Galactosemia is not included among the disorders newborns are routinely screened for in Ontario and because of this babies continue to be diagnosed late or in some cases die. Consequently, I think that I am fortunate to have lived to share my story and because of this I believe it is my duty to raise awareness of Galactosemia . I hope my story will assist parents who may have a baby with Galactosemia, and that it may inspire individuals who live their lives with a rare disorder.

I was diagnosed at six weeks of age, if there had been newborn screening I could have been diagnosed much sooner. My confused parents had to wait for a diagnosis while I remained a helpless baby with tubes throughout my body, an enlarged liver, a dense cataract and clinging to life. Doctors seemed puzzled as to why I was vomiting after feedings and had failure to thrive. The lack of a Galactosemia newborn screening test almost cost me my life, our family almost destroyed for a simple heel prick. I had been the first infant in ten years at the hospital with Galactosemia. I can't help but wonder how many babies died within those ten years. As a parent it saddens me to think what my young parents went through, watching their first born deteriorate in front of them. I was eventually sent home, my parents were given a sample of Soya milk and a piece of paper with an explanation of my condition, no more than a paragraph long. How lonely they must have felt.

During the years I had cataracts in both eyes due to a galactose accumulation. School was the cause of immense frustration while growing up; I disliked school, I struggled to learn, at my own pace. I was a very lonely child who never met another Galactosemic, in fact to my understanding I was the only person in the world with this disorder. I went through my early childhood years hating myself for being different, not understanding why I wasn’t allowed to eat many foods that other kids took for granted. When I reached my teenaged years I rebelled I had numerous behavioral issues, using the “bad” foods as an escape for my inner loneliness. Not knowing the harm that consuming the “bad” foods was causing.

I grew older and in a sense more miserable with each day passing. I drank a lot of my early adulthood away, not a good idea with having a liver disease, call it masking the pain, call it escaping reality and I continued to follow a path that clearly lead to nowhere fast. I ate the foods that contained lactose and high galactose contents. Still not fully knowing the damage these toxic ingredients would cause. It was a lack of information that kept me from keeping my body safe and healthy.

I grew into my mid adult life where I moved from my hometown to start college. Once I moved I met a man who would change my life from that point onward. His Mother was a nurse and couldn’t understand why my stomach would hurt after eating lactose; she found it terribly strange how I had no answers to why I couldn’t eat certain foods. If it wasn’t lactose intolerance then what could it be? She referred me to a geneticist at the local hospital. It was at that appointment that I learned to my shock and disbelief that I was living with Galactosemia and what it entails. I had no clue. It was much more complex then not being able to eat certain foods. I am now on a stricter diet and since then I have had two surgeries for my cataracts, my lens’s have now been removed and replaced with a plastic lens, my newfound eyesight has enabled me to learn again, to use my eyesight and not take it for granted, I can now see the world in a new set of eyes, I can live again.

Since then I have made a wonderful network of friends in the Galactosemia community, I have traveled to many States in the US to attend conferences, I have even spoken in front of hundreds of people about “my story.” I can honestly say that this disease has made me a better person. It has made my husband a better person as he stuck behind me during this tiring learning process, encouraging me to give back to those in need of answers, to those who feel as I once did - lonely.

It was at that genetics appointment that I discovered as a common side effect of Galactosemia Ovarian failure has been documented in 85% of females. This would explain why I had very few menstrual cycles in my life thus I was under the impression I would have POF (Premature Ovarian Failure). I remember going to doctor appointments to find out why I don’t have monthly cycles and I remember the doctors asking me time and time again what Galactosemia is, frustrated and feeling lonely again I did my own research for the doctors. Before seeing a fertility specialist I tried four years for my son, listening to the stories by the specialists who knew of cases where Galactosemic females who could not conceive I continued to hope for the best and keep my head up high. Today I am happy to say that we now have a healthy one and a half year old. My son is a carrier for Galactosemia but that doesn’t let me get discouraged as I plan to teach him how to rise above and even though he may give his children Galactosemia I will give him the education he will need so he will never feel alone. I will teach my son that he is God sent and to honor his health and remind him that it could be worse, a lot worse. We are blessed that he is here and each day I look into his eyes I remind him that he truly is a miracle and my world has been so rich from him being in our lives. I know he will give hope to those who have been told that they can’t have children.

I do not wish for sympathy because I have Galactosemia I have turned it into an opportunity to help others who may have a child with Galactosemia. I see my Galactosemia as an opportunity to provide optimism in the years to come for other Galactosemics, specialists and most importantly for those in the public who were once unaware of Galactosemia. I believe that every human being is entitled to the information and research about this disorder. We should not be limited to what keeps us alive, no matter where we live.

I do not blame anyone for my Galactosemia, but I believe that it could have been easier for me if it were caught and treated by a single heel prick at birth. For this reason I will continue to advocate for expanded newborn screening for disorders like Galactosemia and to raise awareness for this rare and potentially fatal disorder. In the mean time I have to live with complications every single day for the rest of my life because of no mandatory newborn screening. It has been nearly 30 years of feeling alone, although I have now broken free of those chains it has been 30 years too long.

- Stacey Taylor, 28 with Classic Galactosemia, London, Ontario Canada

(Galactosemia is a rare genetic metabolic disorder that affects an Individual’s ability to properly digest galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose.
Normally, galactose is then converted into glucose by the enzyme GALT. In individuals with galactosemia, GALT activity is severely diminished. This can cause toxic levels of galactose to build up in the blood, resulting in enlarged liver, renal failure, cataracts, and brain damage. Without treatment, as many as 75% of infants with Galactosemia will die. Galactose is naturally made in the human body crucial for the brain; there is no way of controlling the naturally-made galactose.

There are two variants of the gene responsible for galactosemia. One variant causes so-called classic galactosemia, in which GALT activity is nearly zero and the most serious effects are prominent. The variant gene, responsible for Duarte galactosemia, causes GALT activity about half of normal levels.
Individuals with Duarte galactosemia may experience few or none of the serious effects of classic galactosemia. This is dependent on a number of factors, but most important is the amount of lactose and galactose in the diet. It is also possible for a person to have one each of the classic and Duarte genes, in which case GALT activity is intermediate.

Galactosemia is now routinely screened for in infants within the USA. Consequently, individuals may be diagnosed early. The most important treatment for Galactosemia is a carefully restricted diet. Until recently, it was thought that individuals who were diagnosed with galactosemia early and put on restricted diets could escape the negative effects entirely. Recent study has shown that this is not the case; many galactosemia patients diagnosed as infants show long-term effects such as learning disabilities.

Galactosemia should not be confused with lactose intolerance. Lactose Intolerant individuals may consume dairy products, although they will likely experience unpleasant abdominal symptoms; individuals with Galactosemia should not consume products containing lactose at all.
- Occurs 1 in every 60, 000 live births, people may have the Galactosemia gene and not realize it).