SPG 15 hereditary spastic paraplegia

Recently my 15 year old daughter has just been diagnosed with SPG 15. Is there no treatment out there at all?

Written by Cari-16, published 9 months ago.

SPG 15 hereditary spastic paraplegia

Having spent the last two years chasing various different doctors to find out the reason behind why my very fit daughter has suddenly changed and started walking with spasticity in her lower legs.

We were originally given a probable diagnosis of another rare disease called Krabbe as she had low enzymes connected with that particular gene. However now after having tests on the HSP panel and an exome sequencing test it has come to light she now has SPG15.

We as a family for the last 2 months have been chasing treatments/cure for the original disease we were told which there was stem cell transplant. Now, that is on hold we are having to change direction but is there nothing out there at all? Only management? Having been told this is a complex disease is there no way of knowing how fast the progression will be?

Written by Cari-16, published 9 months ago.

9 comments for «SPG 15 hereditary spastic paraplegia»

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  • cx3ane | published 9 months ago | Originally written in English

    My daughter is 16. She was diagnosed with HSP when she was 8 years old. It took us 6 years of many tests. I was determined to have the proper diagnosis. Back then, my daughter could not walk, but had to be taught how to. She walked. Now Ashleigh's walking is getting progressively worse. We were told 3 years ago that she would be in a wheelchair soon. My advice keep your daughter moving. That is the best thing for her.

    If you have not looked at the Foundation's website, it has lots of information. http://sp-foundation.org/

  • Cari-16 | published 9 months ago | Originally written in English

    Thank you for your reply and advice. How is your daughter and do you know what strain she was diagnosed with? It has been such a shock this week. But I will keep looking on the sp-foundation website for as much information as possible. Where are you based?

  • franc1s | published 9 months ago | Originally written in English

    If you look on that same web site, sp-foundation.org, click on "resources" and then "ambassadors" you will find the ambassador for your state, if you are in the United States. Once they know your contact information, they will let you know when the next arranged social function is arranged. It can be helpful to meet other people with this condition. Additionally, if you go to Facebook and search for Hereditary Spastic Paraplegia, about 5 groups will pop up. One of them is for HSP Parents. There, you can ask for and get very helpful advice from people that share your experience.

  • Cari-16 | published 9 months ago | Originally written in English

    Thank you Franc, we are UK based but I'm looking in the US to see if there is anyone with this form. I have just looked on Facebook but couldn't find the HSP parents, does it have another name?

  • sueKirky | published 8 months ago | Originally written in English

    i suggest you send a friend request to Hereditary Spastic Paraplegia's unite which is UK based. It is a very friendly and supportive group and will be able to help you no end. There is also a group for parents called Spastic Paraplegia Parents, again, UK based.

  • TinaGMc | published 8 months ago | Originally written in English

    My son Sam was diagnosed with SPG11 when he was 19. Sam's onset was similar to your daughters. We knew he had learning disabilities but didn't realize until he showed symptoms of ataxia in his legs that they were a part of the HSP diagnosis.

    It was a shock to Sam who had always been able to walk everywhere and was a 5th degree blackbelt in Taekwondo. I think every family and every person react differently but what helped us understand what Sam most needed was to stay present in the moment, focus on what is important now, keep Sam fit with yoga, body work, nutrition and exercise (we have a theracycle) and work with Sam's neurologist on using medication to lessen the impact of symptoms.

    Sam is now 24. He knows the progression and we talk about what it might be like to use a wheelchair to increase his mobility and freedom. Sam had his driver's license for about four years after he was diagnosed but gave it up this year because he doesn't have a strong enough reflexes or ability to move his leg and foot should he have to break suddenly. We help Sam with transportation and are looking at Uber so he can get to activities where he wants to be independent of us.

    The biggest difficulty can be isolation once a youth graduates from High School. Many of Sam's friends left the area or can't see past the symptoms. Internet has helped Sam make new friends and reach out from home which is his base. We added on so Sam has his own apartment but we share cooking and eating together. We also changed the house so mobility issues work better for everyone.

    I believe that some day progress in how to heal neurons may help Sam and others with conditions where degeneration in the brain is affecting movement, but for now its more important to focus on what Sam can do and wants to do in his life. Every individual is different. Coming to terms with the diagnosis is painful and takes time. The first year post diagnosis was the hardest.

  • smkroll | published 6 months ago | Originally written in English

    My daughter will be 16 next month and was just diagnosed last week with SPG4. Her main symptom is spasticity (clonus) in both legs that prevent her from walking more that about 20 steps. Before her diagnosis she was in Children's Hospital for 8 days getting tests run, and they gave her Klonopin. It did not really help the clonus, and just a tiny dose (.25mg) made her so drowsy she fell asleep. She said there is no way she can be at school on that. We meet with the genetic specialist later this week to find out more. I know baclofen seems to be the primary drug used, but it also has dizziness/drowsiness as a side effect. She is home now on medical home study and is feeling isolated and getting a bit depressed. And her legs ache from the continued spasms that will last for hours sometimes.
    Is your daughter still able to attend school? Perhaps we could start some kind of online support group so kids this age can connect.

  • Cari-16 | published 6 months ago | Originally written in English

    My daughter attends school 2-3 times a week as sometimes she is just too tired as her legs ache. Also having been chasing so many doctors to find treatments have also taken its toll a bit, as yet she feels a little negative that they haven't yet helped her. Yes I think it would be a good thing that some of these kids have someone else to talk to, online , a little network of friends going through something similar . I think I just replied to your message on HSP Facebook page X

  • franc1s | published 6 months ago | Originally written in English

    Something your daughter might try as it really helps me is Magnesium. I have SPG4 HSP and by taking Magnesium 3 times per day I do not have a problem with clonus. If I ever skip a dose, my legs will start jumping around. I take Magtein 3 times each day. You can get it on Amazon. It is a formula that says that it is able to cross the Brain barrier. Another thing that a lot of people with SPG4 use is a Medtronic Intrathecal Baclofen Pump. You have probably heard of this. I have one because when I took baclofen orally, it made me a space cadet. I was more off in a cloud than sleepy. Anyway with the pump, I don't have any side effects. You can go in and they will run a test to see if this will help your daughter before you decide to have it implanted. Also, I suggest that if you do decide to get the pump that you go to a surgeon that has installed a zillion of them. Good Luck!

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