This is a page for supporting Yssabelle through her diagnosis and treatment of Systemic Mastocytosis. Here is her story from the beginning ...
Yssabelle was born July 23rd 2009 at 1:15pm. She was 6lbs 11 oz and 20 inches long. There were no complications with pregnancy or with delivery until the nurse forgot to call my delivery doctor. She was in the birth canal for over twenty minutes when she decided to place her foot on my ribs and shove herself out. My dad was standing at the door when the nurses screamed catch the baby. Her head was so elongated she looked like one of the children off of The Cone heads. At first there were no complications because of her prolonged stay in the birth canal. At around 1 am I was laying in bed and Yzzy was sleeping her bassinet. I had a gut feeling that something was wrong, very wrong. I jumped up to check on her and found her blue and unresponsive. I paged the nurse and picked her up to see is she had something in her mouth she was so ridged she was holding her head up. By the time the nurses arrived I had her breathing and responsive. The nurses tried to tell me that it was my imagination and she may have just had something in her mouth. I had them take her to the nursery to check her over. They believed it was just left over mucus in her mouth that she choked on. About 12 hours later I was alone sitting in my hospital bed holding Yzzy and watching T.V. when I looked down and realized that she was blue and unresponsive. I paged the nurse and they whisked her off to the Nursery. I waited in my room for my family to arrive before I went down to the nursery to sit with her. I was only in there a few minutes before they made me leave so they could take blood and do x-rays of her chest to see if there was still mucus in her chest. While I was standing outside the nursery watching through the window Yzzy flat lined. I remember slowing sliding to the floor and bawling. I didn’t know if my child was alive or not at that point. My Dad went to different areas of the hospital to find a nurse we knew to get her to go inside the nursery to just make sure she was breathing. At that point they had her breathing and were working on getting her stabilized and moved to the NICU. It was seven hours before we were able to go see her in the NICU. Those were the longest hours of my entire life. When we able to go in the NICU Yzzy was on a respirator and multiple IVS. The sight was heart breaking. Yzzy had 26 seizures over 4 hours before they were able to get her stabilized. She was on a respirator for three days before she was stable enough to be off of it. What was causing her seizures was that the pressure from being in the birth canal for so long caused her brain to bleed around her ventricles. It was another week before she was taken off of oxygen completely. The schedule in the NICU was that only two people could be inside at a time and only between the hours of 8am to 6pm and 8pm to 6am. While everyone visited her during the day my dad stayed and held her all night so she was never alone. Yzzy was finally able to come home August 3rd weighing a total of 5lbs 8 oz. She was tiny. She came home on an apnea monitor so that if she stopped breathing in her sleep we would know. That thing was the WORST if you forgot to plug it in or if (our case) you child hated car seats and screamed her head off any time she was in one setting the high heart rate alert off. We were blessed with the fact that she only set the apnea alert off once. She had no long term damage from her seizures or from the medications she had to take every six hours on the dot. As far as the Doctors were concerned we had a 100% healthy little girl six months after her birth. Except for one thing, as Yzzy calls them, her spots. At four months old she had a biopsy done on one of her “spots.” The demonologist confirmed that her spots were only pigmented hives that became red and raised with different allergens. So we have spent the last 4 years thinking that she would eventually grow out of her hives and be fine. Well, recently Yzzy has been in a lot of pain. Not only the constant pain she is always in but debilitating pain. See, we thought that Yzzy was lactose intolerant, so we associated her daily tummy aches with that. Turns out that she is not lactose intolerant or gluten intolerant. After we were referred to OU’s Children’s Hospital GI department, we have since learned a lot of Yzzy’s pain is from her body not functioning properly. After much testing and late nights with unimaginable pain we finally are getting answers. She had a scope of her upper and lower GI tract done on March 5th. They found Mast Cells, the “spots”, inside her lower GI tract. Along with a Positive CD25 test result. She has also been referred to an Immunologist because her blood test came back with indication of primary immune deficiency disease. What a positive CD25 test result means is that she has systemic mastocytosis. Systemic Mastocytosis is a condition caused by the accumulation of mast cells in more than one part of the body. Mast cells contain substances such as histamine that regulate allergic reactions. In systemic mastocytosis, mast cells build up in the bone marrow, internal organs and in the skin. This condition is usually diagnosed in adults and is rare in children. Treatment is generally based on symptoms, but it includes antihistamines and, in the more aggressive form of treatment, chemotherapy. Earlier this year, Yssabelle started having episodes of severely high fever (over 104) without a known cause. She often had liver inflammation and nausea/vomiting during these episodes. We did many tests but were not able to identify the cause. Yesterday, Yssabelle was admitted to the hospital. She had thrown up bile several times and then began vomiting blood. She has an active bleed in her stomach. Her red blood cell and platelet counts are low and her body is having a very difficult time clotting. She received some medicine today to help her clot and once she can clot, they will decide how best to deal with her bleed. After several months of not knowing what was causing these increasingly severe episodes, Yssabelle was diagnosed today with hemophagocytic lymphohistiocytosis (HLH). Hemophagocytic lymphohistiocytosis is a disease that causes excessive production of certain white cells. These white cells also release massive amounts of inflammatory molecules called cytokines, so many that it is called “cytokine storm.” These inflammatory molecules affect the body in many ways. It can make the liver and spleen swollen and affect how well they function. Blood cell counts are lower than normal. Since platelets are often low, patients may have a difficult time clotting. Ferritin, a form of iron, is found in the bloodstream in very large quantities. Triglycerides are also often high. HLH is a very serious condition that can occur as a primary disease or secondary to something else. At this point, we think it is maybe secondary to her mastocytosis. We need more testing to know. SM can also cause a lot of the same symptoms, like the swelling and dysfunction of the liver and spleen. It is possible that some of her regular symptoms are partly from HLH and that treating it would improve her baseline symptoms. Because SM and HLH are both inflammatory conditions, they could irritate each other, so we have to be careful to watch for reactions. She was moved to the hemonc floor today and will start treatment in the morning for HLH. We are very relieved to have an answer for what is happening and are hopeful that treatment will be effective and give her a long remission from HLH. Thanks for thinking of us and we appreciate the love! I love you guys!
***April 2014 Yzzy underwent a Bone Marrow Biopsy. The results were that there was 1% bone marrow involvement. Also since the C-kit mutated cells were not specified there is a concern for progression of the disease.
