The Beginning

 

You can also Visit www.peytonwilliams.org to keep up on her DBA treatment journal.

Well lets start from day one of Peyton’s journey, May 3, 2013.picu

Mommy had taken the day off work to spend the day with me and take Daddy to the hospital for a routine procedure.  It was going to be a great day filled with family fun.  Our day started out just like any other day had for the first four months of my life.  We arrived at the hospital, Daddy kissed my forehead and he was off to get his checkup.  Mommy and I were playing in the waiting room when I started to not feel so well.  Then out of nowhere up came all of my breakfast and this was Day 3 of revisiting my meals.  Yuck!  Mommy took me out to the car to get me cleaned up for Daddy and that’s when she realized something just wasn’t ok with me.

After fighting with the pediatrician receptionist Mommy finally got me an appointment and we went back upstairs to wait for Daddy.  We greeted Daddy in recovery with the news that we would be heading over to my doctors office.
Once we arrived the doctor asked Mommy what her concerns were and why she had brought me in.  Mommy told her about my food not wanting to stay down, my lethargic behavior, and that she just knew something wasn’t right.  So they proceeded with the normal routine which included checking my weight.  Now you must know I’ve been on the smaller side since birth.  However, this time my weight had taken a plummet causing me to drop off of the growth chart.  Dr. W decided the best thing to do would be to run a test in her office to check my blood.

So after a poke and a band aid we were off on another adventure.  That test Dr. W did to check my blood showed that my hemoglobin was only a 1.6!  Quickly a nurse escorted us through the back halls of the hospital to the ER.  When we got to the room there were about ten new nurses and doctors waiting for us.  They quickly began asking Mommy and Daddy questions while others were checking me out.  I could tell that Mommy and Daddy were trying really hard and did a great job to keep it together, even though they were quite scared.  Once they finished checking me out they told Mommy and Daddy that they were going to call the Panda Unit to come and get us.  This is a special ambulance with specially trained staff from Children’s Hospital that is used just for special kiddos like me.  Once the team arrived to pick me up they worked to put in an IV.  Ouch!  With my already very tiny veins running super low on blood, even with my extremely translucent skin, they weren’t able to start the IV.  They decided that they had poked me enough and I was stable enough to transport to the hospital where they would try again.

So we were off on another adventure.  Mommy and I rode in the Panda Unit downtown to Children’s.  Once we arrived they took us straight to the ICU were more nurses and doctors waited for us.  They checked me out and again began the task of starting an IV; I really needed that blood.  After several exhausting hours of trying to poke one of my little veins they made Mommy and Daddy go out in the waiting room.  They gave me a special medicine that made me feel sleepy and relaxed.  Then they were able to draw a little blood and start my IV.  Soon after this we were off on yet another adventure – we had to switch to a private room in the ICU.

They thought that I had something called PARVO.  No, not the kind that the dogs get but a virus that humans can get.  I had to switch rooms because my first nurse had a baby in her belly and we didn’t want her to get sick.  PARVO can be transmitted through droplets like my tears and drool.  Mommy, Daddy and the doctors and nurses all had to wear these funny masks to be with me.  The treatment for PARVO is blood transfusions, so that’s what we did.  They wanted to fill me up quickly so they hooked up my blood and pushed it over one hour.  After that bag was complete they pushed another bag over four hours.  Once this bag was done the doctors decided that I was doing better and I got to leave the ICU.  So, really early the next morning Mommy, Daddy and I were off on yet another adventure.  We settled into our room on the 6th floor were we would spend the next five days.  Over those five days I would continue to receive transfusions with hemoglobin checks between to monitor my levels.  On the fourth day there they did a bone marrow aspiration and the results showed I had pure red blood aplasia.  This means that I had little to no red blood cells in my marrow, cause the anemia.  Again the treatment for this would be the same, more transfusions.  The sixth day was my freedom day.  The doctors finally decided that I could head home.  I was so elated to sleep in my own crib and not have my leg squeezed by the blood pressure cuff all day long.  We still were set on me having PARVO although they were waiting for Mommy’s blood results to return.

So they sent us home with instructions to return to the hospital next week to check my levels.  At this first follow up appointment they told us that Mommy’s blood and my lack of response to the transfusions told them that it was not PARVO.  They now thought that it could be TEC which is a temporary blood disorder that would be corrected with more transfusions and time.  Well, time passed and I still wasn’t getting any better.  I was needing to get a transfusion about every two to four weeks.  So with that they decided to look at DBA, Diamond Blackfan Anemia.

DBA is a rare blood disorder, characterized by a failure of the bone marrow (the center of the bone where blood cells are made) to produce red blood cells. This failure causes DBA patients, like me, to become severely anemic.  According to the doctors DBA effects approximately five in a million  or .0005% of infants world wide.

After a long fight with the insurance company we were finally able to have genetic testing done to test for three of the most common gene mutations that cause DBA.  Six weeks later we received the results from the first of three tests.  Negative!  We continued with our weekly visits, more transfusions and waiting for the remaining two test results.  Now four months after my initial visit to Dr. W we’ve finally got the results for the last two tests.   Negative, again!  Although this is very common for the results to come back negative it was still disheartening for Mommy and Daddy.  Disheartening not because they want something to be wrong with me but because they once again were left without a straight answer.  Now let me just make sure you understand.  Just because all my results came back negative that doesn’t mean I don’t have DBA.  They still are diagnosing me with DBA because in about 50% of DBA cases the genetic mutation is never identified.

This takes us up to the point of starting this website.  Mommy and Daddy now have many decisions to make and paths to choose.  I’m going in soon to have another bone marrow aspiration done to check for any changes over the last four months.  Then we will make our next steps in this adventure.  Please continue to check back for updates from Mommy and Daddy about my journey with DBA.

- Peyton “PJ” Williams