What is Classic Galactosemia?
Families come from all different backgrounds and not everyone has a medical background, basic education, or can read. As a nurse, it was always taught to me to understand how people learn. Literacy rates effect diet compliance. 43.0 million U.S. adults possess low literacy skills. Even with my medical knowledge it was a hard to understand and look up all the information for Classic Galactosemia. Then on top of it, reading labels and interpreting ingredients. There are 300,000 different labels for ingredients. Milk is not always labeled milk. I felt overwhelmed with interpreting information and reading labels. Don’t ever be afraid to ask questions!!! I am always still learning. Research is still discovering new things.
Medical Disclaimer: This is my experience, and some of my emotions and what we do as a family for our Classic Galactosemia child. Always consult with your medical team about treatment and diet for Classic Galactosemia. The contents of this website, such as text, graphics, images and other material are intended for informational and educational purposes only and not for the purpose of rendering medical advice. The contents of this website are not intended to substitute for professional medical advice, diagnosis or treatment. Although we take efforts to keep the medical information on our website updated, we cannot guarantee that the information on our website reflects the most up-to-date research.
Classic Galactosemia is a genetic disorder. Genes are the building blocks of your body. A genetic disorder means genes didn’t copy correctly. This is a permanent part of the person, it will not go away, or be out grown. The specific mutations(bad copies of instructions) are the following genes GALT, GALK1 and GALE. These mutations delete the body’s enzymes that break down galactose.
About 1 in 30,000 to 60,000 newborns are diagnosed each year.
The only treatment available as of right now is a dairy free diet.
Applied Therapies is in the process of testing a drug to help aid the breakdown of glalctose in the body. It is still years away from being available. Click here for more info on AT-007. They have a long way to go but so far it is hopeful.
Diagnosis is the biggest hurdle. Be grateful for a diagnosis. If you are in diagnosis limbo, waiting for a confirmation, treat your child as if it was positive. No milk, no breast feeding. Find a dairy free formula that works for you. We used Prosobee powder, but there are many other dairy free formulas. It is better to be safe than sorry later. Some damage is irriversable. My girl was without breast milk and her immunity was just fine. And if you are worried about the emotional part of breast feeding. I found that skin to skin helped me elevate the pain of not being able to breast feed. I felt very guilty about not being able to breast feed. This is a common emotion. Many women pump and freeze till a diagnosis is confirmed, and if positive donate their stored milk after. Here is one possible milk bank.
Without newborn screening, this rare genetic disorder increases morbidity(death). I do not want to scare you but many countries who are poor, do not have testing, and the babies do not make it. There are of few well developed countries that just started or still do not have new born Galactosemia screening. I am very grateful for our newborn screening system. I found the first few weeks of life were the most difficult. It is super scary, and emotional finding out your child has a genetic disorder. I was postpartum, with postpartum depression, and over the top emotional. I think my emotions made it hard to process information. Then when asking Drs, or researching, I found the information is confusing, or even outdated. You will get it, I promise. My first pediatric Dr had no clue what to do and sent us home with a very sick baby.
Most people when they first think of “milk allergy” they go straight to the ideas of lactose intolerance, or anaphylactic allergy. Galactosemia is a completely separate metabolic disorder. Metabolic means the breakdown of food for energy. Diabetes is a common metabolic disorder you may know. Diabetics cannot breakdown(metabolize) sugars. In Classic Galactosemia, they cannot breakdown/metabolize specific milk-sugars known as lactose and galactose. If consumed it builds up and becomes toxic for the body. The build up of galactose damages organs including the brain, eyes, liver, reproductive organs, and kidneys. Many with galactosemia will not have symptoms with an accidental ingestion of milk but that doesn’t mean it doesn’t do something to the body. If milk is taken over a period of days the body will start shutting down. For our daughter, she became critically ill and in PICU at 8 days old. She was so sick they would not tell me she would make it. Not everyone will have this experience but this is a common complication. Neonatal illness was reported in 79.8% of patients (Rubio-Gozalbo.)
Touching milk is not devastating like anaphylaxis for people with galactosemia. Our family eats food(of course after thorough reading) that have labels “may contain, or produced in a facility, or may have cross contamination.” Not everyone with galactosemia is ok with that, but we are, and found that the possible exposure is so tiny it will not harm her. Her labs are great! Some families choose not to eat foods that have those labels, or even avoid any lotions, shampoos or topicals that have milk with the idea that the skin is the largest organ and may absorb milk. I have not come across any articles or research related to the skin absorbing toxic amounts of galactose or lactose for the Classic Galactosemia population. I do not worry about milk in topicals. I did find especially if your kiddo can’t spit to watch out for toothpaste that may have milk.
