Deacon + Drake
February 22, 2018, was the day we thought Deacon’s medical complexities and all the uncertainty that came with had come to an end. A few months prior, we finally decided to pursue whole exome testing, which was performed on the whole family. After 3 years of tests, hospital visits, appointments, and specialists with no results, we had finally received a call from his geneticist that we had an answer! They told us Deacon has a very rare genetic disease called Bainbridge Ropers Syndrome. His condition is pathogenic, meaning disease causing, and the results explained all his challenges. But that wasn’t all—they then told us Drake had the exact same mutation at the exact same spot in the gene sequence, and neither David nor I had it. They also said to expect that neither one of our boys would ever be able to speak, which felt like a punch in the stomach. Though it was a relief to finally have answers, we now had even more questions; the day I thought would finally give us closure was actually the day that started our new journey.
Deacon was born prematurely by an emergency C-section. After only a few days in the NICU, we were sent home with our “small but healthy baby boy.” From day one, Deacon struggled to eat. He couldn’t latch or suck very long without running out of energy. He wasn’t gaining weight or meeting milestones and was diagnosed as failure to thrive. All he did was sleep and he didn’t even have the strength to cry. When Deacon was around 3 months old, he started vomiting after drinking his milk. It started out sporadically and later became more and more frequent. He was still not gaining weight properly and was missing every milestone. The vomiting became so intense and so frequent that he eventually lost interest in eating. At 13 months old, he ended up being hospitalized. They tested Deacon for everything from cystic fibrosis to metabolic diseases. MRIs were done to check for swelling of the brain, and endoscopies and swallow tests were performed. Though we wanted these tests to come back negative, we also wanted answers. After 6 days in one of the top hospitals in the country, they had no answers and sent Deacon home on an NG tube and discharged us with a diagnosis of severe malnutrition. After that, we were, on a rotating basis, visiting seven different specialists, each whom could only give us a temporary fix for the symptom that is related to their field. No one was able to see his body and how it functions as a whole—that was left up to us as the parents.
With proper nutrition, Deacon started to reach more milestones, though he was significantly behind his peers. At 18 months, Deacon was able to stand if he was holding on to something. He started crawling on his hands and knees around 22 months and right before his second birthday he started walking. He was put in orthotics and that helped his stability even more. Today, Deacon is 4.5 years old and is still considered failure to thrive; however, he can walk, run, and—as of a few days ago—he can jump! He had his first bite of his own birthday cake and blew out his own candle at his 4thbirthday. Eating is still a daily struggle for Deacon, but he gets all his nutrition by mouth now. His body is still weaker than his peers, which makes him tire easily and causes frequent falls, but he’s also strong and resilient. Deacon now receives private speech therapy for apraxia of speech four times a week. He is still nonverbal, but can make new sounds, use modified sign language and gestures, and his communication device to try to get his needs and wants met. Even through all his struggles, he always kept a smile on his face. Though now he has more smiles that indicate his mischievous nature, he still always has a smile that can melt your heart.
Deacon and Drake are only one of four known sibling cases of Bainbridge Ropers Syndrome in the world. We were literally told we have a greater chance of being struck by lightning than having two children with this same syndrome, yet here we are. After hearing Drake had the mutation too, we knew it would be hard but thought we were more prepared because we knew what to expect. What we weren’t prepared for was how different their symptoms present despite having the exact same mutation. They both are failure to thrive and have feeding difficulties (in fact, right now we’re working extra hard for Drake’s nutrition to keep him off a feeding tube), sensory issues, muscle tone weakness (hypotonia), lack of speech, and are missing their milestones. Those challenges we were prepared for; but on top of the seven specialists Deacon sees, Drake sees an additional three more. Drake’s sensory needs are more challenging. Until he was about 15 months old, you could only hold him to feed him. Otherwise, he hated to be held, he couldn’t track objects with his eyes, he cried all the time, and he banged his head vigorously against objects.
At 20 months old, I can now hold him, and he looks at me, smiles, and even laughs. Developmentally, he is at a 6-month level. At 18 months, he was able to sit unsupported and can now sit for about 20 minutes on his own. He can roll over, but he can’t crawl, nor put weight down through his feet to even be close to standing on his own. We know he will walk one day, but realistically we know it won’t be any time soon. Drake does babble and can say Da Da! He gets speech therapy once a week and OT/PT once a week. Between both the boys, they receive therapy six times a week, not including specialists’ appointments. We know Deacon still needs OT/PT, but between both boys we literally don’t have enough time or money. For us, speech is one of the most important abilities we want them to have so we put all our resources into that.
Life can be challenging having two children with a rare disease. Doctor’s already don’t know much about the disease, but because we have experience with two, I hope we are able to help the doctors and our BRS community even more by having double the experience. We still don’t know what the future holds for us, but I know that we are lucky. We get to celebrate twice as much when one of our boys accomplish a new life skill that they worked so hard to achieve. Deacon and Drake love each other so much and I love the way they look at each other. And we know because they will grow up fighting the same battle, it will secure a bond even tighter than we know is possible.