My daughter and son-in-law have both been diagnosed with rare diseases. For the last year my daughter, Paula, was short of breath and feeling tired. By February she went to the doctors multiple times and was on medicine for a sinus infection and bronchitis. When her family was at Disney in March, her oldest daughter told her that her lips were blue. I remember her telling me that she didn’t feel terrible but could tell she wasn’t getting better. Paula made the mention of not getting enough exercise or maybe having double pneumonia, but didn’t think it was anything serious. On March 18, Paula went to the doctor and he sent her to the hospital to check her oxygen saturation. When she arrived at the hospital and was told that her oxygen saturation was 63 and she was in disbelief. They immediately took her to the Emergency Room and put her on 8 liters of oxygen and did a CT scan and X-Rays. 

The next 3 weeks were a scary blur. By Friday, March 22 Paula was in the OR to do a lung biopsy. By Monday, March 25, Paula was diagnosed with Pulmonary Aveolar Proteinosis, which is an autoimmune lung disease. Paula was in the OR again for a right lung lavage on Monday, March 25 and Wednesday, March 27 an attempted left lung lavage. The second lung lavage ended with her on extracorporeal membrane oxygenation (ECMO) for 4 days and then Friday, March 29 a successful left lung lavage.  During that time, Paula doesn’t remember much because she was intubated for 12 days and heavily sedated while on ECMO. During that time we didn’t know what the outcome was going to be. Since her first time in the hospital she has had another right lung lavage to try and improve her breathing and will be scheduling a left lung lavage in the near future.

 Paula is currently on oxygen 24 hours a day and gets tired and short of breath easy. Walking up steps seem to be the struggle that she is faced with each day. Paula has started a new drug that is not approved for her condition yet (we are hopeful it will be approved soon)! With Paula’s diagnosis comes multiple trips to Pittsburgh, Wexford and now Cleveland Clinic to have regular check-ups, blood work, and x-rays. Paula has also missed a lot of work and if she uses all her days, her leave will turn into unpaid time off.

My son-in-law has been diagnosed with a rare brain disease that affects his decision-making skills,  motor function,  and he has dementia like symptoms. His diagnosis is Fahr's Disease and it is hereditary, which means that my grandson and granddaughter also has the calcium deposits on their basal ganglia. His follow-up includes regular visits to the neurologist and neuropsychologist. He also has to be checked for seizures.  This family will have a long road ahead of them but my daughter is very positive and takes each day as a new day. I have set up this account to help lessen the burden for her and her family so they are able to focus on the recovery process and not the expenses.