Our Stories

Holly

Our beautiful daughter Holly was born at 8:15am on Tuesday 22nd June 2010 (right on her due date). For four days we were in a blur of happiness. We had been home for 24 hours when we had a call from the hospital about the results of Holly’s heel prick test. We were told there was something not right with the result and that she needed to be re-tested the next day. We took her back to the hospital in the morning and at 2pm we received a call from the head of the metabolic team confirming that she did have galactosaemia.

We were told to stop breastfeeding and go and buy a soy formula. We remember walking around the chemist in complete shock looking for a can of formula and that was just the start. Holly didn’t take well to being bottle-fed and within another 24 hours she was back in hospital being tube fed, as she had lost over 13% of her birth weight. We visited our little girl in hospital every day for a week and a half before they allowed us to take her home with a feeding tube.

It took another 2 weeks until Holly was drinking enough for the tube to be removed. Holly continued to struggle to gain weight for another month until we started to see good weight gain. She is still a small baby for her age but has improved from being on the 3rd percentile to now the 25th percentile on the weight scale. Holly is a very happy 1 year old and is showing no signs of development delays.

We don’t know what the future holds for Holly, but we do know that we want to give her every opportunity to live a happy and fulfilling life. We hope the AGSN will be able to help Holly and other children with galactosaemia.

Milla

On 14th September 2010, we welcomed our beautiful daughter Milla into our family, a little sister for our 2 year old son. We were instantly smitten with her. She was delivered naturally with no complications and began breastfeeding straight away. On day 3 we took her home and she appeared to be a healthy little girl. The doctors said she was slightly jaundiced but it was nothing to worry about.

As the week progressed we noticed she was sleeping most of the day and only waking for 5 minute breastfeeds. We didn’t think too much of it as newborns can sleep quite a bit. Then the vomiting started. At first it sounded like she was choking. She would vomit anytime of the day or night and not always after a feed. It was so unpredictable, my husband and I were constantly on edge. We couldn’t leave her for a minute.

When Milla was one week old we took her to the GP to have her weighed and checked over. We were told that the vomiting was probably just her immature digestive system trying to adjust and the jaundice should clear up soon. Alarmingly though, she had not even regained her birth weight. That afternoon we received a call from the Paediatrician. He had just received the results from the heel prick test that had been taken a few days after Milla’s birth. Instantly, our world was turned upside down.

I have never known such fear and panic. I was instructed to immediately cease breastfeeding and take Milla to the nearest clinic to have a blood test. Trying to get blood from a dehydrated, one week old baby with an anxious mother hovering over her proved to be quite a difficult task. So after many hours and visits to several clinics we finally got the blood work they needed. The results were not good. Milla was admitted to the Mater Children’s Hospital immediately. At this stage we still had no idea what “galactosemia” was or what it meant for Milla.

The immediate focus was to stabilise our little girl. We were told that her liver was in a terrible condition, she was dehydrated and her body was unable to clot blood. Milla was given a saline drip and a blood plasma transfusion. She woke regularly throughout that night, trying to vomit every 15 minutes. Looking back, that night feels like a nightmare… everything happened so quickly.

Morning broke and Milla was given her first Soy Formula bottle. She loved it. The Paediatrician and Metabolic Doctor were both in to see her first thing. We will be forever grateful for their professionalism and genuine care and concern for Milla’s health. We are truly blessed to have such an amazing medical team overseeing Milla’s ongoing care. Milla’s health rapidly improved and she was sent home again after 3 days in hospital.

Almost 1 year down the road we have a beautiful healthy daughter. Milla is such a blessing to our little family. She is reaching all her milestones well and is such a happy and vibrant little girl. It has been a steep learning curve for us but we’ve had a lot of support from family, friends and medical specialists. We are so grateful to have our little princess.

Anna

My name is Anna and I am 30 years old and have classical galactosemia.  I got sick on day 2 and was in intensive care by day 4 in the hospital. I recovered on soy milk feeding.

