Thursday, June 16, 2011

Because you care...

I want to thank everyone for their concern about my daughter, Jessica, and her blood test. I didn't mean to seem so mysterious about it. It's just that it's kind of a long story. Scratch that. It IS a long story!

My son, Jason, had a lot of medical issues growing up. In particular, he was born with a hole in his heart and was in congestive heart failure at 5 weeks old. He was put on Digitalis, a medication to slow and strengthen each heart beat. He was on that for a year. Jason was small for his age and hit the milestones of crawling and walking within the normal range, but just at the very end, like walking at 15 months, sitting up at 9 months, etc. I attributed this to the medication, although the doctors all told me that wasn't the reason. He suffered from numerous ear infections, especially the first year of his life, and they continued on through his youth. (As a matter of fact, he STILL gets them, and he's going to be 33 years old!)

Nothing was ever easy for my son. "Simple" procedures often went awry for whatever reason. One time when he had tubes put in his ears (to cut down on infections), the IV went funny and blew a vein or something and his whole arm swelled up. Another time he went in to have his tonsils and adnoids removed in an outpatient facility and after the surgery he began hemorrhaging so the doctors had to go back in and pack his nose and throat  and stop the bleeding. Then we had to get an ambulance to move him to the hospital (across the parking lot) to intensive care overnight for observations.

Jason had tubes put in his ears about four times. The last time it was done, he was about 11 years old. Again, an outpatient procedure. I knew something was wrong as soon by the look on the young ENT doctor's face as soon as he came out of surgery.

"We had to call the surgery. Your son started suffering arrhythmia (irregular heart beat)," he said.

"Oh my God, is he alright?" I asked quickly, my own heart beating irregularly.

"Yes, but," the doctor hesitated, "because your son moved his head a little, I dropped the tube into his middle ear. That's where it will stay."


Jason was wheeled to recovery and he seemed okay. But then he needed to go to the bathroom. He told me that all his muscles hurt, and indeed, he was bent over and walked like an old man. I helped him to the bathroom where he proceeded to urinate. I waited outside. I went back in to flush the toilet and saw that the urine was almost brown colored! My heart just about fell out of my chest. I KNEW something bad was happening.

I called the nurse and told her.

She, in turn, called the anesthesiologist.

The anesthesiologist came down to recovery and said, "Well, there is this RARE thing called MALIGNANT HYPERTHERMIA  (MH). It is a reaction to anesthesia. I just CAN'T imagine that your son has this! The patient's temperature goes sky high."

Jason ended up staying in the hospital for 5 days. They flushed fluids through him like you wouldn't believe. They weren't sure IF he had MH.

If a patient is given an inhalant anesthesia COMBINED with a muscle relaxant (for instance if they need to intubate the patient), which they did in the case with Jason, it can cause this reaction.

You can develop this allergic reaction at any time. The record is a patient who had 39 surgeries, and on the 40th surgery got MH.

Jason had numerous surgeries before this particular one.

That week in the hospital they did a blood test called "CPK". The usual rate is no higher than 140. Jason's was 160,000.

If a patient suddenly has a MH reaction, the doctor HAS to administer dantrolene. Since the introduction of this drug in the 1960's, death by MH had dropped 80%. (per Wikipedia).  (Unfortunately, when this was taking place in the early 80's with my family, many doctors never heard of MH, and some hospitals actually SHARED the dantrolene because it was expensive and had a short shelf life! How stupid is that! If a patient needed it on the operating table, they needed it AT THAT MOMENT!)

The only TRUE way to check if a person has MH is to do a muscle biopsy. About a 1 1/2 inch incision is made into the thigh, and a square inch of the muscle is cut out. Many tests are done to the muscle, include bathing it in caffeine. There are only 6 hospitals in North America (4 in the United States) that can conduct the tests. The biopsy cannot be sent by mail We were lucky that Northwestern University in Chicago was doing biopsies at the time.

Jason tested positive for MH.

Surprise, surprise.

This made me wonder about Jessica.

A few years later I had HER tested.

She, too, tested positive.

That was rare. Very rare. Now it seemed like we were on to something.

It turns out that MH must run in my ex-husband's family. A brother and niece also tested positive. A sister tested negative. So far 4/5 people have MH. That is NOT good odds.

Back to Jessica's blood test. I know. This is a long story. Bear with me.

In recent years it was discovered that there COULD be a marker in the blood called RYR1 to indicate MH. Fifty percent of the people who have MH will have the marker. So. You can HAVE MH and NOT have the marker, or HAVE MH AND have the marker.

If you have the marker, then ALL family members who have MH will have the marker.


We already know that Jessica has MH.

We want to know if she has the marker. We are, in fact, HOPING, that she has the marker.

If she has the RYR1 marker, this will save countless of people from having the biopsy done. They would only need to have the blood test done. Granted the blood test cost a pretty penny ($750), but still less than an outpatient procedure at the nearest hospital from IL - in Minneapolis.

It takes 45 days for the results of the test.

So say a prayer that Jess has the marker.

Because, not only will it help my nieces, nephew, and their children (my sister and I married brothers the first time around!), but also this directly affects my lovely granddaughter Lily.

And that's a WHOLE other story. Part Two next post.

For more information on Malignant Hyperthermia, visit or this link to Wikipedia.

By the way, Jason NEVER required open heart surgery; the hole in the heart healed on its own. The doctors thought it was a miracle due the the size and location of the hole; I wasn't surprised as I had so many people praying for little Jason. We all know the power of prayer!


Valerie said...

After reading your story, Pat, it was a relief to know that Jason's heart healed on its own. After going through all that it must have been a tremendous relief. I didn't know about Jessica - must have been when I was unable to get on your blog - but I would have sent prayers, you know that.

Brian Miller said...

whew...quite the story at that as well. prayers for your family and that she has the marker. scary stuff...

Bonnie said...

Oh my - such serious concerns for your children.
We never know what people have been through, or are going through. Hope all turns out well Pat.

Anonymous said...

prayers my friend...hugs and prayers<3

Eva Gallant said...

Wow. Jason sure has gone through a lot! I hope your daughter has the marker.

Bossy Betty said...

Oh, Mama! You have ben through it! Thinking of all of you!

Teresa - in the Middle Side of Life said...

wow - that is amazing. praying for her to have the marker. glad jason is OK now.

Missy said...

WoW! This is an amazing story. I will be praying for your daughter and her test.

Carletta said...

I have never known anyone who has had such an eventful life as you. :)
Praying for the postive marker.

Gail said...

Yes, the power of prayer heals. Saying one for your daughter and your family.

Lynda said...

WOW! Life is definitely more difficult for some than others. Praise God for the healing of your son's heart - -- - but yours has sure taken a beating over the years during his medical procedures.

SquirrelQueen said...

Oh my goodness Pat, Jason has been through so much. I'll add my prayers for the positive marker.

James said...

Very scary situation! I'm a firm believer in the power of prayer and I'll say a prayer for her!

Ruth said...

Pat, I gasped and gasped through your post. The ache of these experiences just blows me away. Thank god he has pulled through all this, and I'll be sending prayers your way about Jessica.

Betty Manousos@ Cut and Dry said...

oh, Pat, quite the story at that!

i'll keep praying for your daughter and all of you.
i strongly believe in the healing power of prayers.

betty xx