Phoebe was scheduled to throw out a first pitch at one of Jack's Kids 26th Annual Jack Gardner Memorial Tournament Games again this year. Unfortunately she had a very rough night last night. She was experiencing a lot of swelling, pain and difficulty catching her breath (heat related flare up) and by the time she was comfortable, stable and asleep it was 5 am in the morning. Our hope of being at the field at 7:30 am for the first pitch was not going to be a reality.

Participating in this event has become of Phoebe's favorite activities and she looks forward to it every year. She even counts down the days until she can throw out a first pitch. But we knew everyone involved in Jack's Kids, including the teams playing, would understand why we were unable to make it to the field. 

Thankfully we were able to make it to the lodge just before 1 pm to enjoy the rest of the days activities, which were equally inspiring, humbling and full of joy! To witness the time, dedication and love every one of Jack's Kids committee members puts into all the Jack's Kids families is inspiring. It is a true blessing that Phoebe, our family, is a Jack's Kids family.

Getting  brand new fishing poles and mommy getting her fishing license for the year can only mean one thing! Early morning fishing before the heat kicks in and we have to stay in doors!

Phoebe's one goal this summer.....learn how to swim.

When we went to Florida in April, Phoebe was still using her puddle jumper (which is the best thing we have bought for the girls to use in the pool....ever) to swim. The pool at the house we rent in Florida is different from our own personal pool at home. At home we have an above ground pool that is 4 feet deep all around. In Florida, the rental has an in-ground pool that goes from a shallow end of 3 feet deep to a deep end of 5 feet deep.

Swimming is an activity we always encourage with Phoebe, especially with the puddle jumper, because it is a good way for her to build up some muscle strength. And with her having weak muscles throughout her body (including her lungs tiring quickly), the puddle jumper has allowed her an extra safety feature when she is in the pool with us. But this summer when we opened our pool Phoebe announced proudly that this was going to be the year she learned to swim without her puddle jumper.

A mix of emotions always comes over us when Phoebe pushes herself to achieve certain goals. They are usually always goals we want to see her achieve, but there is also the nerves and worry that come with her body's inability to keep up with her mind, spirit and determination. But this was something Phoebe was determined to do, so we were going to do our best to see that she met this goal.

It was our first time in our pool this season when Phoebe proudly stepped off the ladder and into the water without her puddle jumper when she turned around and exclaimed "See mommy, I can touch the floor and my head is above water!" It was then I knew that she has been waiting for this moment, for when she was tall enough to stand in the pool with her head above water to attempt to swim on her own.

An adult is always right by her still, but she is on her way to swimming, as she says "like sissy and Natalie" (what she calls her older sisters)

2013 - The very first time Phoebe saw Minnie Mouse in person! Nothing but pure joy, excitement and the magic of Walt Disney World!

Today was Phoebe's end of 1st grad party. The lack of sleep from my crazy work schedule is worth it to celebrate these moments! Moments we have fought and struggled to ensure she receives. This morning brought on many emotions, for the both of us.

But this party also confirmed concerns I've been expressing throughout the year and ignited a fight I was hoping it wouldn't come to. 

After a Patriotic Sing Along in her classroom, Phoebe's class and all the parents who attended went outside to the back of the school's field to celebrate the end of the year. While the long walk to the far back corner was a challenge and Phoebe's legs did get tired, she fought through. She took her time, kept an eye out for holes/uneven ground, and had me carry her when she needed me to. But the long walk and tired legs were nothing compared to how Phoebe felt once we reached the spot of the party. 

The back of the field at the school sits at the base of a small hill by a baseball field. There is also a large tree that offers a great deal of shade and protect from the sun. Under there were two tables set up, one with bubble wands for each of the kids, and the other with crafts for the kids to make. As Phoebe and I approached the tables her eyes began to sparkle and she was smiling ear to ear. Crafts and bubbles are two of her favorite things to do! But the closer we got, the sparkle began to leave her eyes and the smile faded to a look of sadness. There, in front of the tables, was an obstacle course for kids to run and jump through. Something Phoebe was not going to be able to do. I noticed the sadness on Phoebe's face, bent down to give her a kiss and whispered "That's ok baby, I'm sure your friends will play with you. You will still have a fun time." 

