Brianna’s Story – Hereditary Spastic Paraplegia

Life has a way of being unpredictable.   It would be wonderful if we could always choose the road we want to go down, but sometimes it is chosen for you.  Thus was the case when my daughter was diagnosed with Hereditary Spastic Paraplegia, a rare disease that robs a person of their ability to walk.  The direction our family was heading in was suddenly and irrevocably changed forever.

001Brianna was born five years ago today and for the first year of her life, she was a “normal” baby –cute and happy, hitting all of her milestones on time.  As I look back now, I am so grateful for that year.  We had one precious year where we didn’t have to live in the land of doctors’ visits & medical tests, diagnoses & misdiagnoses, internet research, seeking answers to questions I never thought I would have to ask.  Ignorance can be bliss, and we were blissfully ignorant that anything was wrong that first year.  Yet it soon became obvious that ignorance would no longer work for us.  We started to suspect something was wrong around her 1st birthday as she always stood on her toes and never was able to stand independently, cruising and walking were nowhere to be seen.

So at the age of 15 months we had our first visit with an orthopedic surgeon who told us 20121104-A43E5454just to wait it out and come back at 2 years of age.  Yeah right!  When you know there is something wrong with your child the last thing you want to do is wait around.  While we did pass some time, we ended up seeking a second opinion before then.  MRI’s of her brain and spine came back normal, yet 3 days after her 2nd birthday she was diagnosed with cerebral palsy and we were told that our daughter would never walk normally, if at all.  When we questioned this doctor about the CP diagnosis, he said “If it walks like a duck and quacks like a duck, then it’s probably a duck.” and sent us on our way.

Cerebral Palsy. She will never walk normally, if at all. These words seared through my brain, my heart was simply in agony.  For while I knew there was something wrong with Brianna, I had mommy blinders on and I hoped that there could be something done to fix it, to make it better.  Yet this doctor told us there was nothing to be done – no cure, no medicine that she could take to alleviate her symptoms, no surgery to make it go away.

We found the cerebral palsy clinic at the Children’s Hospital in Columbus, Ohio and she was scheduled in for a battery of tests by an array of doctors and therapists. Except for the obvious gross motor issues, she passed everything with flying colors.

Cerebral palsy didn’t really make sense to me.   I had a healthy pregnancy and other than20111228-IMG_0475 a scheduled C-section due to breech presentation, the delivery was uneventful.  In that first year there was no indication that anything was wrong. While I may be biased, Brianna really is a smart little kiddo.  A brain injury just didn’t seem to fit the bill, especially since the MRI of her brain was clean. (Although the doctor that made the initial CP diagnosis explained that the injury could’ve occurred early in pregnancy, and that the brain would’ve developed around the injured area making it invisible to the MRI).  Fortunately the lead doctor at the CP clinic was open to exploring other possibilities and ordered some more tests.  Seven weeks later we received information that she had a mutation on a gene that is responsible for a disease called hereditary spastic paraplegia (HSP).  Although we had the answer in our hands, it was still several more months before it became definitive.

HSP is an umbrella for almost 30 different genes, yet the hallmark of the condition is progressive weakness and spasticity in the lower extremities.  The most common gene mutation is SPG4, which typically strikes people later in life.  Brianna has a mutation on the SPG3A gene (also known as ATL1), which is the early onset version and it is also a dominantly inherited disorder.  Yet neither my husband nor I showed any symptoms and there wasn’t any history in either family.

We visited Dr. Craig Blackstone at the National Institutes of Health, where our genes were tested.  We found out that neither of us has the mutation, it turns out that it is simply a spontaneous mutation in Brianna (hey, they have to start somewhere).  Also, he contacted a scientist at Harvard who had recently completely a 3-dimensional model of the protein Atlastin, the protein which SPG3A codes for, and the location of her mutation indicated that it would affect the function of the protein.  So armed with this new data, we were able to confidently move forward with the HSP diagnosis.

In some small way, I am grateful for the misdiagnosis of cerebral palsy.  It was truly a tramatic time for my husband and me.  Every parent wants the best for their child.  A vision of their life takes hold in your mind from the moment you find out you are going to have a child.  Then to be told that your baby will be disabled for life, before she has been even given a chance at it, is devastating.  It is said that there are 5 stages of grief (denial, anger, bargaining, depression, & acceptance), something that is typically experienced when you lose someone you love. When you have a child with special needs, parents often go through those same 5 stages as they mourn the loss of the life they had envisioned for their child.  And right after she was diagnosed with CP, we were definitely in mourning. We were coming to terms with the idea of cerebral palsy and working through our grief, when 7 weeks later we learned that HSP was the cause of my daughters problem, not cerebral palsy.

Truth be told, I was relieved when I learned this for I was suddenly filled with hope.  Hope that a cure could be found because now the exact location of the problem was known:  the DNA variant, the nucleotide position, the codon.  Fix this and you can fix the problem.  While I understand splicing away at genes is not necessarily something we are close to doing, nor is this the likely solution to the problem, we at least know where the problem lies, and this is the first step to finding an answer.  And this gives me hope, which is priceless.  I was able to start moving forward. We had our new direction.
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Currently there is some basic science research going on with regards to cell biology and proteins affected by HSP, but there is no cure and no real treatment available.  Botox injections as well as some muscle relaxing drugs (baclofen), offer some relief. Physical therapy can help strengthen muscles and orthotics can offer some stability.  But in reality there isn’t much out there to help Brianna and others affected by HSP.

