Running Toward a Cure to Galactosemia

Galactosemia is that very rare congenital disease in which lactose is successfully digested into glucose and galactose but the galactose is never metabolized into more glucose. Instead it remains in the bloodstream and can eventually cause liver failure. The only remedy is to place the child on a strict lactose-free diet for life.

One such child is Sarah Southard of Wichita Falls, TX, whose parents have started an annual fundraiser toward research called Sarah's Cure.

This year all proceeds from the Wise Tri Triathlon will go to Sarah's Cure. You can read about it in an article by Jessica Langdon in the Wichita Falls TimesRecordNews.

For more about Sarah's Cure and about galactosemia, check out Parents of Galactosemic Children, Inc. (PGC).

Galactosemia, the Most Serious Lactose Problem

Lactose is what's called a disaccharide, a complex sugar made out of two simpler sugars, in this case glucose and galactose. Lactose intolerance occurs when the body doesn't make sufficient lactase, the enzyme that splits lactose into the simpler, and therefore digestible, sugars.

Glucose is the primary energy source for the body. All carbohydrates digest down to glucose and we must maintain a supply of it to live even for a very short time. There's really no such thing as a glucose problem.

What about galactose? Well, galactose is a carbohydrate and the body will convert galactose to glucose shortly after it is absorbed into the intestines. If this doesn't happen, a variety of awful symptoms appear. These appear much more slowly than a glucose problem, however.

Occasionally, therefore, a baby is born with the inability to convert galactose and lives long enough for the doctors to figure out the problem. This is called galactosemia. It's pretty rare, which is why I talk about so seldom. I last did so in 2007, with the posts Galactosemia: the Other Lactose Problem and Sarah's Cure about a nonprofit organization to fund research for a cure.

I was reminded of my need to periodically mention galactosemia by a very good article on the subject by Dr Vandana Rao on DNA India.com.

Dr Rao said that:

Some of the common symptoms are jaundice, vomiting, poor feeding (baby refusing to drink milk-containing formula), poor weight gain, lethargy, irritability and convulsions.

Infants with Galactosemia will develop most of the above symptoms within days of drinking milk.

Milk includes both breastmilk and a milk-containing formula, which means that virtually every baby in the world with galactosemia will start showing symptoms within days of birth. Doctors today will recognize the problem and move the infant onto a nondairy formula immediately. Lactose must be avoided for life.

Now for a complaint. I keep mentioning that the people who write articles for newspapers or magazines, or just about any publication that they don't control, normally never also write the headline for that article. That is the job of an editor.

Now if you were an editor and you read that list of symptoms above, what title would you put onto this article? Could any of you be so thoroughly dense as to title it "Lethargic? It could be Galactosemia"?

Lethargic? Who among us not named Richard Simmons isn't lethargic at times? Wouldn't that word draw you to the article? Wouldn't you think that you yourself might be suffering from galactosemia?

You aren't. I guarantee that no adult suddenly stumbles upon the knowledge of being galactosemic. You know it from before you can talk or not at all, because you simply don't live long enough to talk if you don't find it out.

That is probably the most boneheaded headline I have ever come across, and you regular readers out there know that I complain about headlines with bile-spewing frequency.

My apologies to Dr Rao for having her excellent article spoiled by some ignorant clod. You deserved better.

For more information on galactosemia, go to Parents of Galactosemic Children Inc.

Sarah's Cure

I've written about Galactosemia before.

People with galactosemia digest lactose properly, splitting it into the simple sugars glucose and galactose, but they lack the enzyme that converts the galactose into more glucose. The galactose accumulates in the bloodstream and effectively poisons the body. This otherwise completely harmless sugar can lead to brain damage, blindness and death through liver failure. Only one in 80,000 babies are born with this condition.

Sarah Southard of Texas is another little girl with this lifelong problem. Because it is so rare, there has been little research and no possibility of a cure in sight. Her family wants to change that.

