Syndromes

Dr. Harder, who is our cardiologist, is pretty sure that Ashley does not have the Shone's Syndrome that I mentioned in the post I made about Ashley's heart conditions. There are some signs of stenosis at the bottom of her aorta, but they're still pretty confident that she doesn't have that particular syndrome. It turns out that Dr. Harder actually knows the Dr. Shone who the syndrome is named for, so she's pretty familiar with the whole thing.

Our pediatrician arranged a karyotype to be done on Ashley, to rule out the chance that she may have Turner Syndrome. Turner Syndrome is a condition in females where only one X chromosome out of the two is fully functional. They were already pretty sure that she didn't have it, as there are some definite physical attributes associated with Turners that are not present in Ashley's physiology, but coarctations of the aorta, and bicuspid aortic valves are some of the symptoms, so they ran the test just to be sure. Her chromosomes came back normal, so it's another syndrome we can rule out I guess.

We recently met with an optometrist to have Ashley's eyes checked out, and it turns out that she does have an eye condition called Horner's Syndrome. It occurs in a lot of patients who undergo heart surgery as a result of damage done to the sympathetic nervous system during the operation. For some reason, the nerves that control the muscles around your eye, loop down into your chest before they connect up to your central nervous system, and those nerves can easily be damaged when incisions are made into your chest cavity. This is what has happened in Ashley's case, and the bottom line is, her left eyelid droops down a bit more than her right one, and her left pupil experiences a bit of dilation lag. She doesn't really exhibit any of the other symptoms associated with Horner's, so the optometrist thinks it's a pretty mild case, and it may just correct itself within the first year of her life. If it doesn't, some minor surgery when she's a bit older will take care of it completely. The only thing that might be lasting, is that she may grow up to have different coloured eyes. She may think that's cool though, so no big deal.

The other reason we visited the optometrist is because Ashley is on oxygen, and that can lead to an over-production of blood vessels in the eye, which can cause the baby to have vision problems. A lot of babies who have to be on oxygen end up with glasses at a very young age, and some end up blind, but the optometrist liked what he saw when he tested Ashley's eyes, so we're hoping that that won't be the case for her. At our last respiratory appointment, they were able to lower the amount of oxygen she's on to 1/4 litre per minute, so that will probably help a lot too.

Other than that, Ashley's doing really well. She's gaining weight, and one of her VSD's is closing up nicely. We just continue to pray for her and enjoy her sweet little face. She's vocalizing more and more each day, and has been laughing a bit this past week when we talk funny or tickle her a bit. Her favorite thing to do these days is to pull her oxygen tubes down out of her nose and into her mouth so she can make drool bubbles using the air that's coming out of them. We tell her she's not supposed to do it, but she just gives us a frustrated grunt and waits for our backs to be turned so she can do it again. We almost have to tape them to her nose to keep her from doing it sometimes. Cheeky monkey.