Why I Don’t Have to Wait for My Son’s Diagnosis to Become an Advocate

“The quality of your life is in direct proportion to the amount of uncertainty you can comfortably deal with.” —Tony Robbins

When my son’s doctor called me on March 19, 2013 with results to a recent blood test, I wasn’t too shocked to hear that he was anemic. At 18 months old, Joseph had started eating his crib, books, papers, baby wipes and almost anything he could get his tiny little fingers or mouth on. I knew this was called PICA which I had read about in one of my many pregnancy books. Typically, it meant one had a vitamin deficiency of some sort. In addition, for a child living in a sunny, warmer climate, his complexion was quite pale and at this time even ghostly.

“OK so we just need to give him iron, right?” (Three years later, I can laugh at myself for being so naive. I truly knew absolutely nothing about anemia. Nothing.)

“Well not exactly. How well does Joseph eat?” At that time, he was sitting in his high chair munching on pea pods, and I looked over to him. He gave me the biggest smile. This is the very smile that has never wavered a day throughout this process no matter how hard things have gotten. This smile has gotten us through some dark days together, but it also has come to be a detriment to Joseph in the quest for answers and support because he “looks so happy.”

“He eats incredibly well,” I said defensively.

“I need you to come to my office so we can talk.”

My body froze. My mind raced. I was numb as the tears started rolling down my cheeks. This is the exact moment our lives changed forever. I quickly learned at that doctor’s visit that anemia is a symptom, not a diagnosis. When a child eats well and is anemic, something else is wrong that is causing the deficiency. There is always an underlying cause, period. There are flow charts, cell sizes and other counts and tests that can push doctors into a bottle neck of other tests and probable diagnosis. There are amounts of time you should be on iron to see improvements. There are other vitamins, hormones and proteins with their levels that show other problems — a whole body network of communications that allow this complex vitamin to travel to every organ of the body. Yet, iron can be something incredibly toxic and even deadly if you take too much. Who knew? I certainly didn’t. Iron deficiency can result in  sideroblastic anemia, hemolytic anemia, sickle cell anemia and the list goes on of all sorts of anemias. Anything from cancer to not enough vitamin B12, blood loss to malabsorption, can cause anemia, and each one of those anemias has a name.

The problem is no one on this Earth can help us if we cannot identify the type of anemia and where it is coming from. As one of his doctors said to me in May of 2013, “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. If it were my child, I would want him off the iron as soon as possible.” Those words have stuck with me and almost haunted me for over three years. I am sure he came to regret those words quickly when I kept looking to him for that answer.

Test after test after test. Hospital after hospital. Doctor after doctor. Bottle of iron after bottle of thick, black iron. Trying to wean back the amount he was taking only to increase it again. Are we helping him by giving him iron or are we feeding a disease?  We went for blood test after blood test, sometimes coming even weekly. We tried medication after medication to solve a problem we had no idea how to treat. Text after email after text again between family, friends and doctors. Airplane rides nonstop trips. Scans, scopes, bone marrow aspirations, infusions, nuclear medicine and X-rays. Swallow this. Do not eat for 12 hours. Countless sedations. Let’s try this medication.

Maybe this is just the beginning. Maybe he will outgrow it. Maybe, maybe, maybe.

Maybe it’s something serious, maybe it isn’t. We don’t know what to do any more. One doctor telling us, “It isn’t my department.” The next doctor saying, “It isn’t mine either.” Something clearly isn’t right. Levels look good, stop the iron. Start the iron again. Three days, four days, five days, seven days on iron. Where did all his iron stores go? “I have never seen this in 26 years of being a doctor. Children who eat well should not need iron this long.” Other levels that read one thing, only to do another test and have it read another. Nothing is ever quite completely “normal.”

It was a ping-pong match back and forth that would make anyone dizzy. With no direction and no plan, I was completely heartbroken and just completely shattered. I wasn’t able to help him and I felt, as his mother, I had failed.

