What is Classic Galactosemia?
In order for the body to use different types of carbohydrates and sugars from the food we eat, special enzymes break them down into smaller sugar molecules called glucose, which the body uses for fuel.
Lactose, also called ‘milk sugar’ is the main type of sugar found in milk and milk products. It is made of one molecule of galactose and one molecule of glucose. Thus, all lactose, and all milk and milk products, contain galactose. During digestion, lactose is broken down to galactose and glucose. Then galactose is further changed by the body into glucose so it can be used as energy.
Galactosemia occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase’ (GALT) is either missing or not working properly. This enzyme’s job is to change galactose into glucose. When the GALT enzyme is missing or not working properly, galactose cannot be changed to glucose so it builds up in the blood in large amounts. Unless treated, the excess galactose will affect many parts of the body and, over time, may be life-threatening.
Classic galactosemia occurs when babies do not have enough of the GALT enzyme. Infants begin to show ill effects from milk based formula or breastmilk sometimes within hours of the first feeding. Classic is found during the newborn screening labs done before the mother leaves the hospital (heel prick test).
IF GALACTOSEMIA IS NOT TREATED, WHAT PROBLEMS OCCUR?
Excess galactose in the blood affects many parts of the body. The main organs that this condition effects: brain, eyes, liver and kidneys.
Infants with galactosemia usually have diarrhea and vomiting within a few hours of drinking milk or formula containing lactose.
Some of the other early effects of untreated galactosemia include:
Most untreated children eventually die of liver failure. Surviving babies who remain untreated may have mental retardation and other damage to the brain and nervous system.
Mild galactosemia (also known as Duarte-variant)
Children with mild galactosemia usually have symptoms that are less severe than seen in the classic form. Some have no symptoms to a few.
Children with mild galactosemia that do need treatment but do not receive it may develop one or more of the following:
Some, but not all, African Americans with galactosemia have an even milder variant form. These individuals usually do not have serious health effects from their mild galactosemia.
WHAT IS THE TREATMENT FOR GALACTOSEMIA?Your baby’s primary doctor will work with a metabolic doctor and a dietitian familiar with galactosemia to care for your child.
Prompt treatment is needed to prevent serious health problems and mental retardation. Babies with galactosemia who do not start treatment shortly after birth may have permanent effects.
Infants and children who are either missing the GALT enzyme completely or who have less than 10% of the normal amount of enzyme must follow a special food plan. They need to avoid all foods with lactose and galactose. All milk and milk products must be replaced with formula that contains no lactose.
The following are treatments often advised for children with classic galactosemia:
1. Lactose and galactose-free diet:
People with classic galactosemia are encouraged to follow a lactose and galactose-free food plan throughout life. Lactose or galactose are found in the following foods, all of which must be avoided:
Your child’s food plan will depend on many things such as his or her age, weight, general health, and blood test results. Your dietician will fine-tune your child’s diet over time. The special food plan should be continued throughout life.
2. Special lactose-free formula
Newborns with galactosemia are given a special formula free of lactose. The most common formulas used for babies with galactosemia are those made with soy protein isolate.Isomil® and Prosobee® are two formulas that are made with soy protein isolate. Soy milk itself contains galactose and should not be used.
Your metabolic doctor and dietitian will tell you what type of formula is best and how much to use. Some states offer help with payment, or require private insurance coverage for the formula and other special medical foods.
3. Calcium supplements:
Since children with galactosemia are not eating milk products, calcium intake may be too low. Therefore, children with galactosemia are often advised to take calcium supplements to ensure they receive enough calcium each day. * Tums are a great calcium supplement many take.
Some doctors also advise Vitamin D and Vitamin K supplements in addition to calcium.
Your doctor will tell you what supplements to give your child and how much. Do not use any medication or supplement without checking with your doctor.
4. Monitoring health
Babies and young children with galactosemia usually need regular blood and urine tests. These tests are used to detect toxic substances made when galactosemia is not in good control. The test results will help your doctors and dietitian fine-tune the treatment to meet your child’s needs.
Your doctor may also suggest a formal evaluation of your child’s mental development and his or her speech and language skills. If your child shows delays in certain areas of learning or speech, extra help can be arranged. Early intervention programs are available in most states to provide services before children reach school age.
5. Informing friend, relatives, teachers and child-care providers
It is important for you to tell everyone who helps care for your child that he or she cannot eat or drink milk-containing foods. A Medic-Alert bracelet that states your child’s food restrictions can be helpful. In addition, your doctor may advise you to carry an emergency treatment letter with steps for your child’s care.
WHAT HAPPENS WHEN GALACTOSEMIA IS TREATED? Because the body also makes some galactose, symptoms cannot be completely avoided by removing all lactose and galactose from the diet. Researchers are working on finding a treatment to lower the amount of galactose made by the body, but there is no effective method to do so at this time.
