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How to Prepare Your Family for an Appointment When Seeking Support For Alagille Syndrome

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Seeking specialized health care for your child can be a stressful experience, especially if it’s for a rare condition like Alagille syndrome (ALGS). You probably have a lot of questions about life for your child with ALGS and depending on where you live, you may have to travel outside of your city or state to get answers. This article will help you prepare for an appointment with a specialist for your child living with ALGS. 

First, a brief review of the condition: Alagille syndrome is a genetic disorder that primarily affects the liver, causing it to develop too few or narrowed bile ducts. These ducts are small, tube-like channels in your body that allow bile to pass from the liver to the small intestine. Bile not only helps the small intestine break down fats, but it also helps carry away wastes filtered out of the blood by the liver. When bile cannot pass freely to the small intestine, it can accumulate in the liver and cause liver damage. 

ALGS can also cause other symptoms, such as heart defects, bone defects, and unique facial features. One symptom that children with ALGS may struggle with is cholestatic pruritus, which is intense itching that can be difficult to treat. 

As you’ve no doubt noticed, ALGS is a complex disease. That’s why it’s so important to prepare for appointments with specialists for the condition. Here are some tips to help you and your family prepare for an appointment for your child with ALGS:

1. collect your child’s medical records and family history

Your specialist may not practice in the same medical system as your primary care physician. When hospital or medical systems aren’t partnered, it can be challenging to transfer over all of your medical files to your new specialist. That’s why it’s important to have copies ready at your appointment for them to scan just in case. Make sure to collect information not only from your primary care physician but also other specialists that you’ve seen in the past.

Because ALGS is a genetic condition, you’ll likely be asked for your family history. ALGS is caused by a mutation in a gene that can be passed down from parent to child. If you’ve had any genetic testing completed for ALGS, make sure to bring those results with you as well. 

2. Confirm if additional testing is needed prior to your appointment 

Some specialists prefer to have testing done prior to the appointment so that they can go over the results with you when you meet. When you make an appointment, ask to speak to a care coordinator to help determine what is needed for your appointment. Your primary care physician can also contact them on your behalf to discuss these steps. 

Tests your child may need to have include:

  • Blood tests for liver function
  • Liver biopsy
  • Liver imaging
  • Genetic testing
  • Pancreatic function tests 
  • Heart structure and rhythm tests
  • Eye exams
  • Spinal x-rays 

3. Write down your burning questions 

Speaking with a specialist shouldn’t be a one-way conversation. You likely have many questions about ALGS and how you and your family can best navigate it. 

Make a list of questions and know that you don’t have to do this alone — feel free to speak with your primary care physician, other specialists, or other family members to come up with your top most burning questions to ask. 

And remember, if you don’t get through all of the questions in your visit, you can usually send a message through an online portal after the visit with any follow-up questions. 

Some initial questions that you may consider include:

  • Have you treated ALGS before?
  • What other specialists should my child see for ALGS?
  • In what cases would a child need a liver transplant for ALGS?
  • How is my child’s liver doing right now? 
  • What additional tests should my child have?
  • How can I best support my child with ALGS?

4. Research possible treatment options

One of your questions to ask will likely be “what are the treatment options available for this condition?” It’s good to look up some of the most common treatments available and write down major questions you have about them. 

Gathering a little bit of information beforehand will also help you understand the treatment plan they have for your child a little bit easier. We know it can be tough sometimes to navigate through some of the more complicated science, but know that the specialist you’ll see will help you understand these options better as well. 

Remember: You’re not alone on this journey.

Originally published: February 3, 2023
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