge amount. I was on the lophenac formula and again my memories are blocked I think due to how bad it actually was.
At 14yrs old - ON DRS/MEDICAL ADVICE - I commenced a more normal and relaxed diet and went mad, eating meat pies, donuts, sweets, milkshakes you name it all because I so wanted to be NORMAL! At this same time drs lectured me on the importance of "not getting Pregnant" and pushed home that my babies would be retarded (a fact that today has been disproved with good management). I remember thinking there and then "oh well, I just wont have children" such was my need to be on a more relaxed diet. Hence today, I am 43 yrs with no children. It is what it is and perhaps how it’s meant to be, but I do feel sad about that a times.
I always knew that I wasn’t meant to eat some of these things and when I got bad symptoms in the form of severe DIZZINESS I didnt tell anyone because I didn’t want to go back to the god awful Lo Protein diet...At no point had anyone educated me about possible brain damage. I was off diet for 5 yrs before I found out about "Diet for Life" when dad insisted we go to Auckland hospital for a check-up with a Dr Delahunt. This is the first time I was told about the new advice. There wasnt any reason given for it just that its the new practice. Of course I went home and tried to be better even though there were no obvious symptoms for me to do so at this time. I did this by eating only fruit -stewed or raw and I soon got bored with this and went back to my normal diet. It was just too hard! They gave me Maximum XP and it made me nauseated & dry retching became the norm and I found it so very hard to stomach.
Then in 1991 at 21yrs old (while off diet) came my first overseas travel to Italy, Europe and UK, I went with an older friend and her family to Italy and lived with an Italian family for over two months. We were not allowed to speak English - only Italian which was a great challenge but fun! I ate some pretty awesome foods while there and I am thankful for that wonderful experience...even if it contributed to the affects I get from PKU today. I actually ended up travelling Europe alone because my friend didn’t get the "Eurorail Ticket" as she promised and didn’t tell me until I was there. I did the hop on & off trains and stayed at multiple Youth Hostels. I met some wonderful people along the way! This ended when I fell off my mountain bike in Brugge Belgium and broke my left wrist - this was an issue for me because I am left handed!! I returned to NZ via Singapore where my dad was living at the time with the company he worked for.
In 1997 I moved with my then boyfriend to Melbourne with a view to again travel over to the UK - at this time I was ON DIET and saw Dorothy Francis at the RCH. I was often naughty and broke the diet. But was managing to keep phe - levels down usually between 600 - 800mmol/l, back then Tyrosine wasn’t checked and was never mentioned to me - something I have only been aware of in the last couple of years.
We landed in London in May of 1997 and lived and work in the theatre district working a live in bar job and experiencing the big city life. I really struggled with diet with the shift work and foods choices although I found boots pharmacy handy to have as they had some LO PRO products on the shelf which made things more accessible. I went to Great Ormond Street Hospital and had a couple of check-ups there. My diet became fairly relaxed though I did try to take the maximum XP...I hated that stuff, but I did my best to take it.
We did a fair bit of travel around Europe and one of the memories I have is driving with my brother Ben & Paula (his now wife) into the Czech Border knowing I had a huge stash of white powder in the van we were in, I had a letter in English explaining the Maximum xp but was so worried they would detain us if they found it and couldn’t read English well...my fears were unfounded as they let us through without any hassle, only because they didn’t see it...thank goodness!
We spent 18months living in the UK until we had a severe car accident in Portugal where we were hit from behind which caused the kombi we were travelling in to explode... that very nearly claimed both our lives but we got out with only minutes to spare. My boyfriend had third degree burns and we were in burns unit for over a month and we lost all our ID, money, clothes passport in the accident. We were strangers in a strange land with nothing but each other. It was a bizarre experience, but one I can say we survived, of course I also lost all the formula I was travelling with in the accident and I had a stash of extra supply at our flat in Swindon. A friend had to break into our apartment and get it sent to me, only problem was that in Portugal I had no money or ID, but the kind people of Portugal gave me a break and trusted me enough to give me the much needed formula. Getting a plate of vegetables in Portugal was fun as each time it would be a huge plate of green beans or something similar. I made do with what I could find and what the hotel would supply for me. The insurance company was no help at all. It took a month to get new passports from Rome and we finally returned to the UK. Thankfully in one piece.
In 1999 we returned back to NZ and a series of life changing events occurred for me - my father became ill with cancer and died and my nana also died one month later, the house I grew up in was sold and the boyfriend left me...through all these life challenges that we may all experience at one time or another in life...PKU was on the back burner, it wasn’t an issue because I gave it no thought and as such no huge power over me. Mainly because I had other pressing priorities in life that needed me. Though perhaps I do feel being "off diet" when these life changes occurred perhaps meant I didn’t deal with them as well as I could have, in fact I had a complete mental and emotional breakdown and was put onto "Aropax" to deal with the aftermath of the losses in my life. That said it was best thing I did as I am now not on anything and have made it through not only surviving PKU but also the hand that life deals to you when your not paying attention.
