The Day I Received a Call From the Undiagnosed Diseases Network
There is a picture hanging in our guest bathroom that has hung there for the past three years. It was a gift from my mom. It reads:
“The funny thing about joy is that you only really find it when you are too busy having fun to go looking for it.” – Unknown
After having an amazing day of laughter, friendship and the things I love most like lunches, a great workout and shopping, I looked at my friend and said, “This was the best day ever!” I had truly forgotten we were waiting for a call, email, or some sort of communication from the National Institutes of Health (NIH) in response to our application. Given it had been over eight weeks since the Undiagnosed Diseases Network (UDN) received all of our son’s records, forgetting we were waiting was no small feat, but truly a very welcomed change. We laughed as we were nearly late to pick up our kids from school, but yet made it by the very skin of our teeth. One thing I have worked very hard on over the last three years is enjoying the small moments in life despite the fact big things in our life with our son felt out of control. On a tight schedule to get to the next set of after school activities I told my kids we had to leave right away. In typical fashion, my daughter wanted more on the monkey bars. “Just one more time mommy.” Her famous last words. In an instant it happened. The screaming echoed through the school yard and my mommy sensors went off as I darted toward Isabella. I had weird tunnel vision as I dove in my dress into the sand, swooped her up and ran her inside as I thought the air conditioning would do her a world of good as she had already briefly passed out. She was green with discomfort and started to vomit. People around me tried to tell me they didn’t think her arm was broken, but my mother’s intuition apparently has X-ray vision too, because I assumed otherwise. Her arm was splinted and we drove straight to the hospital, where my husband met us. It was broken. Despite this news, I found a way to be thankful it was a clean break and didn’t require surgery. Life happens.
While we were at the hospital I briefly looked at my phone for first time all day as we waited for her X-ray. I had received a call from the NIH, but I was so busy having fun all day and so busy being a mom to one of my other kids, I never knew. Looks like that picture hanging in my bathroom turned out to be great advice — thanks Mom! As my face dropped I looked at my husband and said, “They called.” We exchanged glances and with one look and no words we both knew it would just have to wait. Isabella needed us both at that moment despite the face we had waited all this time for that missed call. You are always where you need to be (more advice from my mom). It just wasn’t our time. Tomorrow would come soon enough.
As I walked outside the next morning to take the dog out the sun was rising over the canal. As the warm air blew through my body something felt different, I knew today was the day. For the first time in three years, I was completely at peace. No matter what today’s news was, it would change all of our lives forever. An answer, acceptance, or complete rejection from the world’s top research hospital, this was it. None of those options would speak lightly.
As we stood at the fork in the road of one of the greatest emotional races of our lives, someone was about to give us direction. Direction which I had finally accepted and was welcoming with open arms, no matter where it told us to go. I said goodbye to my kids (my daughter with the broken arm stayed home), made my coffee, took a deep breath and slowly dialed. Thinking I was going to get a voicemail, I was shocked when the woman I was calling answered her phone. The anxieties, emotions and feelings surged through my body all at once like a jolt of electricity. With three years of built up emotion I told her who I was. She asked me if I had received a letter. I had no idea what she was talking about in the slightest, but knew I could thank the mail system where we live for the delay. At the exact time she was explaining to me what it said, my other line started to ring, then my cell phone, my texts were dinging, and my email. I knew it was my husband who only goes to those lengths when it is very important and I don’t answer. As it turns out my husband was calling me to tell me we got a letter from the UDN at the exact same time the woman was telling me what the letter said. Talk about timing. Tony and I got the news at the exact same time.
We are happy, very emotional and shocked to share that Joseph has been accepted to the Undiagnosed Diseases Program at the National Institutes of Health in Bethesda, Maryland. When I asked her how many kids they accept into the program per year, I was expecting to hear a higher number. When she told me 50, I repeated the number to her with a question. She confirmed, 50 at this site out of thousands of applicants. The tears rolled down my cheeks.
Grateful is an understatement.
Ironically, this news came to us on May 6, 2016 exactly three years to the date Joseph’s doctor said, “We could continue to give him iron for the rest of his life, but that’s just a Band-Aid. You need to find the underlying cause and treat it.” It was the first day we ever met him.
While the absolute best news would have been a diagnosis with a plan, we have to have take comfort that the team reviewing Joseph’s case could see the very things keeping us up at night. In life, when you are faced with a medical question you cannot get answers to, it is easy to question the quality of the doctors, just as it is easy for those doctors to question the severity of the problem. It’s a perpetual spiral of uncertainty that would make even the most sane person and doctor extremely frustrated. With that letter, with that call, with this acceptance, the spiral has been broken.
“Being a mother is learning about strengths you didn’t know you had and dealing with fears you didn’t know existed.” – Linda Wooten
If you are a mother reading this looking for an answer, a mother hoping for an answer, a mother with a child in the UDN, a mother who has been denied into the program, a mother with a child of any sort of illness — know it isn’t easy and you should never let anyone convince you otherwise. Perception is reality.(Thanks, Dad!) Today you should celebrate “you” just as much as others are celebrating you. A mother’s love would climb the highest mountains for her kids and this is something of which we should all be proud. Try to find some small moments of joy in your life, and you never know what might happen.
Follow this journey on Undiagnosed 2016
Lead photo source: Undiagnosed Diseases Network
Margaret is a mother trying to balance life with three children, a husband and a child who has an undiagnosed disease for the past six years. She has stayed very quiet and private for sometime, but is finding that speaking up might just help some other people when they were unable to help their son.
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