Patience with Shades of Grey

I have a theory. God finds our weaknesses and puts us on a life track to combat these weaknesses. At least that’s how it has been for me.

I’m not good with being in limbo. It makes me anxious, irritable and nervous. Selling a house was torture. . .did they like it? Are they going to call with an offer? I would jump every time the phone rang for the 7 months the house was on the market.

I also do not have any patience. None. Zero. Zilch. Being pregnant was the longest nine months of my life. What would my child look like? Was she going to be a boy or a girl (what do you mean you can’t tell on the ultrasound????? This left me in tears). Then with my second child, going into labor at 32 weeks, then having constant contractions for the next 5 weeks while in the hospital and on bedrest was like God punishing me for not being a patient person. It had to be my fault. My poor husband. Did he realize he married someone with so little patience?

My children are so well behaved that luckily my patience isn’t tested often. I’ve also learned to take a deep breath and count to three (yes only three - I don't have the time to make it to 10!) when I’m feeling impatient. Why is my foot tapping? Why are my fingers drumming on the table? That’s my patience finding its way out of my body in an involuntary way.

I also know too much for my own good. I remember in OT school as we learned about the hundreds of different illnesses, congenital deformities and developmental delays that could happen to our children, wondering how any child could end up “normal.” We also joked amongst friends that irony will probably have our own children suffering from some of these issues.

Of my five closest OT friends (the Fab Five we called ourselves), between us we now have 10 kids. Eight of our children are completely normal. The two who have had delays and difficulties are my own. How could that be? My husband is athletic and intelligent. No history of obvious delays in his past. I’m not athletic, but I was always ahead of my peers in school work. We walked on time, talked on time and had a completely normal childhood. Why are BOTH of our children suffering with delays?????

First is Melanie. She seemed to develop normally for the first few months of her life, other than a strange pupil that was larger than the other resulting in a trip to Boston for an MRI at three months of age, then some funky positioning at five months old sent us back to the neurologist who found her to be “just fine.” But she didn’t crawl until after a year old and walking wasn’t until 16 months and even then she was soooo fearful of falling. Everything else came late too. The doctors said not to worry, she’s still young but we can have her seen by early intervention. Early intervention ended up working more on her speech than gross motor skills. Once she hit three years old she no longer qualified for early intervention and the doctor suggested to start physical therapy.

The PT worked on her balance, stairs, tricycle riding, etc. . .When I saw her evaluation form I about fell off my chair. Hypotonia was the diagnosis the PT had put down for reimbursement from the insurance company? Hypotonia? Was Melanie hypotonic? How could I have missed that? If it’s hypotonia doesn’t that mean there is a neurological component to her difficulties? I ran it past the PT. “Do you think we should have her seen by a specialist?”
“Wouldn’t hurt. You should follow your instincts. If you want answers you should search for them.”
Back to the doctor for us…I used the PT as an out. “She thinks we should have Melanie seen to see if there is a diagnosis we’re missing.”
“Hmm.. . She seems great to me. (based on what? Her walking five steps across the room?) I don’t really see any low tone, but I will trust your instincts. I’m sure you don’t want to go all the way into Boston. I know a developmental specialist closer to us that should be able to help you.”
“Ok, if you think that’s best.”

The developmental specialist was thorough and comforting. He was the first person who narrowed his eyes when I told him Melanie’s difficulties and really searched for a cause. He reviewed her MRI from three years previous and found hydrocephalus on the report.
“Hydrocephalus?” I asked. “No one ever told me the MRI showed hydrocephalus.”
“Yep and a thinning of the corpus collosum.”
“What does that mean?”
“I would say your daughter as static congenital encephalopathy.”
OK, I know my medical terminology pretty well. Static means not changing, congenital means from birth and encephalopathy is a condition of the brain. So she has something wrong with her brain since birth that is not going to get worse. It sounded like a category to me more than a diagnosis. It also sounded like the definition of cerebral palsy.
“Is it CP?” I asked him?
“Well, I didn’t want to use that term because of the negative connotations surrounding it. But yes, static congenital encephalopathy is another way of saying CP.”
CP? My daughter has CP? Well, I guess it makes sense. But I think a lot of people are tossed into that diagnosis because they just can’t determine what else it could be. For awhile I was satisfied. She continued with her therapy and her activities to help her get over her issues and fears. Horseback riding, gymnastics, dance, PT and me working on her skills at home as much as possible with obstacle courses, bike riding, jump roping, etc.

Then comes Kylie. She’s almost three years younger than Melanie. I remember at the visit where the specialist tossed out the diagnosis, Kylie was just over one year old and not talking yet. I mentioned it to the doctor that day. “Give her a few more months and give me a call if she still isn’t saying much by 18 months.”

