We made it over to Nate's appointment yesterday and while we didn't get many answers, we at least have a direction to go in right now. It is a little disconcerting when a doctor keeps saying, "This little boy is complicated... there isn't anything easy about this little boy... this is a complicated case." It seems we have many issues. It may be more gastric, but we are also needing to do more testing to either rule out, or rule that it is cystic fibrosis. The thought scares me, but not like it used to. Early on the thought terrified me, but as we have struggled trying to get answers, not knowing is worse than knowing would. The problem with this is that it will involve genetic testing for Thayne and me. We have to follow up with our insurance and find out if they will pay for cystic fibrosis gene mutation analysis. The problem with Nathaniel is that he has two known genes, that usually occur on the same DNA in many families. That alone wouldn't mean he has CF, but he also has an unknown gene. One that has never before been discovered! Leave it to our little man to come up with a new one! So in order to know if he does or doesn't have it, both Thayne and I need the test. He also ordered blood work to check his immune system and make sure it is working the way it is supposed to. The blood test was quite traumatic. I know how horrible it is to get blood from little man and I was glad Thayne was there to deal with it. He cried and fought for over 20 minutes. His veins don't like to give up blood... maybe it's because the one nurse kept taking two much blood and left him seriously anemic... or something! ;) I had to walk the halls instead of scooping him up and running away from those bad people! ;)In order to help/prevent wheezing we will be doing inhaled steroids. Albuterol and Flovent for now, in addition to Singulair granules. If this helps open things up and the wheezing and rattling sounds are improved, then we will just continue treating his reflux the way we are. If it doesn't improve, then we will have to follow up with the GI doctors. He didn't rule out tracheomalacia, he just wants to follow through with this game plan right now and see what the results of the blood test show. Not sure that we have any more answers than we did going in, but we have more questions and more worrying until we can find out about cystic fibrosis!
So after he suffered from the blood work, we headed over to The Gateway and shopped and went to Applebees for lunch and he loved the Spinach/Artichoke dip and mashed potatoes and he had a blast watching people walk by as he rode in the 'taxi' stroller! He's our tough guy and we are going to do everything we can to get him better!
5 comments:
Have they alredy done the sweat test for CF? When my little guy was really sick, and we wanted to rule it out, it was a simple patcho on the skin to gather enzymes from sweat. I didn't know there was genetic testing involved? Maybe have them do the sweat test just to give you some info while you are waiting to sort out the genetic testing.
Hugs!
The sweat test was negative which may or may not be a good sign... the blood work/DNA testing is what showed the genes that cause CF. It's so frustrating not knowing.
Kim
Kim, not sure if your remember our (ds5) story. Short version he was practically 'diaganosed' with CF as an infant, treated with breathing treatments and enzyemes until he was 9 mo. Sweat tests at 2, 6 & 9 m were both neg. Genetic testing at 1m and 3 m came back neg for the mutations they tested for (2 different labs). At 9m they took him off the enzyemes and did a Fecal Fat test (to see if he was absorbing the fat in his food, which most, maybe all, CF kids have trouble with, which causes FTT). This test came back normal and they released his diagnosis. We still to this day do not know what caused his problems - he is a normal average size 5yo.
Didn't know if any of this info would help or not. How are Nathaniels stools? I know they say CF kids have loose/mucusy stools from not digesting the fat.
(ok, so maybe that wasn't short)
I was going to ask about his bowel movements as well. Have they done a fecal elastase tests like Elsie mentioned? Maddie and Braden have had several of these. It might help while you are waiting for other answers.
CF is genetic... So it's probably a really good sign that you had 14 totally healthy kids before Nate.
Hopefully he just has several issues at once... Reactive Airway Disease and severe reflux at the same time... or something. That would be better and easier than CF or SDS (has SDS been mentioned? it's really rare, but something that was considered for our kids) or something.
I know this is a difficult road. We have traveled it with our kids. Well, with Maddie and Braden anyway. It can be so hard. Please feel free to talk to me if you need to! I have btdt... lots of testing, no answers, scary possibilities, almost losing precious little ones, etc. We've seen it all too.
In our case, our doctors are leaning towards Constitutional Growth Delay as a cause. I hope you get answers that are just as easy.
(((HUGS!)))
Melissa :)
Kim, I am goobs*mom from BBC, I hope you don't mind me commenting. My son had severe tracheomalacia as an infant and he grew out of it beautifully, and hardly ever gets sick now as a kindergartener.
It seems that if you and your husband were CF carriers you would have had a CF baby already- generally 25% of children of 2 carriers have CF, so it would have probably already shown up in your big fam! Congrats on your pregnancy!
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