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The shock of diagnosis and what's next

Having your baby diagnosed with Classic Galactosemia can be upsetting and disorienting for you as a family. You may be feeling anxious as symptoms develop. And, you're probably thinking a lot about how you'll rise to the challenge of keeping your baby healthy.

Potential life-threatening symptoms

The first weeks of life hold some of the most serious threats to your baby's health. While Galactosemia has proven fatal in the past, taking decisive action with your baby's doctors can help provide the necessary care your baby needs.

How is Galactosemia diagnosed?

Newborn screening

Newborn screening is a public health program conducted in all 50 states to detect serious conditions at birth, including Classic Galactosemia. However, timelines and methods for screening differ from state to state. For Galactosemia, screening typically starts with a blood spot taken from the baby’s heel to check for GALT enzyme activity. Classic Galactosemia will typically be diagnosed if GALT enzyme activity is low. At this point, the doctor may request the test be re-run to confirm diagnosis, or may take another blood sample for genetic testing. Some states may also perform an additional test to measure Total Galactose (galactose + Gal-1p).

When a doctor believes a newborn may have Galactosemia, the parents will be instructed to immediately switch their baby from milk to a soy or elemental formula, and to stop breastfeeding until the diagnosis can be confirmed. Affected newborns may appear healthy at birth, but can quickly develop severe illness if lactose is consumed during the time it takes to confirm the diagnosis (often days or weeks).

How does confirmation testing work?

Confirmation testing looks for several clues that will confirm your child's diagnosis:

GALT enzyme activity

Lack of GALT enzyme activity indicates that the body is missing or has an inactive GALT enzyme that is needed to break down galactose. An enzyme activity test can determine whether there are no or low levels of GALT enzyme activity. A low level of GALT enzyme activity may allow a small amount of galactose to be metabolized.

Galactitol build-up in blood or urine

A blood or urine sample may be taken to determine if there is an excessive amount of galactitol, the toxic substance made when galactose cannot be processed by the body.

The presence of galactitol can support a diagnosis of Classic Galactosemia.

Genetic testing

A doctor who specializes in metabolic genetics may perform a test to understand which genetic mutation is responsible for your baby's Galactosemia.

What happens after a Galactosemia diagnosis?

To prevent serious illness and injury, your doctor will switch your baby from breast milk to soy or elemental formula.

Symptoms & monitoring

Short-term symptoms & long-term complications

Acute symptoms
Ongoing symptoms

These symptoms can occur immediately after birth as a result of consuming too much galactose (either through breast milk or dairy-containing formula). While waiting for confirmation of a Galactosemia diagnosis, your doctor will suspend dairy products and breastfeeding.

Acute Symptoms of Galactosemia in Newborns

What types of testing will my newborn baby need?

For the first year of your baby's life, your doctor should monitor the amount of Gal-1p in their blood at 3 months and 9 months after beginning a Galactosemia-friendly diet.

Know Your Healthcare Team

Meet the team who may look after your baby's health

Metabolic geneticist

These experts specialize in metabolic disorders. They help to confirm a diagnosis of Galactosemia when your newborn's screening test is abnormal.

Dietitian

Your dietitian can provide guidance on your baby's Galactosemia-friendly diet. At this point, your dietitian can help you identify an appropriate substitute for dairy-based formula or breast milk.

Pediatrician

This is your baby's first doctor. They are trained to diagnose, treat, and provide ongoing care for a variety of childhood illnesses, both mild and severe.

Neonatologist

For some parents, their baby will be in the neonatal intensive care unit (NICU). The primary provider is the neonatologist, who specializes in the care of newborns with serious illnesses.

Ophthalmologist

Shortly after your baby's Galactosemia diagnosis, it is recommended that an ophthalmologist check for cataracts, which are caused by build-up of toxic galactitol.

Dietary needs

Feeding your newborn

Because the lactose in breast milk and dairy-based formulas causes life-threatening symptoms in newborns, it is critical that your newborn be given soy-based or elemental formulas, even if you're still waiting to confirm their diagnosis after an abnormal result from initial newborn screening.

Your baby still needs all of the same nutrients that all babies need to grow, so your doctor will recommend some formula choices available to you:

Powdered soy-based formula

This formula is very low in galactose because it is made from a protein extracted from soybeans. The powdered form of soy formula is generally preferred for babies with Galactosemia.

Liquid soy-based formula

This formula is also very low in galactose; however, most formulas have "carrageenan" in them. Carrageenan is an ingredient that contains "bound" galactose, which may or may not be absorbed into the body.

Elemental formula

This formula has been processed to break down all of the necessary nutrients into their simplest forms. This type of formula contains no detectable galactose; however, it can be much more expensive than soy-based formulas.

Galactosemia & breastfeeding

The decision to stop breastfeeding your newborn can be hard. And while breastfeeding is one way to build a connection with your baby, it's not the only way.

Feeding time can still provide an opportunity to connect through comfort and love with your new baby.

Touch, eye contact, and skin-to-skin contact also help foster the unique connection between you and your newborn.

These are all great ways for partners to take the opportunity to bond with newborns too.

And if you find yourself feeling guilty, anxious, or disappointed about stopping breastfeeding—know that it's perfectly normal to feel that way. Give yourself permission to feel your feelings, the good and the bad. Mothers who have had to stop breastfeeding early may be more likely to experience postpartum depression. If you're feeling overwhelmed and need some help, Postpartum Support International has resources to help.

Testimonials

Living with Galactosemia

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Enjoy your baby and don't worry about the future yet. I missed out on so much with the stress of the future. Kimberley M. | Patient

One piece of advice from our metabolic specialist was obviously don't give her dairy and provide her with a rich and nurturing environment, and that's what you can do as parents right now. Nikki M. | Caregiver

Try not to worry about what could happen—if it does, it won't have helped to worry for years leading up to it; if it doesn't happen, you'll have wasted so much time needlessly worrying. Jodie S. | Caregiver

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