Make A Child Smile

Gabby's Story
written by mom Tammy

My pregnancy with Gabby was not a planned one, but it was a pleasant surprise. My husband and I were thrilled to be having a second child. I carried her full term, without any complications, other than her having a lot of amniotic fluid and being able to flip and turn; thus my obstetrician feared she could possibly be a breech birth. Thankfully she was not.

Gabby was a "normal" child until the age of 18 months old. At that age she first started to develop these odd raised hive like rashes & extremely (107+) high fevers. This was a our 2nd child - so I knew what to expect and this wasn't it. The pediatrician kept saying she had a "virus"; however, the fevers never really broke. They would go down to 102-103 with Motrin and Tylenol - but were never the normal 98.6.

Gabby then developed enlarged lymph nodes in her neck as well as inflamed joints. The Saturday before Easter in 2000, she went into convulsions and quit breathing. We had to administer CPR and call the paramedics. Her little lips were blue. After putting her on 10 lpm of oxygen and taking her to the hospital they came up with nothing other than "virus" again. She was living on Motrin & Tylenol. Her joints hurt so bad some morning she would literally crawl downstairs on her hands and knees. Her appetite was non-existent. She only wanted to drink milk. I could literally see her wasting away in front of my eyes - but nobody would listen. I called CHOP (Children's Hospital of Philadelphia) and spoke with the attending ER physician who said to bring her in. They immediately admitted her and started to do a regiment of tests. Her SED rate, for inflammation, was 161. Normal for a child her age is less than 5. After 4 days they came up with possible "cat scratch fever" put her on an antibiotic and sent her home. Six days later they called me to say the culture was negative and they didn't know what was wrong with her.

At the insistence of our family physicians PA he made an appointment for her with an out of town rheumatologist, that had an arthritis clinic. When he saw her he thought she had "Still's Disease", which is a form of JRA (juvenile rheumatoid arthritis). After 18 months of receiving Enbrel injections three times a week and a daily dose of Indomethacin, she still wasn't responding to treatment. Gabby was then referred to Hershey Medical Center to see Dr. Barbara Ostrov, their professor of pediatric rheumatology. Gabby improved with treatment from the specialist, but never fully to the point that the doctor was satisfied with.

Gabby was then referred to Dr. Daniel Kastner, the director of the NIH (National Institute of Health) in Bethesda, MD. Gabby continues to be a patient there and visits several times a year. They have diagnosed her with a rare neurological disorder called "Behcet's Disease". Behcet's disease is a rare, chronic inflammatory disease that include recurrent ulcers in the mouth (resembling canker sores) and on the genitals, and eye inflammation. The disorder may also cause various types of skin lesions, arthritis, bowel inflammation, meningitis (inflammation of the membranes of the brain and spinal cord), and cranial nerve palsies. Behcet's is a multi-system disease; it may involve all organs and affect the central nervous system, causing memory loss and impaired speech, balance, and movement. The effects of the disease may include blindness, stroke, swelling of the spinal cord, and intestinal complications. The disease is common in Japan, Turkey and Israel, and less common in the United States.

She has had, and continues to have, gastrointestinal problems and has endured endoscopes and colonoscopies; and has frequent bouts with GERD. She also experiences painful mouth ulcers and has had several genital ulcers as well. At the age of 7, and every 6 months, she has had to endure gynecological exams. She has had some speckled pigmentation on her cornea that must be watched and therefore must visit the ophthalmologist every 3 months and have her eyes dilated. Gabby takes 3 types of oral inhalers for her breathing and receives nebulizer treatments several times per day, as she has lost 21% of her lung capacity due to the disease. During Gabby's visit to the NIH in December of 2004 they also diagnosed her with Lupus and Sjorgren's Syndrome, which does occur as a secondary (and tertiary) autoimmune disorder, when the body has nowhere else to turn to, when it attacks itself. Because her disease effects her body's immune system, a normal 24 hours stomach virus for Gabby, turns into an in-patient hospital stay where it has taken 4-5 Ibags of IV fluid to rehydrate her.

She has been tried on various different medications (oral, injectable, etc.) in hopes of helping to stabilize her; and we thought they found the magical combination of 14 of them (which she currently takes twice daily - one being 1250 mg. of Cellcept - a medication used to prevent organ rejection in transplant recipients) but recent blood tests have shown that her levels are rising where they shouldn't be and lowering where they aren't supposed to... so our magical prayer for concoction was short lived. We have learned to treat her symptoms and help her through the day. The NIH physicians will change her medication again when she is scheduled for her next visit for the last week of February. Gabby continues to be a vivacious, normal child and for all intense purposes looks "normal".

This past December, Gabby and her sister, Annie, decided to have a toy drive for the Children's Inn at the NIH. The Children's Inn houses 59 families daily, 365 days a year, while the child is receiving medical care and/or treatment at the NIH. They were elated when 805 brand new toys along with $200 in gift cards were shipped to the Inn for the holidays. It was the single largest one time toy donation the Inn had ever had in their 19 years in existence.

Other than using a cane on bad days, or a transport chair, when she has to go longer distances, since her joints become inflamed and hurt, or having regular blood work, and tests, you wouldn't know anything was "wrong" with her. This is "normal" for Gabby - she does not know any different type of life. It is day to day, sometimes minute to minute (as my husband says), living with Gabby. You never know what her condition will do - when it will flare. We just know we are blessed to have her just for today.