Other misconceptions about dairy that I have come across:
People assume eggs are dairy. Eggs are not dairy it is poultry.
Not all white things are dairy, like mayo for example, its mostly eggs and vinegar. Still always read labels. I haven’t yet found dairy in mayo, but I am sure some have.
Ingredients and labels:
Read, read, and read again. It gets easier I swear. Keep it simple. Right now you have a baby who is not eating solids yet. For now you only need to pick out one food, their formula. It feels like a huge responsibility to feed your baby and well, it is, but you will be great at it! Start looking at labels now. You will get a better idea of what’s dairy free. I use this website to learn how to cook dairy free Yummly. All you do is set your preferences to dairy free and all these creative recipes are listed for you. Feeding your child can feel overwhelming. Just like any other baby they will not be ready to eat for months. In this time you will learn so much. When they are ready to eat, you will be ready. When you introduce solids to your baby, like any baby, it will be a small handful of foods. After some time you will pick one more food and one more food, till you have great diet choices for your baby.
LINK HERE: FDA Food labels have regulations and it is important to learn HOW to read an ingredients label, just as it is important to read what is in the ingredients list. And again, each country is different, FDA is USA regulations. If you live in a different country it’s important to look up your regulations on labels.
LINK HERE: Learning Kosher labels/symbols are helpful but not fool proof. I use the symbols and find it helpful, but I always make sure to again read the ingredients over. Kosher points out possible safe foods in the world of restriction.
Companies can change ingredients so always look at your label.
The Galactosemia Foundation is a great resource of information on do not eat ingredients. The following list is straight from the Foundation:
Food Ingredients which are unacceptable in the diet for Galactosemia:
Butter
Buttermilk
Buttermilk Solids
Cheese (EXCEPTIONS: Jarlsberg, Gruyere, Emmentaler, Swiss, Tilster, grated 100% Parmesan, Parmesan aged >10 months, and sharp Cheddar cheese aged >12 months)
Cream
Dough Conditioners*
Dry Milk
Dry Milk Protein
Dry Milk Solids
Ghee
Hydrolyzed Whey**
Ice Cream
Lactalbumin
Lactose
Lactoglobulin
Lactostearin
Margarine***
Milk
Milk Chocolate
Milk Solids
Milk Derivatives
MSG (Monosodium Glutamate)****
Nonfat Milk
Nonfat Dry Milk
Nonfat Dry Milk Solids
Organ Meats (liver, heart, kidney, brains, pancreas)
Sherbert
Sour Cream
Fermented Soy products and Soy Sauce*****
Whey and Whey Solids
Yogurt
Tragacanth Gum
NOTE: Lactate, Lactic acid and Lactylate do not contain lactose and are acceptable ingredients.
* Dough Conditioners may include caseinates which are UNACCEPTABLE. Most labels specify the name of the conditioner which is added to the product. If not, contact the company to make sure that all are acceptable.
** Hydrolyzed protein is UNACCEPTABLE and is commonly found in canned meats, like tuna. Hydrolyzed vegetable protein, however, is acceptable.
*** A few diet margarines do not contain milk. Check labels before using any brand. If "margarine" is listed as an ingredient in any processed food, consider the product UNACCEPTABLE.
**** MSG or Monosodium Glutamate itself is acceptable; however, some MSG's contain lactose extenders. It is best to avoid MSG whenever possible.
***** Soy sauce is UNACCEPTABLE if it is fermented. Brands must be checked before including this in the Galactosemic diet.
This list is found on the FARE(Food, Allergy, Research and Education) website for people with diary allergies not specific to Galactosemia:
Avoid foods that contain milk or any of these ingredients:
Butter, butter fat, butter oil, butter acid, butter ester(s)
Buttermilk
Casein
Casein hydrolysate
Caseinates (in all forms)
Cheese
Cottage cheese
Cream
Curds
Custard
Diacetyl
Ghee
Half-and-half
Lactalbumin, lactalbumin phosphate
Lactoferrin
Lactose
Lactulose
Milk (in all forms including condensed, derivative, dry, evaporated, goat’s milk and milk from other animals, low-fat, malted, milkfat, non-fat, powder, protein, skimmed, solids, whole)
Milk protein hydrolysate
Pudding
Recaldent(R)
Rennet casein
Sour cream, sour cream solids
Sour milk solids
Tagatose
Whey (in all forms)
Whey protein hydrolysate
Yogurt
Other Possible Sources of Milk:
Artificial butter flavor
Baked goods
Caramel candies
Chocolate
Lactic acid starter culture and other bacterial cultures
Luncheon meat, hot dogs and sausages, which may use the milk protein casein as a binder. Also, deli meat slicers are often used for both meat and cheese products, leading to cross-contact.
