In October, I sat down with Laura and Ryan Nitahara to discuss their experience with Krabbe disease, a rare genetic lysosomal storage disorder and progressive neurological condition. Prompted by their son Quinton’s diagnosis and their desire to support research in the Krabbe community, the Nitahara family joined with KrabbeConnect to create Quinton’s Quest for a Cure family advised fund to raise funds for Krabbe disease research. In addition to their passion to support research in Krabbe disease, other key concepts emerged in our discussions: the importance of newborn screening, the need for the medical realm to deepen its understanding of rare diseases, and the risk factors that help identify genetic conditions. Research into these topics quickly identified the perfect healthcare providers to help families navigate the questions raised by families like the Nitahara family: genetic counselors!
Genetic counselors are an amazing resource for families or individuals. In addition to family planning assistance, genetic counselors help others make informed and personalized decisions relating to their genetic health. For families grappling with a diagnosis of Krabbe disease, Fabry disease, inherited predisposition to cancer, or other genetic conditions, genetic counselors can be invaluable in navigating the landscape.
Recently, Patient Worthy spoke to licensed and certified genetic counselor Dawn Laney, MS, CGC, CCRC. During our talk, we discussed an overview of genetic counseling, what families should know about genetics, and how to best utilize advocacy groups and nonprofits like KrabbeConnect for research and education.
For as long as she can remember, Dawn Laney has been fascinated with genetics and how certain conditions are passed down in families. In 1999, she received her Master’s degree in medical genetics from the Sarah Lawrence College and in 2002 earned her certification from the American Board of Genetic Counseling. After beginning her career in prenatal genetic testing and metabolic newborn screening follow-up, Dawn is currently an assistant Professor in the Emory School of Medicine Department of Human Genetics and Director for the Emory Genetic Clinical Trials Center. Her patients and research interests focus on Fabry disease, Krabbe disease, and other lysosomal storage disorders.
What are Genetic Counselors?
We started our conservation with an in depth discussion about what genetic counseling is. Dawn describes genetic counselors as:
mid-level practitioners specializing in research and genetics, conveying genetic information, and helping families navigate the risk and reality of genetic conditions.
Genetic counselors also translate complicated genetic information into understandable points, allowing for increased awareness and education. They help families and patients understand testing options, genetic results, next steps, and treatment options as they facilitate and support decision making. The need for these skills is very broad and touches upon every aspect of medicine. That means genetic counselors can specialize in different areas, from prenatal to cancer to public health. Some genetic counselors are generalists who see patients will all indications, while others are very focused on specific disease or organ.
In Dawn’s case, she specifically works in lysosomal storage diseases. She combines long-term clinical care of her Fabry and Krabbe patients with research in clinical trials. Hopefully, these trials will uncover new and more effective treatments for these conditions. In the meantime, Dawn’s goal is to “make life better” for patients and their families by empowering them and providing the best care possible. Part of this goal is met by helping to train and mentor new genetic counselors. In support of this goal, Dawn contributed to the creation of an endowment fund for the Paul M. Fernhoff Genetic Counseling Scholarship in honor of Dr. Paul M. Fernhoff.
Interestingly, in addition to Dawn’s clinical and research work, she also is co-founder of a genetics start-up. After her father concluded his own diagnostic odyssey, he was frustrated with the quality of information on the internet on genetic conditions. As Dawn explains:
There wasn’t a lot of information, so we decided to make a path towards education. We wanted to bridge the gap between seeking and finding, which meant we had to design our own program and everything that goes along with that.
To address this gap, the pair co-founded a company, ThinkGenetic, Inc., as well as a 501(c)(3) nonprofit organization called the ThinkGenetic Foundation. ThinkGenetic, Inc. focuses on locating individuals with diagnosed and undiagnosed genetic diseases using artificial intelligence (AI) solutions. The ThinkGenetic Foundation’s mission is:
“to improve the quality of life for those living with or at risk for a genetic condition through education, quality information, access to genetic counseling and genetic testing, and partnerships with the advocacy community.”
Dawn and her father, Dave, didn’t just have a vision with the creation of ThinkGenetic, Inc. and the Foundation; they also had the technology and genetic experience to bring that vision to life.
From crowdsourcing information from genetic counselors to focusing the company’s message through business acceleration programs MassChallenge and Accelerate South, ThinkGenetic was born. The organizations aim to provide information for patients and families who have been diagnosed. However, says Dawn:
we also wanted to identify people who are walking around with a genetic disease and do not know it, and help healthcare providers with algorithms that run on limited datasets.
By using the power of patients, Dawn believes genetic counselors, ThinkGenetic Inc’s solutions, and advocacy groups can shorten the time to diagnosis. For example, collecting self-reported symptoms from patients can hone algorithms and create more education. Plus, as people did research, they could ask themselves, “Objectively, who has this symptom cluster that could make you think you had a genetic condition?”
Another important aspect of Dawn’s work is her advocacy work with organizations such as the National Fabry Disease Foundation, the Fabry Support and Information Group, and Krabbe Connect. Dawn serves as a KrabbeConnect board member. KrabbeConnect is a rare disease nonprofit organization which amplifies patient voices, promotes research, and advocates for new treatment options for patients with Krabbe disease.
