Emma's Grace

We had a neurologist appointment on January 22, which generally went well.  One item that we learned during that appointment was the explanation for the initial Canavan’s diagnosis.  The diagnosis came about due to the high level of NAA in the urinalysis that was run at the hospital.  After the contradictory results from the MRS, the urinalysis was re-examined.  In fact, the NAA levels were not high, but were the result of a misreading: the level of another chemical was mistaken for the level of NAA.  Then, since Emma was still doing poorly after her bout of seizures, the physical exam seemed supportive of the Canavan’s diagnosis.

Those six days were a nightmare, and by far the worst in our lives.  However, neither of us hold anything against the doctors for this mistake.  Errors happen, and the doctors followed up appropriately.  We suffered from a bad combination of events, starting with the misread of the urinalysis, compounded by how poorly Emma was doing that day, extended by the radiologist leaving before we had results (he didn’t know we were waiting for them), and finally extended even further by the holiday weekend.  Almost any other time that this could have happened, the mistake would have been caught in a day or two.

The doctors involved apologize for the mistake, and we warmly accept the apology.  As we have expressed, we would rather they think they found something, tell us, and go through the process of confirming or disproving it, rather than miss something and make things worse in the future.

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I write this blog not only as an update for all of our family and friends, but as a journal for Jon & I to keep track of things that have happened and when they happened. This post is what happened December 29 to January 2. For 6 days we lived with this diagnosis. In those 6 days we informed our families and a couple of friends of the nightmare that we were going through. We all grieved for what we thought we had lost. I am thankful and elated to say that Emma’s second diagnosis is now false. While we suffered through it, further test results show that she while she suffers from the IS, we still do not know what is causing it.

If you are going to read further, I will give you a warning. You may want to grab a box of tissues.

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December 29 was a quiet day at home for us.

December 30, we were to go to Fostoria to my parents for our family Christmas. We had decided to tell our families the news. Because of this being a genetic condition, it was possible for both of my sisters and Jon’s brothers to be carriers. We wanted to make sure they knew before anyone could get pregnant again.

We suffered through the day. Any little mention of Emma’s future would bring a tear to our eyes and a quiet glance at each other from across the room. We tried to be festive and enjoy the day. We had decided to tell everyone after Matthew had gone to bed. Matthew still had no idea what was going on and we had no idea how to tell him.

All was going as relatively well, until we opened gifts. At the end, my mom opened a beautiful box from my sister Kim. Inside was a pacifier. Kim was 3 months pregnant. As soon as I saw the pacifier, I couldn’t stop the tears. It was going to be even harder to tell our family after hearing this wonderful news. It was also even more important that we tell them; Kim needed to be tested as soon as possible. If she was a carrier, then her husband needed to be tested as well.

After Matthew went to bed, we gathered everyone around. As I asked for the TV to be turned off, my voice cracked and I wimpered that I couldn’t say the words. Jon, being my rock, did all the explaining. As he explained the diagnosis, the tears rolled down his cheeks. All the girls cried and the guys were being so strong. It was definitely the hardest thing I’ve ever had to tell my family. We explained the genetic connection and gave Kim the information she would need at her next doctor’s appointment.

The only thing capable of breaking the silence were Matthew’s cries. He had come down with Emma’s stomach bug.

The next day, we got up and had breakfast. Matthew seemed to be better and we slowly fed him. After checking with Jon’s mom, we had lunch and headed out on the road to Lansing. Jon’s brother Steve was coming to town. His other brother, Rich, and their family had decided to stay in Grand Rapids due to illness.

We waited until New Years Day to tell everyone. The kids were asleep so we had a small gathering in the kitchen where we broke the news. These days were very hard to get through. We went home that night after many tears and hugs.

January 2. We needed to get a DNA test for Emma to verify the Canavan’s diagnosis. It is currently the definitive test. As I was at the hospital, there was a question as to which vial to put the blood sample in. While I waited for Baylor University to call back regarding the information, we went down for some lunch. When I came back, I check in again. The lab tech came in and said I was to call Dr. McCormick right now. They had called her to see if she knew which vial to use and Dr. McCormick said she needed to speak to me right away. The doctor had canceled the DNA test and wanted another urine sample. I was extremely confused.

I called and get her right away. She was so happy to tell me that Emma’s MRI was normal. There was no sign of spongy brain matter, a sure sign of the Canavan’s. The MRS also showed normal levels of NAA. It was for sure … Emma did NOT have Canavan’s!