An article by Jessica Langdon in the Wichita Falls TimesRecordNews reports that for the second year they're staging a fundraiser called "Sarah's Cure."

For the second year in a row, the Southards are inviting the North Texas community to help Sarah — and all children who have Galactosemia — during an October Saturday filled with fun and Texas music in Decatur.

The event is called “Sarah’s Cure,” and this year, it’s a project of a group the Southards spearheaded — a nonprofit organization called Galactosemic Families of the Southern States. Funds will go to the national group, Parents of Galactosemic Children Inc., to help fuel research.

For more information:

Parents of Galactosemic Children Inc.

Parents of Galactosemic Children, Inc. (PGC) is a national, non-profit, volunteer organization whose mission is to provide information, support, and networking opportunities to families affected by galactosemia.

Galactosemic Families of the Southern States.

Galactosemic Families of the Southern States is a non-profit, volunteer organization that was created by parents just like you. We are a support system for families in Texas, Oklahoma, Arkansas and Louisiana who live with galactosemia everyday.

Galactosemia: the Other Lactose Problem

I maintain this blog for anybody and everybody who wants to remove or reduce lactose in their lives. That covers a lot of territory.

One serious problem I rarely mention because it itself is so rare is galactosemia.

Lactose is a disaccharide, a complex sugar made up of two simple sugars, glucose and galactose. Digestion is literally the splitting of lactose into the two simpler sugars (with the addition of a water molecule, a process known as hydrolysis). The galactose and glucose then enter the bloodstream where the galactose is converted in more glucose, the basic power source of the body.

People with galactosemia digest lactose properly, but they lack the enzyme that converts the galactose. It accumulates in the bloodstream and effectively poisons the body. This otherwise completely harmless sugar can lead to brain damage, blindness and death through liver failure.

Galactosemia is a congenital disorder. It cannot be contracted, but always is present from birth. It must be diagnosed quickly, because breastfeeding or formula feeding with cow's milk-based formulas is deadly.

An English mother and daughter went through this ordeal, according to an article in This Is London.

Like every new mother, Tracey Cooper was determined to give her baby the best start in life.

When she brought her healthy 7lb 8oz daughter Dorothy home from hospital 24 hours after giving birth, she soon settled into a breast-feeding routine.

Everything seemed fine - until the ninth day, when the little girl fell into a deep sleep from which she could not be roused.

...

But it took ten doctors in three hospitals a further six days to diagnose that she had a potentially lethal allergy - to her mother's milk.

Dorothy had galactosaemia, an extremely rare condition causing a violent adverse reaction to lactose, which affects just one in 45,000 babies in Britain.

Instead of helping her grow strong, her mother's milk had been poisoning her, causing her liver to fail.

...

The infant was transferred to a surgical unit at Farnborough where she had so many blood tests taken that her veins collapsed.

After 48 hours, the family were moved to a specialist liver unit at King's College Hospital when her liver started to fail.

Finally, after being seen by a further five doctors and losing 14 per cent of her body weight, the problem was spotted and Dorothy was placed on lactose-free bottle milk.

Allergy is technically the wrong word. The immune system is in no way involved. Enzyme deficiency is better.

After all that, the cure was extremely simple and straightforward:

Now a month on, Miss Cooper and her partner have been able to take their seven-week-old daughter home after she made a full recovery. She is being fed a soya-based milk free from lactose.

Only one birth in 45,000 in Britain is galactosemic. I'm not sure that should lift the blame on the doctors who failed to make the diagnosis. Since there were 669,531 births in 2006 in England and Wales, you would expect about 15 galactosemic babies to be born that year and every year. Surely that's enough for fifteen[!] doctors to have enough experience to figure it out.

However, the rarity of galactosemia is a serious issue. As with congenital lactose intolerance the cure has to be provided quickly. Good thing milk alternative formulas are so prevalent these days.

All the best to little Dorothy. She has a milk-free life ahead of her, which is never easy. At least she'll survive to see it.