Finally feeling better and thought I would get the latest Dr.’s visit out to Haddie Joy’s listening family 🙂
We met with the geneticist Wednesday the 29th at Vanderbilt Children’s Hospital. She was super sweet and very thorough, answering very patiently all of our questions. After examining Haddie Joy, she told us she thought she might have an idea what is going on. Haddie has several physical features which the doctors have pointed out here and there. She has what appears might be a webbed, short neck, extra folds of skin around her eyes, posteriorly rotated ears, upward slanted eyes, a turned up nose, and short arms and legs. Oh yes, and beautiful blue eyes 🙂 She also has had some unexplained bruising. Apparently these are all or all could be characteristics of something called Noonan’s Syndrome.
Noonan’s is often referred to as the male Turner’s syndrome, although the gene mutations are not the same. They drew Haddie’s blood again (this is always a bit traumatic for mamma!) and sent it off to determine if the mutations (if any) in Haddie’s blood line up with Noonans. The immediate concern for action in a case such as this would be careful monitoring of heart and kidney problems…which Haddie Joy doesn’t have. The long term concerns have more to do with typically mild cognitive deficits although sometimes there could be severe mental retardation as well as keeping a close eye other issues that may or may not arise.
There are also several closely related gene mutation patterns which cause some or all of these symptoms. If the Noonan’s screen comes back negative, we will then look for some of the others. If I understood the doctor right, she could actually have Noonan’s even if the results of the blood test are negative. I guess they have identified most of the gene mutations, but not all of them, although they are now up to 95% accurate. I think I got that right.
The doctor felt pretty strongly that Haddie Joy has Noonan’s and that she was probably just higher risk for learning disabilities. We thought that was good news.
The geneticist also set Haddie Joy up to do a swallow test. This is after we spoke at length about the tracheamalacia. This will determine if she will need to be fed differently with thickened feedings so that her food doesn’t get in her airways. We will go do that Thursday in Nashville.
We left the clinic and went over to Dr. Collins office to visit. It was so fun parading Haddie all around to meet everyone.
Haddie Joy was able to meet Annie, our Hospice chaplain.
I was so glad for her to be able to hold her. I know most of the time she is comforting those who have experienced loss. How refreshing to be able to hold a little one she was supposed to be helping us grieve.
Then of course, Ericka, our favorite bilingual nurse ;-), made a huge fuss over Haddie, or as she called her, “Little Cranberry.” Ha!
After all of the months Dr. Collins cared for me, I just couldn’t let it end without seeing him one more time and letting him meet Haddie Joy.
It was quite a day! A joyful day, but hard too. Looking around at those waiting to be seen at the genetics clinic was pretty tough. So many families are going through so many challenges each and everyday. I think Annie said it best when she described the clinic as a place where “a lot of grace happens”. So true. It certainly takes a special set of people to minister to those seen there daily.
We are still so overwhelmed and excited that Haddie Joy is actually here. We still just stare at her. It is still so amazing. I’m not sure I’ll ever get over what God has done. My heart often is just so full of gratitude I feel I could burst.
But then, I’m human too.
And I still have lots of other feelings on a daily basis.
I must be completely honest and say it’s been a really hard 8 weeks. Mainly because I have been sick and I’m just tired of being sick. Joy isn’t something I’m very great at when I’m sick, I’ll have to admit. It’s always harder to fight the good fight when I just plain feel yucky and exhausted. That along with the fact that physically, I just haven’t bounced back completely and I wasn’t expecting that since I am a pretty physical kind of gal. I’ve thought all of my symptoms are unrelated and part of a stomach bug here, the cold/flu there – but I’m starting to wonder if something else is going on. I’ll feel great and think I’m getting over whatever I’ve had, then a day or so later it seems to start again. I know everyone has said I will feel a little better everyday….but it’s been 8 weeks now, and it’s just not happening. I’ve tried to just buck up and push through, but that doesn’t last long either.
I’ve felt guilty that I can’t lick whatever is going on…in light of this great miracle and all. But truth is, I just can’t and I need all your prayers once again.
I can’t wait to get back to church and be out and about.
Thanks and love you all!!