The idea for KrabbeConnect emerged in 2015 during the Family Centered-Krabbe Translational Research Network meeting. Then, in 2017, founders Stacy Pike-Langenfeld and Anne Rugari brought it to life. Dawn had worked with Stacy and Anne in the Krabbe community and through the great work of the Legacy of Angels Foundation. When the co-founders approached Dawn to join the new board and bring her genetic counselor perspective, she was honored and signed right up. Dawn sees KrabbeConnect as a way
to help empower and educate families as things move forward in the development of a treatment for Krabbe.
Also, for patients:
Having a group like KrabbeConnect, who has your back and helps vet research and projects, is helpful.
According to KrabbeConnect, Krabbe disease:
is a rare genetic disorder, also known as globoid cell leukodystrophy.
When the myelin sheath, the protective cover of nerve cells, is damaged, nerve cells become exposed. As a result, communication between the body and nerve signals is interrupted. Patients with Krabbe disease are unable to produce enough galactocerebrosidase (GALC), a type of enzyme that normally breaks down complex fatty substances. As these accumulate, the brain’s white matter is damaged. Krabbe disease is present in an estimated 1 in every 100,000 births in the United States.
Patients with infantile-onset Krabbe disease usually show symptoms before 6 months of age. Symptoms of infantile-onset Krabbe disease include fever, irritability, developmental delays, vomiting, feeding difficulties, muscle spasms, vision loss, and muscle stiffness.
Without treatment, infantile onset Krabbe disease is typically fatal before age 2. However, Krabbe disease also has other forms that can start in childhood or be even later-onset. The life expectancy is also longer for late-onset Krabbe disease, but each patient’s medical case can be very different.
Inheriting Krabbe Disease
Dawn notes that an important thing to know about Krabbe disease is that it is inherited in an autosomal recessive pattern through the family. That means:
both parents have to be carriers of a nonworking gene that causes Krabbe disease and both have to pass it on. Even if two parents are carriers, on average 75% of the time their baby will not have Krabbe disease. That’s why you can see parents who have multiple unaffected kids before one who has Krabbe disease.
Typically, carriers of one disease causing gene mutation associated with Krabbe disease will not have any negative impact, or at least none that researchers have identified. Dawn explains:
You can go along just fine with one defective gene. But development is severely interrupted when you have no working copies of the gene.
Newborn screening is a public health program that tests infants for a variety of rare genetic, metabolic, and hormone disorders. The goal of newborn screening is to provide early identification and treatment for newborns with disorders in order to have better long-term outcomes. Dawn explains:
Newborn screening is a critical public health program. If you don’t do something in the first year of life for many of these conditions, outcomes are much worse than they could be. Newborn screening is designed to really positively change the lives of families and babies.
Unfortunately, newborn screening is not standardized throughout the country. As a result, conditions that are tested for in one state may not be tested for in another. Each state is able to decide what diseases they want to test for and if they decide against one, it does not have to go on their panel. For example, Krabbe disease is currently screened for universally in seven states. It is also offered to some families in the state of New York. The newborn screening advisory board in Georgia also recently voted to do a long-term pilot project to test newborns for Krabbe disease; however, that program has not yet begun. Dawn shares:
It is important to know which conditions a specific baby will be tested for when they are born. If a baby is at risk for a specific condition, like Krabbe disease, that requires immediate treatment, work with your physician and/or genetic counselor prior to delivery to organize testing before or at birth.
Using Genetic Counselors for Family Planning
So what should parents, or potential carriers who are planning a family, know about the genetics of Krabbe disease and other conditions? First, working with genetic counselors can help parents with any questions and concerns they may have about inheritance of the condition. Dawn shares:
Genetic counseling is key because the families and counselors can talk about different testing and treatment options to find what the family is most interested in pursuing from preimplantation genetic testing, prenatal testing, or testing at birth.
Genetic counselors can also identify other family members who may also be carriers of Krabbe disease and how to access carrier testing.
Dawn is incredibly happy in her job and hopes that in the future students continue to look into genetic counseling as a career option. She explains:
It’s an amazing and flexible degree that you can mold and change to form the career that fits you best. You can take that degree anywhere from full-time patient care, research, advocacy, public health, writing, working in a lab, or a mix of all of these options.
She also reiterates the importance of supporting advocacy groups, specifically as more clinical trials and resources become prevalent. Advocacy groups are:
designed not just to support a patient medically but help them decide whether a clinical trial is right for them or not right yet. These groups give families the information to make really informed decisions.
These groups are able to support families who have just received a diagnosis through resources, education, and connection. Reaching out to organizations like KrabbeConnect introduces families to people with a wealth of knowledge; this can also help families get connected to each other and speak to others on the journey.
Finally, the last piece of advice Dawn gives is directly for families, but an important reminder for all:
Don’t believe everything you read on the Internet.
Sometimes it is easy to get lost in the huge amount of information online. But Dawn reminds parents that they know their child best. So instead of getting caught up,
Work with the knowledge of your specific child and specific symptoms. Find a medical quarterback. Sometimes those are genetic counselors, a medical specialist, a primary care physician. But use what you know, and the resources you have, to get the right testing and right support.