Daniel's Fight with STAT 3 GOF
Donation protected
Daniel’s Story was published in the American Medical Journal. I am posting the link because this will better explain it then I can. It is still very confusing to me.
https://www.frontiersin.org/articles/10.3389/fped.2017.00049/full
I will tell you a little bit about Daniel now. Daniel is now 16. He had the most amazing 16th Birthday this year to cheer him up. The entire township came together to make him have a great day. Pictures posted on his page. At age 14 he was diagnosed with the STAT3 GOF gene mutation causing his autoimmune issues after his doctors here could not figure out what was going on with him. He was sent to The National Institute of Health in Bethesda, Maryland. They did genetic testing and was finally diagnosed with this gene mutation. Daniel has 3 brothers and 1 sister and they were all tested for the same gene mutation along with myself and his dad, Chris. His dad Chris started showing signs of having this 1 year ago and the test showed he was the carrier of this gene. The other children have been tested and they are in the process of double checking their results at NIH.
Daniel has not been to school since 6th grade. It is too dangerous for him to be in a school setting. He wants to go so badly but we cannot chance it. Too many people send their children to school sick. If he caught something it could kill him. Daniel vaccines do not take so he has no immunity to childhood diseases. He was vaccinated up to the age 9 when they said he has no immunity.
Daniel and his dad have Lung Disease (holes in the lungs) bleps. Daniel also has Neutropenia( the presence of abnormally few neutrophils in the blood, leading to increased susceptibility to infection. It is an undesirable side effect of some cancer treatments (he had 4 rounds of a chemo drug called Retuximab that killed of his T and B cells.) Daniel also has Evans Syndrome below you can read about.
Evans syndrome is a rare autoimmune disorder in which the body makes antibodies that destroy the red blood cells, platelets and white blood cells. Patients are diagnosed with thrombocytopenia and Coombs' positive hemolytic anemia and have no other known underlying etiology. The patients may be affected by low levels of all three types of blood cells at one time, or may only have problems with one or two of them. The specific cause for Evans syndrome is unknown and it has been speculated that for every case, the cause may be different. There have been no genetic links identified.
The course of Evans syndrome varies by case. The patient may be symptomatic of whatever blood levels are down. If the red blood cells are down, the problems complained of may be weakness, fatigue, shortness of breath and the usual things associated with anemia. With low platelets, they are susceptible to bleeding and major bruising from minor bumps and cuts. A bump on the head could cause severe brain hemorrhage and death. With low white blood cells, the patient has increased susceptibility to infections and difficulty in fighting these infections. The patient may have problems with one, two or all three of these blood lines, at one time.
Treatment of Evans syndrome varies and there has been no "magic bullet" identified that will cure this. Steroids are frequently used to help suppress the immune system, or to decrease the production of the "bad antibodies". Intravenous immune globulin or IVIG is often tried as is chemotherapy when responses to other treatments are not satisfactory. Splenectomy has frequently been done, but the benefits of this are usually short-lived. In the last study done, the beneficial effects from splenectomy had only lasted an average of one month. Closely monitoring the patients' complete blood count is crucial to the patients' treatment. Transfusions, of blood products, is done in crisis situations to help stabilize the patient but is not a long lasting solution as these cells are usually destroyed very quickly by the body.
The prognosis with Evans syndrome is guarded. Some patients have episodes of major blood cell destruction followed by long remissions, while others have chronic problems with no remissions. It has been reported that patients with Evans syndrome have a greater tendency to develop other autoimmune disorders such as lupus and rheumatoid arthritis and there is a tendency to develop various malignancies. Careful monitoring of the patient by a qualified physician is very important.
http://fnd.us/c/8GVgd
Daniel’s go fund me link I am posting here as well. We appreciated all donations. We use them for travel expenses, his medical expenses and home expenses. As with his dad being sick now and on chemo just like Daniel we have fallen behind on a lot of bills. Slowly catching up now. Thank you all so much. Please continue to keep Daniel, Chris and the other kids in your prayers.
