Wednesday, September 23, 2009

Maternity Specialists

This is the entry in which I revealed Bella has Down syndrome to my Facebook friends list. I'm posting it here as well because it contains the update for the appointment I went to yesterday afternoon.

Last Thursday my doctor called me around 1.00 PM with the results to the amniocentesis.

Little Bella does have Down syndrome. Her lab results showed three of the chromosome-21, which is make-up of someone with Down syndrome.

We cannot ever be sure of the severity of her syndrome, at least not prenatally, so that is to be determined as she grows up.

After the conversation I had with my doctor (whom I think expected me to fall into pieces on the phone but I never did), I of course wept. It's very sad, initially. I was shocked, confused, disappointed, angry and very hurt. The chances of someone at my age (22) to have a baby with Down syndrome is 1:1500.

Yes, I cried intermittently for a few days. I can't help but think the tears were mostly shock, because since Sunday I've been really okay. Miles has been a big help in making sure I'm mentally okay as well, though I think he half expects me to rip at the seams any moment, lol. I'm seriously okay :)

Of course we're both worried for her health (because with Down syndrome can come an array of health issues starting from birth). We're worried for her future and a little uneasy about what it's going to be like to raise a child who will need more time and patience than normal. We're looking forward to having her in our lives, and really can't wait to see her... but there will now always be worries.

My appointment with the maternity specialists from Sioux Falls was yesterday where they did an extensive ultrasound. The areas of concern were her heart, umbilical cord and her skull. We waited for an hour and a half before we even got into our appointment because they only come to Rapid City once a month. Being specialists, every patient they see needs some sort of extensive appointment and thus everybody was waaaaay behind. Next time I must remember to bring a book, my DS or crocheting because that was just awful!

It was really nice to see her again :) She has gotten so much bigger in a month, too! They estimate her gestational weight to be 2.5 lbs. I can't remember off the top of my head, but I believe that is where she's supposed to be. I had been very worried since I've only put on 1 lb. since my last visit (but I was wearing heavier clothes this time too since it's dropped to 49 degrees). In any case, it seems she's just stealing everything I eat :) Which I'm fine with.

So what did the specialist say?

Heart: She will still have to prenatally be seen by a pediatric cardiologist so as to further determine the severity of her heart defect (yes, there is one). He, the maternity specialist, saw a heart deficiency in the wall of her heart. To him it doesn't look as if it will need operation as soon as she is born (which is a common enough thing for babies with Down syndrome). She will, however, have to have surgery most likely between the age of 6 weeks to 3 months on her heart to correct this deficiency so that she can, of course, function. The surgery will have to take place in Denver, Minneapolis, Omaha or somewhere else. I can't remember the other city, but that is where she will have to go for her surgery.

Head: The swelling that was seen on her head is excess fluid around the ventricles in her head. These lead into the spine and usually flush out to the bottom of the spine, but as with most babies with Down syndrome... it doesn't work properly so there is excess. However, he said she only has a little bit... so this is good :) Nothing needs to be done here.

Other: There really is no "other"... since prenatally it's kind of hard to diagnose much but other than her heart and the swelling on her head there is no other concern right now.

The chances of her heart condition being severe are slim, but in the case that they are severe I will have to deliver her in one of the cities where she can be operated on ASAP. Otherwise, if she doesn't need immediate operation, then we can deliver her here in Rapid City. Both Miles and I hope that is the case, but we'll have to wait to hear what the pediatric cardiologist thinks.

I will be getting a call today from the maternity specialists who're scheduling the appointment with the pediatric cardiologist this morning. I will most likely be scheduled for Monday or Tuesday. Alongside my typical check-ups with my OB/GYN, I will monthly be seeing the maternity specialists as well. I'm not sure how often I'll be seeing the pediatric cardiologist.

I've already read one of the highest rated books on babies with Down syndrome :) (Haha, amazing what amount of content you can consume and retain when it's really important to you). My doctor will be hooking us up locally with different support groups and such that will help us by nearly mentoring since these will be parents with children with Down syndrome as well. At this juncture, we're going to need all the information and help we can get!

Both of our families have been very supportive, and we both are very excited for when she is born :)

From here on out I will be doing lots of updates on my appointments with the various doctors. Mostly if there's new or, God forbid, startling information. If you wish to be un-tagged for the rest of the updates, let me know. I won't be offended :)

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