My name is Brittany, and I live with my husband, Robert, and three children in Colorado. My family’s journey into the rare disease community began suddenly and without warning almost nine years ago. We were living on the East Coast and had just given birth to our second child and first son.
Drew was born on a beautiful spring day, May 18, 2011. We welcomed him into our lives with all the love a child could possibly experience. To us he was perfect. However, as the days and weeks progressed, we began to grow concerned about certain things we noticed in his development. We frequently shared these concerns with our pediatrician only to be told that our concerns were invalid and that there was nothing wrong with our son.
Our whole world changed just a few days after his 2 month well child visit when Drew had his first life-threatening seizure. This episode caused him to stop breathing altogether due to the stress on his little body. I performed CPR on him in a desperate attempt to keep him alive until the ambulance could arrive. He was rushed to the emergency room of the local hospital, but once again, our concerns were dismissed and the doctors told us that he must have simply had acid reflux.
Less than a week after being discharged, Drew suffered another seizure again requiring CPR to stay alive until an ambulance could arrive. Unbelievably, and in spite of our adamant insistence to the contrary, doctors continued to believe that acid reflux was the cause. As a result, they kept him overnight only for observation but did not insert an IV, a choice that almost cost him his life. The following morning Drew experienced yet another seizure, but because he didn’t have an IV, there was no way for doctors to administer life-saving medication to quickly control his seizure. It took a team of doctors to resuscitate my son. Finally, the doctors began to listen to our concerns.
What ensued thereafter was three long weeks in the Pediatric ICU involving MRI’s, EEG’s, NG and G tubes, multiple spinal cord taps, countless blood draws and eventually having to be placed on a ventilator to stay alive. Despite all of these efforts, the stress on his little body became too much. Drew passed away on August 27th 2011 at the age of 3 ½ months. He had suffered severe brain atrophy caused by an undiagnosed ultra-rare metabolic disorder. His life lasted for 100 days…2,402 hours and then he was gone.
Nearly two full years after Drew’s death, and after multiple genetic tests and thousands of dollars in testing costs, we finally discovered that our son had been affected by a disorder known as Homocystinuria caused by a Cobalamin defect. However, we still had no way of knowing what sub-type of this disorder had taken his life.
It wasn’t until seven years later in March of 2019 that we were finally given a definitive diagnosis: Homocystinuria with a Cobalamin G defect. We received this knowledge because we gave birth to our fourth child and second son, Grayson, who suffers from the same disorder. As a result of thoughtful doctors who listened to our concerns during pregnancy and thanks to improved technology, immediately upon Grayson’s birth we were included in a research study at Children’s Hospital Colorado that shortened the genetic testing turnaround time from twelve weeks to three days and provided the results that we had sought for so long. Finally we were given answers that could explain why our son had died eight years earlier. These same answers provided a roadmap for how to treat Grayson so his outcome would be better than Drew’s. While we had previous knowledge of a genetic mutation for CblG that I was a recessive carrier for, we were told that the mutation that my husband carries is a novel mutation (which is why earlier testing did not detect it). Dr. Rosenblatt in Canada confirmed the diagnosis just a few months after Grayson was born.
Homocystinuria is a genetic metabolic disorder that causes toxic levels of the amino acid Homocysteine to build up in the blood and urine. When Homocystinuria is caused by a cobalamin defect, the body cannot properly metabolize cobalamin, more commonly known as vitamin b12, leading to elevated levels of Homocysteine and abnormally low levels of Methionine, both of which have serious health implications. Without early treatment, Homocystinuria can cause serious, life threatening issues. Even with treatment, individuals living with this disorder may experience vision problems, seizures, developmental delays, anemia, heart disease or blood clots as well as feeding and growth problems. Early detection and treatment are critical to success in treating this disorder.
Grayson is now a year old and he has endured a weeklong stay in the NICU, an MRI, EEG, regular visits to metabolic specialists, pediatric ophthalmologists and neurologists, weekly blood draws
to check levels of amino acids, daily injections of a specialized form of B12, and three different medications and supplements taken at each meal. While the medication tastes terrible, gives him an upset stomach and causes bad acid reflux, we have had to be creative in how we administer it. We have currently discovered a miracle elixir, Sunny Delight. While the sugary drink has absolutely no nutritional value, it somehow masks the bitter, disgusting taste of the medication. For that we are grateful because it means no tears or meltdowns at meal times…for Grayson or me.
Grayson is now a year old and he has endured a weeklong stay in the NICU, an MRI, EEG, regular visits to metabolic specialists, pediatric ophthalmologists and neurologists, weekly blood draws to check levels of amino acids, daily injections of a specialized form of B12, and three different medications and supplements taken at each meal. While the medication tastes terrible, gives him an upset stomach and causes bad acid reflux, we have had to be creative in how we administer it.
We have currently discovered a miracle elixir, Sunny Delight. While the sugary drink has absolutely no nutritional value, it somehow masks the bitter, disgusting taste of the medication. For that we are grateful because it means no tears or meltdowns at meal times…for Grayson or me.
