Thursday, February 27, 2020

Ataxia Profiles: This Is Us #26...Ashley Sharp


     For this week's Ataxia Profile, I will feature...and introduce you to Ashley Sharp.



     At the age of...or right around the age of ten-years-old...Ashley was diagnosed with Friedreich's Ataxia (FA). At such a young age...she had no way that she would be able to anticipate how this would shape the rest of her life...and Ashley's parents never talked about it. However, she did have a support system...and experienced an abundance of help at school. Ashley's friends did all manner of things for her...from providing a backpack that she could grab on to for support...to giving her a helping arm to steady herself...and providing piggyback rides from class to class. Her writing also began to suffer from the affects of FA...but her teachers were very gracious...and Ashley has wonderful memories of those early years...which she notes, outweighed the bad.

     Ashley has always been close to her family...but she became tighter with her parents when, sadly and tragically, her brother took his own life. She witnessed the emotional pain and anguish that they went through...and his death changed not just her parents'lives...but also the lives of everyone who knew the family.

     One of the lessons that having Friedreich's Ataxia has shown Ashley about herself...is that she is mentally strong...and being so helps her to push through many obstacles that get in her way! Every day Ashley's thoughts and her physical reality try to drag her down...but she is determined to remain positive. Ashley knows that the only one that can change her thought is herself.

     This is a great message for us...and an example to us. More power to ya...thanks, Ashley!


   
     Thank you, Ashley...thank you for sharing with me a little bit of your story so I could write it...and we could all come to know you a little better.

     And that's another Profile...so until next time my friends...
     Jason

Friday, February 21, 2020

Ataxia Profiles: This Is Us #25... Marie Lefevre



     For this week's Ataxia Profile, we are going to be introduced to Maria Lefevre...and get to know her a little better through reading her story.



     Marie first began to notice physical difficulties at the age of twenty-nine...but had nothing done until she was thirty-nine. At this point, Marie was diagnosed with Multiple Sclerosis...which was changed when she was forty-five to Cerebellar Degeneration.

     Marie looks back on her life before the diagnosis of Ataxia...and realizes that she didn't take the time to appreciate what she had. She had the ability to do whatever she wanted...and everything from working, eating, and everyday simple tasks came mostly without effort, and like so many of us did before these things became an issue...never gave these things a second thought. Marie reflects on her life...and comes to the conclusion that she has been much more appreciative in the last thirty years than she was in the first thirty.

      Marie has volunteered for many places that provide aid...and began the road of service at a Center for MS patients. She also spent some time working as a teacher's assistant in a classroom for children with Autism. Marie decided to study for a career in childcare...but soon realized that this was not a good fit. Instead, she studied adult education, and at forty, she also did course work in community service studies. It took her almost six years to complete because she was doing it all on a part-time basis...but she believes that if a person wants something bad enough they will find a way.

     Marie remains independent. She relies upon herself, and an example of this is her furniture...if it is too heavy to move by herself, she either replaces it with something lighter, puts it on wheels, or sits on the floor and pushes it with her legs (which I have affectively done before). I have also put furniture on a blanket or towel...sat down and pulled the furniture to me, as I have continued to scooch backward a few feet at a time. Anyway, this reinforces Marie's belief...that if you desire to do something bad enough...that you will find a way.

     One of the benefits of pushing furniture with her legs...is that it keeps the legs exercised and strong. Marie was told when she was first diagnosed that she should just go home and sit...that she would most likely be in a wheelchair by the age of forty or fifty at the latest. But at the age of thirty, Marie was not willing to accept that...she felt too young for that. She lives alone and her Ataxia has taught her to depend on herself. Marie has one daughter and four grandchildren.

     Marie also likes to garden...and has served as a volunteer gardener for the last three years. Walking in her own yard has become difficult as of late...so she has either planted trees to hold on to or placed long sticks in the yard that she can grab...with the note that they need to be long enough that she won't fall and stab herself:-) Good idea, Marie...safety first...hahaha. She does not let anything stop her from doing the things she loves and finds fulfillment in...and will often sit down to do her gardening. This gives Marie the motivation to keep moving and a feeling of worth.

     I admire that Marie...because one of the saddest things to me is seeing people easily defeated by Ataxia or other physical challenges. With Ataxia, in particular, I have witnessed too many who use it as an excuse to give up and become more and more dependant...so thank you for your story of encouragement Marie...and giving me the privilege to write it.