Once I overcame this life hurdle I enrolled into Bachelor of Nursing Degree at Taranaki in New Zealand and there I studied for three years (While ON DIET) until my graduation on the 5th May 2005. It was a challenging journey and an emotional rollercoaster at times but it had made me strong and gave me experiences that a lot may not comprehend. I love to take care the palliative patients and provide dignity and care at the end of life and it has taught me that "LIFE IS FOR LIVING" regardless of the challenge life presents be it PKU or something else we are all adaptable and can make choices in life by how we think about our problems - don’t get me wrong I have had my down days, days when I have a headache or dizziness so bad I cant move but I always get back up. Resilience is what is needed to continue to live the life we are born to regardless of the challenges we face.
Before the end of my training in New Zealand I was interviewed by phone and successful in obtaining a Graduate year at The Alfred Hospital in Melbourne - in Cystic Fibrosis and Respiratory medicine. Again another challenging year especially the night shifts - not sure that I was completely safe being off diet and doing those, however I made it through!
Now I work at a small rural hospital as a Casual RN and in all areas, acute/medical/Urgent Treatment, Aged Care (high/low) and some District Nursing, I have also been a Casual Clinical Educator with La Trobe University and then also with Wodonga Tafe employed to assist the ADF students gain their Enrolled Nurse Training.
I also have small home business (still establishing) called "Free spirit Therapies" in which I provide alternative health care such as relaxation massage, reiki, touch for health Kinesiology and Bush Flower Essences. I have recently enrolled in TAFE certificate so I can move into a teaching role at some point to move away from the shift work.
In the last three years being back on diet I have been more accepting than ever due to the symptoms I seem to be getting more regularly - mainly dizziness, headaches, feeling unbalanced (ataxia) and also having tremors/shaking on the inside feeling and feeling foggy/trouble remembering. It has all improved with diet but has not gone; perhaps hitting 40's may also play a part. I am now on BETTERMILK & RESTORE & a tyrosine supplement, which I can happily say I love and am tolerating much better after being on 4 formulas in the last 3 years trying to get one I can tolerate long term. My last levels were Phe 760 Tyrosine 75 and ratio 10. I felt very good and well with this test. I also really feel that the increased tyrosine had made a huge difference for me, especially mentally, as I was a bit depressed prior and feel it has been the difference since I have tried diets on and off but had never had the opportunity to have tyrosine levels address or monitor until recently. My initial Tyrosine was about 14. Its all very well to say you get it from the formula but if you aren’t getting it in, you wont get the benefits, hence the need for extra supplementation. I use Meditation and Yoga to manage symptoms with good effect. I love to meditate now!
I had a Brain MRI in May 2013 which shows "white matter changes and Atrophy" apparently consistent with being off diet long term. I spent two weeks crying over this and the clinic said "why are you upset"… umm go figure! How about more compassion and empathy from the clinics please. No one ever told me that would happen so while you expected it, I certainly didnt. I cant help feeling as a first generation PKUer that those of us advised to go off "It will be safe" have been used as the guinea pigs to see what may happen to us. It’s not a great feeling to realise this, where was their research to support such a move?
I have also recently developed a PKU PRESENTATION which I have presented my story and understanding of living with PKU for three groups in the last year - Beechworth Health Service (my work place), Standish Street Surgery (where my GP is) and more recently for Cortex Health Pharmaceuticals in Hampton who are currently bringing into Aussie the Cambrooke food products.
More recently On the 3rd of May 2014 I organised a PKU Awareness day and Fundraiser called "Playing for a PKU Cure" which involved a musician friend of mine "Tracey Hamilton" and others playing music from 3pm till 10:30pm to help me raise funds and awareness into PKU. I went to local businesses and advocated the PKU story and managed to get $800 worth of donations which I then raffled on the night. It was great night and $411.65 was raised and added to the online fundraiser at the everyday hero page created, the total now stands at $1,341.25. All proceeds going to Dr John Christodoulou at Westmead hospital researching a possible treatment/cure for PKU involving a probiotic...
My point here in telling my story so candidly is that "WE ARE HUMAN" first and foremost albeit wired a little differently to most and as such have to live a different way in which to be WELL. The sooner we are able to deal with this and accept this the easier it will become. What you resist persists! I know firsthand that acceptance is the key here both of yourself and situation but also of those around who love and support you. It’s our responsibility to live it the best way you can and have a QUALITY life while doing so.
Now, I don't and wont compromise myself anymore and have now had work issues because I wont do night shifts which has exacerbated my symptoms - discrimination is alive and well in the work place and as such has made my career suffer at the misconceptions of those who know no different or choose to turn their cheek through ignorance to this lifestyle - its more than a diet but a lifestyle. A need that is challenging non-the less to ourselves and others. Education is the way forward.
PKU = Patience, Kindness, Understanding is the acronym I use to highlight the things we all need to survive not only this world but the world of PKU with its blood tests, food lists, symptoms, social issues, diet adherence, misconceptions, tears, tantrums, smiles and love/hate. I hope your PKU experience is better than mine and as such are able to be grateful for the little things which in the end are the big things! LOVE YOURSELF enough to be kind, be well, be happy and smile, it could have been so much worse.
The PKU Journey is far from over and the best is yet to come, everyday I pray for a miracle cure and pray for the strength to make it through. I have made it this far & YOU WILL TOO!!
Blessings & Namaste
PKU survivor, advocate, educator and Nurse!