Presley

So I decided to give blogging another try. I know family and friends are worried and curious about how Presley is doing and I think it might be easier to let everyone know updates, etc. through this blog rather than re-telling the same story over and over. So for those that don't know here is what's been going on with my sweet baby girl.

Presley was doing great up until Thanksgiving day when we went to a family dinner and Presley was extremely fussy! Presley has always been a more high maintenance baby but I always had the magic touch and was able to calm her down almost immediately but on Thanksgiving even I couldn't get her settled which worried me. I figured she was just in an unfamiliar setting and would snap out of it the next day well that never happened and over the next two weeks she continued to just scream all the time and my intuition told me something just wasn't right. Around this time Presley also started having odd head movements, from time to time it was like she would lose all muscle tone in her neck and her head would just drop. I took her to the Dr. on 11/30 and told the Doctor my concerns he thought she might just be teething or have gas. I mentioned the head drops and he told me to try to get a video of it. I think I wanted to believe she was just teething but I still knew it was more than that so a few days later we were back at the Doctor. This time the Dr. thought she was constipated but ran a few blood tests anyway since we were so concerned. Those blood tests came back normal so we went home and gave her meds for constipation hoping that would be our answer.

Well it was clear to us a few days later that constipation wasn't the problem. We went back to see her regular pediatrician on 12/7 and finally someone listened to us and didn't just think we were paranoid parents complaining about a fussy/teething baby. I had come prepared with a video to show her of Presley's head drops and she thought they might be seizures. In a way I was relieved to finally have an answer to what was making my baby so miserable, I figured we would get some meds to stop them and be on our way..... I couldn't have been more wrong.

We left that appointment with a referral to get an EEG (a brain test that would show irregular brain waves) the following week. That night Presley had her first "cluster" of seizures, she did around fifteen head drops and Mark and I decided enough was enough and headed to the ER. The doctors examined Presley and ordered a catscan of her brain which came back normal so again we were sent home with no answers. We were able to get Presley in for her EEG the next day since my dad has a friend who was able to pull some strings at Kaiser to get us in early. Our pediatrician called us the next day and told us the EEG had come back normal but the neurologist still wanted to meet with us the following week and that we would probably have to redo the EEG since they may not have gotten a clear test. I had finally had enough at this point, I wasn't waiting another week, I knew something was wrong with my baby and it needed to be figured out way before next week! The Dr. said if it happens again before the appointment go back to the ER, so I told her I could guarantee we would be back in the ER that night since the head drops were increasing every day. Luckily our pediatrician is great and agreed we should be admitted to the hospital, she made a few calls and set up a room for us at Kaiser Oakland since they had a pediatric neurologist there who was the specialist we needed to see. Even as we drove to the hospital I had no idea the severity of what we would soon learn.

The next morning the neurologist came in to examine Presley and quickly noticed three white birthmarks on her belly that she said made her suspicious of a genetic disorder called Tuberous Sclerosis. Thank god just two weeks prior I had finally broken down and decided to buy a new fancy phone with internet so I immediately googled Tuberous Sclerosis (TS) and in about ten minutes before the EEG technician came in to perform the next EEG I tried to read as much as I could about TS. It is a rare genetic disorder that causes benign tumors to grow in the brain,heart,kidneys, and eyes. Some people are very mildly affected and go on to live normal lives while at the the other end of the spectrum people can have severe mental retardation and all kinds of other issues. It wasn't a firm diagnosis yet, it was just a suspicion so I tried not to freak out just yet, but later that afternoon the genetics team came to talk with us and it's a conversation I will never forget.

I don't remember the exact conversation but these were some of the more memorable tidbits.... "Yes we're diagnosing her with TS". " Because seizures began before one year of age she has an 80-95% chance of mild to severe mental retardation". " We won't know how severe until 3 years of age". " She will need continuous testing throughout her life to monitor the growth of tubers on her organs". "Try not to worry about her future". "you two will be much more likely to divorce because of this diagnosis so be careful". " If you had to choose between your child being smart or happy you would probably choose happy". "This will be harder on you because you know what her life could have been, she doesn't know the difference".

I can't even begin to describe my feelings after that, This man had just turned my world upside down. I was in shock, I was terrified, I was angry, I worried about her future, I worried about Peyton and how this would affect him, I wondered if we were strong enough to handle having a special needs child, I felt like I was mourning the loss of the little girl I expected to have. Mark and I took turns crying and giving ourselves "we can handle this", "we were meant to be her parents no matter what" pep talks and just tried to let it sink in.

We were discharged the next morning. We left the hospital still in shock, knowing our lives would never be the same, but also knowing we still had a beautiful baby girl who needed us and our only plan for the moment was to continue to love her like crazy. The rest would have to figure itself out.