It has been 3 years since her diagnosis and for the most part she is doing well.  About a year and a half ago, she started to walk short distances independently (see video below). She falls constantly, but the wonderful thing about children is that they get back up and just keep trying.  Yet it is heartbreaking when she says that she wishes she didn’t have this problem with her legs.  Or when she has friends over to play and they are literally running circles around her, and she says to you in tears that she wishes she could run too.  It is awful to feel helpless as a parent, I just want to fix it for her but it isn’t that simple.  Yet I have hope that a cure can be found, or at least better treatments to lessen the severity of this condition.

And so this road I never thought I would be on has taken me to new worlds.  I started taking classes at my local Jazzercise center the day after her HSP diagnosis, at the time I didn’t know if I had this disease as well and I wanted to move while I could.  It gave me a deep appreciation for so many basic things we take for granted every day.  Jazzercise became a lifesaver for me and last year I became certified as an instructor.  Last June, my husband joined the board of directors for the Spastic Paraplegia Foundation.  And now my brother Jack is running in the Boston Marathon with Brianna as his patient partner.   This is his first marathon and needless to say, I am so proud of him!  It warms my heart to feel his support in helping Brianna.  And I am inspired by all those that are running in this marathon to support rare diseases. Together we are strong. Thank you for your commitment and dedication!

Posted in Patient Stories
79 comments on “Brianna’s Story – Hereditary Spastic Paraplegia
  1. Lisa Prior says:

    Touching, inspiring; a wonderful portrait of an insightful mother and her persistent, precocious child. Love you both!

    • I feel so sorry for your daughter, but yet so inspired by watching her.I had this disease when I was in my early forties, but she is just starting her sweet, precious life, now I`m 53 years of age. I have been going to so many doctors, but they won`t tell you they can`t help you, they will just take your money, and drain whatever is left in you! All my brother have this disease except 1 brother, my oldest brother, he is 63 years old. He couldn`t believe what was going on with us siblings, he just didn`t want to believe it till he seen us, at my other brother wake.
      I just wanted to say hello, and be strong for your daughter, be there every moment for her, love her and cherish her. I hoping for some kind of surgery to help us all.
      Thank You,
      Donald

      • franco Gargaro says:

        Hi All,
        The little girl is not only brave but an inspiration.

        I have not yet been diagnosed after 3 years but a specialist suspects HSP.
        This illness started when i was 47…i am 50 now.
        There is no history of HSP in my family going back 7 generations.
        My symptoms started with a tight calf muscle in my right leg that led to loss of balance and coordination.
        After a month or so the symptoms pass also to the left side of my body.
        I then developed heaviness in my legs and had shocks from my feet up to my knees with some twitching in lower limbs and upper parts also…my gait feels very tight and blocked though i have never suffered from any bowel problems.
        My muscles are toned and there is no muscle waste although i do have strength loss where i can not even move unaided.
        For the 3 years living with this illness has stopped me gradually from walking and i can no longer work.
        All testing over 3 years are normal.
        Can anyone out there give me a clue to what i have or may have as i find the doctors and specialists so far not helpful.
        Any help with any information would be welcome.

        God bless you all…and keep faith.

        franco Gargaro

      • Rose Holtman says:

        Hi, I’m the oldest of six children and have two bothers and my only sister that suffer from HSP. My mother passed away at the young age of 72 from complications of HSP. My mother has a sister and brother that have the disease as well. My Uncle Has a daughter and granddaughter with the disease. My sister has a son with the disease and my Aunt has two daughters and a grandson with the disease. I was blessed with two children and 9 grandchildren and none show signs of HSP. It’s such a horrible heart wrenching disease, it leaves me feeling helpless. My mom passed a year ago and I cared for her for two years after moving her and my dad in with me. There was nothing Drs could do and there isn’t a cure as of yet.
        My heart hoes out to this little girl.

      • Ashley says:

        Hi I have hereditary spastic parapersis I was 16 years old when I got it I’m now 27 years I was only found out in 2013 what I had at first they thought I had a muscle wasting disease but ĺuckly I don’t my hospital in UK where I’m from they haven’t discovered the gene I have so it’s rare

  2. Meghan Harris says:

    What a little fighter Brianna is! Loved her comment,
    “This is so exciting, isn’t it?!!”
    I didn’t realize the extent of her battle.
    She is amazing!!
    Love to you all.

  3. Tim Eding says:

    What an inspiration. I am 56 years old and have been “blessed” (my chosen terminology) with HSP for 10 years now. My heart breaks for your daughter and yet because of the tremendous support she has in a wonderful mother and father she will be an overcomer. Thank you for sharing your story and your daughter’s story. I have had a baclofen pump now since 2010, and though I have had some unfortunate issues with the pump, I believe that it is THE reason I am able to walk with a cane. You all will be in my prayers.

  4. DanW says:

    Amazing, thanks for sharing!

  5. Diane T says:

    Your little girl is absolutelty precious! She is beautiful inside and outside. I too have HSP and am 57, with a diagnosis in 2004. Doctors say when one exhibits symptoms at an early age, the disorder doesn’t progress as it would in older people. I hope this is true for your daughter and she can live her life to the fullest.

    • Daniel says:

      There is a some truth to that, however I am now 30 and can’t run like I used to be able to when I was 10. I can’t even think about walking in an open area without stuff to lean on, like walls or furniture. Well I can think about it, but it ain’t happening.