Margarine
Nisin
Non-dairy products, as many contain casein
Nougat
Shellfish is sometimes dipped in milk to reduce the fishy odor. Ask questions when buying shellfish.
Tuna fish, as some brands contain casein
Some specialty products made with milk substitutes (i.e., soy-, nut- or rice-based dairy products) are manufactured on equipment shared with milk.
Many restaurants put butter on grilled steaks to add extra flavor. You can’t see the butter after it melts.
Some medications contain milk protein
Ok, for me, label reading was overwhelming. There are 300,000 ingredients in the FDAs database. Just look at the back of any random product, and there will be ingredients you cannot pronounce and have no idea what it contains. Then what does it mean “it may contain milk or is processed on the same equipment?” This is a disclaimer for safety of people with anaphylactic reactions. Trust me it gets easier. Also do not be afraid to blow up your nutritionist email to explain ingredients, that is their job. ALWAYS ASK QUESTIONS… it will make you feel so much more confident in the answers.
Meat by-products are a no-no! The liver contains high amounts of galactose. So if your grocery butcher is grinding up by-products, animal livers could end up in your ground turkey, beef, or pork. I only give her whole meats, or ground meat labeled “no-by products.” We have a butcher at Western Beef that takes our whole meat, and grinds it up right in front of us. Our nutritionist also warns us to be super careful, specifically since we have a toddler; chicken nuggets can be a big source of by-products.
I am conflicted by online, social-media, Galacatosemia support groups. It is a love-hate relationship. We are rare so it is a great platform to fine support. However, people can get fired up on their information and sometimes be very hurtful while correcting others. I cringe at some responses, but that’s social media for you. The research being preached by some can be outdated, or based on personal opinion, and not actual medical research, so people get upset. I say take what you need, use it as support, and leave the rest. After your personal research, you are going to have your own opinions as well. I only use my Drs and the latest evidence based research studies. Education is about empowering others not cutting them down. It is all about what works for you and your family. Also every country has their own research, standards, and may vary from region to region. When I first started googling it said no to fruits, and legumes. THIS IS OUTDATED for the USA, but some countries and families still follow this. Imagine being told your whole life that watermelon could kill you and then one year the research completely changes and says yes, eat watermellon! Could you understand the hesitation? I can’t imagine being in their shoes, but yet I do some things like that too. I am still scared to give my daughter certain safe aged cheeses. It still makes me uncomfortable even in the face of research saying after a long time aging, the lactose and galactose are broken down. These cheese are ok Jarlsberg, Gruyere, Emmentaler, Swiss, Tilster, grated 100% Parmesan, Parmesan aged >10 months, and sharp Cheddar cheese aged >12 months. In addition, “This patient group is at risk of osteoporosis, and intake of calcium and vitamin D from a low galactose diet may be suboptimal. In the UK, the introduction of low lactose/galactose cheese has gained wide acceptance by patients(Portnoi.)” I know the research and I am working on it. Watching my daughter in ICU has scared me. I let my daughter eat all the fruit and veggies, legumes she wants and her labs are amazing. I found this research of 231 children, and the study showed support that a diet with fruits, veggies and legumes was beneficial to overall health(Frederick.) When reading research it is always best to read the latest year. The galactose in fruits, veggies, and legumes are bound, which means it goes right through you, no problems. Even though emotionally I’m scared, it is not toxic. Always talk with your Dr and never be scared to ask questions. I can’t say that enough!! ASK away!!! My Dr knows I am scare of cheese and she is ok with that.
One last thing, not all things labels that say dairy free are dairy free. It is always best practice to read the ingredients even when things that say vegan, or dairy free. I picked up dairy free soy cheese shreds. I got home, and as always, rechecked the ingredients. It had Casein in it and I was so glad I reread. Casein is a milk protein. The front had bold statements saying dairy free soy shreds but it still had dairy in it. I mean who makes such things???!@!
And lastly Guess What?! Accidents are going to happen. Do not be hard on yourself. Call you dr and push fluids. I have done this. ALL parents come across this. Again, Do NOT be hard on yourself, and stay calm.
If anyone has experiences to share or new information please let me know!!!
Frederick, A. B., Cutler, D. J., & Fridovich-Keil, J. L. (2017). Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia. Journal of inherited metabolic disease, 40(6), 813–821. doi:10.1007/s10545-017-0067-x
Portnoi, P. A., & MacDonald, A. (2016). The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis. JIMD reports, 29, 85–87. doi:10.1007/8904_2015_520
Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., … Berry, G. T. (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), 86. doi:10.1186/s13023-019-1047-z
