Charly
Partial Trisomy 16; unbalanced inversion
Charly was very small during the pregnancy, BUT the doctor said, it would not be a problem and decided to simply postpone the delivery date three weeks. However, Charly came two weeks before the first computed delivery date. The birth lasted relatively long but as Charly was born, he did not cry. He was immediately given oxygen. The doctor looked at us for a long time with a peculiar look, as he searched for some words of comfort. He explained he was unable to help, that Charly would look different, he had a cleft palate and a heart-murmur (he was also very small 42cm high and weighed 2590 grams). He was taken immediately to a children's clinic. I had to wait to go with him, I will never forget that overwhelming feeling.
The next day I could leave the hospital and we drove right away to see Charly in the clinic. It was so sad to see him lying there. He was so small. The doctors had no idea what to do. Because of his heart problems he had to go to another hospital in Goettingen (a city) in the cardiology department. He was taken in an incubator to the hospital by an ambulance, and he was also taken in an incubator to every test. It was discovered that Charly had ASD, VSD, an aorta and pulmonary [problem]. He was very weak and was given a stomach probe. One day later his condition worsened, he had a ruptured hernia on both sides and had an immediate operation.
After that he was in the intensive care for three weeks. There was blood taken for a genetic test, however, we trusted the doctors, who thought it would eventually be Pierre-Rubin Syndrome. We stayed another four more weeks at the children's clinic, and then someone said to us that the genetic test discovered that Charly had a partial trisomy 16p because of an unbalanced inversion. The doctors told us Charly would not live long (my mother and I have a balanced inversion). Because of this we could take Charly home. BUT after two weeks we had to go back to the cardiology department for three more weeks, because the situation got worse for Charly and no one knew why. They helped him get better and then we finally were able to go home.
Now Charly was already 12 weeks old. He was so unruly, cried often (quiet and miserable) and seldom had he opened his eyes. He must still now and again go to a hospital because of bronchitis or stomach-intestinal-flu. BUT that is the exception. Charly has always been small and light, however he continually became quieter and more peaceful, and at five months old, he laughed for the first time. Charly has a strong developmental disability, he has turned to Vojta, received early aid from counseling and must develop his speech with phonics. He can not sit or crawl, however he is so cool! We are so proud of him, because he has gone through so much. He is a small fighter! We love him so much. Also, the whole family loves him just how he is. Unfortunately, there are some people, even close friends, who treat him unfairly, but that does not concern us.
I must also write, how happy we are, that there is an organization out there, because here we found no one who has this sickness and the doctors also no little about it.