Newly Diagnosed

How you might be feeling

It’s completely natural to feel a mix of emotions after a diagnosis: confusion, fear, sadness, or even relief at finally having an answer.

There’s no “right” way to feel. Every family experiences this moment differently, and whatever you’re feeling right now is valid.

What this means

What a PMD diagnosis means for your family

Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects how the brain and nerves communicate with the body.

It happens because the protective layer around nerves (called myelin) doesn’t develop properly, which can affect movement, coordination, and development in different ways.

It’s natural to want to learn everything about PMD as quickly as possible—but it’s also okay to take your time.

Start with the basics, and come back to more detailed information at your own pace.

Learn more about PMD Learn more about PMLD

carer and their child holding hands on the sofa

What happens next

While adjusting to your new reality takes time, there are some things you’ll want to think about immediately to ensure your child’s quality of life over the long term. This checklist will help you tackle the most important next steps following their diagnosis.

1

Write down your questions

Questions will come up at different times: during appointments, at home, or even in the middle of the night.

Keeping a notebook or notes app can help you capture them as they arise, so you don’t feel pressure to remember everything. You can then bring these questions to your child’s appointments and discuss them with your care team.

a person writing information on paper from their phone

2

Organize your child’s medical appointments

Speak with your child’s doctor or specialist about what to expect and what support is available. You may want to ask:

Will there be follow-up appointments after the diagnosis?
If yes, who will you see? How often? How should you make appointments?
Who will be your main point of contact for questions?
Who will be responsible for coordinating your child’s care and support?

Having a clearer picture of how care is organized can make things feel more manageable.

3

Assemble your  child’s care team

Children with PMD are often supported by a team of specialists who each focus on different aspects of care.

This may include neurologists, physical therapists, occupational therapists, speech and language therapists, and other healthcare professionals. Ask about referrals to these specialists.

You may not see them all in one visit, but they will each help to address your child’s development, comfort, and wellbeing post-diagnosis.

a parent playing with toys with their child

4

Tell friends and family about the diagnosis

Talking about the diagnosis can feel difficult, and there’s no single “right” way to do it. Some families choose to share information gradually, while others prefer to be more open from the beginning. Let people know what feels comfortable for you.

It can also help to create and share a list of your needs, as friends and family members may not know how to support you. Whether it’s practical assistance, emotional support, or just being there to listen, they want to support you through this period.

a parent smiling with their child in bed

5

Consider genetic counseling

You may be offered genetic counseling to help you understand more about PMD and how it may affect your family.

This can be a space to ask questions about inheritance, future family planning, and what the diagnosis means more broadly. There is no pressure to make any decisions - this is simply about giving you clear, helpful information.

6

Take care of yourself, too

It’s easy to focus all your energy on your child, but your wellbeing matters too.

Even small moments of rest or support can help you cope with the emotional and practical demands of this time. Looking after yourself is not a luxury; it’s an important part of caring for your family.

family with two children, one in a wheelchair

family with a child in a wheelchair, smiling

I am constantly searching for stories of families facing similar challenges that will guide me with hope and strength. In this process, I came across the PMD Foundation and it has been a source of support and encouragement for families like ours.

Saba Mirali, Tiara’s mother

You don’t have to face PMD alone

Through the PMD Foundation, you can connect with a wider network of parents and caregivers who have been through similar experiences. They can offer practical advice, reassurance, and a sense of community.

You can also join our PMD Family Network to stay informed and connected.

Join the PMD Family Network