When treatment starts before a baby is 10 days old, there is a much better chance for normal growth, development and intelligence. Some children who receive early treatment may have delays in growth but most attain normal adult heights.
Even with careful treatment from an early age, some children with classic galactosemia show delays in learning and development and may need extra help in school. Some children develop speech and language delays. Some have delays in motor skills such as walking and coordination and balance problems. Some children have behavior changes that may include attention difficulties, low motivation, or shyness. Check with your state's Babies Can't Wait or Children With Special Needs program. Most PKU diseases are covered by Medicaid insurance by the state but you will need to apply. They can provide special formula vouchers, food stamps to be used towards formula only, provide specialist contacts, and provide an in-home therapist to test your child for delays. Then if delays are found they will help you setup speech or OT programs.
Even when carefully treated, girls with galactosemia have a higher chance of having delayed periods and having premature ovarian failure.
If treatment is started after 10 days of life, delays or learning problems are more likely. The level of delay varies from child to child. Treatment is still important, even if started late, because it can help prevent further delays and symptoms.
What happens with a classic galactosemia child, teen or adult digest milk proteins later in life?
Most experience diarrhea and vomiting. It is usually mild. Some state that the vomit has a distinct smell and color. If the diet is not continued the next step is usually a skin rash. The distribution of the rash on the body can be very useful in diagnosis since many times the area it is present shows the organ that is experiencing the issue, the galactosemia rash is normally seen on the stomach or intestinal area. Most times at this point the person will seek out medical attention. When you eat an offending food, your body responds similar to how an allergic person responds. The first time you eat the offending food, the immune system responds by creating specific disease-fighting antibodies (called immunoglobulin E or IgE). When you eat the food again, the IgE antibodies spring into action, releasing large amounts of histamine in an effort to expel the "foreign invader" from the body. Histamine is a powerful chemical that can affect the respiratory system, gastrointestinal tract, skin, or cardiovascular system. It is best to follow your doctor's advice and follow a safe diet for your galactosemia so you won't experience any adverse reactions.
I want to share with you a quick story. My son Jamie was diagnosed with the Classic Case of Galactosemia when he was 4 days old in 1996. The doctor gave us a grave prediction of his future symptoms and that possibly he might not make it out of the intensive care unit. He went through two blood transfusions because his blood counts were so toxic.Jamie did make it out of the ICU and we were given the instructions to be very careful with his diet.Jamie had speech delay and when he did started talking he slurred his speech. We started right away with speech intervention.. When school started he went through the normal grades.. We were lucky we were living in Massachusetts at the time excellent school system. When we moved to Maryland we enrolled him at the "Summit School" it specialized in teaching kids with Dyslexia.My wife did a ton of research and we felt the hour and 20 min drive each way was worth it and let me tell you it was. He spent 4-6 grades there and it was a fantastic place. Fast forward to High School : we were very worried about Jamie entering these years he had spent most of his grade school years in schools specializing in teaching kids w/ Dyslexia but now we were considering a regular private hs .Jamie still had some trouble with speech and focus he lacked physical coordination which led to being picked on in most normal settings.I know I'm writing a book here but there is something that changed everything for Jamie in 8th grade . A friend had invited him to try out for the track team. Jamie went to try outs and we went to watch him run at a all comers meet in 8th grade. (This High School is 8-12) he ran the 500m with probably 100 other kids from multiple schools. Jamie came in 2nd that day.We were shocked Jamie struggled with anything Athletic and here he was showing promise in running.The High School coach Marcus Jones at Trinity approached us and asked if Jamie could run for the team. We didn't realize at the time this meant xc, indoor and outdoor. Here is the special message; when Jamie started running we noticed not only he was a good runner but slowly he started improving in other areas.He had more focus in his studies improved and his grades started improving and his speech improved. This started almost immediately when he joined the team.His self image improved which was huge . Kids at school would point at him now not because he was the awkward kid who spoke funny but because he was that runner kid his school was talking about.Jamie went on in his High School career to win 3 state Championships . He was a 3 time All Metro Selection, All State, All Prep Selection in the distance events but more importantly his grades improved to where he made the honor roll in 9-11th grade and the Deans list his 12th grade. Jamie is now in college something that teachers in his grade school years told us would never happen. Not only is he going, he received a scholarship that pays for 50% of his tuition . Jamie continued running in college. His freshman year cross country season is over and he was All Conference and All S/SE Region and was voted "Rookie of the year" for his conference and by the way his grades are great too!! So here it is we were devastated when we heard Jamie's diagnoses on his 4th day,we were told so many dire predictions but I think early intervention and some hard work and research paid off. I'm telling you this story because as young parents on that 4th day we were so scared for our sons future. My only hope is that this story can show how much can change!
Oliver Siminoff crawled on the floor during an appointment with Dr. Gerard Berry, an expert on galactosemia, at Children’s Hospital. (Dina Rudick/Globe Staff)