Hello everyone! Here is a little update about my health this month! Feel free to ask questions!
♥ October 7th, 2018
(My neck and back)
For the past month or so I have been having horrible pain in my neck and back, I do have scoliosis so I figured the pain was just acting up. As weeks go on it’s been hurting much more, it’s hard to bend down, stand up, move my neck from side to side or up and down. Its concerning because of my EDS so, we got an appointment to be safe and make sure nothing was happening to my neck and spine that we weren’t aware of.
♥ October 8th, 2018
(My neck and back)
I visited the Orthopaedic Spinal surgeon to make sure nothing too serious was going on. They took X-rays of my neck at different angles and really checked it over. Luckily the X-rays of my neck came back normal! The doctor requested that i do physical therapy, start a new medication and, if the pain continues to get another spinal MRI and wants me checked again by a scoliosis specialist.
♥ October 16th, 2018
(Tremors and Spasticity)
My Genetic doctor refered me to the Neurologist to be checked and evaluated. Still having severe tremors and “Spasticity” all over my body (Head to toe), but the worst of it is in my lower extremities and I’m having weakness in my legs. Myoclonus, Spasticity, and Brisk deep tendon reflexes is what he described it as. When he was examining me my legs went CRAZY, looked like I was having a severe convulsions in both of my legs. I had no control over them and couldn’t get them to stop, not to mention i almost kicked the doctor when it happened (Whoops). When this happens it does upset me because I have no clue as to what is happening to me.
At the end of the appointment he put me on a medication to try to help, he also made the decision to test me for “Hereditary spastic paraplegia” (HSP). We are waiting to see my genetic doctor later in the week to gather test she would like done as well.
It affects individuals from diverse ethnic groups with a prevalence ranging from 1 to 10/100,000
Want to know more about HSP? “Hereditary spastic paraplegia”
♥ October 22, 2018
Went to my Genetic doctor for further information and to get her opinion on the testing that the Neurologist requested. Together they agreed to do this Hereditary spastic paraplegia testing panel which includes sequencing and deletion/ duplication analysis of 80 genes associated with HSP.
If this comes back normal, they will likely recommend whole exome sequencing. We will contact my insurance(s) to determine if this testing would be covered.
She talked over it with us and explained what it was and how it works. I will make a post more about it soon!
I will continue to update you all as I get more information!
Thank you all for sticking by me and all the support! I love you all!
~Stay Beautiful ♥