Our Stories

The following are posts by families of how their children were diagnosed. If you would like to submit a story for us to post please email it to us at janice_hughes@hotmail.com.

James's Story

James was born February 21, 2006 at MUMC Medical Center in Hamilton ON, Canada.

James was delivered by C-Section and by all accounts was a healthy 8lb 3 oz. baby at birth. We were in the hospital for 4 days after delivery during which time James seemed to be breastfeeding with no problems. Two days after we came home, he was throwing up everything he ate; it was bright yellow and this concerned us so we brought him back to our family doctor and then to the hospital.

When we got to the hospital James was diagnosed with a bladder infection. They thought this was the cause of his vomiting and put him on a 14-day course of antibiotics and IV fluids. As a precaution, they also asked me to go on a milk protein-free diet, since one of his violent vomits was after I had ingested a large amount of dairy products.

Several Gastro-Intestinal tests later, they determined he also had reflux and put him on another medication. They did a spinal tap, several blood tests, and ultrasounds of his head, liver, kidneys, and heart, all of which appeared normal.

A month after being in the hospital, James was still unable to hold down his food and his weight had dropped below 6 lbs. The doctors were stumped and my husband and I were getting very anxious. I probably should mention that they do not screen for Galactosemia at birth in Canada (that is changing as of next year).

The doctors began to think that Cystic Fibrosis was a strong possibility. In the mean time, James had been on several types of elemental formulas (progestomil, nutramagin, alementum to name a few); but none worked except for isomil. They decided to put him on a feeding tube using my milk protein free breast milk and isomil as food. He still continued to vomit, but the weight loss slowed down.

On the fourth day of the feeding tube, James aspirated (swallowed fluid into his lungs). Upon ultrasound/x-ray examination they found James had fluid in his lungs and fluid (ascities) around the organs in his abdomen. This was taken as a sign of malnutrition. Because of the fluid, he developed two hernias and his testicles became painfully swollen. The doctors decided to operate the next day.

After the operation, things took a drastic turn for the worse. His incisions would not stop bleeding and when tested for his liver function they found his hemoglobin, coagulation factors and albumin levels were severely "out of whack". Within two days he was septic and ended up in ICU - his liver was failing.

We were greeted by a social worker and told to stay at the hospital over night. They even provided us with a room that belonged to a resident doctor. We were cautioned that he may be on a ventilator by morning and told to be prepared for him to go either way. Seven blood products were transfused and within hours, thankfully, he began to improve.

We were moved into a step-down ICU where our nutritionist recommended that we try another type of formula called Neocate. It was a "god" send. In the mean time, more doctors were brought in including infectious diseases (he had a 2nd bladder infection and an e-coli infection), metabolic, genetics, gastro-intestinal, cardiology, and three more pediatricians. In the end, metabolic made the initial diagnosis of galactosemia and genetics confirmed that it was a heterozygous allele mutation responsible for the galactosemia.

We were in the hospital for another two weeks while the neocate "kicked". He had to receive albumin continually and lasix treatments as well as oxygen at night, but the ascites was going down and his weight was coming up!!!!!

On April 19th, James finally came home and we couldn't have been happier. Although the experience was quite scary, especially as first time parents, the love and support we received from so many of our friends and family left us with some fond memories.

James is doing quite well these days and is developing at the normal rate. He has a great personality and we are so thankful for everything everyone did.

We look forward to reading other stories and learning more ourselves.

Submitt by:

Janice Hughes, President of CFG
Canada

Nicholas' Story

Nicholas was born April 20, 1993 at Credit Valley Hospital in Mississauga, Ontario, Canada. He was born a healthy baby. However, after I nursed him, he became jaundiced. His bilirubin was very high so he was put in an isolet under lights to clear up his jaundice. He would get a little better so I was able to nurse again. His bilirubin rose to an abnormal level and he became dehydrated. He needed an IV that was put in his head. We were not prepared at all for that. The doctors did not know what was wrong with him and we were doing all kinds of tests.