https://www.frontiersin.org/articles/10.3389/fped.2017.00049/full
I will tell you a little bit about Daniel now. Daniel is now 16. He had the most amazing 16th Birthday this year to cheer him up. The entire township came together to make him have a great day. Pictures posted on his page. At age 14 he was diagnosed with the STAT3 GOF gene mutation causing his autoimmune issues after his doctors here could not figure out what was going on with him. He was sent to The National Institute of Health in Bethesda, Maryland. They did genetic testing and was finally diagnosed with this gene mutation. Daniel has 3 brothers and 1 sister and they were all tested for the same gene mutation along with myself and his dad, Chris. His dad Chris started showing signs of having this 1 year ago and the test showed he was the carrier of this gene. The other children have been tested and they are in the process of double checking their results at NIH.
Daniel has not been to school since 6th grade. It is too dangerous for him to be in a school setting. He wants to go so badly but we cannot chance it. Too many people send their children to school sick. If he caught something it could kill him. Daniel vaccines do not take so he has no immunity to childhood diseases. He was vaccinated up to the age 9 when they said he has no immunity.
Daniel and his dad have Lung Disease (holes in the lungs) bleps. Daniel also has Neutropenia( the presence of abnormally few neutrophils in the blood, leading to increased susceptibility to infection. It is an undesirable side effect of some cancer treatments (he had 4 rounds of a chemo drug called Retuximab that killed of his T and B cells.) Daniel also has Evans Syndrome below you can read about.
Evans syndrome is a rare autoimmune disorder in which the body makes antibodies that destroy the red blood cells, platelets and white blood cells. Patients are diagnosed with thrombocytopenia and Coombs' positive hemolytic anemia and have no other known underlying etiology. The patients may be affected by low levels of all three types of blood cells at one time, or may only have problems with one or two of them. The specific cause for Evans syndrome is unknown and it has been speculated that for every case, the cause may be different. There have been no genetic links identified.
The course of Evans syndrome varies by case. The patient may be symptomatic of whatever blood levels are down. If the red blood cells are down, the problems complained of may be weakness, fatigue, shortness of breath and the usual things associated with anemia. With low platelets, they are susceptible to bleeding and major bruising from minor bumps and cuts. A bump on the head could cause severe brain hemorrhage and death. With low white blood cells, the patient has increased susceptibility to infections and difficulty in fighting these infections. The patient may have problems with one, two or all three of these blood lines, at one time.
Treatment of Evans syndrome varies and there has been no "magic bullet" identified that will cure this. Steroids are frequently used to help suppress the immune system, or to decrease the production of the "bad antibodies". Intravenous immune globulin or IVIG is often tried as is chemotherapy when responses to other treatments are not satisfactory. Splenectomy has frequently been done, but the benefits of this are usually short-lived. In the last study done, the beneficial effects from splenectomy had only lasted an average of one month. Closely monitoring the patients' complete blood count is crucial to the patients' treatment. Transfusions, of blood products, is done in crisis situations to help stabilize the patient but is not a long lasting solution as these cells are usually destroyed very quickly by the body.
The prognosis with Evans syndrome is guarded. Some patients have episodes of major blood cell destruction followed by long remissions, while others have chronic problems with no remissions. It has been reported that patients with Evans syndrome have a greater tendency to develop other autoimmune disorders such as lupus and rheumatoid arthritis and there is a tendency to develop various malignancies. Careful monitoring of the patient by a qualified physician is very important.
http://fnd.us/c/8GVgd
Daniel’s go fund me link I am posting here as well. We appreciated all donations. We use them for travel expenses, his medical expenses and home expenses. As with his dad being sick now and on chemo just like Daniel we have fallen behind on a lot of bills. Slowly catching up now. Thank you all so much. Please continue to keep Daniel, Chris and the other kids in your prayers.
Organizer
Dawn Marie Santivansky-Applegate
Organizer
Roebling, NJ