Our Mae Annabel

I thought I had retired this blog. But, I am resurrecting it again and changing the name. I have taken off the tag “My Journey With Hodgkins” because that part of the journey is over (so far so good and hopefully forever!). But as all good journeys do, it has diverted us off the trail we thought we wanted to take and guided us to another, more abundant journey. 

For months we noticed subtle delays in Mae. Often times it wasn’t something we could necessarily put into words, just a recognition that her awareness was not typical for her age. At 11 months she was still not able to sit independently so our pediatrician referred us to an occupational therapist. After a few months of therapy it was suggested that we make an appointment with the Division of Developmental and Behavioral Pediatrics at Cincinnati Children’s Hospial (CCHMC for you non-Cincinnati folks). Mae went through an evaluation with DDBP and they identified “global developmental delays” which is just a general term for delays without recognition of a source. In order to locate the source of her delays DDBP ordered a wave of testing including an ABR hearing test, a brain MRI and blood draws for metabolic, chromosomal, and genetic testing.

The first result we received was that she has permanent hearing loss in her right ear due to an enlarged vestibular aqueduct. This turns out to be an anomaly of its own and is unrelated to any of her other issues. It is treated with a hearing aid. The good news is they make really cool hearing aids these days. She will be sporting that around shortly and we look forward to seeing her awareness and speech progress with the aid.

      

      Shortly after the brain MRI, we received news that she has a Chiari I brain malformation, a condition in which cerebellar tonsils of the brain grow down into the spinal canal which can cause a compression of parts of the brain and spinal cord and can interrupt the flow of spinal fluid in the spinal canal. It turns out to be fairly common.  It can cause intense headaches and other neurological issues but many people live their whole lives without even knowing they have a Chiari malformation. We were referred to a neurosurgeon who ordered a total spine MRI to get a better look at the extent to her Chiari.

The second MRI revealed a Tethered Spinal Cord, a condition in which the spinal cord is abnormally attached to the tissues around the spine. As a result, the spinal cord can’t move freely within the spinal canal, leading to possible nerve damage. Interestingly, Mae’s pediatrician had suspected she had a tethered cord when she was 2 months old because of the presence of several birthmarks along her spinal cord and a sacral dimple. However, he had ruled it out after an ultrasound of the area. We are not sure if the original ultrasound produced an inaccurate read or if the tethered cord had not developed enough at the time. The MRI also revealed a Syrinx (short for syringomyelia), a condition in which spinal fluid enters the interior of the spinal cord forming a cyst-like pocket which can expand over time and destroy the center of the spinal cord thus causing nerve damage. Among other things, a syrinx can be caused by a tethered cord or a Chiari malformation. It is rare that a person would have a syrinx, a tethered cord, and a Chiari malformation. But, Mae is a one-of-a-kind girl who does, in fact, have all three.

Following the MRIs, we met with Dr. Mangano, Chief of Pediatric Neurosurgery at CCHMC. In his opinion, the tethered cord is likely the cause of the syrinx rather than the Chiari (which he believes is probably asymptomatic). So, he plans to perform a surgery to untether her spinal cord. The goal is to free up the spine which will, hopefully, eliminate the syrinx and restore the normal flow of spinal fluid. Surgery will be on Wednesday, May 27^th and she will stay in the hospital through Sunday followed by a 2 to 3 week recovery at home.

In the midst of all of that, we also received chromosomal test results. We have gotten a quick education in genetics. Here is a link that gives the basics. Testing revealed that Mae has an unbalanced translocation.

“A translocation occurs when a piece of one chromosome breaks off and attaches to another chromosome.  This type of rearrangement is described as balanced if no genetic material is gained or lost in the cell.  If there is a gain or loss of genetic material, the translocation is described as unbalanced.” – Genetics Home Reference

More specifically, she has a partial duplication of chromosome 13 (13q22.2 to the end of 13q) and a partial deletion of chromosome 9 (9p24.2 to the end of 9p). For a cultural reference, a more common chromosomal abnormality is Down Syndrome which is when a person has a partial or full duplication of chromosome 21.

We had the honor of meeting with a team at the Department of Human Genetics at CCHMC, the largest pediatric genetics program in the country. Dr. Burrow and his team spent several hours talking through the science of Mae’s condition, the details of what this means for the present and how it will affect her in the future. Of course, there is a lot of “we have to wait and see” but it was encouraging to be able to build a picture of the future in our minds. They were quick to ensure us that Mae does not have full Trisomy 13 which usually comes with a fatal diagnosis. So, we have all been able to breathe a big sigh of relief. From what information they have, they believe that she should be able to live a long and healthy life. All of her major systems seem to be functioning properly, with the exception of her Central Nervous System as evidenced by her tethered cord and Chiari issues. The “wait and see” has more to do with her level of independence and pace at which she learns things, as it is with all people with intellectual disabilities. 

It is a lot of heavy things to process all at once. I was led to an On Being interview with Jean Vanier and it has really shaped my attitude. For those who are unfamiliar with Jean Vanier (I was until recently), he is the founder of L’Arche communities, intentional neighborhoods throughout the world where people with and without developmental disabilities live and work in community together. He was a close personal friend of Mother Teresa and is a lesser known transformational true angel-on-earth. He told this story in a speech he once gave and when I heard a recording of it, it really spoke to me:

“I don't know whether around here you have some normal people, but I find them a very strange group. I don't know—I remember—well, one of the characteristics of normal people is that they have problems. They have family problems, they have financial problems, they have professional problems, problems with politics, problems with church, problems all over the place. And I remember one very normal guy came to see me and he was telling me about all his problems. And there was a knock on the door, and entered Jean Claude. Jean Claude has Down Syndrome and, relaxed and laughing, and he just shook—I didn't even say, "Come in." He came in, and he shook my hand and laughed and he shook the hand of Mr. Normal and laughed and he walked out laughing. And Mr. Normal turned to me and he said, "Isn't it sad, children like that." He couldn't see that Jean Claude was a happy guy. It's a blindness, and it's an inner blindness which is the most difficult to heal.”

Through this process of evaluations and diagnoses and more evaluations and more diagnoses, our eyes are being opened to our own inner blindness and we are seeing the world in a new light through the eyes of our baby Mae. Though in some ways we are grieving the loss of what society has taught us is a “good life” (academic achievement, well-paid work, marriage, kids, repeat), there is nothing to be sad about. Mae smiles more than anyone I know and she loves to be close to the people that love her. She is a curious toddler who is exploring the world around her and taking it in with all of her senses. She is truly “fearfully and wonderfully made” and, I have a feeling, will teach us more about God than we can even comprehend.

So, our lives right now are full. Full of doctors appointments and waiting rooms, therapies and new rhythms. But also full of lessons of love, sacrifice, and vulnerability. We will use this blog to update anyone who is interested in following along. Please keep us all in your thoughts and prayers as we approach May 27^th. We have had to lean into our community a lot this past year and we appreciate the support and kind gestures we have received. Thanks for all the love!

“For you created my inmost being; you knit me together in my mother’s womb I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well.” Psalm 139: 13-14