  6. Sabrina says:

    I understand your pain, and fear. I have been diagnosed with HSP myself, my mother was the carrier. Unfortunately, they already told me that there is a 50/50 chance of any children I have of having it as well, and they will be carriers even if they don’t have it. While I was pregnant, my biggest fear was having a child with my physical problems. I cannot run myself, I use to be able to when I was a young child. I really do understand what your daughter is going through, and I hope for a cure as well. The only piece of advice that I can give, is to be patient with the her and the HSP. She is going to need her mother while she goes through this. That will never change.

    • Karabo says:

      Hi Sabrina,

      I am 29 years old and I also have HSP. My husband and I are trying to have a baby. I would like to know what your pregnancy was like. Did HSP make it more difficult to conceive and give birth? My email is kmolyneaux@law.capital.edu

      I have been looking everywhere for some answers. Any information would be very helpful and ease my mind. Thank you

  7. I arrived on your website and story because I was looking for any recent research on HSP. My client a 53 year old female has HSP. I am her personal training and train her once a week to help her maintain strength, balance and joint stability. Once or twice a week she exercises on her own. her goal is to stay out of a wheel chair as long as possible by maintaining he functional health as long as possible. She has improved in strength and feels more able, however the long-term prognosis is loss of her lower body function which we want to slow down as much a possible with targeted exercise. I also need to adapt to her physical changes and need over time and would like to connect with others who may do the same I do.

    • Hi Jacqueline,

      Check out the Spastic Paraplegia Foundation’s website (www.sp-foundation.org) for more info. There are also two active Facebook groups that can help you can answer day to day questions about HSP and how best to stay active.

      Good luck with your client.

      Regards,
      Allen
      SPF Board of Directors

    • Carol Morris says:

      We suspect my daughter has HSP. She is 38 and unable to run, jump, stumbles frequently, numbness in left leg noted recently. Had 2 MRI, EMG tests and a spinal tap but still no definite diagnosis. Her gait is stiff also. We suspected MS but neurol0gist says no. Will be going to Duke Univ in July for another opinion, In meantime, I feel physical therapy would help her. What exercises in particular are recommended for strength, balance and joint stability? She has access to WMCA and their facilities.

  8. I was diagnosis with heritary spastic pareligia

  9. Elizabeth Marin says:

    She is fast on the walker. I suggest have her put in ankle foot orthotics. They will hold her feet correctly on the ground and walk more easily.

  10. Lisa says:

    What a precious little girl!! We could all learn something from Brianna. Her spirit is very inspiring.

  11. Olivia Conforti says:

    Two years ago I was diagnosed with HSP and I started to show signs and symptoms of it when I was around 10 years old. I am now 17. I have tried many different methods to try to slow the progression of the disease (or reverse it) such as physical therapy, Baclofen, and I even went to more holistic methods. Currently I am in a practice called the Feldenkrais Method which is a series of gentle lessons that help improve movement. From when I first started I immediately felt improvement. Though it does not cure the disease, it teaches the body new and comfortable ways to move. With this disease, I lost my ability to run, and it is getting more difficult to walk, but since I started with Feldenkrais my movement has improved and for the first time in 6 years I occasionally can run a very short distance in spurts, and I am still improving. Although I am not getting back to “normal”, my body is adapting it’s movements. Do not give up hope as I am not, and stay strong. Brianna is going to have an amazing and fulfilling life, and I know this disease will not slow her down.

    • Carol Morris says:

      What is the Feldenkrais method. Can you e mail more information?

    • Belinda says:

      Good evening my son is 20 and was diagnosed with Hsp 4 years ago.please send me some more info on the falkedens methods I’m relly interested it might help my son as well.

  12. Olivia,

    Can you get in touch with me at abernie182@gmail.com or 614-937-2316 to talk about the Feldenkrais Method as well as the possibility of you doing an article for the website and newsletter describing your experience with it?

    Thanks,
    Allen

  13. Mary Vasquez says:

    My husband, Alex, has HSP as do his six older brothers. Alex is 62 and has a very hard time keeping his balance and walking. He refuses to use a cane much less a wheelchair. He does not use any medication, although I would like to discuss the benefit of using what is available such as Baclofen. Alex still works everyday. I also read today about the Feldenkrais Method. I need to learn more about this option please. We have started to exercise to see ifthis will help also. Pleasde advise. Thanks.

  14. Ida Hill says:

    I have a cousin with spastic paraplegia. I would like to know more about Feldenkrais Method to see if it will help him. Please send me some information on this please. Thanks.

  15. EM says:

    I completely understand how you feel. What happened to your daughter is happening right now to ours too. It all started when she started walking at 18 months. We noticed something was wrong and went to our pediatrician (who is also neurologist). She advised exactly the same: just wait and see, but i knew something was wrong, so I decided to go on to another doctor. We went to an orthopeadic surgeon. He immediately saw our daughter had a neurologic problem from the moment she started walking. First thought was CP, but scans and mri are completely normal, also a tumor of the spinal cord was a possibility, but everything came back normal. They even did a punture of the spinal marrow because they were thinking at a certain moment that our daughter had an agressive progressive desease. We felt completely lost. At this moment they are doing research concerning her dna profile (whole exome sequencing). We are already waiting 8 months for the results. It completely drives me crazy sometimes not to know how my daughters future will look like. They are thinking about HSP. At this moment she walks with braces and they are considering botox injections within a couple of months. She is our first child. Due to the possibility of a genetic desease we are afraid to have another child, altough a little brother or sister would be great. Apologies for my awful english, but I absolutely wanted to reply. I searched the internet many times to find someone who went through the same as we are. I wish you and your family all the best!

    .

