Suzannah
Distinguished member
- Joined
- Mar 19, 2014
- Messages
- 132
- Reason
- DX MND
- Diagnosis
- 08/2014
- Country
- Uni
- State
- TEXAS
- City
- Deep in the Heart of
Hi all,
Some of you know me here, but for those of you who don't, I was diagnosed with the UMN Hereditary Spastic Paraplegia at Houston Methodist back in 2014. At the time, I was in my 30s and experiencing a great deal of stiffness in my legs, difficulty walking, and had started falling. I finally went to a neurologist when I suddenly realized I could not lift my feet off the ground even one millimeter to stand on my heels. I was diagnosed on the basis on having global hyperreflexes, clonus, and spastiticy.
However, the next year I went to the NIH to do a study for MNDs and they told me they didn't think I had HSP due to other emerging symptoms, including dystonia in my hands and feets, along with muscle wasting in the same. This set me off on another 5 years of searching for another diagnosis, which included: dopa-responsive dystonia, early onset parkinsons, and "faking it". In 2018, I decided to stop looking for an answer because it just got too hard emotionally.
In February of this year, I got food poisoning, and it totally crashed my system. I lost probably 75 percent of my already impaired ability overnight, which was scary. I decided it was time to start looking again. I've long been aware of the NIH's Undiagnosed program, but always assumed my symptoms weren't "exotic" enough. I decided to apply, though, and made it through the initial round but was turned down after the second review. They suggested some other tests that I could complete to be reconsidered, which I did. And today I received word that I was accepted into the program!
I'm so excited. It's been a long, hard 12 years since all of this started.
I wanted to post here, in part to update the people I know here, but also to be able to add a data point to "sometimes it looks like a motor neuron disorder, enough so that you might even be diagnosed with one, and sometimes, it still ... isn't." I hope to be able to post an update with an actual diagnosis one day!
Suzannah
Some of you know me here, but for those of you who don't, I was diagnosed with the UMN Hereditary Spastic Paraplegia at Houston Methodist back in 2014. At the time, I was in my 30s and experiencing a great deal of stiffness in my legs, difficulty walking, and had started falling. I finally went to a neurologist when I suddenly realized I could not lift my feet off the ground even one millimeter to stand on my heels. I was diagnosed on the basis on having global hyperreflexes, clonus, and spastiticy.
However, the next year I went to the NIH to do a study for MNDs and they told me they didn't think I had HSP due to other emerging symptoms, including dystonia in my hands and feets, along with muscle wasting in the same. This set me off on another 5 years of searching for another diagnosis, which included: dopa-responsive dystonia, early onset parkinsons, and "faking it". In 2018, I decided to stop looking for an answer because it just got too hard emotionally.
In February of this year, I got food poisoning, and it totally crashed my system. I lost probably 75 percent of my already impaired ability overnight, which was scary. I decided it was time to start looking again. I've long been aware of the NIH's Undiagnosed program, but always assumed my symptoms weren't "exotic" enough. I decided to apply, though, and made it through the initial round but was turned down after the second review. They suggested some other tests that I could complete to be reconsidered, which I did. And today I received word that I was accepted into the program!
I'm so excited. It's been a long, hard 12 years since all of this started.
I wanted to post here, in part to update the people I know here, but also to be able to add a data point to "sometimes it looks like a motor neuron disorder, enough so that you might even be diagnosed with one, and sometimes, it still ... isn't." I hope to be able to post an update with an actual diagnosis one day!
Suzannah
