Helping Families Understand: Q&A with Christina Trout

A nurse and genetic counselor, Trout discusses the diagnostic process and how she helps families with education and support

Article Highlights:
  • Genetic testing can provide information to an LGMD-affected family about medical care, risk to family members and relevance of drugs in development; but high cost can be a barrier.
  • Genetic testing should always be accompanied by genetic counseling.
  • In addition to medical matters, people with LGMD are concerned about education and career planning and may struggle with issues of loss.
  • This article is part of the In Focus: Limb-Girdle Muscular Dystrophy package, which ran in the October-December 2013 issue of Quest; other articles in this series are listed at the bottom of the page.
by Margaret Wahl on October 3, 2013 - 9:07am

Quest Vol. 20, No. 4
Nurse Christina Trout

Christina Trout is an advanced practice nurse specializing in pediatric neuromuscular disorders and genetic nursing. She's been providing genetic counseling, as well as general education and care coordination, to families with neuromuscular disorders at the University of Iowa since 1993.

Trout works closely with MDA clinic co-directors Katherine Mathews, a neurologist and geneticist, and Michael Shy, a neurologist and neuroscientist. She also serves on MDA's Transitional Services Task Force, a group of medical professionals and people with neuromuscular diseases who provide guidance to MDA on the creation of resources and services for teens and young adults as they prepare for adulthood.

Trout recently discussed the types of questions she receives most often from families with limb-girdle muscular dystrophy (LGMD).

About LGMD

Q: How was the term "limb-girdle muscular dystrophy" viewed 20 years ago, and how is it viewed today?

A: I've been doing genetic counseling in the MDA neuromuscular disease clinics for 20 years, and it's been an amazing trip to see how things have changed in terms of care and diagnostics. When I started, we did not have genetic tests for LGMDs. The term “limb-girdle muscular dystrophy” was used for a patient who had a pattern of weakness primarily involving the muscles of the hips and shoulders, the "limb girdles," as well as perhaps the trunk and the big limb muscles; a high serum CK level; and in whom the muscle biopsy did not look like Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD). At that time — 1993 — we could only commercially test for dystrophin.

Using family history, we could classify patients by the pattern of weakness and their CKlevel, and also by whether the inheritance was dominant or recessive.

As the ability to define LGMDs emerged, we also began labeling diagnoses as limb-girdle type 1 and 2 — type 1 being dominant and type 2 recessive.  

What LGMD means — or doesn't

Q: With all the different types of LGMD, is the term even useful anymore?

A: I think the term LGMD is still useful, because it helps us to recognize a pattern of weakness. However, as we start to have better classifications based on genetic tests and understanding of muscle pathology, we now know that there is a broader spectrum of clinical presentations than originally thought.

The same LGMD-causing mutation can look different in different families and even in different members of the same family.

For instance, we had a family in which two brothers mainly had cardiomyopathy with mild skeletal muscle weakness, while their sister had more profound weakness and a high CK but had normal heart function. They each had the same genetic change, but their clinical symptoms were quite different.

So the term LGMD doesn't always tell families exactly what it is that they have and what they can expect for their future health. But it does help the health care providers to know what to monitor.

Getting a specific diagnosis

Q: What kinds of questions do you get from families about this diagnosis?

A: Both children and adults are diagnosed with LGMD, so the questions are somewhat dependent on the age of the patient.   

Typically, families want to know the short-term and long-term expectations. The initial discussions often are about inheritance and pathology, answering questions like “how did this happen?” and “will others in my family have LGMD?” Many find it helpful to hear how LGMD is causing their symptoms, and we talk about muscle injury and repair over time. Over the years, the questions tend to be more about day-to-day management and what kinds of hurdles they face in their everyday life.

There also are questions about how therapies in development are relevant to their type of muscular dystrophy.

Q: Do you think it helps for someone to get a specific diagnosis of their LGMD subtype?

A: I do think it helps. In the short term, it provides closure to the question of "what do I have" and provides information about what health care monitoring is needed, as well as prognosis for the future.

Knowing a specific diagnosis provides information to the extended family about their risk to be carriers of LGMD, develop muscular dystrophy or have children with muscular dystrophy in the future.

