Author: Kara

Those of you who know me know that I am a very patriotic person and generally love all things “Murrica”. Then the blog name likely made sense to you, until you saw black and white zebra stripes where red and white should’ve been. So you might be wondering “what is with the zebra stripes?”- Well, let me explain!

As I have mentioned before, congenital disorders of glycosylation, or CDG, is classified as a rare disease. And believe it or not, there are actually more than 7,000 unique rare diseases that exist in the world at this time! If you would like to learn more about CDG or any other rare diseases, this is a really great, and reliable resource: https://rarediseases.org

Now on to the zebra: The zebra is the official symbol of rare diseases in the United States and is noted for its black and white stripes, which are central to its uniqueness. As you, or maybe a child of yours, might know- no two zebras have the same stripe pattern. So like zebras share their black and white stripes, those with rare diseases share many commonalities, but have their own unique traits.

Rare Disease Day is always the last day of February, and this year was extra special as it was Leap Year AND Blaise and I were at the Rare Disease Conference in San Diego! Thought I would share this cute picture of Blaise “showing his stripes” this year!

At the end of 2019, we had concern that Blaise wasn’t hitting motor milestones- like sitting independently or pulling to stand. After many phone calls and lots of prayers, we finally got Blaise an appointment at UNC in mid-January. The rest is HIS-story and it goes something like this:

We met with a physician at UNC’s diagnostics clinic, who told us he felt Blaise had mild hypotonia (weak muscles), and then referred us to a pediatric neurologist for further work up. Between these visits, we learned that Blaise had slightly elevated liver enzymes (AST/ALT). Talk about some unsettling news, but I remained optimistic since everything else seemed to check out.

After the neurologist’s visit, Blaise was ordered to have an onslaught of blood work done for a variety of genetic and metabolic disorders. As we were waiting for the bulk of the results to come back, my husband and I looked up every disorder on the after visit summary to see if any of them sounded like Blaise. None of them did, he just didn’t seem to present the way many of the genetic disorders usually present. So we continued to wait and see what would come after all of the test results came back.

Blaise was also ordered to have an echocardiogram, and abdominal ultrasound (to evaluate his liver), and an MRI of the brain. For those who may not know, MRIs for infants are usually sedated because children cannot stay still for the duration of an MRI. Blaise was also sent for physical therapy and occupational therapy evaluations to start working on strengthening his muscles.

The neurologist told me that he wouldn’t call me unless an abnormal result came back. Fast forward to January 28, when I got a call in the middle of the day from a UNC number. I had been getting calls from them daily as we worked to schedule all of these appointments and procedures for Blaise. But this time, my heart sank as I heard the neurologist’s voice on the other end of the line. He explained to me that a test looking at carbohydrate deficient transferrin had come back abnormal. He explained that this could mean that Blaise had what is called congenital disorder of glycosylation, but that we would need a diagnostic test to confirm. I had never in all of my training in pharmacy school or residency heard of congenital disorder of glycosylation, or CDG. I was optimistic that it was a metabolic disease because it might be something that could be cured somehow. The neurologist explained he would be referring me to a geneticist for further work up.

So naturally I got off of the phone and started googling CDG. And man- it was not at all the treatable metabolic disorder that I was hoping for. It is a rare disease that less than 250 people in the United States have and less than 1,000 people worldwide. But one thing that it was- the symptom profile seemed to match how Blaise was presenting to a “T”. Blaise did have developmental delay, motor delay, hypotonia, esotropia (crossing eyes) and a very happy disposition. I had not noticed he had little fat pads right above his bum, or inverted nipples, but after reading about these as common features- I realized he had them too. Even though the transferrin test was not supposed to be diagnostic, it certainly felt that way- because these websites explaining CDG were describing my son, my baby.

We met with the geneticist who said she felt the diagnosis was 99.9% likely, based on his presentation and the transferrin results. We talked about CDG, and what would come next for Blaise. We did send off the diagnostic test, which came back several weeks later giving him a firm diagnosis of PMM2-CDG (if you want to learn more, here is a brief video about his subtype https://youtu.be/WI8-ZKWgAcU ). Currently there is no treatment or cure for his subtype of CDG, other than supportive therapies.

So now that we know, what’s next? Well, we make sure Blaise continues to get the therapies he needs to make progress and to get stronger. We will set up an appointment for him to be seen in a clinic that specializes in CDG so that we will be in the know for future treatments or trials. We will work to enroll him in some “natural history” studies that are being done specifically looking at CDG to get a database of information on this disease that can hopefully be used to find a treatment, or even better, a cure. We do not know right now what Blaise’s limitations will be long term. All I know is that a wise man that I have the honor of knowing personally, he lives his life by the mantra “Nothing is Impossible with God”. That is how we will choose to live our lives, too.