Hi everybody my name is Cadi, I have a daughter who is going to be 7 on January 7th. She is the most amazing child ever. I had a very rough pregnancy with Savannah I was considered HIGH RISK. I was put on bed rest for the last 5 months of my pregnancy. Savannah was born at 37 weeks and 5 days. (She should have been born sooner). When she was born she weighed 4lbs 7oz she was tiny but she was healthy!!! As she was growing and developing I always had a feeling that something was not right. But the doctors keep telling me that she was fine... Savannah did not start fully talking until she was about 2. She did say mama and daddy and baba, but that was about it. At her 3 year well check I made the doctors refer us to an occupational therapist. I then learned that Savannah has a sensory processing disorder, we worked with the therapist for 6 months and they discharged us because Savannah had improved. Well about 6 months after services stopped so did everything else. Savannah behavior daily became worse and worse she was wanting to learn but she was not really remembering things. At her 4 year well check I brought up my concerns with her doctor who continued to tell me that there was nothing wrong with my child..... I since then have switched doctors!!! Savannah has a new doctor now and she is AMAZING!!!! We started seeing her in June and since then have gotten all the evaluations and tests that we should have gotten with the old doctor. Savannah has been diagnosed with having feeding difficulties, mixed development disorder, oppositional defiant disorder, PDD-NOS, mixed receptive- expressive language disorder, ADHD- combined type. Savannah has also been diagnosed with Vesicoureteral reflux (reflux of the kidneys) as well as sensorineural hearing loss. She has also been diagnosed with Fanconi Anemia (FANCA, FANCD1 but the mutation on this gene is still unknown). Eventually Savannah is going to need a bone marrow transplant. When this happens we will be living away from home for 6+ months.. We will be living at the hospital and the Ronald McDonald House. While my husband continues to go to work down here in Wilmington and come up to us on the Weekends. This is going to be a struggle emotionally, mentally, physically and financially.
Please read this. This will tell you about Fanconi Anemia....
Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconi’s anemia.
FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer).
Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems.
FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children.
Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems.
Bone Marrow and Blood
Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs:
Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled.
White blood cells, which help fight infections.
Platelets (PLATE-lets), which help your blood clot.
It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells.
If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur.
Fanconi Anemia and Your Body
FA is one of many types of anemia. The term "anemia" usually refers to a condition in which the blood has a lower than normal number of red blood cells.
FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems.
With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood can’t clot normally. As a result, you may have bleeding problems.
People who have FA have a greater risk than other people for some cancers. About 10 percent of people who have FA develop leukemia.
People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors.
The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.)
Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs.
FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors.
Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.
Please consider signing up to be a bone marrow donor at.... bethematch.org... You could save a life or many lives.
Please go to bethematch.org and read about being a donor and what tests are involved and how to donate..
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