Newly Diagnosed
There is nothing scarier than sitting in a geneticist’s office and being told that your child has a rare brain disease – especially one without any treatment or cure. It’s traumatic on many levels, and it impacts families in all different ways: socially, emotionally, physically, financially, and more.
You are not alone. There are hundreds of other families who have a loved one who has been given the same devastating diagnosis of FOXG1 syndrome. These families have been in your shoes and navigated the unchartered waters that lie before you. None of us chose to be in this community, but now that we’re here, we can draw strength from each other – and we can share our experiences to help one another move forward in our journeys.
What to Expect
FOXG1 syndrome is a rare neurological disorder that occurs when a mutation occurs in the FOXG1 gene. Because the FOXG1 gene impacts many other genes, an abnormality in the FOXG1 gene has significant downstream effects on the central nervous system.
There are different types of mutations that can occur, and thus, no two FOXG1 patients are exactly the same. Based on patient data and medical research, we know there are many common symptoms among this patient community, including global developmental delays, epilepsy, feeding difficulties, sleep and movement irregularities, and more. Most FOXG1 patients are unable to walk, talk, feed themselves or perform most tasks independently. Most require a number of medications to help treat the symptoms and provide comfort to patients.
Resources
Depending on the age of your impacted family member and where you are located, you may be eligible for certain resources and support, including early intervention programming (e.g., physical therapy, occupational therapy, speech therapy, etc.) and potentially other government support, such as Medicaid and Social Security disability benefits. You may also qualify for certain in-home support through your health insurance, such as New York’s Consumer Directed Personal Assistance Program. Learn more about some of these programs: Medicaid eligibility and Social Security benefits.
As difficult as this journey will be, one thing is clear: you will need to advocate for your impacted family member in order to secure the best care and support. Health insurance companies often deny or delay claims, and people will not move on the timetables you need unless you push.
There are a number of organizations who may be helpful to you as you navigate your new reality. Among other things, you may be thinking about:
How you will be able to financially afford to care for your loved one, including the purchase of necessary equipment, the hiring of caregivers, updates to your home, and more. [The National Resource Center for Supported Decision-Making provides tools and resources to navigate these types of difficult concerns. The Global Genes organization is also a great resource.]
New legal and financial estate planning needs to ensure your loved one is taken care of after you’re no longer here. [Special Needs Assistance and the Special Needs Alliance are good resources with several questions and answers on this subject.]
The physical and emotional tolls this journey will take. [Parent to Parent USA connects parents with each other. Many caregivers also seek mental health counseling.]
Where to find the right medical care for your loved one. [Boston Children’s is one hospital system that has a FOXG1 clinic. It is important to have a local medical team wherever you are, too.]
How you can learn about potential treatment options in the future. Sign up for our newsletter below.
How to advocate for your loved one. [The Arc is an organization that provides information and tools to people supporting others with disabilities.]
How to help advance our work to develop a treatment and ultimately a cure for FOXG1 syndrome. [Email us at info@webelieveinacure.org to get involved.]
We know this can be overwhelming. Remember that this is a marathon, not a sprint. If your diagnosis is recent, in particular, make sure you take time to grieve and care for yourself. The best advice we can offer early on in the journey is to build your team – your caregivers, your physicians, your therapists, your friends and family. There is no “right” way to deal with a diagnosis such as this – you need to do whatever it takes to provide comfort, care, and security in ways that work for you. You can always reach out to us for further guidance at info@webelieveinacure.org.