    • EM,

      First of all, take heart, your daughter is going to be fine. Our daughter is thriving despite her difficulty walking. If your daughter has HSP, that’s all it is, a difficulty — an obstacle to be overcome. Although it feels terrible to know your daughter is starting out life with a pretty significant physical limitation, we are all limited in one way or another. Some of us in many ways far more significant and far less visible than HSP.

      The key is to focus on what can do, not what she can’t. We let and expect our daughter to explore and try and fail just like everyone else. She has surprised us at every turn and rises to meet every challenge. In this, she is no different than any other kid and, in many ways, much stronger than most because of her disability.

      We do not turn away from her disability in an attempt to “normalize” her or make her feel like the other kids. She is who she is and HSP is just one part of that. It does define her anymore than it will it define your daughter.

      Regards,
      Allen

      • Ashley says:

        Don’t get me wrong Allen but having hsp aswell it’s not just a obstacle it’s a major obstacle there’s no cure having hsp is so painful and stressful

  16. Amy Glover says:

    You don’t know how blessed I feel! My daughter, a sweet blonde nine-year-old, was recently diagnosed with HSP 11. We, too, went through the CP diagnosis, a back surgery, and about 10 different sets of orthotics and numerous Botox injections. We are in a good place now with treatment and finally feel like we have a direction. However, our most recent obstacle has been dealing with the social element. The way you described how you felt when you see your daughter with her friends is something I didn’t think anyone else could understand. I recently caught some kids poking fun of her behind her back. Needless to say mama bear came out and I took care of it, however it is so hard and sometimes I feel at a loss on how to make her feel and see that she is so very special. I know God has a plan for her and it’s so much greater than what we can picture. Thank you so much for sharing your journey. Prayers for your sweet Brianna and for you.

    • Karabo says:

      Amy,

      I am 29 and I have been living with HSP since I was 3 yrs old. After long hospital stays, tests and misdiagnosis, I was diagnosed when I was 21 years old. Yes it is painful, stressful and frustrating, but I have learned to listen to my body in order to understand my limits.

      My parents taught me to focus on my strengths. As a result I am living a full life. I use both a cane and a wheelchair. I lived on my own for after college, I am married, I travel on my own and I recently graduated from law school. Anything is possible for your daughter.

      My best advice is that she take advantage of all the resources available to her.
      Vocational rehabilitation agency in your state may cover some or all of her college or technical school costs and help with job placement. They may so pay for installation of hand controls and driving lessons. College and university security guards or personnel may help her carry heavy books or work with her to have an accessible dorm or whatever she needs. Counseling is available to help her talk to someone about her difficulties so she doesn’t get discouraged. Trust me– living with HSP is mentally taxing.

      I am not taking any medication currently because my husband and I are trying to conceive. Massage, rest, chair yoga and acupuncture has helped me. Don’t get discouraged. Everything will be fine.

      Peace and blessings

      Karabo

  17. karyn says:

    My son has HSP and was almost in a wheelchair but last summer we tried a new brace. He is 14 and has made HUGE improvements in walking ever since he started wearing ToeOff braces by Allard. They lift his toes for him and pushed his knees back, stopping his crouch walking and he has only had three falls in the last year. We did PT for four years and now he is doing private yoga lessons. Best of luck to you and your beautiful daughter!

  18. Hande Ersarac says:

    hı my name is hande a am writing from turkey. I need help about hsp. My brother and ı have thıs desease. my brother has some prıblems ın hıs legs . ı have some problems wıth my hands they are shakıng. ın 2005 , we went to mayo clınıc and we learned that my brother has hsp and they said there is no cure about this disedase. In my country so little information about this disease they said no fat use with your food. I am married now and ı want having a baby. noone could gıve me an answer ıf my baby wıll be ill or not could you know anything in the early pregnancy or any test..

    • Hande,

      I’m sorry to hear about your diagnosis. Go to http://www.sp-foundation.org and http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm … these two webpages will give you the best information available about HSP.

      As for no fat in your food: that does nothing to change your condition. Sorry.

      Good luck.
      Allen

    • Melissa says:

      I am so sorry that you have the HSP diagnosis. I have never heard of no fat. I wish I had the answer about having a baby. If you can go see a geneticist, they can answer your question. If I remember my genetics class in college, if you have the disease, but your partner does not have the genes for this disease, then it is a 50/50 chance. It all depends on if the genes are recessive or dominant. My daughter has HSP and is 13. I am thinking that both my husband and I have a recessive gene since our daughter has the disease. Best of Luck! There are groups on Facebook for HSP. See if there is anyone there that has been through this.

    • Ashley says:

      In the uk I’ve been told once u find out your pregnant u can get genetic testing

  19. lesley-anne anderson says:

    I completely understand what you and your family are going though, my son is 7 and he was diagnosed with HSP about 2 years ago now. I noticed from about 16 months old that when he stood at the furniture his foot was not positioned right I would constantly move it into the correct positioned but it wouldn’t stay there also I couldn’t hold him for too long as his legs would turn purple. Everyone say’s ” your just an anxious mother” as it was my first(and only child) but you are totally right you know as a mother when there is something not quite right. I took him to the doctors expecting the he would say the same thing… but he said there is something wrong just by looking at the position of his feet. He got us referred up to the hospital to start doing test’s. He went though so many blood tests, x-rays, MRI scans and being pulled in all directions from the doctors/consultants it was heart breaking to see my beautiful boy go through this at such a young age. He was given heal cups to put in his shoes to help him walk and position his feet correctly he got these at about 18 months old he took his first few steps after this at my nephews christening I was hysterical with joy he finally took them. When he was 4 years old they told me he had CP but still continued to do there tests I was heart broken!! thinking what kind of future is he going to have. A year later they told me they were wrong it was HSP I was so angry with them all for doing this to me and my son. He wears splints all day every day and does his exercises to help keep him supple as possible but I also push him to do other things, he does swimming, karate and football not very well but he always gives 100% into everything. His hands and bowels are also effected. He is now at the age he is asking questions about his HSP and asking why me? why cant I do things the same as everyone else? My reply is everyone in life is different, and god made you special for a purpose to show people how lucky they are and also that having this does not affect your ability to do anything you put your mind to… always say look what I can do with this disability instead of what I can’t do! He is my absolute HERO! he doesn’t complain much with everything unless he is having a bad day.

