Natalie Confirmed to Have Down Syndrome

(David) Amy wrote a long post today with a lot of really good information. However I want to first say how much I appreciate everyone’s prayers, encouragement, and offers of help.  We appreciate this very much.  The list of those who have encouraged us and offered help is larger than I can count.  We are overwhelmed right now, so please have patience if we don’t respond right away.  We will likely come back around to everyone when we have the chance.

(Amy) Today the Doctor confirmed that Natalie has Down’s syndrome. They took a sample of 5 cells to study the chromosomal count. Healthy humans have 46 chromosomes grouped into pairs (23). Down’s occurs when the 21st chromosome pair has an extra chromosome. Natalie’s chromosome test confirmed that she has 3 of the 21st chromosome. They tested 5 separate cells from different locations on her body, and in all cases they had 3 of the 21st chromosome. Next week, we’ll get the results of a 20 cell sampling but it’s not expected to be any different.

Tomorrow, we’ll visit with Natalie at 7:30 and prep for surgery at 8:30. The surgery should start at 9:30 and take 1.5 to 2 hours. In the surgery they will connect the separated sections of the duodenum.

Currently she has a suction tube going into her stomach to remove the contents. It collects in a small jar outside of her body.  After the surgery, we expect the contents from here stomach to be green for a period of time. When the contents have gone from greenish color to clear, we will know the stomach has been healed enough to allow her to eat. They will then put a feeding tube into her nose and start giving her breast milk.

So far, I’ve only been able to pump a few drops of milk. I am desperately trying to pump more milk, but the lactation consultant is not worried. With Natalie’s early birth, her not eating on me, it’s not unusual for a slow start. The lactation consultant told me that the initial milk actually has healing enzymes for gastrointestinal issues, so I’m praying I’ll be ready by the time Natalie is able to eat.

Once she’s feeding well we should be able to take her home. Her echo on Wednesday did show 3 small holes in the membrane between the left and right heart ventricles, but they have told us that children usually grow out of those.

The genetics doctor told us today that we should start trying to get in-home physical therapy for her from the county by 2 months and definitely raise a ruckus if we are not set up by 4 months. We will see the genetics doctor at 6 months and a year for checks ups, as well as her regular pediatric visits. There seem to be a lot of support groups for Down syndrome parents in Charlotte, so will start looking into that soon.

Our immediate needs:

1. Prayer for the surgery Friday.  Her surgery starts at 9:30 am.  Pray that the doctor’s have wisdom, she avoids infection, and the surgery is successful.
2. Rides for me (Amy) to the hospital between 9am and 12am for the next 2 weeks while I’m unable to drive. Possibly afternoon rides if I can find childcare for Zach and Julia.
3. Possible afternoon play dates for Zach and Julia so I can go to the hospital.
4. Continued rides to and from school for Zach and Julia- thank you SO MUCH to all of you who have been helping.
5. Possibly a ride for Zach to the orthodontist on Monday, January 24th. Our orthodontist is Dr. Case at Stonecrest. They need to re-install his thumb crib that we are hoping will cure his thumb sucking.
6. Prayer for my milk to come in.
7. Prayer for finances. We are facing a lot of medical bills and, as I haven’t been able to work much lately.  We are getting concerned how those bills will work out.
8. Prayer for Zach and Julia. Zach is really missing me and upset that he can’t see Natalie. The time I’ll have to be away from them will also be difficult for them.
9. Pray we can get our taxes done so we can turn in our financial aid info to the School.

(David) Also I would like to add that the Elders from Christ Covenant came over to us today and prayed for us. Gabe prayed and read Psalm 46 to us.  Amy talked about what Natalie’s name means to her. Natalie literally means ‘born on Christmas day,’ but she has taken her name to mean ‘a gift from God.’ So Natalie grace is “God’s gift of grace.”

God is our refuge and strength,
    a very present [2] help in trouble.
Therefore we will not fear though the earth gives way,
    though the mountains be moved into the heart of the sea,
though its waters roar and foam,
    though the mountains tremble at its swelling.
        - Psalm 46: 1-3