Our Journey Raising Two Children with Special Needs

This blog chronicles our life raising two children, Nicholas 14, diagnosed with Prader-Willi Syndrome and Weston 17, diagnosed with Autism/Asperger's/ADHD. It's the ups, the downs, the joys, the sorrows and most importantly, the beauty of living a life less perfect, a life more meaningful.

Saturday, October 20, 2012

Lack of Fever in PWS

There are a multitude of bizarre symptoms associated with Prader Willi Syndrome. But the one that scares me most, is the lack of fever in the presence of infection.

Combine this with yet another bizarre symptom, a diminished ability to feel pain, and it now becomes difficult for a parent of a child diagnosed with PWS to know when their child is very sick. Their weakened immune systems can further complicate this issue, creating a very real, even life threatening situation.

I was once  again reminded of this last week.

Before starting his new school, Nicholas developed an illness.

Again, since Nicholas does not present with a fever, I could not be sure if it was viral or bacterial.

But after ten years of observing my son, I have begun to notice the subtle "quirks" that indicate to me that he has acquired an infection.

The first thing that happens to Nicholas is a complete shut down of his gastro-intestinal track. He stops having any kind of bowel movements for days, even though he takes daily doses of ex-lax and miralax.

When this happens, it is my cue, that Nicholas is getting sick. To me, this is Nicholas's version of a fever.

The next quirky symptom that Nicholas develops, is a swollen gland, particularly on his left side. This is the second time, it has swelled beyond normal size in response to an infection.

Since it had been a few weeks that Nicholas was sick and I had now seen both "infection indicators" I called Nick's doctor to schedule a visit. Unfortunately, our pediatrician was not in the office so we had to visit with one of the staff physicians who was not familiar with Nicholas or PWS....something I hate to do but since Nick was suffering, I decided to bring him for a visit.

I told the doctor that Nicholas had a sore throat, swollen glands, runny nose, constipation and fatigue. I explained that children diagnosed with PWS do not always develop a fever in response to an infection and that he had been sick for over a week. I was concerned he had an infection.

He did not take me seriously and since Nicholas did not present with a fever, or seem uncomfortable, he diagnosed Nick with a virus and sent us home. He did not perform a strep test and told me it was not unusual for some viruses to last for several weeks.

We went home without a strep test, without blood tests and without antibiotics.

After our visit to the doctor, Nicholas's swollen glands began to grow to an alarming size, he developed a stiff neck, severe diarrhea and experienced blood in his nasal discharge. It was back to the pediatrician's office we went, only this time, we visited with our long-time pediatrician who is very familiar with Nicholas and PWS.

She examined Nicholas and became alarmed when she discovered that his left gland had swollen to 7 centimeters. But again there was no fever. She immediately performed a strep test and ordered a barrage of blood tests, fearing that perhaps this could be a tumor or an abscess. She started him immediately on a very strong antibiotic and requested we return to see her the following week. She also asked that I call her immediately if his gland swelled any further.

That night, our pediatrician contacted me to let me know she received the results of his blood tests and discovered an increase in his white blood cell count, pointing to a possible infection and not a tumor. Phew.

The next day the 24-hour strep test also came back positive. Phew again.

The "big guns" antibiotic, Nicholas was taking began to do the trick. His swelling was down, his bloody nose gone and his color returned to his cheeks. Our pediatrician called again to see how he was doing.

She is a cracker jack of a physician; incredibly smart, thorough and well-versed at developing quality health plans for Nicholas. We work very well together and have easily handled many difficult medical issues together. We share a true partnership and I trust her completely. She values my inputs. She always takes me seriously and never makes me feel as though I am a neurotic, antibiotic-seeking mother.

She also explained that since Nicholas had his tonsils and adnoids removed, she was not surprised that his lymph nodes were swelling. The tonsils/adnoids serve as a type of sentry soldier she said, swelling in the presence of viral or bacterial infection. Since Nick's had been removed, his lymph nodes were now serving as the soldiers and she was pleased to see that they were doing their  job.

Getting some medical professionals to see my child as "unique" in his need for medical treatment has been a difficult challenge for me, as it is (I am sure) for all parents of children diagnosed with special needs.

I have found that finding the right pediatrician and medical specialists is the important key to success.

I have learned that much like Donald Trump, it is important to keep only the BEST team players.

And although this greedy tyranical business man, is not my idea of an appropriate role model or human being, I am learning that I do need to embrace his philosophy of telling those who do not measure up and take me seriously...."YOU'RE FIRED!

My son's good health depends upon it.

Thank you Dr. Bhathena, you are very special to us.
p.s We have discussed adding notes and guidelines to Nicholas's chart from Dr Bhathena to the other physicians in the practice. Thank you for your suggestion Guilia..great minds think alike.