Nemaline Myopathy Support Group

Resources

Starting out with NM

Diagnosis

Being diagnosed with any form of nemaline myopathy can be a devastating time. If you feel talking to a parent or an adult with NM who has been in the same situation would help, then please join one of the groups listed on the Home page or contact me directly for a one-to-one introduction to a family who have the experience and knowledge you need.

What Can I Do?

Families often state that a number of activities have helped them reduce the stressful parts of parenting a child with special medical needs. Reducing the stress allows them to make more room to enjoy their child.

Activities may include:

  • forming partnerships with their child's providers
  • playing an active role in all level of decision making
  • becoming an expert on their child's concerns
  • learning to advocate for those concerns
  • getting involved with other families with similar concerns

Before a medical appointment

Briefly write down significant medical history. Include episodes of major illness, hospital admissions, ongoing medical or behavioral problems, and medications. This summary can help guide the health care team when reviewing the child's chart. The Alliance for Genetic Groups provides information on this topic.
Please see medicaljourneys.com/ArticleofMonth.
Make a written list of questions and concerns. Leave space to write down the answers. Meetings with the providers should be an open exchange of ideas and information. Do not hesitate to actively participate. Here are some questions that may be good to ask during a genetics appointment:

  • What is the diagnosis?
  • How accurate is the diagnosis?
  • Are there any tests that can confirm that a person has this condition?
  • What are the characteristics of this condition?
  • Is there a cure or treatment for the condition?
  • Is financial assistance available?
  • What other specialists do I need to see?
  • How likely are my family members to have this condition?
  • Is this condition passed on from one generation to the next?
  • Where can I get additional information?

If the diagnosis is known, bring a brief explanation of the diagnosis. If available, bring any brochures or relevant articles. These can serve as reminders of the important health concerns. Bring a list of all the health care professionals involved in the child's care. Include their names, specialties, and contact information. This can help bring together the team and encourage to provide an integrated approach.

During the appointment

Tell the doctor the reason for scheduling an appointment and what are the goals for the visit. This will help the doctor to provide the most appropriate care. Discuss all aspects of the child's care. Often families are hesitant to mention something because they fear that their concerns are unimportant. Seemingly unrelated symptoms or even subtle characteristics may turn out to be key in determining a diagnosis or the best care program. Parents should always tell everything and let the doctor determine what is relevant. Be as clear and descriptive as possible. Do not hesitate to rephrase questions or concerns if you are unsure that your concerns are not being understood. Do not be afraid to ask questions. All questions are important. Sometimes there is a lot going on at the clinic and it may be difficult to remember all the questions. Bringing a list of questions with room for your notes may be helpful. Before leaving the office, make sure that all questions have been answered and you are comfortable with the information presented. If the provider suggested a diagnosis, prescribed medication, or recommended a treatment, do not hesitate to ask questions or raise concerns. Ask for written materials and ask for definitions or how to spell a word.

After the appointment

If there are any remaining or new questions, call. If the provider is not available, another health care professional on the team can help. Get informed. Subscribe to a newsletter or attend meetings about the child's condition. Next time you see the doctor, you may be able to share the most recent information on the child's condition. Whenever possible, ask for and keep copies of exams, tests, and letters from the provider. AND ALWAYS TRY TO… Be informed of health insurance issues. It is helpful to know what are the insurance privacy regulations, annual deductible, whether a procedure requires pre-approval, etc. Protect your privacy. It is important to use judgement to decide who needs to know medical information about you. Do not give disclosure authorization if there is a doubt. Maintain a positive attitude and substitute negative thoughts with positive affirmations.

 

Download guide to Respiratory Care for Neuromuscular Disorders
An excellent paper in laymans terms, written by Muscular Dystrophy Canada.

 

Written by: Ana Morales, MS
Genetic Counselor
Children's Hospital Division of Genetics
Enders 5 300 Longwood Avenue Boston
MA 02115, USA
Ana no longer works at Children's Hospital.

Adapted from: The Genetic Alliance Website and Linette Leaman's ideas presented on-line at the Ehlers Danlos National Foundation Website

Edited by: Dita Obler, MS and Kathryn Spitzer, MS.

Plant a tree for NMSG

image

Purchase a tree to dedicate to anyone with NM and help us raise funds for our next convention.

Planting a tree is a great way to mark an occasion or to remember a loved one. I am offering people the opportunity to plant a tree in celebration of a family member or friend with nemaline myopathy and at the same time raise funds for the Nemaline Myopathy Support Group.
Learn more »»