  20. Daniel says:

    I was born with Hereditary Spastic Paraplegia in 1983, I got a story about a certain aspect of it at The 253 in the 402. If you need anyone to talk to, that might be able to offer any advise based of of his experience, you can always find me at my blog. Being a person with the same disability, I can relate to most of this story.

    • Daniel says:

      I went back and read though the entire article and being a guy, I have to admit, that I started to tear up when you mentioned the part about your daughter being sad because her friends were a lot more mobile then she was, it reminded me of being a kid and saying similar things. I however was able to walk a lot better then her when I was that age, so I might be over stepping here. I watched the video and it might sound strange but it made me smile, it made me think of the times when my parents took me down to some place out of state to perform tests, done in 1987ish, where they stuck a bunch of Styrofoam type ball all over my legs. I’m glad to see that she is happy.

  21. Ryan Berg says:

    I too have HSP. I am getting whats called a Baclofen pump put in me. From the looks of it it may be a great help for Brianna too. It’s not a cure but a helper. She is a fighter, and that is really good to see.

  22. Steven Cox says:

    I feel for you as I have family with the same condition. I have a wife, daughter and mother in law all diagnosed with hsp. It seems that everything that they try on my daughter has no affect. Physiotherapy, baclofen pump, even multi level surgery straightening her legs seems to have had no affect. Im praying that we will have some good news from research soon. We still have hope.

  23. rebecca says:

    dear beautiful brianna,
    hearing your voice was the brightest moment of my day. your unabashed excitement as you exclaimed “this is a fun day!” and when i heard you say “this is exciting” with absolute glee at the prospect of a cane that could make walking a bit more possible.
    couple that with your sweet excitement of taking your “stick” to school!

    you have no idea how you have reached straight into my heart to the exact place i needed lifting.
    i am quite a bit older than you brianna and i too live with an extremely rare disease.
    tonight i want to say meeting you here and witnessing your unbridled joy was the perfect healing i needed most.
    sending you love and gratitude,
    rebecca

  24. jenni says:

    An inspiring story so similar to my own. my daughter is 10 and we have been struggling with diagnosis for 4 years. her condition is worsening and the initial diagnosis of CP seems less likely the true cause. we are just starting out on the HSP genetics testing, which seems to be in its infancy here in the UK, but hopefully we can get some answers. Like your daughter though they are tough little fighters and mine is currently swimming her out out aiming to be the next paralympian! I wish you and your family and all the other individuals living with this disability all the best and continue to be grateful for what we have, beautiful children, with extra special qualities of determination, bravery and strength xx

    • Beth says:

      Jenni, we’re in the UK. Our twins who are now 3 were tested when they were about 15 months old. It was very quick, we got the results within a week. Hopefully you’ve got your daughters results by now?

  25. justin paine- whitman says:

    Hello im 29 now and i also have hsp, mine started affecting me at the age 8 but i was still able to walk and run. It was rough. But at the age of 18, i had some big surgeries to help me walk better. First they broke my femors and rotated them outwards so i wouldnt walk pigeon toed anymore. Then they did a bunch of tendon leighthenings. It helped alot to where i was able to walk almost normal with a little limp. Portland shrinner are wonderful

  26. Melissa says:

    I am glad this blog is highlighting HSP. My daughter, who is 13, was diagnosed at the age of 8. It took us 6 years for a diagnosis. We knew from the time Ash was 12 months that something was not right. As I was reading the above, I feel like I could have written it. The only difference is Ash’s white matter did not develop properly. She has PVL on top of HSP plus a couple other diseases, too. We were told that Ash will lose her ability to walk sooner than later. We will keep her walking as long as we can! We will fight as hard as we can to keep this disease at bay.

  27. Jessica Anderson says:

    You’re story is very similar to mine. My son started signs between 6-9 months old and never walked and was constantly getting worse. We too got the cp diagnoses and went through the same exact process and thoughts you did with it. But our journey took longer to get to hsp. A couple months after the cp diagnosis they brought up hsp but they kept ruling everything else out first. When we finally convinced a doctor to do a genetic panel the geneticist told us no he didn’t have it. This year they finally did it and last week we found out he has hsp spg 4 with a rare strand from that. He is now 4.5 so it’s taken us 4 years to get there. He only walks with a walker and is mostly confined to a wheelchair because his progression has gotten worse over the past couple of years. Your daughter is adorable. Thank you for sharing, it makes me realize I’m not the only one out there.

