Well - it's been a long day. We spent 3 hours at CHKD this afternoon speaking with several doctors, specialists and counselors about Anna. We left feeling a little overwhelmed, but on the right track. At this point, the geneticist strongly believes Anna has VELO CARDIO FACIAL SYNDROME, a chromosomal disorder dealing with the 22nd chromosome. Bloodwork is likely to confirm this diagnosis within the next week. What does it mean now that we know this? Anna has a long, uncertain road ahead of her. This syndrome can manifest itself in so many different ways that we won't know exactly the difficulties she will face. She is being referred to a urologist to check her kidneys, since kidney function can be affected, she is being referred to an immunologist, since her immune system can be affected, she is being referred to an endocronologist, since her calcium levels can be affected. There are so many "ifs" or possibilities that it is just best to have her looked at by everyone to rule out the major issues that could present themselves. From the research we've done, VCFS patients can live a highly functional, "normal" life, we just may have a few bumps in the road, but the cardiac and palate issues are the most major, so at least we are getting them out of the way!!!
On to the palate issue - Anna has a submucous cleft palate. The surgery was explained to us and appears to be fairly simple. The discussion that is on the table is the appropriate time to perform the surgery. The Speech Pathologist feels Anna has a severe speech delay due to another underlying cause (probably VCFS) not just the palate issue. She, the ENT and the surgeon must now decide whether to do the surgery immediately or allow Anna to be in more aggressive Speech Therapy 2 times a week and do the surgery after she shows improvement. They will discuss the options over the next few days and let us know the best course of action for Anna.
I know that is probably very overwhelming information and if you ask me, what can we pray for, I'm not even sure what to answer. Pray for the road ahead of us. It just got a lot longer than we anticipated it being. Pray for protection for Anna with the upcoming cold/flu season as she is so susceptible to "bugs." Please pray for me to be strong and to have faith that God's timing will be perfect and that I can take it one day at a time. I will not lie and tell you I'm doing "okay" with all of this. I feel very overwhelmed, mostly due to the fact that I have another baby on the way. I feel like the next 4 months with Anna are crucial and I would like some "normalcy" to be in place when the baby arrives. But I can't control any of that, I can't make it all go away, I just want to have faith in the Lord's timing and will. I keep telling myself that He knows we can handle this, that's why He's chosen us.
Thank you for being a support for our family and for loving Anna so much. I know she can't tell everyone how loved she feels, but one day we'll tell her how loved and lifted up she was!
As always, I'll keep you posted!
Trustin in HIm,
Ready or Not!
5 years ago