     That's another Profile...and until next time friends...
     Jason
   

Thursday, February 13, 2020

Ataxia Profiles: This Is Us #24...Breaunna Hoffman


     Ataxia Profile number twenty-four...and let's get right to it. Today, I am pleased to introduce Breaunna Hoffman to you...


     Breaunna is twenty-three...and lives in Pennsylvania. Her journey began at fifteen when she was diagnosed with Scoliosis...and was told that she would need to undergo surgery. However,  her mother questioned whether or not Scoliosis explained Breaunna's moment of stumbling...which she was experiencing whenever she would initially rise to walk. The doctors confirmed that it would not...and so further testing was done. After a period of several months, a diagnosis of Friedrich Ataxia was given. From that day life changed for Breaunna.

     Up to this point, she had been spending her days like any other average fifteen-year-old...very active. Breaunna played all types of sports...and was very involved in cheer, which was her favorite. She was especially devastated when she had to quit her involvement in that particular enterprise. However, other than the effects of her Scoliosis, and a little bit of the initial staggering when first standing up... she was not yet experiencing any other signs from her early diagnosis of FA. She could not imagine that just eight short years later she would be dependent on a walker.

     But as much as she thought using a walker would be horrible...it turned out that Breaunna grew to appreciate it. Because, she found that her walker gave her freedom...it offers her stability and allows her to go shopping, hang out with friends, and enjoy herself during the time that she spends with family.

     One of the great lessons that Breaunna has learned from having a neuromuscular disorder...is a lesson that is important for us all to hear and pay attention to. The life that she now finds herself in has humbled her. In Breaunna's words...before her diagnosis, she wasn't the loving, caring, and empathetic person that she is today. The reality of FA has caused her to slow down...reflect...and look around. She realizes that everyone has a different story to tell...and there is no room for judgment anymore.

     This is such a true assessment...and definitely my experience as well. This outlook also seems to be a pretty common theme for many...but it can't be stated enough, so thank you Breaunna.

     Breaunna finds raising awareness for FA to be very important and tries to spread knowledge whenever she has an opportunity...be it through social media or participating in a public event...such as the rideATAXIA SoCal at Huntington Beach that she attended. She also went to her first FARA SoCal event in 2018...and went to the FARA/UCLA FA Symposium. Her family and boyfriend work towards bringing awareness to FA as well.

     Breaunna would like to leave us with one piece of advice...which is to reach out to the community. You ARE NOT alone...though it can feel that way when you first receive that diagnosis of a rare neurological disease/disorder. There are more of us than you are initially led to think...so reach out because we are here for you!


     Thank you Breaunna for sharing your story with us. We benefit from each other...and your story is inspirational. Keep sharing and raising awareness...I wish you the best.

     Until next time my friends...
     Jason

Friday, February 7, 2020

Ataxia Profiles: This Is Us #23...Dana Creighton


     For today's Ataxia Profile, I am pleased to introduce Dana Creighton to you.



     In Two-Thousand-and-Six, at the age of Thirty-Three, Dana went to the Athena Diagnostics Lab to undergo a blood draw and genetic workup. She went because Spinocerebellar Ataxia ran through the generations of her family. Her mother had struggled with it...and had passed away at the age of Fifty-Three. She had experienced three of her siblings pass away who had been similarly affected as well...and Dana's mother had always been terrified that she would pass this on to one, or all of her children.

     Dana had been waiting for a long time to find out if this would be the case...so she said "no" to waiting any longer...when it was suggested that she make an appointment to talk with a Genetic Counselor after the results of her blood work came back. She, instead, asked them to immediately call her when the results had come in.

     Dana was working at UNC-Chapel Hill in the Public Health Research Department at the time...and on December twenty-eight of that same year received a call with the news. She had definitively been diagnosed with Spinocerebellar Ataxia Type 2. She remembers feelings of deep sadness...shock, and devastation. She left work early that day...just to spend a few precious hours by herself, and then went to pick up her husband after his twelve-hour shift at the hospital. They spent time crying together.

     I think that in one way or another we can all relate to Dana. The first time we are given the news is a blow...and can be devastating. I remember hearing the words of my diagnosis and feeling numb. I think we all were hoping, at that moment...that the Doctor would look at the results again and be like, "oh you know what, I was looking at the wrong chart...no, you're fine".

