More memory lane - The diagnosis - March '07 - 6 months

Well, after an amazingly full week of doctor's appointments and phone calls, we have a better understanding of what is going on with Abby Joy!!  :) That in itself is a praise.

Before diving into the details, let me say that this week has been a struggle for me. Doctor's appointments take their toll on everyone in the family - from childcare for her brothers to things that don't get done around the house - it's difficult to have a schedule so full of places we must be. I'm thankful for a couple weeks ahead with no more appointments.

The second, and more pressing, part of my struggle, has been the gradual realization of the long list of things going on with Abby. There is much to be thankful for, and yet there is much to follow up on. The peace of God, which has been such a huge gift over the last two months since the questions first surfaced, has given way to fear and down-heartedness a number of times in the last few days. I think largely because the schedule was so full of appointments that I didn't take time to read the Bible, pray and write in my journal.  By Friday night I was a basket case!!

As you remember our family in your prayers - and thank you so much for doing that!!! - please pray that I would get up early enough ( at least 30 minutes before the boys) and take some time with God. It is the only thing keeping me sane in this amazingly full stage of life.

So, on to details - as I said earlier in the week, they ruled out any mental retardation - for which we are much relieved. I should say "I" am relieved, I don't think Jeff ever let that fear get under his skin!! Abby's prospects of an intelligent future are as good as any in her genetic pool!  :)

What we did find out is that she has something called VACTERL association. It's not a syndrome, nor is it chromosomal - it just tells us that all of her birth defects are not random. They see these combinations of symptoms in 1 in 10,000 babies - so we've got ourselves a rare (and precious)  one!!  :) Briefly - each letter of the term, VACTERL, represents a different defect in different parts of the body - vertebrae, anus, cardiac, trachea, esophagus, renal (kidneys) and limb (extra or missing). When a child has defects involving 2 or more of these, they are classified in this "association". It's not a diagnosis, really, nor a prognosis - just a tool in recognizing what is going on.  

Abby has defects in four of the 7 areas - 

Vertibrae - we learned through an x-ray this week that her next pulls to the left (if you've never seen her, her head looks like it's still a floppy infant head, but she is very strong and her muscles are well developed in that posture!) because of a "hemivertibra" between C6 and C7. According to my limited knowledge, that's a vertebrae somewhere in her neck where only half the bone is developed. We're not sure what that means yet, but we hope to talk to the specialist in Portland in the early part of next week. We know it will involve physical therapy with a pediatric PT in Portland, at the least.

Cardiac - They heard a very loud heart murmur this week, which will need to be evaluated by a cardiologist. She is scheduled to go back up to Portland on Thursday, to get an echocardiogram.  

Kidneys - most of you already know that Abby has reflux in her urinary system which makes her susceptible to infection. We have her on daily antibiotics until she grows up a bit and the condition resolves on it's own. Probably when she is 4 or 5. The danger in infection, as you may know, is long-term kidney damage.

Limb - Abby has a very rare extra toe on her right foot. An extra toe is not rare, but her's is on the inside of the foot, and looks much like a little thumb. (or a little monkey toe!) It has a bone and appears to be jointed. We have been advised to wait until about 18 months to pursue anything with that, because it will take that long for the bones in her foot to be fully developed.

So, that's the run down. And I know these things to be true:  God is good, all the time. He has His eyes on our family and our best interest deep in his heart. He is all powerful. He was not absent for a moment of Abby's formation. He knows. I don't know. I don't see. I don't get it. But he does, and He has our eternal good as His Highest Good. So we'll keep seeking Him and following Him and depending on Him. That's really all there is to do.

With love and appreciation for your involvement in our lives - Jennifer :)