|Proximal 10q trisomy 46,XY,dup(10)(q11.23q23.2)
|Duane and Marlynn Sundet
August 23, 2000
A few minutes after Chase's birth, our doctor discovered a heart murmur, which she termed a "Gallop". We saw a cardiologist and learned that Chase had both a Ventricular Septal Defect and Atrial Septal Defect. As the days passed, we noticed that Chase was quite lethargic, had difficulty eating, and wasn't growing well, all of which we associated with his heart condition. At six weeks of age, he was admitted to the hospital to undergo a heart catheterization. At that time we were told that Chase was very anemic. He received a blood transfusion, which brought his hematocrit level back to normal. The transfused blood also helped the jaundice, which had been persistent since his birth, go away. Doctors determined that Chase suffered from hemolytic anemia as a result of his Ventricular Septal Defect. What this meant, in effect, was that Chase's blood was being "chewed up" as it was forced through the large defect between the ventricles in his heart. Neither our cardiologist nor the cardiothoracic surgeon had seen this happen before. Shortly thereafter, we were told that Chase's surgery should take place as soon as possible. At 11 weeks of age, Chase had open-heart surgery to correct his heart defects. We thought our biggest worries were behind us then.
Even after surgery, Chase still concerned the doctors because he arched a lot and didn't eat well. Several neurological tests had been performed to see if they could find a reason for the arching. Metabolic testing, EEG, MRI, Spinal Tap, X-rays, etc., all came back normal. The neurologist thought Chase's arching was probably due to reflux but decided it wouldn't be a bad idea to get a geneticist involved. Almost two months after his heart surgery, blood was drawn for chromosome testing. We assumed that this test, like all the others, would come back normal.
In the meantime, we noticed that Chase was definitely slower than our other son to reach some of his developmental milestones. This too, we believed, was only a result of his heart condition and that it would just take him a little bit of time to catch up. Then, at the end of March when Chase was 6 mo. old we received the news that Chase's chromosome analysis was completed. When we met with the Geneticist, he informed us that Chase had a duplication on his 10th chromosome. Our doctor was only able to find three other cases in the world with the span of duplication that Chase had. In addition Chase was the only boy with this diagnosis. We were of course in complete shock and devastated. This was overwhelming news to receive. The Geneticist had very little to tell us about this extremely rare syndrome, but did say that we could expect Chase to always be quite small and have some kind of developmental delays. For the most part, this was going to be a wait-and-see kind of thing. What made this news especially difficult, was the realization that neither we, nor Chase's doctors, would be able to do anything to fix this for our son. The diagnosis of proximal 1Oq partial trisomy wasn't like his heart defect that could be repaired. This was permanent.
As the initial shock subsided, our immediate concern became doing everything we possibly could for Chase. He currently receives physical, occupational, and speech therapies in our home on a monthly basis. We are extremely grateful for the help available in this area. Additionally, a nurse comes to visit Chase twice a month to monitor his health and growth. We are happy to report that since his heart surgery, Chase has been very healthy and has not had any recurrence with anemia. Today, one of our biggest concerns is feeding. At eleven months of age, Chase consumes mostly high calorie formula and weighs about 15 pounds. He doesn't seem interested in trying solid food.
As far as appearance goes, Chase has ears that are slightly low set with a thick helix, a bow shaped mouth, and small deep-set eyes (all part of the syndrome). He also has a ton of hair. Six haircuts to date! At birth he had very prominent overriding sutures on his head and indentations on the sides of his forehead. These have all gone down substantially now.
Chase still arches all the time. His favorite position seems to be balancing on the top of his head and tips of his toes (I understand that this is a wrestling move!). Chase smiled at 2 mo. and rolled over at 4 months of age. He has been sitting, supported by his hands since 6 1/2 mo., and crawling and pulling up to furniture since 9 1/2 months. Chase very rarely cries, and has a very mild temperament. He seem to be quite alert and interested in his surroundings and toys, but currently makes very few vocal sounds. He still does not laugh or giggle very often but does like to smile. He seems, at this point, to be more delayed in the areas of speech and social development than gross motor development.
Subsequent chromosome analysis on my husband and I has come back normal, which we were definitely relieved to hear. Apparently Chase's duplication is something that occurred spontaneously at the time of conception.
This has been an incredible and overwhelming year, but in the end we have so much to be grateful for. Chase is a beautiful baby boy and we find incredible joy in his every accomplishment. Our understanding of why things happen as they do is limited at this point in time, but one thing is for certain, we know Chase has an important purpose on this earth. Our love for him is beyond measure.