     Since that time, Dana has found a passion for working out and getting daily exercise. She sees a Physical Therapist a few times a year and incorporates these exercises into her daily routine. She also rides her Catrike (three-wheeled bike). She feels that there is nothing she can't do...but jokes there are, however, a lot of things that she doesn't do very well! Dana feels that, for her, exercise is a re-calibration of the connection between her mind and body.

      On her journey towards the healing process, Dana has found that regarding her trauma... writing about her innermost feelings has been very therapeutic, both emotionally and spiritually. She also enjoys helping others. Dana loves to support others...but also, is not afraid to ask for help when she needs it. This is one of the lessons she would like to pass on...we are in this together and helping one another is just a part of who we should be.



     Thank you Dana for allowing me to write your story...so that we could all come to know you a little better...and know your story.

     Until next time my friends...
     Jason
     

Friday, January 31, 2020

Ataxia Profiles: This Is Us #22...Amy Hamrick



     I have heard from many of you that these Profiles are very helpful. I am very glad to hear this...and send a thank-you to all that have allowed me to present their stories to you. In the same spirit, this week I would like to introduce you to Amy Hamrick.



     Amy was thirty years old and pregnant with her daughter Hadley when she was first diagnosed with Spinocerebellar Ataxia Type One. The disease runs in her family, but no one really talked or was honest about it until Amy.  Her dad had Ataxia, which he got from his father...and out of four children Amy was the only one to also have SCA 1. Currently, Amy lives in South Georgia with her husband and daughter.

     At the age of thirty-two, Amy decided to have a blood test done...to confirm her status and ensure her eligibility in drug tests, and other trials. This is a good point to make for Genetic testing. People ask why they should bother getting tested...after all, there is no cure...so what does it matter, right? Well, one of the answers is because of possible involvement in trials. Drug companies do work with specific types of Ataxia...and if you have an official diagnosis this avenue is now open for you.

     Amy was a first-grade school teacher and was always commended for her classroom management. She had taught enough years that when the job became too stressful and physically difficult, because of her Ataxia, Amy was able to medically retire. Although she doesn't drive much anymore, she does have a vehicle on hand in case of an emergency. Her husband works an hour away from home...which leaves her home all day by herself, and Amy is still working towards figuring out what this means and which activities are going to be within her abilities.

    One such activity that Amy has discovered is wheelchair yoga...but finds it difficult to be in crowds of people. When asked what she has learned from her disability, Amy said that one thing is that she has given herself permission to mourn and grieve over the abilities that she has lost. Amy also owned a rollator for two years but refused to use it for the first year. On year two she gave in...and one coping mechanism that Amy employed was to give her rollator a name...and she decided it looked like a pink Lilly...so Lilly it became.

     Amy has also learned that with each one of her new symptoms she needs to give herself time to adapt and cope. She says her goodbyes, and then moves on. One of her mottos that she tells herself is to just fake it, till you make it!

     Amy will be participating...along with her siblings, in an Ataxia Walk during the first weekend in October.



     Thank you for sharing your story with us Amy. I learn new things and continue to see the whole of my Ataxia from other angles, or perspectives...with every Profile blog that I write.

     So, until next time friends...
     Jason

     

     

Friday, January 17, 2020

Ataxia Profiles: This Is Us #21...Simone Van Alstine-Jasch


     It's time for another entry in the Ataxia Profile Blog...and for today's, I am happy to introduce you to Simone Van Alstine-Jasch.


     Simone's story begins in nineteen-ninety when she was nineteen and attending The Boston Conservatory of Music, Dance, and Theatre. Simone remembers the exact moment like this...when everything began to change..." one moment I was sitting on the steps outside the building waiting for a friend...and the next I was on the ground after standing up". This incident sent her to the hospital where she spent a week being tested and having numerous blood-draws...only to hear, after all of that, that they didn't know what was wrong with her.

     Simone spent the following three months talking with psychiatrists and psychologists...and finally given the diagnosis of Cerebellar Atrophy. In nineteen-ninety- seven, she was given a more exact neurological explanation...that being Spinocerebellar Ataxia type 2. However, this conclusion was reached by a process of elimination...because, in the late nineties, only tests for types One and Three were available...and she had tested negative for these. In fact, twenty-plus years later Simone applied for consideration in a drug trial for SCA2...and was told that instead, she may have Ataxia Ocular Apraxia.

