Hereditary Spastic Paraplegia

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Hereditary Spastic Paraplegia
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    Community Voices

    Reflecting on Life

    <p>Reflecting on Life</p>
    3 people are talking about this
    Community Voices

    Letting go of your past & future identity

    I'm losing feeling in my legs, a little more every day. Along with that, I feel like I'm losing a little more of the dream of the life I delayed to be a responsible parent. I'm having a hard time letting go of those dreams, and the life I took for granted before my diagnosis, without going into a full-on "F the world" depression.

    I know that life throws curve balls at us all every day. I've made it this far, but my perspective seems different now. I used to wake up with a clear head, and a bright outlook on what the I can do in the world, and what the world may reveal to me, but now I feel like it will just get darker every day from here on out.

    I've been trying to see things now, rather than recreate a vivid vision of a future that could easily be taken from me, but now sucks too.

    I know that's a judgement, but nothing takes your masculinity more than having to ask your children for help after falling down in the street. My identity as a strong, self sufficient father to a patient who needs ongoing care.

    I'll take it one day at a time, but this is tough. #HereditarySpasticParaplegia #Depression

    4 people are talking about this
    Community Voices

    Knowing the unknown

    Today as I wake up, I realize again that my body doesn’t like me. Diagnosed as a child with cerebral palsy, 39 years later to be diagnosed with heredity spastic paraplegia, but waiting on the type. Doctor said it may be an unknown type because my symptoms are so rare. Then fighting chronic fatigue, leaky gut, migraines, Hashimoto’s disease a whole host of other issues, it’s disturbing not to know what’s wrong. I am doing my own research, trying to find an answer myself. It sucks when you don’t know. It’s like the monster from the deep. A faceless creature that is making life go from walking to being in a chair full time in rapid fashion of 3 years. #ChronicIllness #ChronicFatigueSyndromeampME #HereditarySpasticParaplegia #HashimotosThyroiditis #ChronicPain #UnknownIllness #CerebralPalsy #LeakyGut #Anxiety #Wheelchair

    6 people are talking about this
    Community Voices

    Rare Neuro-motor disease #HSP

    I have Hereditary Spastic Paraplegia which means that most people just think I walk funny. This disease causes severe spasticity in my lower limbs that it is so difficult to bend my knees & lift my feet to just walk, that I fall frequently. Because of how much I fall, how much I hurt every day, & the fact that medicine I take to help me move, also makes me very sleepy. I have a masters degree & taught in the elementary grades until my disability caused me to take an early retirement. Most of the time I’m very bored & just watch tv & play games on my iPad. #HereditarySpasticParaplegia

    3 people are talking about this
    Community Voices

    Has anyone had a baclofen pump surgery? I’m having it soon to control my muscle spasms, and I’d like to know what to expect.

    I have hereditary spastic paraplegia and it’s now become necessary to have the baclofen pump implanted.