I think we're seeing more awareness and interest in seeking out information specific to their type of muscular dystrophy. Patients often ask about their gene changes and the development of drugs that may help muscular dystrophy patients, like those in development for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) that use exon skipping or read through premature stop codons. You have to have specific types of mutations to be involved in clinical trials using those strategies. There are many strategies under investigation to find treatments and improve the health of LGMD patients.

Q: Right now, these strategies are being developed for Duchenne or Becker MD caused by certain mutations. Do you see that type of therapy coming for LGMD?

A: I think DMD research will be relevant for LGMD patients, but exon skipping and stop codon read-through may not be the specific mechanisms for most LGMD patients. These are mutation-specific interventions aimed at the very large dystrophin gene. But from DMD/BMD clinical trials, we are already learning about the importance of good study design, creation of measureable outcomes and more about the delivery of these types of agents to humans.

Our muscular dystrophy scientists will need to continue to identify additional strategies for LGMD patients. I think there's continuing progress toward that option. Right now, the treatments for LGMD are largely managing symptoms.

What I've seen in 20 years has been amazing, but if I were a person living with muscular dystrophy, it would probably feel like it is taking too long.

Q: What confuses people the most when they first learn that they or a family member have LGMD?

A: It can be confusing when there is no family history of muscular disorders in the family. This is explained by autosomal recessive inheritance, where it is common to only have LGMD in a sibling in one generation. Other immediate questions center around “what does this mean for my future?” Unfortunately, we don't have a crystal ball that can predict for any individual the time and extent their health will change as a result of having LGMD.

But now we can make more specific diagnoses based on what gene is involved. We can better predict things like which patients are more likely to develop heart problems and who is likely to progress at a more rapid or slower rate.

Q: How easy or hard is it for most people to get a genetic diagnosis?

A: It depends on where you live and your access to a skilled neuromuscular disease center.

[Editor's note: Families associated with an MDA clinic should consult with their clinic physician or genetic counselor about genetic testing.]

Here at the University of Iowa, we have the benefit of having very skilled neuromuscular disease specialists who know the clinical signs and symptoms and family history information and can apply an algorithm to get genetic testing done quickly. However, like many parts of the United States, we’re having increasing difficulty getting insurance to help pay for the testing.

We would like to make a genetic diagnosis without having to go to a muscle biopsy. For the patients who do go through a muscle biopsy, we have a very good laboratory to guide us through follow-up genetic testing based on what's found on the muscle biopsy.

Q: Can you narrow down what genetic mutations to test for based on the muscle biopsy results?

A: Yes. Our clinicians look at the information gained on the biopsy, along with family history, the patient’s clinical exam, including the pattern of weakness, and then determine what type of genetic testing is appropriate.

Often, genetic testing for common types of LGMD precedes a muscle biopsy. If a genetic diagnosis is not found, we go to a muscle biopsy. The pathology lab can see which proteins are abnormal in the muscle biopsy, and that then guides the genetic testing.

Q: What would be a typical cost for a family to determine the definitive diagnosis of their type of LGMD? How can that cost be lowered?

A: That depends on what kind of insurance or other coverage they have. As of July 2013, new billing codes have made genetic testing quite challenging. Many insurance companies require prior authorization for testing, or simply choose not to pay for these test codes. This is a concern for many areas of the United States.

A muscle biopsy done with anesthesia can be $8,000 to $10,000. Insurance will generally cover that, but there are often deductibles and copayments, which can add up.

Individual gene tests run from about $700 to $1,000, but a panel of genes — say, for recessive forms of LGMD — can easily be $1,500 to $9,000. Insurance coverage varies on those.

So, in general, we try to minimize testing costs. There are some screening panels for muscular dystrophy to look only at the most common mutations first, and they're much less expensive than a full panel. We will often use that initial screening panel to make a diagnosis, based either on the screen itself or with one more genetic test, without having to go further.

Even so, out-of-pocket costs for a definitive diagnosis of LGMD can be hundreds to thousands of dollars. However, once a diagnosis has been made in a family, testing of other family members for the known mutation is much less expensive. So if you know the mutation in a family is LGMD1B, when another family member wants to get the genetic test, they can test for that specific mutation for about $250 to $500.

Helping the family understand

Q: When you find a genetic mutation in one person, a child or an adult, and you know it has implications for other family members, how is that handled?

A: As health care providers, we cannot breach our patients' confidentiality by contacting their family members. So we have a detailed conversation with our patient to explain the importance of letting their family members know.

