Unfortunately, rare diseases aren't really something to celebrate and certainly not something that is very happy.
In my blog posts, I focus so much on our two younger children - one with Asperger's syndrome and the other developmentally delayed - that I don't often talk about our oldest, John Allen.
John Allen was actually diagnosed with a rare disease that is on the National Organization for Rare Disorders (NORD) registry when he was 15 months old.
It all began when someone noticed a red spot in John Allen's left eye. At the time he was wearing a red shirt so we just thought that it was a reflection of his shirt. However, other folks, we included, began to notice the red spot when he wasn't wearing red at all. Finally, at the suggestion of a couple of friends, Sarah took him to the doctor. We were working full time at a Christian camp at the time and that day I was working construction (yes me, construction, but that is another story) on a new cabin that was being built. I recall waiting and waiting for hours. The new building was perched on a hill so I could clearly see the road. Five o'clock went by...then six o'clock...then seven o'clock...long after the doctor's office should have been closed. Finally I saw her pull into the camp. All the doctor said was that something was pushing against the retina and it had detached. It was the retina that we were seeing though his pupil. They had scheduled an appointment with a specialist in the bigger town 20 minutes away the next day.
I went with her for that appointment. The doctor was very kind, examined John Allen, and told us almost the same thing that our family doctor had said. This time, though, he went into a bit more detail and told us that the thing that had detached the retina could be fluid or it could be a tumor. He slightly emphasized the tumor. When I reiterated that it could be fluid he agreed but again said that it could be a tumor as well. He added that he couldn't tell for sure but that he was going to make an appointment at the main office in Nashville where they had a sonogram machine that would take a sonogram of his eye and could tell what it was.
The next day Sarah's mom and dad drove with us to Nashville. I should have known something was going on when we were met at the door by a team of doctors, nurses and assistants with one doctor saying that they had heard a lot about us, but, I was in denial. I think we knew, but just didn't want to admit it. After the sonogram was completed, though, there was no denying it. John Allen was diagnosed with retinoblastoma. They explained that retinoblastoma was a fast growing cancer that needed to be taken care of right away. Thankfully one of the top pediatric oncologists in the nation was right in Nashville at Vanderbilt Medical Center and they agreed to see us "ASAP". Unfortunately, "ASAP" wasn't for five days.
"FIVE DAYS!" we thought! "If this cancer were fast growing, we don't want to wait five days!"
In a daze, we took the appointment sheet and walked out of the clinic. The next five days were a blur but there are a few things I remember.
I remember stopping at a restaurant on the way home and just sitting and holding John Allen with tears running down my face.
I remember telling the waitress that he had just been diagnosed with cancer.
I remember calling my parents up and telling them about the diagnoses.
I remember looking up retinoblastoma in an outdated medical encyclopedia only to read that 50% of children diagnosed with this ugly cancer died.
I remember praying for hours on end sometimes prostrate on the floor.
I remember a friend calling and suggesting we try to get an appointment at St. Jude research hospital, six hours away. They could get us in the next day.
I remember another friend calling and telling us that she knew a boy in college that had an artificial eye. She called him and he said that he had retinoblastoma when he was younger. She then said that his parents wanted to talk to us but wanted permission to call first.
Then, I remember the parents calling. They turned out to be our angels, Patsy and Lynn. They had just moved to Nashville six weeks before. They said the cause was a job transfer, but we knew better. God had moved them there for us. Patsy convinced us to keep our appointment at Vanderbilt and said that she would meet us there. We were complete strangers, but she didn't care. She knew what we were going through and wanted to be there for us.
What we didn't know then but now know is retinoblastoma is very rare. Here's what the NORD report says:
- Retinoblastoma is an extremely rare malignant tumor that develops in the nerve-rich layers that line the back of the eyes (retina).
- It is estimated to occur in 1 in 15,000-23,000 live births. Approximately 250-350 new cases are diagnosed each year in the United States.
Finally the day of our Vanderbilt appointment arrived. Two friends of ours drove the two hours with us to the appointment. Patsy was a bit late but arrived soon after we were called back into the examining room. The doctor examined John Allen for a long time and then began to explain what was going on with our little boy. We could tell that she was preparing us for something. Remember that all we knew thus far was that it was a fast growing cancer and that we had read in the old medical encyclopedia that only 50% of the children diagnosed survived. So, we were expecting the worst. After she carefully explained to us that she recommended enucleation (removal) of the eye and the tumor, she stopped, expecting us to fall apart. Instead we were almost overjoyed. We thought that our son may die. Instead, she was saying that she could get all of the tumor but he would lose his eye in the process. What was an eye compared to our son's life? Of course we agreed!
There was only one problem. A huge amount of tests and appointments had to be scheduled starting early the next day with the surgery scheduled the day after that. We agreed to get a hotel for a few days but I would have to take our friends home and then come back. Patsy, our angel, would not have it. She insisted that we stay at her home and that we use their extra car. Our friends could drive our car back to where they lived.
The next day was as rush of MRIs and CT Scans;. appointments with the oncologist and surgeon; and, of course, since Vanderbilt is a teaching hospital and retinoblastoma is very rare, every intern and their brother (at least it seemed) came to get a rare glimpse of a rare tumor. Needless to say, by the end of the day John Allen was just a little cranky! The next day we had many phone calls and visits from pastors and friends who prayed and sat with us during the surgery. The surgery was a great success, but we are glad that we caught the cancer when we did as it had begun to travel up the optic nerve. If it had gotten to the brain there really was nothing much that could be done.
Many, more appointments to doctors, specialists and occularists (artificial eye makers) have followed over the years but it has been well worth it. As I sit here typing this, our 18 year old senior in high school is working on his Latin. He is a healthy, super intelligent young man. Although he has adjusted well and used his one-eyedness to his advantage at times (he is a champion air rifle shooter), he still has difficulties. For example, he still at times, runs into things on his blind side, and, with less peripheral vision and no depth perception, he still is skittish about driving a car. Nevertheless, just as he has learned to adjust in many areas all of his life, so he will learn to adjust in those areas as well.
People with rare diseases have to adjust in many areas in life. That's why they have "Rare Disease Day". According to the Rare Disease Day Website - http://rarediseases.org/:
"Rare Disease Day is about raising awareness worldwide
of the common challenges and experiences
faced by rare disease patients and their families."
So, although, I have missed it by a couple of days, as a father of a child that had a rare disease, I want to help raise that awareness. Did you know that:
Those statistics astounded me, but, what can a normal person do to help? Other than holding the door for a person in a wheelchair or not staring at someone that is different than we are, what else can be done?
There are many things that can be done. To0 many to list here. However, there are many great websites on the internet where you can learn more. To find where you can learn more about rare diseases, rare disease day, and how you can help the patients of rare diseases and their families, go to the NORD website at http://rarediseases.org/ or the Rare Disease Day website at http://rarediseaseday.us/.
Please help us to raise awareness of patients of rare diseases and their families. Thank you ahead of time from John Allen and the Tinkels - just one of the many families that you will help!