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!

Intensive Care Unit

It's been a long, busy month. Recovery from a bone marrow transplant is a slow but complicated process as the body is trying to heal. The doctors had placed a tiny spaghetti sized J tube in Charlotte's stomach due to her small size. This tube bypasses the main part of the stomach and is inserted into the lower half of the stomach, the jejunum, which decreases the chances of food being vomited back up out of the stomach. However, the J tube kept coming out of where it was supposed to be in her stomach, and so it had to be replaced 4 times. The 5th time, Laura had to advocate for the larger sized J tube, which is a sturdier device, against most of the bone marrow transplant team's wishes. The doctors were afraid the larger J tube would block Charlotte's intestines due to her small size. If the larger J tube was not placed, Charlotte would remain on TPN which is a form of IV nutrition that she has been on while she recovered from mucositis. TPN can be bad for the liver, so Laura made the decision to have the surgeon place the larger J tube. If the tube caused a blockage, it could be taken out. Well, the larger J tube worked much better than the smaller sized tube. Therefore, Charlotte has been able to go back on formula for nutrition, which is much better for the stomach. Introducing formula again allows the stomach muscles to begin working and getting stronger. However, in true Charlotte fashion, the GI process has not been an easy road. She has been having diarrhea which is causing her electrolytes to be abnormal. Electrolytes are minerals in your blood and other body fluids that carry an electric charge. Electrolytes affect how your body functions in many ways, including: The amount of water in your body, the acidity of your blood (pH), your muscle function, and other important processes. Common electrolytes include: Calcium, Chloride, Magnesium, Phosphorus, Potassium, and Sodium. Charlotte has been having difficulty maintaining her electrolytes. She has also been getting infections. Infections are common as the body's immune system is suppressed after transplant. The doctors start antibiotics, but as soon as the antibiotic stops, the infection comes back. The doctors performed an MRI to see if they could find the source of the infections, and found an old blood clot in Charlotte's arm. They started her on blood thinners for a few weeks in hopes to get rid of the clot. They think the blood clot is the source of the infections. Each time that Charlotte gets an infection, her electrolytes and her blood pressure change drastically, and she has to go to the ICU for closer monitoring. The unbelievable part is that you would never know how out of control Charlotte's body is by looking at her. Even as they are transporting her to the ICU, Charlotte looks like her typical happy self. While on the ICU, Charlotte developed a rash. Rashes are common after transplant. The body sometimes tries to attack the new donor bone marrow which can cause a rash. This is called "graft versus host disease." However, the doctors don't think that Charlotte's rash is necessarily GVHD related. They think she may have had an allergic reaction to something. The doctors started a steroid, and the rash went away very quickly, so the doctors were pleased and stopped the steroid. The doctors have explained that until she can maintain normal levels in her body, we can not go home. Unfortunately, it looks like we are going to be here for a while. The exciting news that we have to share is Charlotte has started walking! She has put on her first official pair of shoes. She pushes her baby walking toy and takes several steps now unassisted. Soon we will be chasing Charlotte everywhere. We can not wait!