  28. Pat says:

    I was diagnosed with HSP back in 2005 – at the time I was 54. I had a few problems before that and despite MRI’s etc. I didn’t really belieive that I had the disease. I finally had genetic testing as part of a clinical trial out of Miller School of Medicine in Miami and they confirmed that I had the SPG 4 mutation. My disease has progressed rapidly but having two foot surgeries gone wrong and other issues with my feet didn’t help. I’m now 62 and using a walker but I’m in pain alot of the time so it’s hard to walk. My heart breaks for all the kids that have this disease and were diagnosed at an early age. It’s just very hard to explain it to everyone – some doctors, physical therapists, friends etc. It’s exhausting just telling them what you can and can’t do. Doctors don’t want to be bothered unless they can “cure” you and in this case they can’t. I was researching exercises for Physical Therapy when I found this article. Your daughter is beautiful and even though having HSP is far from a blessing it’s good that you know exactly what disease she has. When you have symptoms of a disease and no one knows what is wrong it is exhausting just going for the tests and explaining everything to the doctors etc. At least this way you can stay informed on the disease and any news about it.

    • allen says:

      Hi Pat,

      Thanks for sharing. Are you aware of the Facebook group? If not, it is easy to find if you search for Spastic Paraplegia Foundation.

      People are always asking why they should get tested and your answer is the best one I’ve heard.

      Thanks for sharing.
      Allen

      • Pat says:

        Thanks Allen. I very rarely go on Facebook but I should because it’s a way of staying involved in what is what with this disease. Right now I’m doing some physical therapy and aqua therapy (even though the “pool” was more like a hot tub because it was small and above ground) but I like the aqua therapy. I think if I loosened up my muscles a little bit it would help. It just felt so nice to go in the warm water. But you know if it wasn’t for that clinical trial I probably wouldn’t have gotten tested. When I inquired about the fee for the genetic testing they told me it was $5,000 but insurance will pay some of it. I called my insurance (BCBS) and they told me that they decide AFTER you have the test. I thought that was crazy because most people can’t afford that kind of money and I don’t know why BCBS couldn’t tell me up front. I was lucky that they were doing the genetic testing as part of a clinical trial. In my mind I kept saying the doctor was wrong, I’m going to get better etc. so the test results proved he was right and now I’m just trying to go from there.

  29. Ashley says:

    Hi I suffer from hereditary spastic paraparesis I watched this little girl when she was at home with parents it broke my heart I find this video heartbreaking, if I plan to have children they can get HSP I don’t know what I would do, what I go through on a daily bases is what this little girl goes through, this little girl parents deserve so much praise

  30. Beth says:

    I’d love to be able to get in touch with Briannas mum. We have 3 year old twins with HSP (spg4) and my husband also has it. Other than my brother-in-law and his wife I only know of one other mum who has a young child with HSP. It’d be amazing to be able to chat all things HSP with a group of mums (and dads) who totally understand who each other feels.
    If it’s possible could someone ask Briannas mum if I can email her? Brianna is amazing but so must be her parents.
    Sometimes it’s hard when you feel like no-one else really understands how it feels as a mother of children with HSP.

    • Beth says:

      I should add, we’re in the UK

      • Jasmine says:

        I would love to join such a group as well. My 2.5 yr old hasn’t had an official diagnosis but we are going through the genetic testing now. Beth – if you get this, please let me know how I can contact you. I’m weary of posting my email here so hopefully there is an administrator who can act as a middle man.

        • Karen Prior-Bernard says:

          Hi Beth & Jasmine – please feel free to email me at whispered13@hotmail.com if you would like to connect. There is also a group that was recently started on facebook just for parents of children with HSP. I hope you and yours are doing well. I would be happy to talk any time.

  31. Lindsay says:

    I could have almost written this same story about my son and the journey word for word. He has his hand, swallowing, legs, breathing and eye muscles are impacted. He is very smart but it takes him a while to get the breathe out to say what he wants. We can not wait for more answers as we just got Lucas’ dx in nov. He’s 4. It been a long road.
    Brianna is so awesome for continuing to push through. So greatful for finding the foundation and facebook group. You guys are amazing.

    Lindsay

  32. Carol Cannavan says:

    My four-year-old granddaughter, Connie, has just been diagnosed with this condition, after two and a half years of investigations. The doctor said it was impossible to say how long she could go before there was further deterioration, sometimes when young children have HSP they reach a plateau and can stay stable for years. We are hoping this is the case.
    Her mum is doing everything she can to keep her legs exercised. Connie is taking swimming lessons and she likes horse riding, which has helped to develop her core muscles. We feel this has helped her balance.
    It’s very sad to think that other children are suffering with this condition, but it is also good to know that we are not on our own.

    Carol (UK)

    • Hi Carol,

      I am sorry to hear about Connie. That is hard news to get but I’m also happy to tell you that Brianna is thriving and I’m sure Connie will too.

      If you can, get her tested. If she has SPG3A, which the most common early onset form of HSP, then it is considered non-progressive. In other words, how she is now is how she will stay. Most of the time kids who get this when they are older get the progressive form.

      Good luck to you.

      Warmest Regards,
      Allen

  33. Carol Cannavan says:

    Thank you so much for that information Allen, I will pass it on to my daughter so she can ask the consultant on her next visit.

    So pleased that Brianna is doing so well, she is a beautiful little girl.

    Carol xx

  34. Danny Preston says:

    Hi Allen

    My daughter is Connie who Carol is talking about and i would just like to thank you for your kind words and information .
    Just to echo what my mother in law Carol said its great to hear Brianna is doing well and we wish you all the luck in the world with her progress .

    Best of luck for the future .

