All tagged Undiagnosed
Today is Adelaide’s 10th birthday. In another world she is healthy and in fourth grade. This weekend we will have a small birthday party for her as we always do, sing her happy birthday, and release ladybugs. But I wanted to do more. So, in the face of scientific funding cuts at the NIH, I’ve decided to do an online fundraiser for the Undiagnosed Diseases Network Foundation (UDNF) in Adelaide’s name.
This week I’m pivoting from my normal blog style to provide an update on US government funded medical research. With so many eye-catching headlines, there hasn’t been a lot of attention paid to this corner of the government recently – but you should know what’s happening here.
Last year I shared that we found Adelaide’s true diagnosis. Now, additional findings, which Adelaide's tissue and data were a part of, have been published. Learning her diagnosis felt anti-climactic, but this study, even the little bit that I understand, has brought me peace I hadn't imagined.
During high school, I developed a slight obsession with Gilda Radner following a National Forensics League tournament (not dead people, more like competitive speech and acting – obviously only the coolest kids did it). Last week I decided to go back and reread Gilda’s memoir, “It’s Always Something”. I hadn’t read it since high school when it took a stranglehold on me, and I was curious what effect it would have on me now.
Through the marketing of Normal Broken, I’ve had the opportunity to listen, relate, and connect with person after person who is facing their unique grief while craving a sense of community and understanding. One of these people, is Tasha Firoza Faruqui, a pediatrician and mother of three, whose middle child, Soraya, has an unknown neurodegenerative condition with no cure. Today, I ask you to sit in the dark with Tasha, Soraya, and their family. To witness their journey and send them the love and strength they need, as they survive with tears on their faces and laughter in their hearts.
Earlier this year, I received an email from our representative at the Undiagnosed Diseases Network. They had finally received and analyzed the results from the genome testing done on Adelaide’s donated brain. The emotions that ensued took me on an unexpected ride leaving me yearning for the peace I had hoped would come with a diagnosis.
“Our new neighbors are moving in today.” Miguel announced.
“Do they have any kids?” Jackson asked.
“An 8-month-old and a two-year-old.”
“I love babies!”
Jackson has made no secret of his desire to add to our family and it is devastating as his mother, as the child-bearing family member, that I cannot in any simple way give him the one thing he wants more than anything in the world: a sibling.
At some point during puberty most of us develop a little voice in the back of our heads whispering salty negative nothings. Ideally, as we get older we learn to ignore that voice, or at least turn down the volume a bit. Then you hold your child for the first time and it all goes to hell. I’m a fairly confident person and was able to tone out my inner negative voice not long after Jackson was born, but with Adelaide, with a special needs child, I’m not certain the second guessing ever goes away.
A rare diagnosis likely doesn’t come with a cure, and often not even a treatment, but it offers a navigational chart of what a future could look like. It comes with warning signs so you can line up the specialists in advance and a community of families battling the same rough waters. So, when you don’t have a diagnosis, sentences like, “I’m sorry mama, it’s NOT cerebral palsy” can be absolutely and bizarrely heartbreaking. Please welcome fellow warrior mama, Colleen Jendreas @keep_going_owen, to the blog…
Tomorrow is Rare Disease Day and among the many (many) awareness days throughout the year, this has always been one of my favorites. This week I was reminded why: the rare disease community includes some of the most dedicated, supportive and hardest working hustlers you will EVER meet. From patients to caregivers to clinicians- alone we are rare but together we are strong AF.
We only ever wanted to have two children. That was always the plan. A) I had no interest in being outnumbered by my kids and B) while growing a child in your body is an unreal experience, the gas, aches, nausea, swelling and all the rest of it is no joke. When Adelaide was born seemingly healthy, I thanked my uterus for its service and mentally closed up shop. Then life got complicated and we were faced with a whole new set of family planning questions.
In the earliest days of our Google dumpster dives researching Adelaide’s symptoms one word kept coming up: neurodegenerative. According to the dictionary it means: resulting in or characterized by degeneration of the nervous system, especially the neurons in the brain. The most well known neurodegenerative diseases are Parkinson’s and Alzheimer’s: conditions that typically affect adults, and mature adults at that. So why was this word coming up in searches for information about our daughter?
