I also noticed I haven't been clear on some of the things they have found out Caleb has. First, we found out Caleb has a syndrome called CHARGE by genetic tests. According to the Charge Foundation a case of charge is about 1 in every 9-10,000 births. The letters in CHARGE stand for: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness. Sometime CHARGE effects the child with each of these things are just partially. To find out more about CHARGE please feel free to visit http://www.chargesyndrome.org/about-charge.asp Caleb's anomalies do fall within these categories with CHARGE. He does have colobomas of the eyes, the back of the eye didn't close completely, however, they don't think it is severe enough and at this time they do not think it will effect his vision. He does have heart defects, two ASDs (holes in the heart) which have caused pulmonary hypertension. He does have a slight atresia of the choanae, narrowing of the nasal canal but not what they think is a significant one at this time. He does not at this type pose any retardation of growth or development or genital or urinary abnormalities. He does have ears that are low-set and a significant hearing loss in his left ear but good hearing in his right ear. They think that with the help of hearing aids and the ability to read lips he should be able to communicate normally. The docs said they would like to try hearing aids first to see how they help. It has been explained to us that CHARGE acts in a snowball effect in utero. The one mutated gene effects other genes during development. Therefore, that is why there can be many anomalies. Along with the items described above Caleb does also have three brain anomalies: 1. Hydrocephalus-water on the brain that is being treated with a VP shunt that reroutes the draining of the spinal fluid off of the brain. 2. Kiari Malformation-the cerebellum is smaller than normal and sits low onto the spine. They are hoping that removal of the water of the brain will allow the cerebellum to grow normally and hopefully lift off of the spine. If it continues to sit low on the spine they can try a surgery to try to remove pressure on the spine. 3. Partial Agenesus of the Corpus Callosum-the corpus callosum is the major bridge between the left and right hemispheres of the brain. This is how both sides of the brain communicate with one another. Sometimes this agenesus effects the individual (shaky balance/gate, hand-eye coordination may not be at its maximum, high tolerance to pain, the communication between the left and right sides may not be at its optimum) other times it does not effect them at all. He also has a hypoparathyroid that effects his calcium and phosphorous levels in his body. If the calcium is too low it can pose a risk of seizures. This is being controlled with daily doses of calcium. Cleft Lip and Palate which is being treated with a NAM ( a mouthpiece) that moves the palate and nose to prepare him for surgery. He is doing great with that! He also had sever hip dysplasia of both hips at birth. This was treated with a hip harness for the first 4 months of his life and he is now out of the harness and the hips will be watched closely when he learns to crawl and walk and then will be followed for the rest of his life. All of these issues are being treated by the wonderful doctors at Children's Hospital in Pittsburgh.
Along with the CHARGE Caleb has also been diagnosed with Aytpical DeGeorge Syndrome. He is the sixth case in the world. This Syndrome prevented Caleb from developing a Thymus. The Thymus is the part of the body responsible for creating and educating the cells that are responsible for immune system development. Caleb is now on the list for a Thymus Tissue Transplant which he will receive at Duke Medical Center in Raleigh Durham, NC. This transplant will hopefully allow Caleb's body to have a functioning Immune System. We should be at Duke University for approximately 5-6 months to see how his body reacts to the transplant.
We are hoping all goes well with the transplant and that Caleb will have a full-functioning Immune System as he grows. You can see from a previous post the success rates of Dr. Markert's previous surgeries on Immuno Suppressed babies. To read more about Dr. Markert and her technology please feel free to visit http://www.dukemednews.org/news/article.php?id=7983 to read how the transplant works. Please note Caleb does not have Complete DeGeorge he has Atypical DeGeorge, however, in either case the babies may not have an immune system.
After the transplant, Caleb still needs to have his cleft palate and lip repair and a heart surgery (we are not sure at this time if it will be open heart or a catheter that can be placed through a vein in his groin and up to his heart).