But they didn't. And she didn't. Phoebe would go to where her friends were playing with bubbles and try to play and blow bubbles with them. But what I witness broke my heart in a million pieces. As quickly as Phoebe would join her friends, they would run off in the other direction to play tag, do the obstacle course or just run around the baseball field. Over and over again I watched Phoebe standing alone, sad, fighting back tears. 

Phoebe and I did make a craft together and blow bubbles together, but even though she was happy I was there and doing things with her....she still wanted to play with her friends. It wasn't until the room parents called the whole class to do the obstacle course that Phoebe couldn't fight back the tears anymore and broke down crying. She wanted to go inside. Something I was more than happy to do for her. But going inside only made things worse. 

I was told Phoebe and I could go inside but we would need to wait in the nurses office until the rest of the class came in, in about 15 to 20 more minutes. If sitting outside and watching her friends run off from her wasn't hurtful enough, now she had to sit in a chair knowing exactly what she was missing. It did not take long after walking into the building before Phoebe was begging me to take her home. 

This entire school year Phoebe has not participated in gym or recess. She is not medically cleared. But she has not had to sit outside at recess or in the gym and watch the other kids play. She has not had to see what she was missing, so she never felt like she was missing out. But today that all changed. Today my daughter's heart broke. My heart broke. 

​And now....I fight. 

Phoebe's 1st grade class had a field trip to the Crayola Factory scheduled for today.  Knowing how far the Crayola Factory is from our town and reading that the classes would be taking large school buses to get there, I paused to weight the pros and cons of Phoebe going on this trip. Phoebe does take a school bus to her school, but the school is only a mile from our house and she is on a small school bus that is air conditioned to accommodate her respiratory and temperature regulation issues.

We are constantly fighting for Phoebe to be included in as many things as possible and trying to avoid her feeling like she is being left behind or missing out. And deciding whether or not to send her on this trip was another one of these struggles. Phoebe going alone on this trip, on a large bus with her entire grade was not an option. There were too many risks, and she would be too far away God forbid something were to happen. For Phoebe to go on this trip, to be included in this special event with her class and grade, I would go with her and drive her myself. So I checked the box on the bottom of the first page for parents to who wished to attend the field trip with their child and I hand wrote in that I would be attending for medical reasons and would have all of Phoebe's medications with me. 

On the second page of the permission slip I filled in all the necessary information about her symptoms, limitations and medications hoping that I was providing her school (who already knows everything) with enough information so that these accommodations could be made like they were the year prior. 

Unfortunately, that was not the case. I was informed that I would not be "allowed" to attend the field trip as two other parents were chosen as the class chaperones. I was also told that the school nurse would be going on the bus and be present the entire trip so I could tell her all of the things to watch for with Phoebe and that the nurse would handle them accordingly.

My response....My daughter trips and falls in your school and it goes unnoticed even though she is supposed to have an aide walking with her at all times. My daughter has subtle breathing changes that can progress rapidly if they are not caught early enough, breathing changes that she has come home from school with that have been missed. My daughter is on a specially assigned school bus due her respiratory issues, she does not take a large crowded bus, especially over an hour away. I'm sorry but if I am unable to attend and bring her, she will not be participating in the field trip and I will keep her home from school that day. 

Without pause, I was told they understood and excused her from that day of school. I was disgusted, and Phoebe was crushed. Now it wasn't just Phoebe feeling like her body was holding her back, it was her school being unwilling to make accommodations to allow her to participate because of her body/symptoms. Whoever said our special education department was phenomenal lied! All I knew was I needed to make Phoebe feel extra special on her missed field trip day.

To help make Phoebe feel special for missing her day of school and the field trip she desperately wanted to attend, I took her with me to get our fingernails done. She loved it! From picking out her color to feeling special and pampered, Phoebe couldn't stop smiling. She was loving it so much she even asked to be able to get her toes done as well. How could I say no?! We both knew what she was missing, but at this time in the nail salon she didn't mind! 
​
I wish I could have brought her on her field trip with her class, but today turned out better than either one of us expected. 

