MIRAGE syndrome

We recently sat down with our primary bone marrow transplant Doctor, Dr. Olson, and discussed some new information that he received from Baylor, Texas. Baylor is where all of Charlotte's genetic testing has been done because they are the best in the country. So, the University of Maryland sent all of their genetic tests to them since Charlotte was born. Up until this week, Baylor had not been able to find a genetic cause for Charlotte's bone marrow failure. However, they recently found out that there was a study done in Japan that was just published this month which studied 11 subjects who have MIRAGE syndrome. This syndrome is caused by a genetic mutation that spontaneously occurs in a person's DNA. Charlotte's has this mutation. MIRAGE is an acronym for several organs that can be affected by the genetic mutation. Severe GI problems is one of the components of this syndrome. Myelodysplasia is also one of the components. This basically means that the bone marrow does not make blood cells well. Transplant is the only cure. Charlotte's transplant has been successful. Growth restriction is a component of the syndrome. We don't know much about that part of her syndrome yet. She may always be little. Adrenal problems are another component of the syndrome. Charlotte has been having difficulty with electrolytes and blood pressures since her transplant. Now that we know she has MIRAGE syndrome, the bone marrow transplant doctors consulted with an endocrinologist who recommended that Charlotte be started on daily hydrocortisone which will replace the steroids that her adrenal glands are not producing. MIRAGE syndrome is not hereditary. It occurred spontaneously which is called a "de novo" mutation. This is good news for us, because it means this is not something we can pass on to our future children. The key word is "future" children. We have been very worried about not being able to have more children, because we had the chance of giving the syndrome to other children. That will not be the case. We are so happy about this new information. We are blessed that Charlotte has been treated by the best doctors in the country from genetics in Texas to hematology in Maryland and bone marrow transplant in Philadelphia. In other good news, Charlotte's mask restrictions have been lifted, and so anyone who is around her no longer has to wear a mask. She is able to go out in the hallway now because she doesn't have to wear a mask. We have taken several trips in the wagon and push car. She is a little shy because she has been so isolated. However, her social personality is coming back little by little everyday!