    Danny and Jenni Preston x

  35. Sabrina says:

    Firstly, let me say that I understand your little one’s pain, it’s not an easy thing to go through in the slightest. I was diagnosed with it when I was 8, and it is a constant struggle, and not only with walking. I hope that the doctors alerted you to the other things that may occur with her, including the spastic nature occurring in her hands and arms(this may develop later), depression, and eventually, becoming paralyzed altogether. Also, if she ever finds a man that is man enough to love her and become her husband, having a family is going to be the hardest thing that will challenge her, but it’ll be worth it. Having this disorder means that she may pass it on to her children, starting a line that may or may not end with each generation. I am the sixth generation to have it in my family, and I am currently pregnant with what is quite possibly the seventh.

    All that really can be done, is encouragement, and lots of it. This disorder isn’t the most deadly, but it is by far one of the worst things to have to go through, especially when starting at a young age. I do hope the best for all of you, and hope that she can surpass everything that is going to come her way.

  36. Elissa N. says:

    Dear Brianna and Family:

    I was diagnosed with HSP at an early age. My mom noticed my difficulties in walking at the age of 4 and so began my journey. I am now 30 years old and have two boys of my own. One is 9 and the other is 7. My 9 year old is also affected by HSP and is unable to walk without assistive devices. I have two older siblings and one younger sibling that are not affected by HSP. I was always pretty ignorant myself when it came to my HSP until my son was diagnosed in 2006. In reading Brianna’s story I can complete relate to Karen’s feelings as her mother as I have the same reactions with my son. Brianna is a beautiful young girl and will continue to thrive because of the wonderful love, acceptance, and encouragement her parents are providing. God Bless and will keep little Brianna and family in my prayers. I continue to pray for a cure someday. Even if it is too late for me, I want the cure for my son and any other child that is facing the obstacles of HSP today and in the future.

  37. Sarah says:

    Brianna is so beautiful. I love her courage. Thank you for sharing her with us.

    I came to your page seeking other children with spastic paraplegias. My son is showing symptoms, which I knew to watch for but did not expect until later per his neurologist. You see, he has a genetic condition, and that condition is associated with the REEP1 gene and SP31 as well as HMN5B (hereditary motor neuronopathy type 5B). He is two years old, but truly his timeline of symptoms may go back to birth but were so subtle I never connected the dots.

    From birth he had abnormal movements of his hands and rigid lower limbs with some rigidity in his upper limbs as well. His pediatrician sent him for an MRI because of this plus microcephaly at his four month checkup. He was late to crawl, stand, and walk. When he first stood, he did so on his tiptoes. Now that he is walking we see that his feet turn in, he stumbles over his feet, he has balance trouble, and he drags his foot or stubs his toes while walking.

    I realize this is a different form, and we are in the evaluation phase despite a genetic abnormality being known, but your story touched me and I thought sharif ours might help someone else. We go next week to be fitted for orthotics.

  38. Allen says:

    Hi Folks,

    I know I don’t come on here often enough to answer all of your wonderful emails but I would say thank you to everyone for having the courage (yes, courage) to share their stories.

    Most people are afraid of being judged because their circumstances so it takes someone with strong character to open up. But these stories are what inspire others to continue to fight; to know that there is a community of people just like them; and that they are definitely not alone.

    But they also do more. Your stories inspire researchers to keep looking for a cure. I’ve spoken with many of them and they all spend so much time looking through microscopes they often fail to appreciate there are actually real people who need their help. Your stories remind them that this disease is more than just interesting science, it is real people working hard every day to make the best of that day despite their many challenges.

    So please keep sharing. Science is moving forward. There is a lot of interest from the medical community in HSP so there is every reason to hope that one day a treatment or even a cure will be found.

    Warmest Regards,
    Allen
    Brianna’s Dad

    PS – If you haven’t discovered it already there is a strong Facebook community of people just like you who would love to hear your stories and offer you their support as well. https://www.facebook.com/groups/12339208066/

  39. jw says:

    Great story. I am now 41 and just now diagnosed with hereditary spastic paraplegia. I spent my youth in constant pain, sometimes barely able to walk. I’ve been mis-diagnosed time and again. Now that we have an understanding of what is really going on I’m finding it is just catch all. —comment edited to remove product specific information—-

    Have you experienced any alternative medical practices that have helped your daughter?

  40. Madison says:

    I have hereditary Spastic Paraplegia. I’m 14 and it makes it extremely hard for me to do most things. My dad, his dad and all my siblings have it. So it wasn’t a surprise when the doctors told my parents I had it. Before we even went my parents knew. Because of the way I walked and stood. I feel like everyday it bothers me more and I’m more self conscious about it. And kids say mean things but kids will be kids. And I’m sure I will grow out of being self conscious about it. I hope your daughter does everything she wants to do. And she doesn’t it let it get to her.

  41. Asadullah rozbeh says:

    Dear colleagues
    Let me join this conversation while i was reading above messages my tears were flowing from my eyes as we were all on the same boat to live with this condition as my son had it god help us

  42. Connie Grimes says:

    Your daughter is so beautiful. I have two sons 15 and 17 with HSP diagnosed a year ago. First I was told that my 15 year old had CP, when he was 5, my 17 year old started having symptoms at 13, now 17 he is using a cane, he went from a Karate Champion preparing for Junior Olympic Trail to a cane; he is devastated by this disease. My 15 year old has had tethered cord surgery and cord release on his legs, and may need hip replacement. I work out to help with my stress. your story made me smile; your daughters story will help others to keep going.