At 16 months she started early intervention. Before she turned two we were back at the specialist for Kylie this time.
“Well, she has really low tone.” He tells me. “That could affect her speech. She can’t learn to talk if she doesn’t have the muscle strength to do it. She needs more than just early intervention. Get her started in speech ASAP.”
There’s that low tone term again. Neurological bells went off in my head.

More therapy, more activites, more work at home for all of us.

Something was nagging at me. Why these developmental issues for both my children? I asked the pediatrician. Could they be linked? Could they both have something? The same thing possibly that causes a little bit different symptoms?
“Why don’t we schedule an appointment with a geneticist?” The doctor suggested.
“Geneticist? Not a neurologist?”
“No, geneticist is the way to go.”
“Ok.”
The geneticist appointment took a LONG time to get to. They were scheduled months in advance. Finally we made it there. Melanie talked up a storm and showed off her skills. Kylie sat quietly on my lap with her thumb in her mouth. “They look great.” The doctor said. “I don’t think we’ll find anything, but let’s run some tests.”
Ten vials of blood and three months later we’re back for the results. “Nothing. They’re both fine. Come see me in two years and maybe there will be new research and new tests that we can do if you are still concerned.”

OK. It’s official. I’m psycho. I’ve put my children through all these appointments and all these tests and there is absolutely nothing wrong with them. I give up. I’ll just continue to work on their skills, continue with the activities and therapy (now the specialist wants Kylie to see a speech therapist outside of her school speech for more intense work and a PT and OT for work on her overall body muscles AND a child psychologist to address her OCD tendencies. Forget it. There’s nothing wrong with her. Why do I have to do all that?)

Then the phone call came. My mom had been having a lot of dizziness, balance issues, vertigo and lightheadedness lately. She had undergone lots of testing and now the diagnosis was in. “I have what’s called an Arnold Chiari Malformation.”
“Wait, I’ve heard of that in school but I can’t exactly recall what it is.”
“It means that part of my cerebellum is herniated below my skull. It can cause problems with dizziness and balance. I have to have brain surgery.”
My fingers start typing in google. Tons of websites came up. I started reading the symptoms list.

First I should back up. When I was 17 years old I started having trouble swallowing my food. Any kind of meats or breads or heavy vegetables would get stuck halfway down my esophagus and would just sit there. Sometimes it would go down on it’s own eventually (but nothing goes past, so any swallowing I do after it’s stuck comes back up. Ew). Sometimes I would have to go to the hospital to have the food pushed down. I was given swallowing tests, xrays, you name it. Nothing other that a very small hernia was found. But the specialist didn’t seem to think that could be causing all my problems. Eventually I was give the diagnosis of Achalasia (esophageal motility problems for NO KNOWN REASON). At the same time I started having problems with my hip. Unbelievable hip pain would bring tears to my eyes with each step I took. Another doctor, more xrays, more of the same, “I don’t see anything wrong.” He gave me arthritis medicine. It seemed to help a little.

Seven years ago my right ear clogged up. It felt like I had been swimming at 11 feet depth and the water was stuck in my ear and wouldn’t come out. My jaw and neck would hurt too, especially when I was tired. The ear pain/pressure was constant and unchanging. I went to two different ENTs and an audiologist. “I don’t see anything wrong.” Seven years later – the ear pressure is still there, same as it was day one.

Now back to Google. The symptom list came up. Here are the ones related to us:
Hydrocephalus
Vertigo
Ear pressure/tinnitus
Dysphagia (difficulty swallowing)
Esophageal Motility problems/Achalasia
Weakness
Incontinence
Decreased tone
Imbalance
Clumsiness
Slowness and slurred speech
Jaw/ear/eye pain
Chronic Coughing
Word retrieval difficulties
Leg cramping
Blurry vision
Joint pain (hips)
anioscoria (pupil size difference)

I read the symptoms over and over.
Click
Click
Click
Click

It all fell into place. Not just for my girls but for me as well. My hands were shaking as I called the pediatrician and explained it the best I could. The nurse was skeptical. She spoke with the doctor and called me back. The doctor was skeptical. Anger surfaced in me. For the first time in this journey I was really angry. I typed out a long and detailed email to the pediatrician with the research I had done and my daughters’ symptoms. They agreed to see us and were very nice (but still skeptical) when we came in. She granted us an appointment with a neurologist in Boston (finally!!), but it would take several months before we could be seen. Fine. I’ve waited this long.

Now, my turn. I called my doctor. He was less skeptical because he was generally clueless about Chiari – “What is it called? How do you spell it?” He granted my visit to a local neurologist. I went and was meant with outright skepticism and hostility. “Swallowing problems and ear pain are not associated with Chiari.” She said looking at me intently. “Your cranial nerves are intact and your balance is fine. I’ll do the MRI to appease you.” Fine. I don’t care if you agree with me, but as long as you’re doing the MRI I’m satisfied.

