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To the Doctor Who Helped Diagnose My Son's Rare Syndrome

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Dear doctor,

Thank you. I know I can’t say thank you enough, but thank you. You were there for us during our darkest of days. Advocating for us. Cheering for us. From day one, you have always been there for us.

Doctors take a vow to take care of their patients, but you went above and beyond that promise. You ensured that our son Jaxson received all of the help that he needed. You had us come in two days after being discharged to ensure that he was doing OK. You wanted to make sure he was eating enough. I’m so glad that you did. I wasn’t aware at the time that he couldn’t suck and swallow well at all. He had lost a whole pound.

You had us come in weekly for weight checks, and scolded the corpsman when they didn’t weigh him without his diaper – because at that age, every ounce counts.

We were admitted to the children’s hospital out in town because of you. You were adamant that they admit us and find out why Jaxson wasn’t thriving. We continued to have weekly weight checks until Jaxson was about 5 or 6 months old – when he really started thriving.

Some may think all of this was excessive, but you did everything in your power to make sure that our warrior had a fighting chance.

You were the one who dotted his i’s and crossed his t’s. You sent us out for every referral imaginable: ear, nose and throat, physical therapy, feeding therapy, occupational therapy, genetics, pulmonary, gastroenterology, sleep specialist and more. It was you who diagnosed our son with laryngomalacia – not another specialist. I was able to find support with the laryngomalacia community before finally receiving the official diagnosis from the specialist. I thank you for that; it gave me answers and a peace of mind – peace of mind that it wasn’t “all in my head.” With your diligence, Jaxson started to roll. He started to crawl. He started to thrive.

Oh, how he started to thrive.

Your persistence and care also led to us discovering his diagnosis: DYRK1A syndrome. Some had to wait years and years, but with your tenacity, we found it much sooner than that. Now we can continue to get all of the help our warrior needs to be all he can be in this world.

Fast forward to today, we are now in North Carolina with a new team of doctors. I hope they will have the same drive and compassion as you. I can’t thank you enough for all of your help, your due diligence, and your hope for us. Thank you from the bottom of our hearts. I will never forget your kindness and determination.

Originally published: February 13, 2019
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