The iron levels in his body rise and fall just like the tides go in and out, only there is no rhyme or reason. His iron levels fall, regardless of the amount he gets. Without iron, he becomes a different child completely battling speech and language difficulties, behavior changes and an inability to stay well (fevers, pneumonia, increased asthma) which all seem to correlate with the dropping level. The people who are closest to him have learned to recognize these changes and these changes have become the barometer of which we set our lives. He is a 4-year-old who says he doesn’t feel well, hears ringing in his ears and complains of being tired with headaches. He should be playing until we tell him it’s time to rest. “I am too tired, Mommy. Can I go to bed, Mommy?” We sit out on some of our family time together as he is just too tired. I reached out as much as I could to those who cared, didn’t judge and didn’t need an answer to believe there was a problem —people who wouldn’t say the wrong things, as those words stuck too much to let them go. Then I did what any mother would do at this point, I had a drink(s) to drown my sorrows. Sadly that didn’t bring any answers either and truthfully only made me feel worse. The tears, the anxiety, the sleepless nights, the scary possible diagnosis doors we knocked on, waiting, the uncertainty and loss of hope were completely debilitating.

At the start of all of this in 2013 I thought I was running a sprint to the finish line, so consequently my life, including the rest of my family’s could wait. When I was almost to the finish line it was as if someone said, “Sorry we actually made it a 10K.” I pushed on, more tired than if I would have been prepared and set a good pace. When I came to the next finish line, it was as if someone said, “Actually today you are running a marathon.” Finish line after finish line the course, the type of race and where it ended, changed. Now it is an unnamed race through the desert with no water and with no finish line in sight. I wasn’t prepared as I was sprinting from the start. I was tired but I just had to keep going for my son. I continued to put my life on hold saying, “When this is over…” “When this is done…” “When we find out how to help him…” and “When we get the answer…” The sidelines of support started off packed full of family and friends, but as time passed those spots slowly faded to empty as many know little on how to be a support to us when we don’t have an answer. A few of the strongest, most empathetic, best types of family and friends are still there cheering us on and helping us hold out for some hope. I am thankful for them every day.

Our son has defied medical logic and baffled some talented doctors at some well known hospitals. I actually thought as his mother I could find the answer myself through countless hours of research, reading and studying. Consequently, I now know more about blood than the average mother, but I too was unable to find an answer despite my incredible dedication and determination.

It has been quite the journey. I have learned that as I continue to run this unnamed race through the desert with no water, it is OK to stop and rest. It is OK to take a day off. It is OK to say I am tired. It is OK to ask for help. It is OK to be upset.

It’s my child after all.

There is no right way. There is no wrong way.

My life needs me just as much as my son does, and there is no saying how much longer this will go on. Like on an airplane, I need to put the oxygen mask on myself before I put it on anyone else. My faith is strong and I do believe what is meant to be will be when the time is right. There is a plan for us and for Joseph, we just don’t know what it is, yet.

I will never lose hope that the answer will come and we will be able to help him. The Band-Aid can then finally come off and we can treat whatever the true problem is. Recently, I have started to prepare myself that the answer and that finish line may in fact never come. This could just be our life. However, perhaps the only preparation I need is to accept that “undiagnosed is a diagnosis.”

In an effort to keep hoping, we have applied to the Undiagnosed Diseases Network (UDN) at the National Institutes of Health (NIH). We are currently waiting patiently to hear news with suggestions of what to do next, acceptance into the program, or  to find out that we are in no different place than we are today. As Dr. William Gahl, founder of the program, calls the NIH, “The National Institutes of Hope” this is exactly what is being given to so many undiagnosed families throughout the world, hope. The NIH and the Undiagnosed Disease Network are changing medicine as we once knew right before our very eyes. Even if they are unable to help us, I am so happy many people and families can use this option to gain direction, insight, or maybe even some momentum and validation to keep them fighting.

The other night I said to a good friend that after this is all over, I will make a difference somehow because I have learned so much over the last three years that I want to share with other parents — any parent who is undergoing stress in their lives that stops them from functioning like the parent, wife, husband or friend they once were.

I want to be that voice or person for someone, so they can say, “I am not alone.”

That  is what I really needed for the last three years. Then I thought, why does it have to be when we have an answer? Why can’t it be now? I don’t need to sit quietly any longer just because we don’t have an answer. There is a story to tell already. It is time people learn what makes me the mother, wife, daughter and friend I am today is partially because of this journey our family has traveled since March of 2013.

When I made the choice to speak up, I learned, ironically, that day was April 29, Undiagnosed Disease Day. This was as good a day as ever. All this time I thought we were alone in our quest to help our son, yet all sorts of people, from all over the world have been running the same emotional race all along, alone. Maybe the amount of uncertainty we all can comfortably live with can expand by the sheer comfort of knowing we are not alone.

Follow this journey on Undiagnosed 2016.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? Check out our Submit a Story page for more about our submission guidelines.