A dream is a wish your heart makes.... And for Phoebe, her wish is always to feel like she is just like her sisters. Able to do what they do. Able to keep up with them. Able to experience everything that they do. Able to do everything without restrictions and without her body/symptoms holding her back or stopping her. 

There is one week a year that Phoebe's wish comes true...on our annual family vacation to Disney World. 

To be able to give Phoebe her wish, even if for only a week every year, is priceless. The pure joy on her face, the sparkle in her eyes, the comfort of feeling like everyone else...Disney truly is where dreams come true.

We are nearing the two year mark since our trip to the NIH. Two years since they have seen Phoebe. Two years since they began analyzing her genetic raw data. Two years since they have ordered/suggested any tests. Two years of doctor's visits and emergency room visits while Phoebe's symptoms worsen. Two years of sporadic testing that Phoebe's NJ specialists have ordered while waiting to hear from the NIH.  Two years of waiting to hear from the NIH. Two years of not hearing from the NIH. 

I have repeatedly reached out to the Nurse Researcher assigned to Phoebe's case, hoping to hear even the smallest amount of news. But each email and phone call went unreturned. The frustration and helplessness of feeling like there is nothing you can do for your child is only worsened by not being able to get ahold of the highly specialized research team who is supposed to be helping you help your child. I do know that Phoebe is not the only patient of her lead NIH doctor and I do know that the NIH is very busy. But to not hear anything, at all, for two years....is not right. A point I made in each of my emails.

​I had all but given up hope of ever hearing anything when I received an email from the very first contact I had at the NIH, a Senior Nurse Consultant, requesting a phone call. It had been over two years since I had first spoken to her, but I remembered her well. The same dedication, drive and passion she had expressed in helping Phoebe when we first learned we were accepted into the Undiagnosed Program was still present.

She was disappointed with the lack of communication I had received, especially with knowing how many unanswered emails and phone calls I had made. She recognized that even if the NIH had no new information for me, the Nurse Researcher should have been reaching out to me so they could get any new information I had. Since it had been two years, that would mean I have two years of medical records that the NIH didn't. That those two years contain important information that they need, because even if the doctors and specialists in NJ couldn't make sense of what the results mean, the NIH could use it in the giant puzzle they are constructing.

Her disappointment was also the driving force in her decision that she would be my main contact with the NIH from now on. She also emphasized that if I ever go a couple of weeks without hearing from her, I should email her or call her to get a status update. While I was happy to have a new contact that was driven and dedicated to helping us find answers for Phoebe, I wasn't sure what status update I would be looking for.  Her response renewed my hope in being able to one day find an answer, a diagnosis.

She explained they wanted to enroll Phoebe in a WES research study. WES stands for whole exome sequencing. What this entails is sending Phoebe's, mine and her father's blood off so our entire exomes can be sequenced. (sequencing would take three months to complete) After sequencing is complete, the NIH would receive the results and begin to analyze them. (analysis would take a couple of weeks to a month) The hope is the whole exome sequencing would allow the NIH to identify what genes are the cause of Phoebe's medical issues. 

But there is no guarantee that if they identify genes that are faulty that they will know 1)what they are, 2)how they contribute to Phoebe's medical issues, 3)a definitive diagnosis or 4)how to treat her. 

Because there is a chance the results of the sequencing can leave us, well anyone who participates, with more unknowns than answers the results the NIH receives are assigned an identification number and entered into a global research database along with accompanying symptoms. (only the researcher entering the information in the database would know Phoebe's identifying information). By doing this, researchers around the world would have access to clinical information of everyone in this database. The hope of this database is that if one researcher is unable to identify a disease or possible treatment, another researcher might hold the answers, or at very least some new ideas. 

The NIH sends out blood for WES once a month in a batch. Phoebe's and my blood is still at the NIH so as soon as the paperwork for the research study is signed they hope to get our samples sent out with the next batch. (hoping for April, May at the latest). Phoebe's father was unable to make the trip with us to the NIH two years ago, so they are arranging for his sample to be sent from NJ. But this also means it will take a little longer for his sample to be sequenced since there is more paperwork involved.

​So for now, I await the paperwork so I can fill it out and send it back to the NIH.