Finally, a brilliant doctor named James McKinnon, discovered that Nicholas might have Galactosemia. After tests confirmed this, he was put on soya formula and started to thrive. It took 8 days to confirm this because hospitals in Canada did not check for Galactosemia during newborn screening.

Nicholas was sent to the Hospital for Sick Children in Toronto for observation. A genetic/metabolic doctor specializing in Galactosemia examined Nicholas. Her name is Dr. Annette Feigenbaum and she helped us immensely through the whole genetic counseling process as well as giving us information about Galactosemia and informing us about PGC. After 5 days at the hospital, he went back to the other hospital for a few days and was able to finally come home. It was Mother's Day and I was jubilant to finally bring my healthy baby home. Nicholas had some liver damage, but an infant's liver repairs itself and his did.

He was checked by a pediatrician regularly and continued to thrive on the soya formula, Prosobee. The whole experience was very frightening, but we were thankful that his genetic condition could be controlled through diet. He developed at a normal rate and began to gain weight and thrive slowly. Today, he is a healthy 13-year-old boy who is musically talented, athletic and has a great sense of humor. We are very proud of him because we know that he is determined to excel in his talents and does not let health problems get in his way.

Submitted by:

Teresa
Canada

Stacy's Story

Hello, I would like to introduce myself and contribute my story to the website.

I was born in London, Ontario in 1977. I was quite ill as a newborn, when my parents took me home I began to throw up my Mother's breastmilk, I was taken into the hospital and sent home again, I began to get more ill and eventually I was refusing my Mother's milk and we were back in the hospital, this occurred several times and I was sent home each time. At this time I had been diagnosed with jaundice and brain damage my parents were told I would not live a normal independent life. It was noted that because I was fed milk for nearly two months a cataract in my left eye had developed, and as you can imagine at this point I was now quite sick, the doctors scrambled to find a diagnosis. At this time I was diagnosed with Classic Galactosemia, other than the diagnosis there was very little information my parents were given, I was sent home again and advised only to drink soy bean milk.

I grew up not knowing what Galactosemia was, I grew up not knowing anybody with Galactosemia and at times even today I recall that empty feeling of being alone. Throughout the years I was told only to avoid milk and if I ate a dairy product "It would build up and I would get sick". I never understood that and I never felt sick after eating dairy so I continued to eat it not knowing the harmful effects it was doing to me. As a result a second cataract had formed over the years of galactose and lactose consumption. I felt alienated as a child, my younger sister did not have Galactosemia and seemed to excel in her schooling whereas I was showing signs of developmental delays and behavioral problems.

In 1999 at 22 years of age I moved from my hometown of Oshawa Ontario and lived in London Ontario it was only then that I saw the genetics team at the London Health Sciences Center who were a wealth of information on Galactosemia. I contacted the Parents of Galactosemic Children organization and have been a guest speaker for conferences throughout the United States. I was for the first time in my life encircled with people who could relate to me and they knew exactly where I was coming from. I assisted in the planning of the metabolic conference for the London Health Sciences Centre hospital and I fundraise for Galactosemia as well as advocate for to those who have not yet heard of Galactosemia. I was referred to a dietician who helped me learn and live with the Galactosemia diet. I was referred to a surgeon who recommended I get the cataract surgeries. After the surgeries my new lenses enabled me to see the world in a whole new light. It also gave me the confidence to complete College and learning was something that I wanted to do rather than just something I had to do. Since then I have been on a stricter diet only moderating my galactose and lactose intake but avoiding milk and cheese, chocolate, milk products and dairy all together. With the changing times milk supplements such as soy have helped tremendously. I read all the food labels and I am definitely more cautious of the foods that I eat.

