Updated Story- January 2019
Meet our daughter, Bella Duff. She is a vibrant, intelligent 11 year old girl who wants to be a marine biologist when she grows up. Bella's life was changed by a diagnosis of Small Fiber Neuropathy in May of 2018. She shares her life, her love and her laughter with her 3 best friends- her siblings. Sammy-13, Benny-9 and Maggie-7. Bella is the third of our four children to face a complex medical diagnosis, and our family has bonded over incredible medical difficulties. A long time ago we coined the phrase "Built Duff Tough", and have used it as a reminder in times of great stress that the strength of our love is bigger than anything happening to our family.
Small Fiber Neuropathy is a complex and devastating condition that causes burning pain or complete numbness in her arms, legs and face. This neuropathy has caused complete dysfunction of her autonomic nervous system called Dysautonomia which can present with hot/cold flashes that burn or freeze her entire body no matter the ambient temperature surrounding her. She also suffers with severe headaches, dizziness, visual and auditory disturbance and extreme fatigue. Some episodes of numbness can be so severe she needs to use a wheelchair, or is unable to use the part of her body that is numb. (In one major episode she lost the feeling in her arms, legs and tongue. We took her to the Emergency Room where she was unable to communicate with us by any means for hours.)
The road to diagnosis was very difficult for us. Bella fell due to a dizzy spell, and lost all feeling in her arms and legs. The feeling came back in her arms, but she was numb from the waist down for 3 months. We faced doctor after doctor, and specialist after specialist who could not explain to us what was happening to our child. (See her story below when we opened her Caring Bridge page) Finally, Johns Hopkins All Children's Hospital in Florida took interest in her case. They did extensive testing, including a skin biopsy which showed that Bella's body was attacking her small fiber nerves due to a condition called Small Fiber Neuropathy. This diagnosis is so rare in children that we are currently fighting with insurance for coverage of the treatments that she needs. Every day is different for Bella except for one thing- her smile.
As we continued to fight for insurance coverage of treatment Bella's condition declined. She was in and out of the wheelchair, or just in bed and in pain. We finally decided that our only option was to pay for Bella's treatments out of pocket until we could get insurance approval. The IV treatments at Johns Hopkins were $5,000 every 4 weeks. Thanks to a fundraiser held by Saratoga Original Free Will Baptist Church (and the generosity of many kind people) we were able to pay for Bella's first treatment in September 2018. Bella had terrible side effects from the treatment, but the ultimate result was very, very positive. She was strong enough to play and enjoy life, again. There were very few episodes of numbness, burning or tingling and her pain was significantly lessened. We were thrilled to see the improvement in her quality of life.... but 4 weeks came very rapidly.... and with that 4 weeks came relapse of her symptoms.
We put our home on the market, and began to do any and everything necessary for Bella to continue treatments.... and she has continued. We are now in month 5 of treatment. Unfortunately, the side effects to the IV treatment became more difficult, and we learned about another form of administration with fewer side effects- subcutaneous. These treatments happen every 2 weeks in the form of 6 needles in Bella's abdomen. They are able to be administered at home which has eliminated our monthly travel, and the side effects are significantly fewer-- however they are $6,000 per month.
We continue to travel to Johns Hopkins for management and monitoring of her care. We continue to fight insurance for coverage of her treatment. We continue to do anything we have to so our daughter can continue to get well, however there are many question marks to her prognosis. She will need treatment for at least 12 months, but they will reevaluate at that time, and it may be longer. She is one of very few cases (35) that they are studying at Hopkins, and we hope that the information found will be helpful to other children who are currently being misdiagnosed just like she was. We remain hopeful that with treatment we will see our daughter live a long, full life.
Thank you all for taking the time to read this.
It means the world.
Original Caring Bridge Post from January 2018:
Bella Duff is an active and engaged 10 year old girl who wants to be a vet when she grows up, and dances as much as she walks. Bella has two brothers who suffer with severe medical conditions. (You can see their stories on their sites at https://www.caringbridge.org/visit/bennyduff
) She also has a 7 year old sister who has no health complications. She dearly loves her siblings. Playing and being with them is the highlight of her days.
A year ago Bella started to present with random neurological symptoms (dizziness, ear pain, headaches, neck pain, joint pain and swelling, auditory and visual disturbances) We took her to doctors, had labs and scans done, and began (as I describe it) a "Hansel and Gretel" type hunt for the problem. Every doctor seemed to have a bread crumb, but none got us out of the forest. :-) She was diagnosed with cervical and joint hypermobility in November. She was prescribed physical therapy, and restricted from pretty much being a kid. No running. No jumping.... and - worst of all- no horseback riding. Horses are the true love of her little life. We continued to search, feeling that there was much more to be discovered. Especially having two boys with a brain condition that originates in their occipital lobe, and presented with similar symptoms.
January 3rd Bella woke up feeling worse than usual. She was extremely fatigued, and having severe dizzy spells (I had taken her to the pediatrician the day before for the dizzy spells). I home school my 4 children, and we were up in the classroom. She couldn't focus and was so very tired, so I made her a bed with a pillow in the classroom, and asked her not to get up without my help. Bella, however, is a stubborn one, and hates to ask for help. The following scene plays out in slow motion in my head everyday now. I turned from my desk, and saw her standing (I was, ironically, on hold with the pediatrician about her dizziness) I saw her standing wrapped in her blanket. I asked her what she was doing. All she said was "Mommy, I'm dizzy." and as I got up to help her she started to fall backwards, her head hit the wall at the very back and snapped her neck forward, and she fell to the ground. She was crying, and I sent one of the children to get ice as I tried to calm her down, but I could not even move her to put ice under her head. She said we looked blurry and then she said "Mommy, I can't feel my arms." A few minutes later "Mommy, I can't feel my legs." I called 911 and she was transported by ambulance to the hospital.... and she has not walked since. She was able to use her arms and hands the next day, and we expected her legs to respond, also- but they haven't. CT scan ruled out traumatic injury, and our daughter was sent home in a wheelchair.
We took her to UNC who diagnosed "dysautonomia", a disorder of her central nervous system. They told us that her brain can completely misunderstand sensory input, and when she hit her head on the wall, it shut down feeling to her arms and legs. They said that this disorder can cause all of the symptoms she is experiencing, and they are originating in her brain. Every time it "misfires" -- she suffers. She has good days and bad days, but -so far- no days with feeling in her legs. On Friday, during a practice with her olympic science team, she lost feeling in her left arm, and an hour later she lost feeling in her right arm, also. That episode lasted about 6 hours before she could move them. We, as parents, believe that "dysautonomia" may just be another bread crumb. A true diagnosis, but there is more to discover. Our next appointment is with UNC Complex Diagnostics to continue necessary testing, and find out what more there is to Bella's condition.
We believe that any day she could wake up and walk again. We tell her and her brothers and sister that any day she WILL wake up and walk again. Until then, we will continue to talk to doctors, meet with specialists and find the answers we need. We thank you for your support on this new journey. Every day presents new challenges. One breadcrumb at a time....