You'll probably first bring up your concerns about your child with his or her primary care doctor. Your child's doctor then will likely direct you to specialists for a definitive diagnosis and treatment. However, your child's primary care doctor generally still stays involved to help coordinate your child's health care needs. Some of the specialists that may be involved in your child's care include an ear, nose and throat specialist (otolaryngologist), a heart specialist (cardiologist), a brain and nerve specialist (neurologist), an eye specialist (ophthalmologist), a dietitian, and physical, occupational and speech therapists.
Here's some information to help you get ready for your appointment, and what you might expect from your child's doctor.
What you can do
- Make a list of any signs or symptoms you've noticed in your child, including any that may seem unrelated to Hunter syndrome. For example, diarrhea is a sign of Hunter syndrome, but one that you might not necessarily link to behavioral problems.
- Write down key personal information, including any personal or family history of a genetic disorder.
- Take a family member or friend along, if possible. Sometimes it can be difficult to remember all of the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
- Write down questions to ask your doctor.
Preparing a list of questions will help you make sure you cover all of the points that are important to you. Some basic questions you might want to ask your doctor include:
- What is Hunter syndrome?
- Are there any other possible causes for my child's symptoms?
- Are any additional tests needed to confirm the diagnosis?
- What treatments are available, and which ones do you recommend for my child?
- Does this treatment have any risk?
- What type of improvement can we expect?
- What is my child's long-term prognosis?
- Are there alternatives to the primary approach that you're suggesting?
- Does my child need to eat a special diet?
- If my child is in pain, how can I make my child more comfortable?
- What are your suggestions for handling behavioral issues?
- What about routine well-child care? Should my child get routine childhood immunizations? Should my child get flu shots?
- Does my child need to see different specialists?
- What type of help will my child need in school, and how can I ensure that public schools will provide the educational resources my child needs?
- If I have any more children, what's the likelihood that I will pass this syndrome on to them? Can I prevent that from happening?
- Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting? Are there local resources available for me and my child?
- Can you recommend someone I can speak with about insurance coverage and other expenses related to the special needs of my child?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask additional questions that occur to you during your appointment. Don't hesitate to take notes. At the end of your appointment, you may wish to summarize the information you've received with your doctor to make sure you understand it.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:
Dec. 13, 2012
- When did you first notice your child's symptoms?
- Have other adults mentioned any concerns about your child?
- Are your child's symptoms present all the time or do they come and go?
- Do you know if there is a family history of Hunter syndrome?
- Does anything make your child's symptoms better?
- What, if anything, appears to worsen your child's symptoms?
- Scarpa, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet Journal of Rare Diseases. 2011;6:1.
- Martin R, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008;121:e377.
- Mucopolysaccharidoses fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm. Accessed Oct. 11, 2012.
- Kakkis E, et al. Complications and management of the mucopolysaccharidoses. http://www.uptodate.com/ index. Accessed Sept. 21, 2012.
- Muenzer J, et al. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009;124:e1228.
- Da Silva EMK, et al. Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). Cochrane Database of Systematic Reviews. 2011; 9:CD008185. http://onlinelibrary.wiley.com/doi/10.1002/14651858.CD008185.pub2/abstract. Accessed Oct. 1, 2012.
- Valayannopoulos V, et al. Therapy for the mucopolysaccharidoses. Rheumatology. 2011;50:v49.