“‘It’s been 84 years,’ as the famous quote from Titanic goes. Our son Joshua has lived undiagnosed for 5 trying years. When I wrote our article for Love What Matters just over a year and a half ago, our story last left off with us still searching for answers. We had been living with feelings of frustration and exhaustion, and at times we wanted to give up!
We were experiencing judgment from others who had never seen anything like our sweet baby boy before and doctors were hitting dead ends in their attempts to treat him. But through it all, I refused to give up or stop searching, because selfishly I wanted answers. And the chance of possible treatment options for his future was worth all the challenges we endured.
To recap briefly, Joshua, or Joshy to those that know him personally, was born a normal weight. From that moment on, he began growing in both length and weight. Among having some other health concerns and autism. My husband, Chris, and I have two older children and our instincts drove us to continue bringing our concerns up with his doctors. In the course of five years, we took him to countless doctors and specialists in multiple states.
I needed to keep a Google Doc to keep track of them all. Imagine explaining extensive medical history to specialists over and over. Having your baby weighed, evaluated, listing symptoms, and every visit concluding with the doctors not knowing. We began hearing the term ‘Rare Genetic Disorder of Obesity.’ But still had no official title. No solid explanation. Each doctor was essentially guessing on the best treatment options in the situation; treating him based on his symptoms. Joshua being ‘undiagnosed’ became part of our identity!
This journey has been exhausting at times. And we have wanted to give up. Go off and live a quiet life, without sharing his/our story. Hid away where the anxiety is limited. But I have never allowed myself to fully give up because the feeling of a purpose-driven mission was too strong to ignore. The hope that we would at some point, even if it would be many years later, have the answers we were searching for, gave me the strength to continue. My prayer was answered in the winter of 2020 when I was invited to a Zoom meeting with a research group that literally changed our lives.
Consequently, we were invited to take Josh for a research case study. In April of 2020, we excitedly and apprehensively drove 8 hours one way to Marshfield Clinic in Wisconsin. There we had nineteen appointments in four days including lab work, tests, evaluations, and doctor consultation. Each doctor evaluated Josh head to toe, asking questions along the way.
They all offered suggestions for his care, including activities we could perform at home and/or goods his doctors could assist with or order from his home. We were in wonder as light bulb moments after light bulb moments appeared. We are awestruck by what they have brought to our attention. We’d seen a few things about Josh that we hadn’t realized were connected to his illness. He has a wide range of features, from minute specifics like his bodily form to common habits. Finally, based on their areas of expertise, each decided whether Josh fit the requirements for the condition.
The entire visit was cloaked with hope, recognition, and comfort. The very last appointment was with the leading specialist on Bardet Bield Syndrome in the United States (if not, the world). An amazing, soft-spoken man. His presence brought calmness into the room. Looking beside me in slow motion as my husband broke down – tears of thankfulness – we knew we were finally in the right place. This clinic understood our baby boy.
He, the specialist, went through each appointment in detail. Giving an overview of each specialists’ findings. We left that day without a firm conclusion to our journey. We’d need to wait four weeks for genetic results. Floating on the surreal feeling of acceptance and understanding for the first time in Joshua’s life, we posed for a photo in the hospital lobby and said our goodbyes.
During the trip, we learned a great deal we didn’t know before. Having thoughts and feelings that had weighed on us for years validated. The experience of going from five years of always feeling out of place to a sense of belonging in four days, literally still brings me to tears. Whether we left the clinic with a diagnosis or not, we now had a care team for our boy. And an online community that embraced our family in the process.
We didn’t seem exhausted at all thereafter. We were filled with thankfulness as we drove home. Weeks later, I received a call from the main specialist informing me that the genetic results were once again inconclusive, which was both upsetting and somewhat expected. I was shattered. Many emotions are being processed from the four days of our journey and the five years preceding up to it. The stages of grief, as well as PTSD symptoms, are typical among special needs parents. We’d experienced this previously, particularly after a major evaluation or doctor’s appointment. What had happened in the clinic, what needed to be done, what could happen next, and all the emotional difficulties of having a child with a chromosomal disorder were all on my mind.
This journey is often a roller coaster of emotions and can lead to caregivers wanting to give up on their search. A month or more passed when one day I went to grab the mail to find a surprise letter that took me off my guard. I immediately scanned the letter with my phone app and emailed it to his primary care pediatrician, asking, ‘Am I reading what I think I am?’ Literally in shock, after 5 long years- over 1826 days – I was holding a letter that confirmed Joshua, our boy, has Bardet Biedl Syndrome.
While our journey certainly doesn’t end with a diagnosis, Joshua will now be able to receive specialized care. We will travel to the team in Wisconsin once every two years for follow-ups, treatment overview, and case evaluation. My hope is to continue sharing our story to help advocate for Josh and others like him. As the high of research on these disorders is happening around the country and other parts of the world, there has never been a more important time to spread awareness.
There are ten times as many people with Bardet Biedl Syndrome in the world as there are in the United States (just 300!). The more doctors and individuals who are aware of the disorder and seek testing, the more assistance and treatment options will be accessible in the future. I’m ecstatic that telling our story has raised awareness of Josh’s disease and others like it.
I hope that folks who read this will be friendly to others and not judge them based on their appearance. We also hope that by doing so, persons who may be living with a Rare Genetic Disorder of Obesity, or caregivers for someone who is, would be encouraged to speak with their doctor and seek testing.”