Hello, friends! It's so good to be back! Since I last blogged, I ran the NYC Marathon, celebrated the holidays with my dear family, and have most recently been prepping hardcore for the upcoming Rare Disease Day on Saturday, February 29. We are hosting our virtual race again and hope that you all will join us in spirit to celebrate ALL rare disease warriors and bring awareness to their struggles!
Speaking of the race, we are SO excited to share the story of two of our loyal race participants: a mother and daughter duo - Carrie and Willow! Carrie has so graciously agreed to blog for us about her daughter's rare disease journey with Periodic Fever Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA). This story brought tears to my eyes because the level of parental love and sacrifice is paramount. This story is like so many others, a prime example of how rare diseases affect a multitude of people beyond the patient and that having a strong support system can make all the difference. Thank you, Carrie and Willow; we hope that your story inspires others to be open about their own rare disease journeys so that we may collectively bring even more attention to this community!
CARRIE AND WILLOW'S STORY
In April of 2006, I rushed my 6 month old daughter into the emergency room with a temperature of 107.2, her tiny body lethargic in my arms. “That can’t be right!" I hear someone say as they take her away to treat her. This is how we started our fight with the disease known as PFAPA, (periodic fever aphthous stomatitis, pharyngitis and cervical adenitis.) We would not get a diagnosis for 6 long years.
My daughter, Willow, was born in October 2005, a perfectly healthy and beautiful baby girl weighing in at 7lbs 15 oz. At just 6 months our healthy baby began fighting the highest of fevers, so frequently that it would cause doctors and specialists to question us as parents, particularly because we were the ones predicting to doctors when she would get sick and we were accurate within 24 to 48 hours. Thankfully our pediatrician did not give up and believed everything we were telling her, from the insanely high fevers to her sores and aching body. This became our new normal.
Along with frequent high fevers, Willow fought painful ear infections, making the need for ear tubes apparent at just over 1 years old. After the ear tubes were in place, the monthly episodes and urgent care visits still occurred, but we weren’t fighting the ear infections any longer. It is still not known whether the PFAPA illness and ear infections are connected.
We began to feel frustrated and hopeless after months went by and all we could do was comfort our little one, alternating between Motrin and Tylenol every 3 hours. We were on high alert for fever related seizures. During these times, my husband and I didn’t sleep; it only took a minute for the situation to turn bad and need immediate medical attention.
One time in particular we miscalculated her next episode and went on a vacation to the redwoods in California. While camping, Willow went from a happy baby to one that was so incoherent and burning up with fever we had to alert the closest hospital we were coming with a baby with a fever of 108!
As soon as we pulled up to the hospital, nurses rushed out and took our baby to the back while we waited helplessly. Finally we were asked to come back and talk with the doctors. We explained what we go thru every month and then had to listen to them as they told us “it’s a virus” yet again. After administering medicine and chilled IV fluids, after testing and inserting a catheter for urine analysis, they advised us to get home as fast as we could to see our regular pediatrician. Needless to say, we packed up our campsite at 2am and drove straight home, the longest 12 hours of our lives with continual temp checks and stops for comfort care.
I remember 2 other times an outbreak occurred and we had to provide care while out of town (sadly one of these was her first and only trip to Disneyland) before we finally decided it best to stay home where we have access to our pediatrician, and until we knew exactly what was causing her to be so sick.
Months and years came and went without a clue as to what was making her suffer every month until one day when Willow was 6. I received a call from her pediatrician who was so excited she was yelling! “I know what it is, I know what willow has!!!!” She told me that she had just attended a lecture at the Center for Disease Control where they were talking about PFAPA and she even had the opportunity to discuss Willow's case. I can’t tell you how relieved and emotional this call was for me because now I had a name for this illness. I could research, educate myself and get Willow to the specialists that studied and were most familiar with this disease. I even joined a support group for PFAPA families and offered to help newly diagnosed families with resources and a listening ear. Yes!! We had a diagnosis!
At around 7 years old, Willows symptoms changed and her fevers went away; however, now we deal with swollen lymph nodes, body aches and multiple oral ulcers which continue to this day even as I sit here, watching my now 14 year old rare disease warrior play volleyball.
Not much is known about adults living with this newly recognized disease which was only assigned an actual name in 1987. However through research, doctors have found that having a child’s tonsils and adenoids removed can be roughly 70% successful in reducing or eliminating the fevers. Steroids seem to also help with the fevers, if given at the time of onset, but causes the episodes to be more frequent than monthly. Research is ongoing and we are paving a path for the future of others; in the words of my pediatrician who has been practicing for 30 years, “I have only seen 2 PFAPA cases in my entire career and Willow is one.”
In writing this, I hope to share our story and remind parents never to give up, always trust your tuition because it won’t steer you wrong. Stand up, be your child’s advocate and never lose hope that even if the doctors don’t believe you, you must believe in yourself. Your child’s health depends on it. Celebrate and embrace rare disease day with us February 29, 2020! Show those suffering that we stand with them and while they may have an illness, that illness doesn’t have them!