Emma’s Grace

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.

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.