New diagnosis....

In regards to my post a few weeks ago about Reese’s seizures, we have some further updates...

On Monday the 3rd, I was in contact with the Down syndrome clinic in KC, as we had an appointment on Wednesday. I wanted to see their neurologist for a second opinion, or to even review her previous EEG’s. The scheduler there recommended me to contact the Neurology office at Children’s Mercy and see if I could talk to a nurse. So, I did. When I talked to the nurse and gave her my concerns of Reese, explaining that she has started to regress in her fine motor skills, and her seizures were happening more in clusters, she recommended me to come into the ER and just be admitted instead of waiting for a new patient appointment (which could be 2+ months). I said, “ok, after our appointment on Wednesday (that we have been anxiously waiting for) we would come into the ER, and me admitted for further testing.” She replied, “no, I mean like today… or now.” Que panic attack.

Taylor and I arrive to KC about 8:45 Monday night. The nurse I had spoken to that morning already started a file for Reese and noted a brief description of what I had told her. We were admitted in no time flat. The on call doctor came in that night and I told her every little piece of information about Reese, from her C-PAP when she was born, to the barium enema done a month ago, all the way to every detail of her seizure activity. I had her medical records from her birth, NICU stay, recent hospital visit, both EEG’s and her MRI. I wasn’t about to let this case slip though anyone’s fingers.

The next morning at 7 am Reese started her EEG. This went on for over 8 HOURS! (Her previous EEG’s were 20 & 30 minutes) At about 11 am the Neurologist and her team of what seemed like 27 people crowded into the room. Que panic attack. Reese has infantile spasms with modified hypsarrythmia. I’m not going to say I knew it all along, BUT I KNEW IT ALL ALONG. My gut instinct never told me that I was confident she didn’t have it, even though I was told otherwise. She was showing every single sign and symptom. The treatment for infantile spasm is very aggressive. As of now, Reese will be getting ACTH injections twice a day for two weeks, and then we will wean down from there. Since this steroid injection is so aggressive we had to cover all our bases first. On Tuesday Reese was overwhelmed with tests. She had metabolic studies (blood and urine), another echocardiogram to measure the muscle around her heart as the steroid can cause that to thicken, and also to make sure her heart is healthy enough since she still currently has the ASD and PFO.  Reese also had a chest x-ray to make sure there was no infection in her lungs as the steroid will weaken her immune system, and can cause an infection to get dangerously worse. The worst test of them all was a lumbar puncture. Most likely the infantile spasms are because she has Down syndrome; however the neurologist didn’t want to assume anything. Can I tell you how thankful I am that they want to cover everything before we start this aggressive steroid!?

Yesterday was hard, but every day is a new day. Today we will wait to see how all of her tests went then we will hopefully start the steroid injections. As much as I didn’t want Reese to have infantile spasms, I’m so thankful that we got a diagnosis before it got worse, and before she started to regress on her gross motor skills. I’m ready to kick these seizures to the curb, and to get my spunky baby back! The next month will be tough as the steroid does have quite a few side effects. If you all could please keep us in your prayers, we would greatly appreciate it.

                        

Love to all.