After we attached a PUCK (little plastic baggy with sticky stuff) to Emma to collect the urine sample (no turkey bag for her this time), I found the closest spot in the hospital with cell phone reception and called Jon with the amazing news. We couldn’t believe it!!! A miracle had happened. We spent the rest of the day calling family and letting them know our wonderful news. I don’t think Jon could get home fast enough to hug his little girl. She was going to live!

However, we still had no idea what was causing the IS. But, as we had been told so many times before, not being able to find the cause is the best answer. It is better for it to be a mystery and therefore, likely to go away on its own. A reason for the IS would mean that there was a more pressing problem.

So for now, we are working with the IS diagnosis. Her seizures are under control. Currently she is on Phenobarbital, Keppra, Topamax, and Vigabatrin. We are slowly weaning Emma off of the Phenobarb, 1 ml per week. After that is gone, the Keppra will be next. Emma is on a low dose (15 mg twice a day) of Topamax and a low dose of Vigabatrin (250 mg twice a day). As long as she remains seizure free, she will stay on those doses.

At the moment, we are hoping that Emma falls into the 15% of kids with IS that have no future problems. But the IS diagnosis is better than the Canavan’s diagnosis. Our baby girl will still be with us in the years to come.

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I write this blog not only as an update for all of our family and friends, but as a journal for Jon & I to keep track of things that have happened and when they happened. This post is what happened from December 26 to December 28; the next post will cover December 29 to January 2. For 6 days we lived with this diagnosis. In those 6 days we informed our families and a couple of friends of the nightmare that we were going through. We all grieved for what we thought we had lost. I am thankful and elated to say that Emma’s second diagnosis is now false. While we suffered through it, further test results show that she while she suffers from the IS, we still do not know what is causing it.

If you are going to read further, I will give you a warning. You may want to grab a box of tissues.

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We woke up on December 26 to find that Santa had indeed made his extra special stop at our house. Jon & I discussed with Santa that since Mommy & Emma were in the hospital, that he would wait and visit our house as soon as we were home. Thankfully, Emma also seemed to be over her stomach bug and we did not have to rush back to the hospital. We opened gifts and watched Christmas shows. While we enjoyed our day, the neurologist we saw in the hospital called us.

He wanted to inform us that the urinalysis had come back with an abnormal result. Her urine showed an extremely high level of NAA (N-acetylaspartic acid). This test was telling us that Emma had Canavan’s Disease.

Canavan’s Disease is a degenerative neurological disease. This disease is always fatal.

Our world stopped.

We had an appointment with Dr. McCormick the next day. The neurologist from the hospital was going to call her and let her know the results as well. We looked up as much information as possible and were pretty much up to speed when we walked into her office on December 28.

Canavan’s typically shows up from 3-6 months of age. Symptoms include developmental delay, enlargement of the head, loss of muscle tone, poor head control, apathy, and severe feeding problems. As the it progresses, seizures, blindness, paralysis, deafness, and inability to swallow may also occur. Children die in the first decade of life, most usually between the ages of 2 and 4 years.

In the last month, we had seen Emma regress. We believed it to be due to high doses of medication to control the seizures. With this diagnosis, the pieces fell into place and we believed that she was showing signs of Canavan’s. She had been experiencing the delay, loss of muscle tone, lack of head control, and of course, the seizures. Also, we couldn’t remember the last time we had heard her cry in any sort of discomfort. She sleeps through the night without eating. Upon waking, she did not cry or fuss to be fed. She would eat in the morning, stay awake for a couple of hours, and then sleep for 3-4 hours. Upon waking, 6-8 hours after she had last eaten, she would not cry to be fed.

Canavan’s is a pretty rare disease. There are only about 500 cases in the United States …. 4,000 in the world. It is relatively common for the Ashkenazi Jews. They have a 1 in 40 chance of being a carrier. It is also common to Eastern Europe and Saudi Arabian descent.

Sadly, there is no treatment for Canavan’s. There is one study being conducted in gene therapy. The therapy includes brain surgery to inject millions of virus into the brain with the hope that they will infect the cells and replace the bad gene with the corrected gene.

Because this is a genetic disease, it meant that Jon and I were both carriers of the defective recessive gene. Because of this, there was a 25% chance that each child we had would have Canavan’s. There was a 50% chance that any child we have would be a carrier. Thankfully, Matthew does not show any signs of Canavan’s. However, he could be a carrier. We would have to decide if and when to have him tested. Any more children we decided to have would also fall into these statistics.

Not only were we mourning Emma leaving our lives long before she should have, we were faced with the weighing the odds of having any more children.

We spoke with Dr. McCormick. She did an examination of Emma. She scratched her nail up Emma’s foot hard enough to leave a white mark. Three times she did this, and on the third time, Emma moved her foot like we had tickled her. Dr. McCormick also rang a bell and clapped her hands a foot from Emma’s ear. Emma did not react. Based on the overall exam and the things that we had told her had been going on, she agreed with the diagnosis of Canavan’s.

