She continues with treatments and meets with her team of Dr.'s at NIH often. Its been a 3 and a half year journey through Brae's mysterious illness. We have been to many local doctors since Brae was 1 1/2 years old, seen doctors at Rochester Hospital since March, and recently took a trip to Boston General Hospital for Children to meet with a pediatric infectious disease doctor who also teaches Harvard Medical School students. She has been given a "working diagnosis" as Dr. Siegel in Rochester states. She is taking a drug called Colchicine and slowly working her way into a full dosage that doctors hope will provide relief. The "working diagnosis", is Familial Mediterranean Fever. It is baffling to doctors as many of her symptoms fit the criteria for diagnosis, but her rashes are more severe. People have asked what FMF is, asked how the insurance works, which specialties handle these cases, and what research/support groups are out there. I will provide some information much of which can be found at http://rarediseases.info.nih.gov (.gov sites provide more case study info):
What is FMF: It is an inherited condition caused by a mutant gene often found in ethnicities from the Mediterranean regions. Ongoing research shows it can occur in other European ethnicities. It is not contagious. It is a lifelong disease that causes episodes of pain, vomiting, joint swelling, and rashes which are a result of swelling in lining of abdomen, pelvis, lungs, heart, brain, and spinal cord. The episodes are referred to as "flares" and can last from 1-5 days or longer and varies among patients. The interval between flares varies from days to years. Currently, Brae has been flaring more in the last 3 weeks and for 2 weeks has been taking a drug Colchicine that has been used for treating gout and more recently for treating FMF. The doctor said if they have the diagnosis and med correct, she would show improvement in a month or two. The recent flares seem close together and increasing in intensity, there are many speculations as to why, but we have to wait and see what happens as the dosage of the drug increases as to whether the dx and rx are correct. Brae's experiences to date: Since Brae was 1 1/2, she has had monthly flares of fever, hives, joint pain and swelling, edema in hands and feet, vomiting, and diarrhea. I probably have over a thousand pictures to document the illness. In the last 2 months, the flares are more frequent coming about every 2 weeks to more recent, every week. She started pre-K this year and has a loving team at school who have learned how Brae looks and acts when she is sick. As a result of the illness, Brae has had to be sent home from school at least 3 times so far. Keeping her out of school is tough as she feels if it's not a "S" day, she needs to be at school-dedicated. She even asked to go back to her class after vomiting in school before fever started. How prevalent is it: It varies by heritage and therefore gives a different ratio for each Mediterranean culture. It varied from 1/250-1/1000-1/2600-1/73,000. According to research, it is a rare disorder. How is it diagnosed: genetic tests, clinical symptoms , family hx, various blood tests, response to treatment drugs
Is there a cure: No cure has been found. Research does not know all of the outcomes in everyone, only the tracked cases. Research is continuing to find drugs to target the protein responsible for the disease. Untreated, patients are at risk for kidney and other major organ failure. With lifelong treatment, research indicates one can live a fairly "normal' life, but not free of the disease or potential flares. Which specialties are involved: Brae has seen genetics, gastroenterologist (local), general pediatrician, pediatric infectious disease (Boston), pediatric rheumatology (Rochester), allergist, and dermatology (Rochester and local). Doctor Saleeby from Boston wants Brae to be part of his team including himself, Boston dermatology, Boston genetics, and Boston rheumatology. How does our insurance plan cover expenses: Rochester doctors so far have been covered. We just pay copays of $20-$40. Boston Hosp charges over $700 for office visit, but once we meet a yearly $1,000 deductible (not terrible), they will consider paying up to 80% of what they feel is reasonable and necessary in procedure. There is no guarantee of 80% coverage which the rep indicated could be anything below or no coverage if they feel something was not necessary. Any of the percentages they agree are fair will be reduced by 20% owed by us in addition to the rest of the bill that they refuse to pay. They call this a copayment, but we will still be responsible for the portion that they will not cover. If our copays, not unpaid portions, add up to $3,000 in a calendar year, they will consider paying 100% of reasonable and customary fees/procedures for the remainder of the year and we start back over at 0 Jan 1st. People have asked us to take her to Boston as they are leaders and researchers in healthcare and are recognized for their excellence in care for children. We have been told to go and take the risk, sacrifice, take losses, etc., However, we do have to be educated, prepared, and consider all of our children. My husband and I have called our insurance company 3 times asking to clarify coverage and consider circumstances. Good thing is we have insurance-grateful for that and am currently looking into seeing if a secondary insurance will cover out of state doctors and any prescribed treatments and expenses that our insurance will not. Enrollment period for additional insurance-Jan 1st. Philanthropist Actions: The community in which I work asked my sister-in-law how they could help support Brae, the family, and research as I had not shared all of this. As a result of communication, my sister-in-law started a fund on FB for medical expenses for Brae. When I shared my reluctance about receiving help for fear of judgments that we have a new home, car, food, and things others may not, some people assured me that any donations are for Brae's medical needs now and in the future. I was informed that instead of waiting to see what happens, it was a "proactive" effort to share information and offer a means for a caring community to provide a direct contribution to her care to be prepared. If you made to the end of this post, thank you for reading and the interest in Brae's journey. As anyone who has watched a loved one experience a serious illness, we did not expect this and were not prepared. Wish we all had a way to foresee the future and the wisdom to make the best choices. For now, we will do the best we can to continue to seek the best care, be patient, and stay faithful as the doctors try to figure out the best treatment for Brae. Easier said than done, but if I don't say it, I won't try to believe it. Love and hugs to everyone for the care, concern, contributions, compassion, and support. All are blessings for Brae and our family.