I have always had irregular or no menstrual cycles making it difficult to conceive a child. My family doctor referred my husband and I to a fertility specialist who insisted that without modern medicine it would be nearly impossible that I would conceive a child on my own but we always believed in the natural method and we opted to try to make our child naturally. After four years of being on a frustrating and heart breaking roller coaster we decided to change our way of thinking and aside from prayers and a strong belief in spirituality in 2003 we received the news that my husband and I would have a child. Aside from having gestational diabetes which was treated by diet and daily insulin injections I was advised not to breast-feed as the milk production could potentially harm my body causing long term complications. Our son was born 9.5 oz. he is a carrier for Galactosemia and a healthy child. Each time I hear his laugh or hear him speak I can't help but be reminded of how much of a blessing he is, not only to our family but to the Galactosemia network. He is hope for others who have been told that it is impossible for females with Galactosemia to conceive, he is the reason I never gave up on trying for him, despite what we are told he is proof that sometimes the impossible is possible.

Today I am a healthy woman and have suffered no other complications due to having Classic Galactosemia. I live a normal life, I own my own business as a photographer and I live an independent life. As far as the Galactosemic diet goes I do follow a stricter diet now that I have more knowledge of this disorder and I want to take every precaution to ensure that I maintain my health for the years to come.

Submitted by:

Stacy Taylor-Le Roux
Bowmanville, Ontario, Canada

Ema's Story

Ema Brown born in Stratford General Hospital in Stratford ON

Ema was delivered by C-section on August 9, 2005 after my doctor noticed an irregular heartbeat after 35 weeks. Everything seemed fine until the next day. First thing the next morning the doctor came into the room and informed us that Ema would be transferred to the Children’s Hospital of Southwestern Ontario in London as soon as they could get it arranged. We were told that there was something wrong with her stomach and when they pricked her heal after birth it still had not stopped bleeding.

We spent four weeks with Ema getting sicker and the doctors not knowing what to test for next. Awe had a few doctors say that they didn’t know what was wrong but they didn’t believe we would ever bring Ema home.

Finally in September they informed us that they were going to have to transfer her to Toronto Sick Kids Hospital. The nurses and doctors prepared her to go on the helicopter and gave us maps and information for us to drive there. As they were getting Ema ready for the helicopter a new doctor came in Dr. Paul Atkison (our new hero) and asked to see her. He said he had heard about Ema around the hospital and thought he might know what was wrong with Ema. He cancelled the transfer and said a word that we will never forget “ Galactosemia”. We didn’t know what it was but at least we had diagnoses.

They moved Ema back up to the 7th floor nursery where she had been since arriving on August 10, 2005.The nurses then put Ema on a galactose free diet but the damage was done. The next 3 weeks was a blur with tests and information. Ema meanwhile was getting yellower from the bilirubin increasing in her system. In October, Dr.Paul said Ema was going to need a liver transplant and was put on the donor list. The galactosemia had destroyed hers and there was no way it was going to repair its self.

That started our seemed like longest wait. They started giving Ema blood, plasma and platelet transfusions everyday to keep her going. My husband Bob and our 5 year old son, Ian and I would travel to London from Exeter everyday to be with Ema. We tried to keep Ian’s schedule normal but it was hard. Ian didn’t understand why His sister couldn’t come home. When at home every time the phone rang we jumped hoping it was the hospital saying they had found a liver for Ema.

Our normal routine started in October, we would wake up Bob would go to work. (He still had to earn a living). I would take Ian to school the days he would go and I would go to the hospital. I would spend the day at the hospital looking after Ema then would have to leave to go get Ian at daycare which would pick him up after school. We would go home and eat supper with Bob and most days we would head back into the hospital so Bob and Ian could see Ema. Then we get home in time to go to bed then start again the next day. This went on till December 29, 2005 we got the call. They had a liver for Ema.
We raced to the hospital and they did the transplant. Twelve hours later she was out of surgery and in the PCCU.

By the next day it was amazing her yellow had started to fade already and was starting to look healthy again. We spent two in the PCCU and spent 2 months in the children’s unit upstairs until we could take her home.

On April 3, 2006 Ema got to go home for the first time. Ema is now in fairly good health aside from the odd cold and flu. She eats a galactose free diet. Aside form being behind developmentally she is healthy and happy.

When we named Ema I choose the one “m’ spelling because I knew she was going to be a special baby but I didn’t realize at the time just how special. Ema is our miracle baby and we will never forget that.

Sincerely
Jennifer Brown