    4 people are talking about this
    Kasey Edwards

    Parenting a Child With Spastic Parapalegia-47

    I was raised to savor life, to seek out the joy, and to stay focused on the positive. I grew up surrounded by boisterous laughter, a playful roasting of on loved ones, and quick-witted comebacks. It was the only way I knew how to live and fell in love with my husband because he exhibits all of these qualities, and more. I realized, though, that I had never experienced a challenge that would cause  seemingly insurmountable sadness. I had never been truly tested. It is incredibly easy to be positive and optimistic without obstacles. Therefore, I’d often wondered how I would handle an event like this, knowing there was no immediate or predictable closure, no quick-fix. Would I keep my optimism and still smile brightly, radiating a cheerful demeanor? Would humor remain in my life? I did not have to speculate long. After a few months of revering the near perfection of our newborn daughter, Robbie, it soon became clear that our parenting life would have an atypical narrative. We had started to notice  she was experiencing difficulty developing, and failed to reach the average expectations on all aspects of criteria as evaluated by an early intervention program. As she entered her “toddler years” with nary a toddle, we knew a more in-depth look into the origin of her struggles was necessary. About a year after we began our diagnostic journey, after developmental evaluations and brain imaging, we entered the intimidating and awe-inspiring world of genetic testing. After having been tested for over 200 different types of genetic disorders that aligned with her symptoms, we were told Robbie possessed a gene mutation connecting her to only one. Being autosomal recessive (an inherited mutation must come from each parent to be symptomatic), this meant my husband Chris and I were summoned to unceremoniously provide our saliva to confirm or dismiss this finding. Unaware of the specifics beforehand, I steadfastly believed we were going to be informed of a diagnosis that contributed to her brain anomalies and consequential delays, but would remain benign going forward. Robbie would continue to move onward and upward, as she’d shown she was capable of after so much practice, effort, and encouragement. When the genetic counselor mentioned spastic parapalegia-47 (SPG47), there was an anticlimactic silence. One cannot respond dramatically to something of which one is completely unaware. “Uh, what is that?” was the best we came up with. She went on to explain that the children affected were born with low muscle tone, struggled to make milestones, and eventually learned how to walk either independently or with assistance around two or more years of age. Robbie had learned to walk just a few months earlier. She paused. “And then what happens?” I managed, as I choked out a sob. She continued, telling us that soon after their muscles began to tighten, they could  lose the ability to walk, which could be as early as six months after accomplishing that milestone. Of the hour plus we spent in the office talking to the genetic counselor, this is my recollection of what SPG47 would entail: “non-verbal,” “severely intellectually disabled,” “paraplegia or quadriplegia,” “nine people in the world diagnosed,” “blood-related marriages,” and “unreachable in the Middle East.” I could not have been happier leaving that appointment. I distinctly remember chirping to Chris, “Well, I feel good about this. What are the chances that our daughter is the tenth person in the entire world with a disease?” The majority of families affected (three out of four) were inter-familial marriages. This was a no-brainer. Chris countered with, “What are the chances that Robbie shares several of the same symptoms, has the same gene mutation and doesn’t have it?  I think that would be even less likely.” Immediately, I began to crumble. My narrative now had an antagonist. While we waited for our saliva test results, my nemesis became the list of clinical symptoms that, in the interim, could tether Robbie to the SPG47 diagnosis.  Having a history of Googling bordering on obsessive, I put my skills to work. Any medical reference I was unfamiliar with, which was just about all of them, was entered. Some were immediately dismissed, others required further scrutiny, like “mouth: high-arched palate.” Does she have a high-arched palate? Repeated viewings attained by intensive tickle sessions on the bed left Chris and me unsure, leaning towards “it does look a little high.” I needed a base-line. Under the guise of checking for any loose teeth, I asked my 5-year-old son, several times, to look inside his mouth. He said I was weird. Then I read “nose: wide nasal bridge.” I found myself in public analyzing youngsters. I’d try very hard to make it look like I was admiring the adorableness of the tot. But sometimes, when one’s would be similar to Robbie’s, I’d linger too long, my expression frozen, wondering if this toddler was fine and healthy or harboring a genetic abnormality that laid claim to a “wide nasal bridge.” I got some pointed looks. After a long, somber week, I was no closer to overriding the possibility of an SPG47 diagnosis. I seemed to exist in a vacuum where every thought and adult conversation led back to whether or not Robbie could have this ultra-rare neurodegenerative disease. It consumed me. Our house had become devoid of humor and levity. One night, while feigning to watch a show with Chris, but really revisiting “valgosity of the hips” and “genu recurvatum” on my good friend Google, Chris said inexplicably, “You know, if we’re related but, like, five generations ago, I would be OK with that.” I laughed and laughed. I laughed until I cried. Afterwards, I realized the one thing I hadn’t considered in my recent plight: while there were still unknown challenges lurking, they were not mine to face alone. For better or worse, they were our challenges.

    Kasey Edwards

    Choosing Happiness When Facing Hereditary Spastic Paraplegia Type 47

    I was born happy. Growing up, my family was known for our happiness. But when we were told my daughter Robbie has a rare neurodegenerative disorder, hereditary spastic paraplegia type 47, and the nine other known children with this disorder have severe physical and intellectual disabilities, I admitted to my husband that I believed I would never be happy again. I thought my joy in life had been depleted. He quickly told me, with a confidence I thought foolish, that this was not true. To me, it seemed he didn’t grasp the gravity of the situation. It turns out I was wrong, and I have never been so pleased to admit he was right. After a short grieving period, I found myself soaking up every second of delight my children could bring to me. The turning point occurred when I asked myself two questions: Do I want to live a life where I am anxious and terrified daily of a disorder that, being so rare, has been deemed impossible to predict? No. Do I want to spend our time together consumed by the challenges that could come? No. I realized I needed to live for the day I was in. I became determined to see more smiles, happiness, and laughter than tears or disappointment out of my children at the end of every day. It became clear that, regardless of what happens in the future, I want our children to remember their early years as flashbacks of silly dance parties, constructing elaborate costumes from cardboard and decorative tape, indulgent smiles, and sticky hands from a coveted ice-cream treat. I have never more understood the value in counting your blessings. While Robbie’s disease trajectory is unpredictable, we have been told her case is presenting mildly at this point. The support from friends, family, and our amazing team of therapists has been phenomenal. My husband is my rock: consistent in his strength, security, and sense of humor. My son is patient and gentle with Robbie, a kind soul who genuinely enjoys his sister. And then there is Robbie. She is, quite frankly, the essence of joy. Her smile is utterly irresistible, with laughter surprisingly robust for such a quiet little girl. To meet her really is to adore her. It amazes me daily how so much personality can be projected out of a child with so few words and who faces so many challenges. On countless occasions, medical professionals have said her personality will help her go far, and of this I am certain. These are just a few of my many blessings. Since my decision to live for the day and to appreciate the smaller moments, every day has been a good day. There have been sad days and hectic days, busy days and long days. But I have not had a bad day. Every day my daughter shows progress is celebrated. Each milestone is marked with giddiness and elation, a happiness my children relish and, in turn, exude in their daily life. Should the time come when our fears become a reality, I will take a moment to grieve. And then I will re-evaluate what I consider to bring me joy and strive to attain it. In these moments, if my pleasure in life does not come innately, I know I have a choice. And I choose happiness. We want to hear your story. Become a Mighty contributor here . Photo by The Right Click Photography.