This article was written by and shared with permission from Shannon Wieloch, MS. Shannon is a certified genetic counselor and patient advocate for the Aicardi-Goutiere Syndrome Advocacy Association and founder of Stork Genetics. Stork Genetics offers telehealth genetic counseling appointments for a range of specialties including adult genetics, infertility, preconception, prenatal, and proactive wellness. Shannon can be reached at [email protected] or (267) 652-0202. 

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I’m super-excited to announce that Stork Genetics has the privilege to work with the Aicardi-Goutières Syndrome Advocacy Association (AGSAA). Why? Two reasons: 

• The genetics of Aicardi-Goutières Syndrome (AGS) are fascinating and I’m never been one to shy away from the chance to dork out about genetics. 

• Because the parents and families of those affected are so freaking passionate and intelligent and in love with their kids. To me, partnering with a community like this is what’s at the heart of genetic counseling.

So what are we doing? Our goal is to raise awareness of this rare genetic disease and educate both healthcare providers, including pediatricians and specialties, and parents about AGS. 

Why do this? Well, have you ever heard of AGS? If so, how much do you know about it? Because knowing could improve the quality of life, or save the life, of anyone affected — and that “anyone” could be someone you know. 

The 411 on AGS 

AGS primarily affects the brain, immune system, and skin and is caused by genetic variants in one of nine genes involved in the body’s immune response. Having a functional immune system is essential. It allows our bodies to fight viruses and other pathogens to keep us healthy and doing the things we love to do: like concoct an Iron Chef-worthy dinner (or just eat one), finish a book series that sucked you in (I recommend Throne of Glass by Sarah Maas), or adopt yet another cat from the streets of Montgomery Country (after discussing this with your significant other, of course, because if you don’t, they can get really mad and not talk to you for two days. Just saying. From a friend.)

Symptoms of AGS typically start in infancy or early childhood and are pretty variable. As mentioned above, one of the main issues is immune system dysfunction. Basically, the body mistakenly identifies its own cells as foreign and launches an attack against them. This leads to chronic inflammation that can damage tissues, particularly the white matter in the brain. This is a big deal because white matter allows for the exchange of information and communication between different areas of your brain. Damage to the white matter is what leads to the neurological symptoms of AGS, such as developmental delay or regression (losing skills a baby once had, like crawling and babbling), intellectual disabilities, seizures, and neuromuscular issues. Other symptoms often include:

• Swollen lumps called chilblains, particularly on the hands and feet. Chilblains are associated with a painful itching sensation and result in the skin becoming swollen and blistered. 

• Vision problems like cortical visual impairment (CVI), joint stiffness, and mouth ulcers.

Awareness & Education

So how do you know if a person has AGS? It’s not easy, since AGS is not the first disease that comes to mind when a pediatrician is evaluating an infant for irritability, intermittent fevers without infection, poor feeding, and developmental delay. And because these symptoms overlap with other more common conditions, it often takes many visits (we’re talking high double digits) to many specialists (again, high double digits) before a diagnosis is made. And with this condition, time is of the essence as early identification and access to emerging treatments are essential to manage severe progression and improve quality of life for affected individuals and their families.

Here’s where increased awareness and education come into play. One of the reasons these kiddos are often forced to embark on a diagnostic odyssey (sans sirens) is because someone along that journey has to first know of AGS to suggest that it could be the underlying cause of these symptoms. Without that knowledge, the journey is long, frustrating, and exhausting.

Who needs to be aware of AGS in the hopes of suggesting a diagnosis? Ideally, everyone. But to start, most definitely pediatricians as they are the gateway to care. Certain specialists, such as pediatric genetic counselors, geneticists, gastroenterologists, neurologists, rheumatologists, and hematologists should also know. And most definitely you, as a parent, family member, or friend!

Is it hard to diagnose AGS? No … and yes.

No: You remember those nine genes I mentioned in the beginning? Genetic variants in these genes are either inherited or occur spontaneously. But all of the genes are testable for genetic variants that can disrupt the function of the gene and cause AGS. And, truth be told, genetic testing is becoming more and more affordable and accessible. Does every pediatrician have a solid understanding of genetics? Well, no. And there certainly are not enough geneticists to see every patient with a genetic condition. Enter a Genetic Counselor (stage left). We can help. It’s kinda our thing.

Yes: Because someone, be it a healthcare provider or parent, needs to know that AGS could be the cause of what is going on with the kiddo to even think of ordering genetic testing.

Next Steps

Currently, there is no cure for AGS, and treatment focuses on managing symptoms and providing supportive care. However, there are many different prospects to alleviate, preserve, and restore quality of life and development skills for these kids. And the earlier the diagnosis, the earlier the treatment can begin, reversing and preserving basic developmental milestones. As Devon Cordova, AGSAA Executive Director and mama of Rafa, who has type 2 AGS, said “a week without medication means that you lose your kid’s smile.” Yeah, just sit with that for a minute.

So now what? Well, I’m never going to say that a donation to the AGSAA is a bad idea. They are the cornerstone that connects the AGS community and are committed to outreach, education, and research. Your money would go a long way to support those efforts. But what I really want is for those reading this article to remember AGS and to advocate and educate your people on this condition. Do you need to laden the conversation with gene names, genetic mechanisms, and the pros and cons of each treatment option? Hell, no. Just, remember:

• Providers: When you see a kiddo in your practice who is extremely irritable, it could be something much more than colic. Switching formulas isn’t going to do these kids any good. Look closer – did the parent mention a lack of new skills or that their child has lost skills? Has the child’s head growth slowed down?  Because these are RED FLAGS. To be clear, I am not advocating for a cranial CT (to identify calcification of the basal ganglia and white matter) or an MRI (to identify leukodystrophic changes) for every child that enters your practice. But remember AGS, listen to your patients, and be open to the possibility that it isn’t always something you know.

• Patients: Advocate. Advocate. Advocate. As a healthcare provider, I am often asked for advice. And while I will never tell a patient which path to choose, I will advise them to be educated and aware of their options, to know and understand their signs and symptoms, and to advocate for themselves (and their children), because you can never count on someone else to do it.

Finally, continue to learn more about AGS through the Aicardi-Goutières Syndrome Advocacy Association podcast and resources and connect yourself or someone who may benefit from a connection with the AGSAA. With numerous social media accounts – LinkedIn, Instagram, Facebook and their family caregiver community private Facebook group, and Twitter – they’re extremely accessible.