The results came back quickly. I went in for the appointment which lasted exactly 30 seconds. “No Chiari.” She said. I held up my MRI films I had brought in. “You don’t want to see these?”
“No need. I read the report. No Chiari.”

“Oh.” Wow. How sure I was. I looked at my girls. If I don’t have it, how could they? How could my mom have it, skip me and give it to them? The likelihood didn’t seem possible. Do we still go to Boston and put them through all that? I’ve waited this long, might as well.

The pediatric neurologist was nice, but skeptical. “Melanie’s balance issues warrant an MRI just to rule it out and put your mind at ease, but Kylie’s hypotonia is not associated with Chiari so an MRI on her would be fruitless.” She diagnosed Kylie with “benign congenital hypotonia” (low tone from birth for no known reason). I hate the “no known reason” phrase. More standing on one foot, hopping and running down a hallway. When is someone going to ask them to go up and down stairs or climb up and down a ladder? When are they going to ask them to jump off of a surface instead of just jumping straight up in the air? I do a more thorough exam on kids when I test them for OT.

Melanie’s MRI came back several weeks later and I received the phone call from the doctor with the results. I hadn’t had to have patience because I was convinced it would be the same answer as ever (She’s FINE). But this time it was different. “Melanie’s MRI shows a Chiari Malformation.”
“Really???”
“Yes. She should see a neurosurgeon.”
“Really?”
“Yes.”
“How could she have it and not me?”
“That’s curious. I’d like to look at your MRI when you come back to me for your three month follow up.”
“What about Kylie?”
“I think we should do an MRI on her as well.”

Really? I was in disbelief. Was I happy or sad? Relieved to know? Or upset about the possibilities for the future? I dove into more research and found 16 hours worth of Chiari videos on-line. I had my homework to do.

But how could I wait three months to have my MRI looked at again? Surely my neurologist will see the connection and offer to review it personally. I put in the call, then another, explaining the situation. She has not called back.

Kylie’s MRI came and went. This time I was very impatient for the results. I had to know right away. Finally they came in. “No Chiari on Kylie.”
“Really????”
“Really. Completely normal brain scan.”
“Good.” I was relieved. But I still didn’t like the phrase, “no known reason.”

More research. I’ve found that people can have Chiari even with a 0 mm herniation. A radiologist won’t even comment on that. The tonsils of the cerebellum can be positioned in such a way to block cerebral spinal fluid from going up and down. You can’t see CSF on an MRI. Could this be me and Kylie?

Off to Melanie’s neurosurgeon. . .Finally we will get some answers I hoped. He even agreed to take a look at my MRI report.

Wrong. More grey. Greyer than grey. He said sure there is a herniation there on Melanie’s MRI, but it’s not much. And by definable standards by the National Institute of Health not even classified as a Chiari. In fact your herniation (mine) is bigger than Melanie’s, but still not Chiari. So I DO have a herniation. . .I knew my neurologist should have looked at the scans herself. Kylie’s scans look fine. . .but should be monitored as well as she grows.
“Why the symptoms then?”
“Don’t know. Could just be one of those things. You can do an MRI of her spine if you want to see if there is a tethered cord, but no rush. . .”
Thanks for nothing. . .

So more research. . .numerous sources state that even a 0 mm herniation can be devastating. Now I know for a fact I have a herniation and maybe this ear pressure, neck pain and swallowing issues are related to it. My new found support group has all rallied stating the doctor sounds like a “ding dong,” and we need to be seen by someone who will look at more than just an MRI. We need a cine MRI to measure the flow of CSF as well as a variety of other tests. Off to my primary to try to explain this mess and see where we go.

I’m fine with what he said about Melanie. He agreed she needs to be monitored over time. When she hits puberty the herniation can increase. We need to watch for signs such as headaches, neck aches, dizziness, etc. And we probably should get the spinal MRI to see if her spinal cord is attached to her vertebrae. That could explain the leg cramps and other issues (don’t want to embarrass her here). Would we do surgery to correct that? Doubtful. I don’t think having someone poke around her spinal cord is worth it. The symptoms she has now are manageable.

For me, I need to do something ASAP. My swallowing issues are worse than they have ever been and the ear pressure seems worse too. I find myself taking Ibuprofen just about every day for the ear pressure and headaches. That’s something new. It has been there for a long time, but not to the extent that I couldn’t ignore it. Also my right eye goes foggy on and off, which has also been happening more frequently. (like right now this very minute!).

I told Tom last night that I need to live in a world where you can stick your finger in a scanner and the computer spits out everything that’s wrong with you. Then a little laser can zap your body and correct all the deficiencies. Why don’t we live in that world yet????

We have more appointments, more specialists and more info to slooooowwwwwwlllly discover. . .

Time for more patience and a willingness to see the world is just full of grey.