When I was at school, the teacher gave my mum a list of the birthdays of the children in my class that way I was prepared so I could have something as well so I did not get left out.  Mum also gave the teacher some lollies I could have so if the child had some cake, I could have lollies instead. When I was in year 4 at school, my mum wrote a children’s book called “Anna’s Diet” so that my class mates would understand more about special diets and so I would feel more included. Also, if I got invited to a classmates birthday party, I would bring my own food I could have in a basket so I felt included and I could have my own treats.

I went to speech therapy when I was in year 4 for about 4 years. The speech therapist never read the material my mum gave about galactosemia and they mainly focussed on reading comprehension. Later on, the problem was identified that I don’t open my mouth wide enough when I speak but this was found out very late. I did have another go of speech therapy to rectify this problem but for me it is very difficult for me to open my mouth wide and speak quickly at the same time. The best advice i would give to parents is to find out the problems in speech early and find a good speech therapist who wants to help with your goals.

I also got special help at school in tutoring with subjects- maths and science. I needed extra help in these complex areas but later on in school when I could choose what I wanted to study, I chose the arts subjects which i found interesting such as history, business studies, computing and art.

When I was in year 10 at school I started feeling different and isolated from some of my classmates and some girls were not very nice to me by mimicking my speech or leaving me out. I also felt sad when I was in year 11 that I couldn’t have children, I became isolated and depressed and was put on antidepressant medication. I left school at the end of year 11 and completed a tafe child care course, then I finished off my year 12 at Marden senior college which I liked and the environment was adult and accepting. After that i did a floristry course and also an aged care course at tafe. Even though I completed them, I did not get any employment in these areas.

I went to an employment agency to help me find work and I found work in a cookie wholesalers. I enjoyed the work and it kept me busy. After 5 years of working there, I wanted a change of occupation and found a job in the gym I go to as a housekeeper. When looking for work in an employment agency i recommend you choose a case worker who has energy and drive to advise and help you get a job otherwise they waste your time.

The help and support of my family has helped a lot, making sure I am keeping busy and doing things so I am always distracted with things to do. Also, I make sure I don’t think of sad things at night time it seems to be so much worse. Mum and dad have helped me to be independent I live by myself, with the help of mum and dad they bought me a house and I live with my dog. Cognitive behavioural therapy has helped the way I think about my life with galactosemia, sometimes I blame myself for having this rare disease and cognitive behavioural therapy helps me challenge these negative thoughts and makes me feel better about myself and life.

I have also been a member of a social group called rotaract, where we do community service. I am currently president and I have made lots of friends through this and I love volunteering in the nursing home and doing charity work. I like making a difference and helping people. Another thing that has helped me is facebook I have made friends with other people with galactosemia in different countries around the world, particularly in America. I attended the conference in 2010, and I loved being around people who understood what it’s like to live with galactosemia. One thing I have identified with galactosemics personality they are very sensitive to other people’s feelings, shy, caring and the nicest people to be around. To me they are my brothers and sisters who understand what it’s like to live with the disease.

It is like looking for a needle in a haystack for someone with galactosemia, and I do feel lonely in this world living with this rare disease. I hope that one day I will meet someone special and marry, but at this time I am in doubt it will ever happen as I only have a close group of friends and don’t socialise a lot out of my usual circle of friends.  I feel sad I can’t have children of my own and I wished that my mum could have donated her eggs to me but we never did think of this issue at the time and now it is too late. Of course I would love the baby no matter what, but coming from mum would have meant a lot more to me as it would have some of my dna in it, instead of a strangers it is a very personal and special thing that would have meant a lot to me.

Galactosemia is part of who I am and will always be and I choose to keep my head held high and be positive instead of thinking about the bad things and I choose to keep healthy and well by eating right and going to the gym and socialising with my friends. I am grateful I am well and healthy and independent.

I hope that one day there will be a cure for galactosemia, but I know it’s a long way off and is a very complex disease. Someone wise once wrote “the most beautiful people we have known are those who have known defeat, known suffering, known struggle, known loss and have found their way out of their depths. These people have an appreciation, sensitivity and an understanding of life that fills them with compassion, gentleness, and a deep loving concern for others”

Thankyou