Rare Disease: When your Child is Diagnosed

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Hearing your child has a medical condition is hard. But, when the diagnosis is rare, there is a whole new level of fear. By definition, a rare disease is one that doesn’t happen often. This means few people, including doctors have heard of it, or know how to treat it. The ironic thing about rare disease is that according to the Genetic and Rare Disease information Center (GARD),25-30 million Americans currently live with a rare disease.

What is a Rare Disease?

Currently, there are approximately 7,000 existing rare diseases. One out of every twenty people live with a rare disease at some point in their life. There is no cure for the majority of these diseases and many go undiagnosed. In the United States, a rare disease is defines as a one that affects fewer than 200,000 Americans at any given time. 50% of those affected are children.

What is Rare Disease Day?

Rare Disease day began on February 29, 2008 by EURORDIS and its Council of National Alliances. This day was chosen because the 29th is a rare day in itself. Each year, Rare Disease day is held on February 28th. The objective is to raise awareness among medical professionals, researchers, law makers, and the general public about rare diseases.

2 month old Faith. Ready to fight!

Finding out your Child is Rare

Every parent probably feels like their child is one in a million. But when you have a child with a rare disease, you may not be too far off. Faith’s condition, Hirschsprung’s Disease (HD), affects 1 in 5,000. However, her specific form of HD, Total Colonic Hirschsprung’s Disease (TCHD), affects between 5-10% of HD patients. This means her condition is approximately 1 in 250,000 births. She has a rare version of a rare disease.

Shortly after Faith was born, we knew something wasn’t quite right. She rarely pooped without the help of a suppository, and she was not gaining any weight. Her nurse practioner tried everything…testing, therapies, changes in formula. Nothing worked for long. Faith weighted 6 lbs. 9 oz. at birth, and at 2 months she was struggling to reach 7 lbs. After weeks of weekly doctor appointments to monitor weight, Faith’s pediatrician gave us an ultimatum. If she was not over 7 lbs 2 ounces by her next appointment in a few days, she would send us to the emergency room as failure to thrive.

The day came for the weigh in. I remember being so nervous laying her on the scale. The few seconds it took to register her weight seemed like it was going an eternity. And then, it flashed on the screen. 7lbs 2 oz exactly. Her pediatrician looked at me, and shook her head. While she met the goal, she did not pass it. She was sending us to the hospital.

The three hour drive to the Children’s hospital was of course scary, but oddly full of hope. I was hopeful that we would find out what was going on with our sweet little girl. We had no idea what it was, and really couldn’t speculate. All we could do was pray that we would find answers.

After a couple of days in the hospital for observation, the pediatric surgical team visited us. They reviewed Faith’s case, and wanted to test her for Hirschsprung’ Disease. The whole meeting is a distant memory, like a fog. I only remember asking if the doctor wanted to perform the test to confirm his suspicions or was it more likely to rule it out. I distinctly remember him saying to rule it out. So, for the next day I scoured the internet for information on Hirschsprung’s.

Faith in the hospital before her ostomy surgery

Everyone knows that consulting Dr. Google is one of the worse things you can do. You put in a few symptoms of a common cold, and up comes a diagnosis of some offbeat condition where you have 72 hours left to live. So, knowing this, I cautiously searched for HD. But you know what? There was very little information available. There were a few colorectal centers at hospitals that gave some basic information. But it was enough information, afterall, Faith had not been diagnosed yet.

Our HD warrior

Then the diagnosis came. It was HD. Her surgeon and nutrionist came to break the news to us. I can still see the somber looks on their faces. Yet, I felt overwhelming relief. There was a name to what she had! We were not crazy or imagining things. So, back to Dr. Google to dig a little further. I needed to know the treatment, how it is diagnosed, could it have been avoided, was it something I did or did not do? And the hardest thing to look up, the prognosis and mortality rate. During that search, I remember coming across a little information about TCHD. Remember, HD is rare, and TCHD is even rarer. The main information I found came from online medical journals. My head was spinning trying to understand the medical jargon. I remember thinking, I sure hope Faith doesn’t have that.

Faith was scheduled to have surgery to place her ostomy bag. Handing my baby over and watching her being wheeled away was probably the hardest day of my life. I felt so hopeless, and although Anthony was standing right next to me, I felt alone. We went to the waiting room to wait for updates on her progress. Finally, the receptionist in the waiting room called for us. The surgical nurse had an update. The nurse told me that cells were missing into her small intestines. My heart sank. I knew that meant TCHD. And from the little I was able to read, I knew that meant things would be more difficult for her. My little angel, my precious girl, had a rare form of a rare disease. What would her future hold?

Gymnastics Class

Raising Someone Rare

We have come a long way since we first got her diagnosis. And we still have a long road ahead. We have had many sleepless nights worrying. But, Faith is doing great. She is growing by leaps and bounds, carries on full conversations, can spell and write her name. She also loves to participate in activities like dance and gymnastics. When people meet her, they often comment how smart she is for her age. They have no idea she has a rare life-long condition.

But she does. Parenting a child with a rare disease is like being a member of a highly exclusive organization. Except it is a club that you don’t want to be a member of.

I am thankful for the internet, especially Facebook. Otherwise, I would feel totally alone. I don’t know anyone personally that is affected by this condition. That is the thing about rare diseases. Since Faith’s diagnosis, I have had so many questions and concerns. And, if it wasn’t for Facebook groups I would have no one to talk to about them that understands.

Getting ready for dance classh

You learn to advocate for your child. You become the expert. This tends to be very intimidating. Prior to Faith, I looked to doctors for explanations of medical illnesses. If I got sick, I went to the doctor and expected them to know what was wrong, and how to fix it. But, since Faith, I have learned this is not always the case.

Don’t misunderstand me, Faith’s medical team is wonderful. Fortunately, she is not the first child with HD they have treated. But, it is still not something they see on a daily basis. I quickly realized that my husband and I had to become the experts. While medical experts have the technical knowledge and training, they do not have the day-to-day knowledge of what living with a rare condition is like. There is no cookie cutter treatment for HD.

As parents, we have had many trial and errors as to what works for Faith and what doesn’t. I think this is the hardest part of raising a child with a rare disease. So little is actually known about the condition. Even though many people are affected by rare diseases, a specific disease only affects a small portion of society. Therefore, funding for research is limited. So, those of us who are affected are left up to our own devices.

Horses and Zebras

After Faith’s diagnosis, I had a talk with her nurse practioner. She told me that Faith was a Zebra. I asked her what she meant. She told me that while she was in nursing school she was taught that diagnosing an illness is like a horse versus a zebra. The majority of the time the diagnosis is a horse. Something common, staring you right in the face. So, don’t go looking for Zebras. But, in this case, Faith is a Zebra.

Remember, Rare Disease Day is February 28th! I Love Someone Rare and chances are you probably do too!

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