“It was clear to us that our children did not have random birth defects, but some sort of syndrome.” Parents who advocate for their children, especially those who are members of the “My Beautiful CHILD” community, may be all too familiar with this statement. Being aware and keeping track of your child's physical and development health, noticing differences, and having concerns can be understated necessities to parenting.
As you read this compelling story about Zachary and Grace, beautiful siblings diagnosed with a disabling genetic condition, you will be exposed to the difficult turns the diagnostic process can take and how their family has experienced numerous ups and downs. They overcame those obstacles to uncover their diagnostic footprint and discover how love and hope can shape a perfect family.
After a complicated pregnancy and birth, Zachary was born with an Apgar of 9. He was seemingly a healthy (and certainly happy) baby boy.
But soon he started with what we thought were seizures. I questioned our first pediatrician who determined it was merely a startle reflex, telling me I was a nervous first-time mother. While our hearts hoped he was correct, it turned out it was far more than a startle reflex. After a 9 minute ‘episode’ where he stopped breathing and was ambulanced to the ER, the diagnostic odyssey of our children began.
In the ER, they conducted a spinal tap and CT scan. Zachary was diagnosed with partial agenesis of the corpus callosum. A follow-up EEG proved he was having seizures, and Zachary was diagnosed with epilepsy for which he was started on a cocktail of anti-convulsant medications.
By this time, we were already pregnant with Grace. Similar to my pregnancy with Zachary, the prenatal screen indicated a very high risk for Down syndrome in this pregnancy, however, the results from the amniocentesis were normal. From then on, the pregnancy went smoothly and everything indicated we would have a healthy baby girl. But the moment we laid eyes on Grace, we knew she shared the same mysterious illness as her brother. She soon started to have seizures and feeding difficulties. And, like her brother, Grace began missing developmental milestones and struggled eating.
It was clear to us that our children did not have random birth defects, but some sort of syndrome. So with a toddler who was not “toddling” and a newborn baby, we began to search for answers with various geneticists, hospitals and doctors across the country.
When the kids were 5 and 6, we received their first diagnosis: Batten disease. While we were thrilled to have a diagnosis, we were crushed by the inevitable outcome of the disease. So Zachary and Grace began treatment in an attempt to slow the progression of the disease but noticed no impact. In the hope to learn more about Batten disease and be part of a support group, we attended a Batten disease conference with our children. The moment we laid eyes on the other children present with Batten disease, we knew our kids did not have this disorder. Our emotions were very mixed knowing our now half-decade effort to find a diagnosis would continue but hopeful that whatever they had, would possess a more positive outcome for our two lovely, but sick, children.
But there was a silver lining – the first silver lining in a long string of mis-diagnoses. At the Batten disease conference, we met Dr. Donna Krasnewich from the NIH. Perhaps she saw the look of despair on our faces, or noticed our children’s different features. Either way, she stopped us in the hallway and said she would meet us after that morning's presentation.
And so, we began the last leg of our journey to our official and true diagnosis via the NIH. We traveled to Bethesda where Zachary, Grace, my husband and I had blood work, and the children had skin biopsies. We had our diagnosis within three weeks, CDG type 1D. At that time, it was believed we had the first two children diagnosed with that specific genetic mutation. So we finally had our diagnosis, but it was a disease so obscure that we gleaned only a few jewels of knowledge from the limited literature we could find. In fact, our children have been written up in the medical literature as siblings with different clinical features (Kranz C, Sun L, Eklund EA, Krasnewich D, Casey JR, Freeze HH. CDG-Id in two siblings with partially different phenotypes. Am J Med Genet A. 2007 Jul 1;143A(13):1414-20.)
Obviously, every parent hopes to get a diagnosis that is curable. That was our hope, not our reality. But even with a disease without a cure, the true diagnosis was critical to the ongoing care of our children. Having a diagnosis that is known (and correct) has had tremendous benefits for the quality of life of our children. For example, with CDG -1D there is a particular element of the blood that is very critical for recovery post-surgically or when ill. When their system is stressed, CDG-1D presents with hypo-albuminia. In children with CDG, even slightly low albumin causes third space fluid accumulation which stresses all of their systems. In this state, a mere common cold can land them in the hospital for weeks, yet all they may need is an albumin transfusion (despite an albumin level that may be acceptable in typical children and thus uninvestigated by doctors).
When we were first diagnosed with CDG, there wasn't a physician at Golisano Children's Hospital at Strong Memorial that was versed in CDG. Now there are several physicians familiar with CDG. Moreover, this diagnosis has given us the opportunity to educate ourselves on the disorder and better communicate what is required for our wonderful, but very ill children. We have advocated for important services, including home nursing care, therapy, and proper schooling for both our children. Together with their doctors, nurses, and other caregivers, we learned to think outside of the “typical child box,” which has enriched the quality of the lives of our entire family.
For those unfamiliar with CDG (which is probably just about everyone), these kids are truly remarkable. They have such kind souls, but are the fiercest of fighters. In the case of Zachary and Grace, they persevere against all odds and chose to be here. Zachary and Grace have brought us and our extended family immeasurable joy. It was a scary journey to embark upon (and one for which we did not choose), however, the rewards have been bountiful. Zachary and Grace are so full of life and love. Despite their significant disabilities, they find joy in each day and have an unparalleled desire to thrive. Everyone who meets them is touched by their spirit. They make you thankful for what you have and help us to truly realize we are all made differently, yet still perfect.
We also have a 12-year old typical child, Jayden. He has enriched Zach and Grace’s lives as much as they have his. He is surrounded by 24-hour nursing care, therapists, feeding pumps, oxygen tanks, wheelchairs and more. Zachary and Grace have taught Jayden empathy and love, above all things. He is accepting of all people as a result of being raised with 2 profoundly disabled siblings. The only thing our youngest child is intolerant of is intolerance itself. And this shows on occasion as he is ferociously protective of his “big bro and sis”. When the 5 of us are out and people stare, Jayden says not to worry, they just haven’t seen a perfect family before now. And he is so right. With all of their challenges, Zach and Grace are the embodiment of the human spirit.
Thanks to Kristie Smith, family representative for this blog contribution in support of EGL's My Beautiful CHILD campaign.