My friend called. Her grown son was just diagnosed with a rare brain tumor. The tumor of the pituitary gland was a benign (not cancerous). This type of tumor increases the amount of growth hormone and causes acromegaly or gigantism. Her son’s, very on the ball, GP noticed symptoms, large hands and feet, growing facial features and referred him appropriately for the correct tests that confirmed the diagnosis. Now her son is making plans for surgery and his mother is frantically checking online for all the information she can get.
What I did when I got the call to help research this rare disorder for my friend, I started with Google and I looked on the Medical Home Portal, which collects medical information about rare medical conditions, and The National Organization for Rare Diseases NORD.
I looked for the specialists for this disorder:
I checked for the disorder's patient and family support organizations:
In this case the support organization based in Australia.
I checked for the experts in the field (who writes the papers on the rare disorder).
And finally I found medical guidelines:
That is what I did as a nurse practitioner. Now consider what should a family do when a diagnosis is made.
Find the specialist for your child’s diagnosis. If the diagnosis is very rare. There is some doctor or group of doctors in the world who takes an interest in your diagnosis. Most of those doctors are associated with a medical school. Look for who writes the medical articles on the diagnosis and who is on the board of the patient support groups for your diagnosis.
Be careful of online quacks and the scary worst case personal stories. Try to learn as much as you can from respected medical persons and from persons and families who have helpful advice from personal experience. Find helpful resources through your doctor or the agency who supports families with your diagnosis or disorder.
Consider a second opinion, especially if an operation is called for. My friend’s son is living in Australia at this time. Sometimes second opinions can be offered by review of charts, lab and MRIs. John Hopkins has neurosurgeons who offer long distance second opinions after the patient or patient’s family gathers the required forms. Of course the John Hopkins neurosurgeons are specialists for adults. Other medical schools offer the same type of second opinion services.
If your child needs a surgery for a rare problem ask if the surgeon has performed this surgery before. Sometimes older surgeons have seen more rare diseases, on the other hand, sometimes the younger surgeons know the new surgical techniques. Find a medical school with specialists, the latests equipment and of course the nurses who love to take care of children with special needs.
The Medical Home Portal has a page entitled When your Child has Been Diagnosed with a Disability or A Special Health Care Need. Read the whole article. The following are the suggested topics to consider:
- Take a deep breath and remember your love for your child and family
- Educate yourself about the diagnosis
- Beware of the Internet
- Find resources and support in your area
- Start lining up services
- Understand the laws that may apply to your child
- Take care of yourself
- Take care of your family
- Educate your child about the diagnosis
- Take another deep breath.
Let me know if you think of some other ideas for the time after that first diagnosis. Of course always hug your loved ones, call on your friends for help and take deep breaths. Remember that each loved one handles problems differently. Be respectful and tolerant of those differences and if needed get counseling by a professional to help your family through the difficult times.
