My second daughter, Jenna, was born after an uneventful pregnancy. She was our second and everything was much simpler than the first because we knew what we were doing! Jenna was born full term after about an hour of labor on a beautiful morning in August, 2001. All of the hospital tests cam back normal and we went home together after 36 hours.
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Carly, Jenna and Riley
Christmas 2005.
Riley and Jenna both diagnosed with CDG-type Ia
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We didn’t really notice anything wrong with Jenna until our pediatrician, Dr Omalara Dairo, told us she was a little concerned about Jenna’s muscle development and head control at 4 months. She should have been stronger. Her eyes were also a little crossed. Nothing big, just something to look at.
At 5 months we were a little more concerned. At six months we were told to have a battery of blood tests and a CAT scan at children’s hospital in Columbus, Ohio. The blood tests came back mostly normal, a mild case of Von Willebrand’s disease as well as an elevated level of MTHFR, but those conditions were not our issue. The CAT scan showed two infarcts; one on the underside of Jenna’s left frontal lobe, the other on her cerebellum. Devastating news to hear your six month old had a stroke but because of the appearance of scar tissue on both infarcts, it was believed the stroke occurred in utero, more than six months earlier. We were looking for the reason they occurred so as to be able to prevent any more. Jenna was now a very happy 7 ½ month old girl, very giggly but still not strong enough to get her head off her chest or come close to rolling over. We had her in therapy at children’s once a week and worked with her everyday ourselves. We were still scared but more hopeful for a positive outcome.
We saw every specialist at children’s. We were still looking for the cause of the stroke when we found out my wife was pregnant once more. We contacted a specialist to watch the pregnancy closely and in December of 2002 our third daughter, Riley was born. Another uneventful pregnancy and delivery.
Not more than a few weeks into Riley’s birth we started to see the same muscle control issues with Riley we had seen in Jenna. We still had no diagnosis for Jenna’s condition but now we had a reason to contact a geneticist.
Seeing the geneticist was at first disappointing because he was stumped as well. Our pediatrician came with us to the second appointment and they discussed the possibility of CDG. Although neither had ever seen a case of it before and the girls showed none of the obvious signs other than mild strabismus and ataxia, the tests were done. We didn’t think they would come back positive but they did. Dr. Freeze confirmed the CDG 1a in both although I have gone back to him and asked him to look at the tests again. They just do not fit the stories I read about in the list serv and websites. Jenna just received her evaluation from our local school district and her only issues were physical. All cognitive testing came back as age-appropriate. Riley also was evaluated by our county MRDD with the same results.
My wife and I have great hopes for all three of our daughters. Jenna and Riley will have more to overcome than their sister and cousins but that, we believe, will make them stronger.
eff:02/21/05