6 Ways to Manage Your Child's New Diagnosis

“Your daughter has Turner Syndrome”

An endocrinologist spoke these words to my husband over the phone. Our 3-year-old daughter wasn’t growing. She was wearing the same clothes she’d been wearing the whole year before. One doctor told me it was because of the open-heart surgery she’d had at birth, and another said it was because of her many ear infections. Since I had the advantage of seeing the big picture, I knew we were missing something. Finally, her cardiologist pointed out she hadn’t gained any weight in a year. I knew that and asked, “What are we going to do next?”

That’s how we ended up at the endocrine clinic. A few tests later, the doctor diagnosed our daughter with Turner syndrome (TS). I was relieved to understand why she wasn’t growing, but now I had hundreds of new questions. What would we do? Which doctors did she need to see? Would she have a good quality of life?

Through trial and error, I learned how to care for my daughter and manage the team of doctors. It wasn’t easy, but I would have done anything to improve her life. I always wished someone had given me some practical advice to make things easier. Although this is by no means a complete list, my hope is that it can help you if you find yourself in a similar situation.

1. Get organized.

Start simple. Create a “to do” and “contact” list. Write down contact information for all of your child’s physicians and other medical personnel such as their specialties, phone numbers, and their office addresses. Open your “to do” list at every appointment. Take notes on new diagnoses, appointments to make, tests to schedule and anything else required for your child’s care. For example, I use a multi-subject notebook with a folder per specialist for taking notes and storing important information. I also have many folders on my computer for documents regarding my daughter’s health issues such as published studies, test results and more. Getting organized allowed me to access the information that I needed quickly, and helped me feel more in control over a situation that was out of my control.

2. Do your own research.

Knowledge truly is power. Do your own research online so you know what questions to ask the doctors. Start by finding and reading the Clinical Practice Guidelines on your child’s medical diagnosis by searching for “Clinical Practice Guidelines, the diagnosis.” As you extend your online research, stick to reputable websites such as the Mayo Clinic, Family Doctor, Drugs.com, and MedlinePlus. If you can get to a conference run by an organization that specializes in your child’s health condition, get there! The more you know as a caregiver, the better you can help your son or daughter. For example, I attended yearly educational conferences on my daughter’s genetic disorder. I would get first-hand knowledge of updates in cardiology and other relevant specialists. I often went to appointments armed with information that was more current than my daughter’s doctors!

3. Know which medical specialists to see.

One of the most overwhelming parts of a new diagnosis is identifying which physicians to see and which are considered the “experts.” In the beginning, you probably depend on the first doctor who diagnosed your son or daughter to lead the way. After a while, you may find your own experts through recommendations of other caregivers and doctors. If you are lucky, you have a doctor who oversees and coordinates care with the various specialties. More often, like what I found out, you will become the coordinator for all the doctors. Many times, there are so many specialists involved that none of them has a complete body of knowledge and understanding of a complex medical condition. I did the research and learning necessary to decide which specialists to see when my daughter had a new health issue, such as when her cardiologist saw scoliosis on her heart X-ray. I made an appointment with a spine expert without consulting our primary doctor. It can save you lots of time to go directly to a specialist. Keep in mind that your insurance company may require a referral.

4. Become a medical expert.

As the main caregiver of your child, you need to become a medical expert on his diagnosis so you can make the right decisions for him. You keep track of everything from blood work, test results, and notes from visits at numerous specialists. Over time, you know exactly what to look for in the test’s results. Over time, I knew what to look for on the echocardiogram that my daughter had every six months. I took on the role of “Medical Mom” early on because that’s what I was!

5. Follow your intuition.

If a physician or other medical professional tells you something that feels wrong, listen to your intuition. In caring for my child, I learned that doctors do make mistakes and that it was important for me to be in tune with and to trust my own intuition. My husband and I were both uncomfortable with our daughter’s first cardiologist and his advice. Our daughter was having symptoms of heart failure, and the doctor we saw dismissed our concerns. Upon pursuing a second opinion, we found ourselves facing emergency cardiac surgery for our infant daughter. After that experience, I was selective and outspoken with doctors. If I was not comfortable with a given doctor, find another one. I recognize that we live in a large metropolitan area, and not everyone has that luxury of choices. In any case, don’t be afraid to question the expert, or speak up as often and as directly as necessary until you feel heard.

6. Find your tribe.

You will need support. The unique stressors of caring for a chronically ill child cannot be understated. Many people in your life will not be able to relate to what you’re going through. It’s not their fault — it’s true that walking a mile in your shoes is necessary to appreciate the full picture. Those who are also taking care of a child with a chronic illness are the ones who can fully appreciate your experience. This is your new or extended family. There are support groups everywhere! If it’s a more common illness, you may find one at a local hospital. Another great place to look is with a patient advocacy organization related to their condition. I found the Turner Syndrome Society of the United States (TSSUS) early on and found moms and dads who completely understood what our family was going through. Facebook groups are another great place to find support.

Much of the knowledge I have shared here, I learned in moments of desperation during the past 22 years. I began to see what a difference my research made in my daughter’s life, so I kept going. She is an amazing young woman who does not let anything stop her, certainly not her health conditions. She will soon be a college graduate, and she has an exciting future ahead of her!