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.
Emma's Grace
