Some symptoms that begin earlier in life may continue into adulthood. Because of long-term health issues, it may be difficult for adults with Classic Galactosemia to become independent.
Cataracts 1 in 5 people with Galactosemia develop Galactosemia-related cataracts as an adult, which is caused by build-up of toxic galactitol in the lens of the eye.
Anxiety and depression People with Galactosemia experience anxiety and depression more frequently than their peers. Anxiety affects over 50% of people with Galactosemia, whereas depression affects about 12%. Symptoms of anxiety are varied, but include irritability, restlessness, lack of concentration, unwanted thoughts, insomnia, and excessive worry or fear.
Attention deficit hyperactivity disorder (ADHD) Some adults living with Galactosemia may experience difficulty processing information quickly and may have trouble with holding attention on a single task.
Tremor There are different types of tremor, or involuntary muscle contractions in parts of your body. Symptoms of tremor include shaking hands, arms, legs, or torso; difficulty writing or holding utensils. In rare cases, some people with Galactosemia experience vocal tremor.
Seizures While uncommon, generalized seizures (such as "absence" or "grand mal") and sometimes partial seizures ("focal") may develop in people with Galactosemia. Epilepsy is reported in a minority of people with Classic Galactosemia.
The monitoring and assessments you paid close attention to as a child and young adult will likely remain similar in adulthood, though you might find that you go in for assessments less frequently.
18 years and older
Neuropsychological assessment for executive function
As you get older, your neurologist may occasionally want to test how your brain processes information, solves problems, makes decisions, and regulates your thoughts and feelings to monitor for any signs of change.
Additional psychological and neurological testing
Your neurologist and other similar specialists may want to assess and monitor for signs of anxiety, depression, ADHD, tremor, and seizures.
Bone density screening
Every 5 years, your doctor will likely want to continue to monitor the amount of important minerals in your bones.
Hormone testing (for females)
If you are a female with Galactosemia, your doctor may do blood tests that check your levels of estrogen hormones.
Cataract screening is done when/if patients are non-compliant with their diets.
Know Your Healthcare Team
Primary care provider
Your primary care provider can help you manage life with Galactosemia as an adult, helping to connect you with other care professionals as you need them.
Your dietitian can offer lifelong advice on your diet. As an adult, your dietitian can help coach you on how best to manage your diet and offer advice on how to keep up your Galactosemia-friendly lifestyle.
Since cataract development is common in adults with Galactosemia, seeing an ophthalmologist can help you monitor for any changes in your vision.
Speech therapy may be needed even in adulthood to help treat or manage speech, language, social communication, cognitive communication, and swallowing disorders.
A neurologist may be needed to help you diagnose, treat, and manage cognitive or motor delays due to potential complications from Galactosemia, including tremor and seizure, though these are uncommon.
Depression and anxiety are common in adults with Galactosemia. Psychologists, licensed therapists, or counselors can help you develop the tools to cope through difficult emotional periods in your life.
As an adult with Galactosemia, there are ways you can keep track of foods that are Galactosemia-friendly and still enjoyable.
Click below for more information about a Galactosemia-friendly diet and reading food labels.
Keeping bones healthy now and in the future.
Approximately 3 out of 4 adults with Galactosemia have low vitamin D since they get less calcium in their diet. Consider discussing taking vitamin D and/or calcium supplements with your healthcare provider.
I don't see Classic Galactosemia as defining my self-identity. It is a big part of who I am, but I work around the challenge that Galactosemia has brought me. Jamie H. | Patient
A lot of people say Galactosemia is who you are, but I am just a person with Galactosemia. I don't let Galactosemia define me. Kimberley M. | Patient
Get involved in the Galactosemia community. You'll find help and support there. Heather C. | Caregiver