Results

Well, 3 months, 6 blood draws, and a lot of anxiety has passed and we finally have the results of Emmersyn's MCADD. I got the call yesterday and it wasn't the news I was deep down expecting, or definitely not hoping for. She does have MCADD, however, it is the variant form, which means that she has the two genetic changes (to classify the MCADD), however her levels are lower so it's not classical MCADD (which is good, the hope is it's not as serious).

We will be receiving a 'Emergency Protocol Letter' in the mail with in a couple of days outlining what Emergency Rooms or Dr's should do in the case of Emmersyn falling ill, as well as Dr. Hoganson, her Ped. Genetic dr.'s contact information so he can be alerted immediately. This letter will let us bypass all ER procedures and get her right into a room with an IV of dextrose (basically sugar water). The geneticist let me know that we will not be abusing the ER if we ever think that she is acting funny or is sick, the point to to avoid a bad outcome. We will be making copies for my purse, Adam's wallet, diaper bag, and anyone who ever keeps her! We have been told to preferably bring her to The Children's Hospital but having this letter is to our advantage regardless where we are.

As of right now:: nothing really changes, her levels are not high enough to need daily treatment. I talked with her dietrician yesterday and I have decided to try Good Start with Isomil, mixing at first, seeing how that goes, and possibly switching all the way over. She never spit up Similac, milk based, which is ironic (because she has galactasemia - but again, it's a varient form there too, so she very well may never be effected.) but she spits up sometimes quite a bit, which can be a concern if she's not getting enough nutrients. She is also starting to sleep thru the night in which I am getting clearance for this as I don't want her to go too long with out feeding. We now know what to do if a situation arises. Don't get me wrong, I am ENTIRELY terrified...it's already hard to judge when to bring your child to the dr. when they are sick, this brings it to a whole new level! We are just going to play it safe in all situations. MCAD Deficiency is treatable if you know it is there. And she won't get sick more because of MCADD, she has a normal immune system. Having the variant forms of both disorders is a blessing in it's own, they may never even truly affect her.

What the future holds:: In December Emmersyn will get the flu shot, we pray that she doesn't get exposed or come down with the flu before that happens - (so if you're sick and we're supposed to see you tell us to stay away) :) We still will not meet Dr. Hoganson until January if everything is going okay. We will stick with normal baby milestones, starting with cereal next month, veggies and fruits etc. We already have to be careful and slowly introduce milk products starting at 9 months. It may pose a challenge with her having both MCADD and Galactasemia, but it may not, I talk with the dietrician and dr's often.

The news was hard to take at first and this post is very dry with a lot of information. However I don't want that to overshadow how very lucky we are, I feel having that simple test saved her life. I am so thankful that Illinois is a state that this test is mandatory, as not all states require it. It's almost a breath of fresh air, now we know, and we can move forward! I was really trying not to cry as I was getting the information, of course you don't want anything wrong with your child. As I sit here, it is hitting me more and more how positive her future is with the knowledge we have and the great doctors working on her side. Thank you so much to everyone who has been supportive, checking on, and praying for Emmersyn!

{If you go to the bottom of this post it is labeled Emmersyn MCADD and Galactasemia. If you are wanting to go back and follow our little journey this will pull up all posts regarding MCADD and Galactasemia.
::AND on a side note, it's been very stressful so some posts are very ...ranting :) tehe!::}


Here a couple of great sites of good information about MCADD
Illinois Department of Public Health
FOD