Tonight I am laying next to Rose Nacheca as she falls asleep in her bed. Two weeks ago though I stood beside her bed as she had IV's, tubes, and machines attached to her. She was on a ventilator and heavily sedated. WOW what a difference 14 days can make :)
She improves every single day! Her medications were cut in half last Thursday so she only has to take medications a couple of times a day and no more waking up in the middle of the night for medication. Mom and Dad sure like this HAHA! Her pain is much much better now. She still is very uncomfortable in the morning until she has had some Motrin. Laying her down for a diaper change makes her wince. Getting in and out of her carseat are not her favorite things either. But as you can see in the picture on the left (which was taken today) she is back to her happy smiling self once again :)
Another peice of exciting news is that the geneticist called this afternoon to let us know that she did test positive for Noonan's Syndrome. She has a gene mutation of her PTPN11 gene. Now for those of you who know me well you know that every spare second I have had this evening (with 4 kids and a husband who is out of town there has not been many) I have been researching this mutation. Over all I am very comfortable with what I have read and the little I got from the doctor this afternoon on the phone. The biggest issue for Noonan's kids is congenital heart disease. This has now been corrected in Rose Nacheca so that is good. EVERY single thing that we have found to be wrong with her can be caused by Noonan's! Her heart defect, her short stature, hearing loss, all of it is a symptom of Noonan's. Now I know I sound way too excited upon discovering that she has a chronic medical condition but let me tell you why this seems like such a relief. Before we were feeling so overwhelmed because every time we went looking for something that could be wrong, most of the time we found something wrong. As the list of things started piling up it got to be very overwhelming and stressful thinking about what else we were going to find, what was the future going to look like for her. But now we have 1 diagnosis. Something we can look at and know what we can expect for her future. There can always be surprises along the way but from what I have been reading the most critical thing she will have to deal with was fixed two weeks ago today! Most Noonan's children have normal intelligence and live normal lives. Spending even a small amount of time with her you can know that she is a very smart little lady. She goes back to see the geneticist on Monday April 18th. At this time we will go over in more detail what to expect and she will answer any questions that we have.
We have come so far in 14 days!!! I am so thankful for everyone who has been praying for her. She is doing fantastic. Her skin tone has a nice pink glow to it. Her palms of her hands are pink :)
Good night!
Wow, You don't know me at all but I was at OLTCH a couple months ago and heard about your story. My son also had heart surgery and caths at Mpls Children's. So many caths I can't count and 2 surgeries, one open heart and the other on the aorta on the outside of his heart. I read this and it brought back so many memories. The ventilator, the chest tubes and the riding toys and my fear of him flying down the halls and hurting his front incision that was so new. This was 21 years ago and David is doing fine. He has had repeat caths and a stent insertion in the cath lab thru the years but we have so much trust in the Docs at Children's Heart. He still goes there to a Dr that treats adults with congenital heart defects. Mpls Children's is amazing and we know what a blessing it is to have had such wonderful care..both for David and us! Blessings to you!
ReplyDeleteJackie Passer (signed in as Rob)