  43. Cathy Bilous says:

    Our story is identical to your families struggles, we have a 17 year old son who was first diagnosed with CP at the age of 3. We were told that no other symptoms would appear as cp is brain damage and the damage was already done. So we were in a false reality when in grade 9 my husband had noticed that there were now issues with his hands, it was at this point that the doctors have made a miss diagnosis. Again we went through the grieving process and we were alarmed that in alberta there is no testing for genetics to totally diagnose our son as having HSP. How did you all get tested? Currently our son only has suspected Hsp and is the only member in our family history. I would really like to confirm his diagnosis so there would be no more surprises in our future. We are so proud of our son who is function well in main stream school and is looking forward to university life in the near future. Any info you could give me getting a diagnosis would be very helpful. God bless your entire family.

  44. jenn says:

    My son is 22month n i notices at about 9months he couldnt sit up on his own or roll over i was worried but dr told me kuds divelope at diff levels n for me to relax well now my son can do all those things he bcan crawl but he cant walk he tiptoes n his knees turn in they were thinking sum kinda c. p but this other dr looked at him n said it looks like hereditary spastic palegia i hav never heard of it so i utubed it i hav never cryed so hard in my life this is horrible there has to by a cure aventually for this. i was very inspired by ur story n god i know exactly how u feel 100percent im trying to learn more bout all this

  45. Julie Desmarais Trépanier says:

    Hi. My name is Julie Desmarais Trépanier, I’m 35 years old. I live at Québec in Canada and I received the diagnostic of Heriditary spastic paraplegia (SPG4) few mounts ago.

    I actually work to create a NPO to raise money to find a treatment for spastic paraplegia SPG4. My website is in progress and I invite you to contact me if you want more information on pcidropmail@gmail.com

    In June, if all stay good it will be the launch of my NPO :)

  46. Rachel benstead says:

    My little boy aged 2 and half has just been diognosed with HSP. Reading your storey about your beautiful little girl gives me hope, a light at the end of a very long sceary funnel thank you x

    • Allen Bernard says:

      Hi Rachel,

      Take heart. Our little girl is doing great and I’m certain your boy will too.

      Warmest Regards,
      Brianna’s Dad

  47. Holly Krentz says:

    Our adopted son started toe walking @ 5 yrs old
    He has had physical therapy and several rounds of serial castings and botox. The genetic testing for him was Spg4 that came back negative but did find one gene mutation for the severe early onset form..

    So we still have no answers. Our son is almost 9 yrs old and currently in a round of serial casts. Any suggestions? We’re frustrated and not sure what to do. Thanks for your time & God bless!

    • Allen Bernard says:

      Hi Holly,

      Thanks for reaching out. While I can’t give you an medical advice I can tell you that we tried all of those things and they really didn’t help much so we stopped. HSP is very individualistic and generally progressive so it’s hard to know exactly what you are dealing with. But I can say that fighting HSP so our kiddos walk “normally” is a loosing battle. But that’s okay. What’s working for us is to accept our kiddo’s physical limitations and to focus on where she shines — and there’s a lot to focus on.

      I can also suggest that you get in touch with Dr. John Fink at the University of Michigan. He is the world’s leading expert in children with HSP and who we see at least once a year. Here’s a link you can use: https://www.medicine.umich.edu/dept/neurology/john-fink-md

      You can also check out the National Institutes of Health to see if they have any open trials or would be interested in seeing your son. http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm

      There are also a couple of Facebook groups that we’ve found very helpful in getting real-world advice on how to manage HSP better — something even the best doctors find hard to give sometimes.

      Then there is the Spastic Paraplegia Foundation that may be able to provide you with some information: http://sp-foundation.org/
      I hope this helps just a little and wish you all the best.

      Allen

      • Holly Krentz says:

        Thanks so much for the info. Sharing your daughters story has and will help so many people in this situation. God bless!

      • Karen says:

        Hello I’m a person with same as your daughter from birth it show me having trouble walking of my tiptoes but I’m Botox injection in 47 I believe in strength and kindness help u take losing running jump in life you look how to better your life no negative I’m. Looking beat this HSP and walking jump dance soon as I can I strong in mind it first step let neophaphy Botox be my answer I pray every day

  48. What a beautifull story.

    My Sister in law was also born with (HSP)when she was bout your daughters age she was confined to a wheelchair. over the years she has progressed to a frame and now she is on cruthes. i dont think she will ever walk independantly but who knows the doctors also told her she would never walk at all.

    When she was around 5 her mother started to teach how to ride a horse. Its been 10 years now nd she spends everyday with her horse. She does not let her disabilty get in the way of anyhting she wants to do and i take great inspiration from her. she has recently started to take her horse to shows and competes in competitions and she specifically chooses to compete against able body riders as she does not want to be looked at any differently to anybody else. She set up a facebook page called abled in disabled to show other that her disibilty does not mean that she is good for nothing. Im so proud of her i built a website to follow her along on her journey as she has a dream of on day competing at the horse of the year show.

    I dont want to take anything away from your story i mearly wanted to add to it and to show that there are many possibilites open to your daughter as she grows up.

    if anybody is interested in seeing what my sister in law has accomplished despite having (HSP) you can visit the site at http://www.abledindisabled.com

    thank you for posting your story and for letting me add to it

    Colin

  49. Your daughter is like a inspiration I live her life it hard but u have show strength positive everyday till there cure HSP

  50. B. says:

    Hi!
    I am writing a book about a person who becomes a paraplegic, your story was very helpful, and I feel so bad for Brianna she is just a little trouper.
    Also if you have any good ideas please contact me at:
    snowofoakvale@hotmail.com
    Thanks,
    B

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  1. […] running the Boston Marathon on April 15th and his patient-partner is Brianna. Please check out this great write up my wife Karen did for the Genzyme blog about our experiences over the last three years dealing with […]

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