Galactosemia Together
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We're a group of patients, caregivers, parents, metabolic dietitians, and clinicians dedicated to providing trustworthy information, vetted by experts. Community Guidelines:
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Today's Word: Genetic Mutation. Inherited mutations in the GALT or GALK genes are responsible for causing Galactosemia. Visit https://bit.ly/36QmTQ0 to see the ways these mutations cause problems for people with Galactosemia.
Preparing your child for any new stage of life, like a new school year or extracurricular activity, can sometimes be overwhelming. The Galactosemia Diet Instructions guide can help make the transition a little smoother by providing teachers and other caregivers on overview of how they can support your child. Find this and other helpful resources at https://bit.ly/3tEDCS8
Galactosemia shouldn't define your child. Instead, it can be a part of who they are. They can become an advocate for themselves and the Galactosemia community. Encourage your child to speak to their friends and others about how they live with Galactosemia. Education is powerful. https://bit.ly/3ueeGke
School is back in session! How did you prepare for your child to start this school year? Share your tips for new school-year transitions in the comments.
Receiving a Classic Galactosemia diagnosis for your newborn can be upsetting and disorienting. Knowing what to expect can help. Learn more about the path forward at https://www.galactosemia.com/living-with-galactosemia/newborns-babies/
The Decision to stop breastfeeding is an emotional one, but necessary in order to keep your newborn safe. Your dietitian can guide you through formulas that are Galactosemia friendly. Learn more about different types of formula at https://www.galactosemia.com/living-with-galactosemia/newborns-babies/
Korissa is a mother to a teenage son with Galactosemia, and is an avid supporter of newborn screening. Korissa experienced the importance of newborn screening firsthand when urged by a nurse to conduct the test on her healthy-looking newborn, resulting in her son's Galactosemia diagnosis. Newborn screening saved his life and prompted Korissa to learn about the condition and its dietary restrictions. https://www.galactosemia.com/living-with-galactosemia/newborns-babies/
Your newborn will need a special diet after being diagnosed with Galactosemia, including a soy-based or elemental formula. Learn more about a Galactosemia-friendly diet for newborns at https://www.galactosemia.com/living-with-galactosemia/newborns-babies/
Always check with your physician before making any changes to your child's diet.
Is your child about to start their first year of school? Maybe moving up a grade with a new teacher? Let us know about any tips you have for talking about Galactosemia with new teachers and see what works for others. https://www.galactosemia.com/galactosemia-patient-resources/
September is Newborn Screening Awareness Month!
Newborn screening is the critical first step in the diagnosis of Galactosemia and can help expedite care to ensure the earliest intervention. Learn more about the importance of newborn screening: https://www.galactosemia.com/living-with-galactosemia/newborns-babies/
Galactosemia is a rare metabolic disorder, that if not caught in the first two weeks of life has a high fatality rate. Luckily, with medical advancement and the Newborn Screen, most babies with Galactosemia are caught early enough today to save their lives. However, thats not always the case and severe symptoms can happen earlier than diagnosis that cause a child to lose their life.
At our in person conferences we want to take a moment to remember the lives lost too early to Galactosemia. If you have a child, or know of someone who does, that we can add to our list to remember, please reach out of [email protected].
We are only nine days away from conference! If you want to register, there is still time! If you've registered and are wondering what to expect, check out our website with all the information you need. Are you coming? What are you looking forward to most? Let us know in the comments! https://galactosemia.org/2024/06/06/2024-galactosemia-conference-details/
Today's Word: Neurologist. An expert in the nervous system that can diagnose, treat, and manage issues with motor skills, tremors, and seizures. Visit https://bit.ly/3dsyBn0 to meet the rest of your healthcare team.
Now that you're a pro at creating a Galactosemia-friendly diet, it might be time to give your teen some control over their meal planning. See how you can empower them to take their diet into their own hands at https://bit.ly/3qy6AzN.
What early childhood services were most valuable to you
and your family? How did you connect with them? Share
in the comments and learn from others.
To help your teen with Galactosemia learn to begin taking care of themselves, consider letting them have more control in managing their diet. Help them get used to reading food labels with these tips: https://bit.ly/39JBvBt.
Share some of the misunderstood information or myths you've encountered on your Galactosemia journey. Together, we can work toward addressing them.
Today's Word: GALT. An enzyme in the body that processes galactose-1-phosphate (GAL-1p) into glucose-1-phosphate, which is eventually used for energy. Visit https://bit.ly/2USlDsg to see what happens when this enzyme is missing.
Registration is available, with early bird pricing extended until May 30. Check out our latest newsletter for information and links to register, book your hotel, sign up for the talent show and more. We are still experiencing some random technical difficulties. If you have any problems registering please email [email protected]://galactosemia.org/wp-content/uploads/2024/05/Galactosemia-Gazette-Conference-Registration-Open-Summer-2024_FINAL.pdf
The decision to stop breastfeeding is an emotional one, but necessary in order to keep your newborn safe. Your dietitian can guide you through formulas that are Galactosemia friendly. Learn more about the different types of formula at https://bit.ly/3CVHL5C.
2024 Paul P Conference Scholarship Application - Galactosemia Foundation Our foundation advocates for people with Galactosemia and their families. We connect families and support networking efforts between clinicians and researchers.
Kimberley has been living with her Galactosemia and recommends "Take it day by day. You don't need to be an expert now."