She had wanted a MRI and a MRS done on Emma, which we had done just before our appointment. If this was Canavan’s, the MRI would show that she had spongy brain matter and the MRS would show a spike in the NAA in her brain. We were to call the office on January 2 to find out the results and to let the doctor know how Emma was doing. She told us that she desperately hoped that they were wrong.

We left that appointment with our hearts broken. Just the day before we were crushed to learn of the IS. I had been grieving for her and the things she may not be able to experience. Simple things….first kiss, first date, driving a car, prom, college, husband, kids. As we left, we were grieving for our daughter, who was going to slowly deteriorate until she couldn’t move, eat, see, or even process the world around her. We were also grieving for a brother who loved his baby sister but would never be able to know her.

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The weekend before Christmas all the way until New Years was a really rough time for us. Here is the first part of what happened. I will continue in a couple of days.

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Friday evening (December 21), Emma had been having a fever for 3 days and each time the fever came back, she would seize. After giving her a dose of Motrin in the early afternoon and 1.5 hours later the fever was back and she started seizing. Right after she started, I packed my things and took Emma to the hospital. After stopping her immediate seizures, they decided to keep her overnight for observation and so the neurology department could take a look at her in the morning.

In the morning, after talking with neuro, they scheduled another EEG and a lumbar puncture. Topamax was also added to her list of anti-seizure drugs. Topamax comes in a pill or in sprinkles. Emma takes the sprinkles in a small bit of baby food to make it easy for us. The sprinkles don’t dissolve well in water, and proved to be a bit difficult.

We did the EEG. Emma was bundled up and the test was run. The EEG tech didn’t say anything so I didn’t really know if anything had happened. Emma was so smooshed together that she was asleep and could give no indication of seizure activity.

Sunday we waited to see the EEG results and to see how Emma did on the Topamax. She still had some seizure activity Saturday evening and neuro wanted her to be seizure free for 24 hours before they would let us go. Emma seized some more Sunday evening so I wasn’t sure if they would send us home on Monday or not. We were really hoping to be home for when Santa would be home.

Monday morning (Christmas Eve), the pediatricians came by and ran through a summary of what Emma had been doing. In the run down, it was mentioned that the EEG results were in and indicated Infantile Spasms (IS). I waited for neuro to show up to give us a more concrete diagnosis, but they never came. Jon and Matthew came to visit us at the hospital. Before running off to get some dinner, we asked the nurse about contacting neuro again. One of the pediatricians came down and informed us that we were waiting on a new drug to come in to give to Emma. So we were to stay another night in the hospital.

Jon did a little bit of research on IS and filled me in on the details. While IS has a pretty simple name, it’s results aren’t so simple. The spasms themselves aren’t so bad. They are characterized by the arms going out and the body jack-knifing. With certain medications, the seizures are controllable. The future statistics are what keep us wondering. It seems that the symptoms of IS clear up by age 5. There is a 50% chance that Emma would have some sort of mental retardation, possibly very severe. There is another 50% chance that Emma would have Epilepsy growing up. Only about 15% of cases manage to come through it without any side effects.

It seems that the best outcomes of IS comes from those cases where it is very hard to diagnose and/or have abnormal symptoms. We aren’t sure if Emma’s was hard to diagnose, but she did have abnormal symptoms. She has never jack-knifed that we’ve seen. Different types of seizures can also arrise. We are hoping that with the lack of the basic seizure and only signs of other seizures that she falls into the abnormal symptoms.

There are only a few treatments for IS. ACTH is one. ACTH is a hormone injection with some bad side effects. Vigabitrin is another. Vigabitrin is not approved in the USA. We would have to obtain this drug from Canada. It would also not be covered under the insurance. A ketogenic diet is another treatment for IS. In Emma’s case, she would have to take a special formula instead of breastmilk.

Finally, on Tuesday (Christmas Day), neuro came by and explained Emma’s diagnosis to me a little more. I gave the OK to start her on Vigabatrin. I received a prescription for that. We were released that afternoon.

That evening, after putting Emma down for a nap, I found her awake and she had thrown up. I didn’t think much of it since she had been a little congested in the hospital. Later that evening, after giving her the meds and feeding her a bit, she threw up on me a few more times. I called the hospital and they advised us to give her sips of apple juice and skip the evening dose of meds. If she continued in the morning and couldn’t take her meds, then I would have to bring her back to the ER. Thankfully she was feeling better and kept everything down.

More to come…

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