     Simone is an Air Force housewife and fills her days with housekeeping, reading and writing fiction, watching television, and exercising. She also does some volunteer work for a Hospice...and is greatly aided in this service by her gifts for sympathy and her strong musical talent. She finds great comfort, peace, and strength in the Lord...and, although she has now lost some of her physical abilities...acknowledges that she simply continues to be Simone.

     This is a powerful point that Simone just made...and I want to interject here with a comment on Simone's observation...because I think it is an important one, especially for those who might be struggling to process a new diagnosis in their life. It is quite common to view yourself as two separate people...who I was before (pre-diagnosis), which was normal and happy...and who I am now (post-diagnosis), which is limited and sad. However, this is NOT true. You are the same person now as you were then...with the same gifts as before to offer...life for you now has just become a little more challenging...but you can't let yourself become defeated and give up. You learn lessons that will probably change or strengthen you in different areas...but the physical limitations that come with Ataxia do not fundamentally change who you are.

     Which brings us to the lessons that Simone's disability has taught her...and what she has learned. It has taught Simone patience...it has deepened her ability to laugh at herself...and taught her to not sweat the small stuff. Her advice to others is to concentrate ALWAYS on what you can do, not on what you can't...and to remain positive, even though there are times when this may seem to be hard to do!

   


     Thank you so much for your words, Simone...and thank you for sending me your story so we could all benefit from it and get to know you better.

     That wraps up another Profile Blog...so until next time, God Bless you all my friends.
     Jason

Friday, January 10, 2020

Ataxia Profiles: This Is Us #20...Rosie Ruiz



     Hey, everyone! Time for Ataxia Profile number twenty...wow! Time is going so fast...it's hard for me to believe we are here already. I have very much enjoyed writing every profile and hope to bring you more. Some of you reading this will need to step up and send me your information...I only have eight more profiles available after today's...and for this week's Profile I am happy to introduce you to Rosie Ruiz...



     Rosie was thirty-five when she was diagnosed with SpinoCerebellar Ataxia. For two years numerous blood tests were done...as the doctors sent sample after sample to the lab in an effort to zero in on a specific type. Finally, after all the previous tests had come back negative, a positive result of SCA 8 was found. She remembers feelings of deep sadness at the news of a progressive disease...because she felt she was still quite young and was very active at that time.

     SpinoCerebellar type 8 is a form of Ataxia that is marked by a slower progression. Even so, Rosie...like many...hates the attention that comes when one experiences difficulty walking. She relays that she feels very uncomfortable when people stare because she may jerk when walking, drag her foot, take small steps, or move slowly. Conversations can also be embarrassing for her...as she struggles with crisp diction and hears herself garbling her words.

     Before Ataxia, Rosie worked at a desk job. She worked out regularly at a gym that she loved...and enjoyed going on nature hikes or long walks in the city. She still works and drives...although, Rosie notes that before the diagnosis she had better dexterity and loved to drive a stick...but now has transitioned to driving an automatic. She also notes a difference in the way she approaches public and social places. Before, Rosie was very energetic and loved meeting new people...but now she has become very apprehensive. She also quit the gym that she loved...for a preference that she now has to work-out alone.

     Activities that Rosie finds to be helpful include working in her garden...which gets her outside...and spending time on her treadmill...which is helpful for her stiff leg and gives her time to enjoy her favorite Podcast.

     When asked what her disability has taught her...Rosie's response was an important one for all of us to hear...because she let this progressive, non-curable neurological disease develop a much deeper sense of humility and empathy in her life. This journey has been a growing experience for her...as she learned that she now has an opportunity to reach people...just by accepting herself and being who she is.

     She would like people to know...especially those who are trying to come to terms with a new diagnosis in their lives...that life with a disability is not the end. Life is different...but it is not over.
Thank you for those words, Rosie...I personally, can testify that in my life and experiences I can see this disease as opening doors for me, providing opportunities, and giving me insights about myself and others...that I would not have realized any other way.



     Thank you, Rosie...for sharing yourself with us, as we all deal with this neurological disease and seek to learn from the lives of others.

     God Bless you all, my friends. Until next time...
     Jason