A new year is often a defining moment or a catalyst for a major life change. It has significance in how our lives are marked and referenced. We often recall events by the year in which they occur. Similarly to the start of a new year, the day your child is diagnosed with a genetic deletion syndrome may be a defining moment and will likely signal the start of a new journey. Before you set off on a journey, you explore options, chart a course and plan who will join you on the journey. Exploring options and charting a course is easy when you have a clear picture of the destination and know what the journey will look and feel like. With a new genetic deletion syndrome diagnosis, the journey may not be quite so clear. As you navigate this new beginning, we offer guidance to help you and your family start to chart the journey and our guidance starts with three simple focus areas: research, reflection and relationships.
The mission of Liv4 The Cure is to advance science and technology for rare chromosomal deletion syndromes because so often rare diseases lead to rarely finding specific information or research on the specific disease. When navigating the internet, it can be overwhelming to decipher between scientific information vs. advice from a parent vs. misinformation. We offer a few tips on exploring a diagnosis on the Internet:
In your search for valid information related to your child’s condition, aim for websites that have a web address ending in .edu, .gov, or .org. In general, these websites will be more reliable and contain more accurate information than others.
If you are unable to find a specific organization or website dedicated to your child’s disease, start with the National Organization for Rare Disorders (www.raredisease.org).
Seek out research articles from a ‘peer-reviewed journal’. A peer-reviewed scholarly article is written by someone considered an expert in the field and then published in a journal that is reviewed by other experts. Within a peer-reviewed journal you may find the following:
A systematic review: published reviews that share comprehensive information dedicated to answering a specific question. The Cochran Collaborative is a nonprofit organization that is dedicated to making systematic reviews available to patients and families to enable informed healthcare decisions (www.cochrane.org).
A quantitative study: an article that will focus on something measurable and will include numerical data; for example, a study that looks at the impact of a genetic deletion syndrome on a specific lab value would be quantitative.
A qualitative study: a study that aims to observe and describe experiences instead of study measurable data.
A case study: an article written about a handful of clinical cases with similarities.
You actually may find more case studies published than research studies due to the fact many deletion syndromes are rare, and it is hard to study a large number of patients with the disease or disorder to have clinical, statistical significance. Our organization hopes that is not always the case and we are devoted to growing the body of research available to the medical community, patients and families caring for people with genetic deletion syndromes.
Depending on your child’s diagnosis and prognosis, we encourage each family to reflect on treatment options and spend time defining what you want life to look like for your child and family. In your exploration to learn about your child’s disease, you may find multiple options ranging from mildly invasive to aggressive treatments. In addition to treatment options, you may find a palliative care approach, a better fit for your family. Palliative care is a multidisciplinary approach to disease management that focuses on symptom management, comfort and quality of life while still opting for treatment. Palliative care may be used for diseases or disorders that are not curable but that is not always the case. Take some time to reflect on what matters and what will work best for your child and family. How one defines quality of life is deeply personal and uniquely individual. You may define quality of life in the numbers of days, months or years you have to spend with your child. Others may define quality of life as days home vs. days in the hospital. And still another family may define quality of life as a fully independent and functional child. However you define it, we encourage you to reflect on what is important to you, your child and family and then seek out a medical team who listens to what is important to you.
The last guidance we offer to families of children newly diagnosed with a genetic deletion is to start building relationships with other families who have experience with the same syndrome or disease, or a disease similar enough that both of you will share the same challenges. The initial diagnosis can feel isolating, but you can build relationships with others on this journey. You will want a network of other families to reach out to with disease-specific questions to help you better navigate the path. We recommend looking for non-profit organizations or family groups that are focused on your child’s syndrome. You may also find support groups within different social media platforms that help decrease the isolation by connecting you with families all over the world on a similar journey as you. One resource specific to Wolf Hirschhorn Syndrome (WHS) is a Facebook group of the same name; this Facebook group will connect you to other WHS families. Another way to connect is to speak to your child’s medical team and ask if they know another family or patient diagnosed with the same disease as what you are experiencing; often families are willing to connect with each other to offer support and be available for questions.
A new diagnosis does not have to feel like an overwhelming, impossible journey. Explore your options through research, chart your course through reflection and build relationships so you aren’t alone on the journey. Liv4 The Cure is a great place to start, and we hope to make this journey a little easier on you.