In our clinic, if the family is unsure how to share that information with their immediate and extended family, we will provide them with a letter outlining the inheritance issues, and they can make copies of that to share with their relatives. The relatives can contact our office to set up an appointment for themselves to clarify their genetic risk or we can assist in finding a genetic counselor near their home.

It may be difficult for a family to explain genetic inheritance when they may have just learned it themselves. At the same time, though, we don't want them to miss the opportunity of letting family know this is something they might need for their own health, to monitor and manage. 

It is difficult for us as providers if we know someone has a genetic diagnosis and they've elected not to tell their family members.

Sometimes the person who has muscular dystrophy or their parent has elected not to tell other family members because they have feelings of guilt, or they don't want anybody else to know for other reasons.

It comes down to counseling and helping families understand that there's nothing that they did or said that caused a genetic change, but it's an act of nature. The best way to deal with it is to have all the information.

Q: What do you think about testing children for LGMD when they don't have symptoms but there's a family history of the disease?

A: If the family history includes a type of muscular dystrophy that involves cardiomyopathy, I think we would be in favor of earlier testing, because we would institute some monitoring for the heart problems that would allow for early intervention in hopes of preventing or slowing the heart problem.

Genetic testing should always be accompanied by information. Genetic counseling — giving people information about the inheritance, including teens or young people — should be offered when they are mature enough to understand and apply that information.

When considering testing of children, there are the issues of early monitoring and intervention, as well as family planning.

Testing of children who don't have symptoms can be a reasonable course of action, and includes discussion with the child’s parents. I also think it comes with appropriate, face-to-face genetic counseling and patient education — talking with families about the pros and cons of early testing.

A point of contact and an advocate

Q: Your role goes far beyond what many people might think of as a nurse's role in a clinic. Can you talk a little more about that?

A: My role is to be the care coordinator — what some people call a case manager. I fill different roles along the patient’s journey in our clinic. I'm in contact with the family when they've first learned they have some sort of neuromuscular problem, and I'm available through their diagnostic work-up.

Often, I review or re-explain aspects of the diagnostic process. I provide genetic counseling once a diagnosis is confirmed. This is a fancy way of saying I explain inheritance and pathology, review health recommendations and provide support to them through these appointments.

I stick with them throughout their pediatric and adult years of care. I help communication between the family and the health care systems. I'm a point of contact for them in a big system.

There are so many questions or concerns that can be associated with muscular dystrophy, and families are often unclear whom to call to get help. The neuromuscular nurses in our office offer families someone to talk to who is knowledgeable about LGMD and can answer questions like “is this common in muscular dystrophy, or is this something else?”

If we don’t have the answer for the family, we have quick access to the rest of our neuromuscular team — physicians, physical therapists, social workers, etc. We help them find the right person to deal with the problem and work it through until it's resolved or managed.

I also help the family as an advocate in their community. I'm often talking with school nurses, physical therapists or local doctors' offices to clarify or help facilitate whatever follow-up is needed between appointments.

I'm on the MDA Transitional Services Task Force, and we've utilized information from the task force in our clinic. We have used the MDA publication Road Map to Independence for Young Adults as a guide for discussions about future plans, as well as a time to review and regroup as a teen prepares for adult transitions. Clinic can be focused on the medical needs, as it should be, but there may be additional psychosocial questions about education or career planning.

We have completed a few needs assessments in our state, looking at what needs they have and what needs are unmet. Many times, the needs are outside the scope of our program or cannot be met by our program alone. Examples include the need for more mental health counseling, for funding for home and vehicle modification, and for young adults to find work.

When you have a disability, it can be challenging to find appropriate work. Our neuromuscular clinic doesn’t have all the answers, but it's certainly a role for our team to advocate for families and put them in touch with other state and federal agencies to find solutions.

Comfort and quality of life

Q: What psychological or social issues do people with LGMD most often ask about?

A: Some people are challenged with issues of loss — loss of what they thought they would be doing.

We have young people who desire to go to college or find employment, but there are many barriers, which can be discouraging. We can recommend local and state agencies that help on campus, or with job placement.

Our social worker is helpful in finding homecare agencies and funding for attendant care at college and in the workplace. Our physical and occupational therapists look for the right adaptive equipment.

And, of course, we have our MDA health care service coordinator, who sets up support groups and helps families connect with each other. Sometimes it's other families who offer the best ideas and support.

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