Our daughter Maddie was diagnosed with Chronic Granulomatous Disease in January of 2019. This diagnosis came after years of her being sick with multiple infections and severe Crohn’s disease. At the age of 6 she was diagnosed with Crohn’s disease. After never getting any better after many different medications and surgeries over an 11 year period I was always waiting for the other shoe to drop. It always felt like we were missing something. After enduring partial colon resections, obstructions, small bowel resections, an ileostomy, years of feeling miserable, times we thought we would lose our daughter and never really getting the opportunity to attend school as normal and just be a kid that shoe finally dropped. It was at a point we were backed against a wall with her Crohns disease getting worse and no medication options left. She was not a candidate for research meds due to her many bowel surgeries. We were out of options.
In January of 2019 the diagnosis of Chronic Granulomatous Disease (CGD) gave us the reason why she has never responded to typical treatments. After seeing an immunologist and geneticist and doing some testing it was determined she had a rare immune disorder called chronic granulomatous disease (CGD). They believed the CGD was the cause of her severe Crohn’s and history of multiple infections. With consults and input from the National Institute of Health, Boston Children’s, Mayo Clinic and University of Minnesota it was determined a bone marrow transplant was the only answer to try and get her better. She would undergo 12 days of intense chemotherapy to kill off her immune system and bring her counts to 0, then receive bone marrow from her brother who ended being a perfect match! The hope was we could reset and rebuild a new immune system kicking out both the Crohn’s disease and her CGD.
On August 30th she started her BMT journey. After 12 long days of intense chemo, she received her brothers bone marrow on September 11th. Maddie’s brother Gavin is a cadet at the United States Air Force Academy and has limited time away. Maddie’s physicians coordinated things with the Academy and it was determined it was best Gavin did his bone marrow harvest ahead of Maddie starting chemo to ensure his sample was available. As a result they have to use a preservative to store his bone marrow until she was ready. That preservative ended up causing some issues in her body. Within 8 hours of transplant Maddie went into kidney failure. As a result she ended up on dialysis for a period of time. Although she continues to have abnormal kidney function numbers today, things are stable but it is unsure if she will have some chronic kidney disease as a result. We are happy to say the transplant worked to cure her CGD and are hopeful her Crohns will also improve.
Maddie was hospitalized from August 30th through the middle of October. Her and her mom stayed within 30 miles of the hospital until December 20th while she needed several appts a week. Although they are home now, she still needs to be down at the clinic approximately 1-2 times per week for appts. This is about an hour and 30 min drive each way. We are a 2 income family and it has taken a toll on us not only emotionally but financially as well. Her mom has been out of work since August caring for her with no PTO available due to years of caring for Maddie. In addition, on September 9th Maddie’s dad was injured at work. He had 3000 lbs of granite slabs fall on his leg while making a delivery that resulted in surgery, rehab and 4 months of missed work. As of beginning of January he is finally back to work. Going from a two income family to only receiving partial pay through workman’s comp for one person is hard on a household.
Any help to get us through this rough time is greatly appreciated and would help relieve some stress in an already overwhelming situation.