10 days

Motility testing in 10 days. I have been counting down the months, weeks, and now days since September. I am hoping and praying we will get some answers from his motility testing. This poor boy needs some sort of relief. He needs relief from the constant pain of chronic constipation, the pain and nausea, relief from monthly (or more) tube changes because reverse motility keeps coiling his j tube. Most of this evening was spent cuddled on the couch trying to find some relief from the pain and retching. Hoping tomorrow is a better day.

Genetics

Saw genetics this morning, didn't really learn anything new. We are still looking at mitochondrial disease as a possibility. The last round of testing we had done came back inconclusive, so we are now moving on to mtdna testing. It will take 3-5 months to get those results back. She also ordered a few other labs that we will have drawn at his peds office, as well as referral for an MRI.

In 1 1/2 weeks we will be heading down to Milwaukee for motility testing. Praying for some answers there. We will follow up with GI at the end of February to discuss what we see with the motility testing.

In other news Deklin can now say Popsicle! For anyone that doesn't know him on a day to day basis,  we have been working on this forever. Popsicles are one of the few foods Deklin is allowed to eat, so he has one almost daily, which means lots of chances to practice saying it correctly. Yay Deklin.

Undiagnosed

Undiagnosed sucks! I never in a million years thought I would ever hope to have a doctor walk into a room a say ma'am your child has (insert diseases/syndrome/chromosome anomaly here). 4 years ago when we realized that Deklin had something more going on than just your average baby sickness we started down the long, scary, frustrating road of genetic testing. The first test we did was for cystic fibrosis, his docs were sure that was what was plaguing my little man. They were so sure in fact that he has now been tested 4 times for CF (because one negative test isn't enough)... he doesn't have CF. I remember waiting for the test results to come back and just hoping and praying it would come back negative, and being so relieved when it did. At some point over the last 4 years that thinking started to shift I started going back and forth between wanting this test or that test to be negative, but at the same time hoping it would come back positive. Feeling both relieved and discouraged when it came back negative. It's not that I want my baby to have some terrible disease, it's the fact that there is obviously something wrong with him and I want to know what it is. It is so frustrating to be told over and over again "there is something wrong with him. We just don't know what, or how to treat it". I am so tired of  test after test coming back negative or inconclusive. Having  some test or lab come back with something off, but no one knows what it means. 

Deklin sees genetics again tomorrow...I am both looking forward to the appointment, and dreading it. I want to know what it is we are fighting. I am under no delusion that once we know what we are dealing with there will be some magic pill that will cure him instantly. I just want to know what his prognosis is, I want to know what we are dealing with so that maybe we can better manage him, I want to know every time he regresses or we add a new med or medical device if it will be our new normal or if it is just a temporary set back. I JUST WANT TO KNOW.

For those of you that got through my long rant stay tuned tomorrow for an actual update. 

Deklin

A little bit about Deklin...Deklin was born a happy healthy (we thought) little boy. The one thing we did notice from day one hour one was the the reflux. He spit up all day every day as a baby, but he was a "happy spitter" so the doctors said no need to worry, he would grow out of it. As an infant he was sick a lot with various respiratory illnesses, some requiring hospitalizations and oxygen support. Deklin is still currently Undiagnosed, but we are working with a wonderful team of doctors and hope to one day have a full diagnosis for him.  Although we don't have that "all encompassing  diagnosis for Deklin we do have plenty of individual diagnosis for him. As of now he has been diagnosed with reactive airway disease (later asthma), Dysphagia, severe GERD, food allergies, Autism, sensory prcessing disorder, ADHD, developmental delay, speech delay, chronic constipation, sleep apnea, hypotonia, thracheomalacia, Gastoperisis, Motility disorder, pseudo obstructions, and visceral hyperalgesia.   (I'm probably forgetting something). Deklin has been hospitalized many time for Aspiration pneumonia, GI related issues, and various other things. He has had countless other surgeries and procedures, but powers through it all like a champ. Deklin is currently has a G/J tube and is 100% J-tube fed with the G-tube draining/ venting continuously and uses supplemental oxygen. He has a closet full of meds and supplies,  and a wonderful team of doctors working very hard to keep him happy and healthy.