In another world...
Today is Adelaide’s 10th birthday. In another world she is healthy and in fourth grade. Maybe she loves to sing or play soccer. Maybe she would still have discovered Frank Sinatra or, perhaps, with a typical functioning processing system, she is a huge rock fan. I was never fully convinced she liked all the pink and florals I dressed her in anyway and could totally picture her in a tutu and combat boots.
In my heart though she is eternally almost four. Forever snuggling into us and fighting to get her thumb in her mouth with a blonde ponytail sprouting out the top of her head. She is pretending to be asleep so she can get out of her therapies or crying out in protest when she is being forced to bathe. She is still holding on to my finger, making sure I don’t leave her side until she falls asleep.
These milestones are always bizarre because she’s ten, but she’s not. I have to acknowledge that it’s been six years without her, but how is that possible? I look at Anessa and realize that in a few weeks she will have been living with us longer than Adelaide did, but woah. Years ago, I learned to let go of time’s linear hold on these anniversaries. Time doesn’t take into consideration the meaningfulness of a life or the impact of a year. Time, as we see it, follows a straight line. Love does not.
Still, this milestone birthday feels special, or rather I want to make it special – I need it to be special. 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.
The Undiagnosed Diseases Network (UDN) is a collective of scientists at universities across the country who meet with ultra rare disease patients and try to help them find a diagnosis. These are the patients who have already seen several doctors, done all the tests including some genetics and still don’t have an underlying cause. These patients are treating symptoms but have no hope for a cure or an end to their disease because they don’t even know what is causing it all.
Adelaide was admitted into the UDN in 2017. We visited the site at Duke University where they did a full work-up including whole genome sequencing but no variants of known significance was discovered. However, the folks at the UDN promised to keep looking for answers. When Adelaide passed away in 2019, we donated her brain to the UDN to help with their continued search for answers. We finally got them several years ago when a tissue from her brain sample was used in a study being done out of McGill University in Canada.
Dennd5a was our most likely culprit. This gene is responsible for the formation of certain proteins in the brain in utero and hers was broken. There was never anything we could have done to help her. The damage or lack of development had been done before she ever took her first breath.
Had we had this information during Adelaide’s life, I can think of several procedures we would not have put her through. However, even now this information is valuable. Adelaide inherited the variant in this gene from Miguel and I, meaning that if we were ever planning on having more children (we are not), there is a 25% chance that one of our children would also have this variant. This was also information that my brother was able to take to a geneticist when he and his wife were pregnant and someday, should Jackson decide to have children, he will need to do this as well since we already know he carries one of our broken genes.
The road to a diagnosis can be long and frustrating, but it shouldn’t have to be. So today, in honor of Adelaide’s 10th birthday, please consider making a donation to the Undiagnosed Diseases Network Foundation, the non-profit organization that advocates for continued UDN funding by the NIH (no small task – especially in these times), and helps support undiagnosed individuals and families as they navigate their own diagnostic odysseys. Give $10, $100, $1000 or anything in between or beyond.
As I’ve said countless times, I do not believe that things happen for a reason, but I do believe that we can make reason out of the things that happen. Please help me make reason out of Adelaide’s 10th birthday by supporting our undiagnosed friends across this country.
You can donate to the fundraiser here.
You can learn more about the UDNF here.
You can learn more about the UDN including how to apply to be a participant here.
P.S. Don’t worry, we still support CURE Epilepsy, but for this specific fundraiser we are focusing on the UDNF.
Photo Credit: Lori Sapio Photography
Photo ID: Adelaide is three years old and wearing a light pink shirt with a sparkly cupcake on it, and a tutu. Her hair is pulled up in a ponytail and you can see a colorful bow in her hair. Jackson (six years old) is leaning over from behind her to kiss her cheek. He is wearing a light blue shirt.
