4 year old son with muscle weakness

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  cohlava | Physical Therapy/Exercises, Symptoms, Research | published 10 months ago | Originally written in English 4 year old son with muscle weakness

  My son has muscle weakness in his thigh and hip flexors as well as tight heel cords. We first noticed it when he first started walking at 16 months. He would fall all the time, and still will stumble a few times a day. He's had blood tests MRI's that show nothing. We've seen Dr's in NY and Boston and no diagnosis yet. My Father in law was diagnosed with primary lateral sclerosis 3 years ago, which to my understanding is a form of HSP. SO... my question is... can someone with PLS pass HSP on geneticaly? I see what my father in law goes through, and I wish I could help him more. He lives in NY and we've recently moved to NH. He does have a lot of help and support from other family members. If anyone has any info I'd greatly appreciate it! thanks
  11 replies to the topic — see all replies

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    fernando published 10 months ago | Originally written in Spanish

    As long as I know, PLS and HSP are similar but different diseases.
    I recommend you to contact the US SP foundation (www.sp-foundation.org/).
    Their goal is to have all individuals with HSP or PLS diagnosed, treated and cured.
    Regards
    Fernando

    Notice: This text content has been translated automatically by a third-party service.
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    amlockwo published 10 months ago | Originally written in English

    I am sorry to hear about your son and father-in-law. Both PLS and HSP are upper motor disorders. There is a very rare form of familial PLS. Another possibility is that your father-in-law may have HSP instead of PLS. If you are close to New Britain, CT, I recommend seeing Dr. Jinsy Andrews at the Hospital for Special Care. She has experience with PLS and HSP. She recently spoke at our Annual Conference and was very impressive and personable. I have also asked Dr. Fink, SPF Medical Advisor, if he had any other thoughts regarding your situation. I will let you know if he has any other suggestions. A summary chart with the symptoms of both HSP and PLS is available at www.sp-foundation.org/about-the-disorders....
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    cohlava published 10 months ago | Originally written in English

    Thanks you both so much for writing back. Sometimes I feel like I research and call and write and get no where. I was wondering if my father in law might have HSP also. My father in law attended a conference in Texas last month. He gave me Dr. Finks e-mail, as he was quite fond of him also. I did e-mail him and he said without seeing him or having any medical background there isn't much he can do. We're in NH, he's in Michigan so making an appointment is out of reach for us at this time.
    As for my son Cohl... luckily his muscle weakness isn't progressing. It has stayed the same. At times even seeming to get ever so slightly better, and then making a slight down hill. He has tight thighs and hip flexors, but his calf muscles are extremely strong.
    Do you happen to have an e-mail for Dr. Jinsy. I do have some reports she has written with a phone #, but no e-mail. I usually make better progress through e-mail. Like I said We're in NH, not quite sure how far New Britain is. If thats where I have to go though... I'll be there.
    Thank you again for your help. I really really appreciate it!
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    amlockwo published 10 months ago | Originally written in English

    Yes, the Houston conference that Nick attended was our Annual Conference for the Spastic Paraplegia Foundation at which both Dr. Fink and Dr. Andrews spoke. The email for her is jandrews@hfsc.org.
    I first met your father-in-law last October when he came to VA for a meeting we held here. I was happy that he was able to attend the meeting in TX as well.
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    tanyahall published 9 months ago | Originally written in English

    My 14 year old daughter was always a clumsy walker, constantly falling. She finally got diagnosed with hereditary spastic parapersis just 2 years ago. This is hereditary and I have been tested and carry the gene and also been told I could show symptoms in the future.
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    Jenniferb717 published 5 months ago | Originally written in English

    I also have a very young son that we have been told has HSP about a year ago. My son turned 3yrs old in September and he has struggled to walk without falling since he was old enough to start trying to walk. He still falls down about every 10-20 steps. He is the sweetest kid and he has such a great personality. He wants to be completely independent and wants to do EVERYTHING by himself more than any child I've ever known. In my family, I am not aware of anyone having HSP symptoms already present from birth. I haven't been able to find out any information regarding this. I am concerned for my son and his future and I completely understand what you are going through right now. I feel as though I could handle it so much better it just being me... I would take on anything if I could keep him from this. In our family, we have the most common, dominant gene mutation. My Dad was an only child and he started having symptoms (just a slightly different walk) in his late teens/early adulthood. He's been almost completely unable to walk at all even with a walker for the last 20-25 years. I was diagnosed about 5 years ago as also having HSP and my older sister was diagnosed a few months before I was. My sister was 35 at the time and had no symptoms but had a son that wasn't crawling at 1 and the doctor told her that she had to be tested before he could be. Her son is fine now and doesn't seem to have HSP. They believe it was just low muscle tone in his stomach and PT helped him. After she found out that she had HSP, I wanted to know for myself if I had it also because I felt myself tripping more often and not always able to lift my toes as well as I could before when walking (sometimes). I am now 34 and I seem to have more symptoms than my sister who is 40. My symptoms aren't severe yet. Its just a few things and only mildly bothered by them as of now. We are the only 2 children my parents have. My sister and I both have 3 children each and as of now, my youngest child, Jake, seems to be the only one who has it. I didn't have a blood test done but he saw a pediatric neurologist - Dr. Barbara Goldin- and she was certain that he also has HSP. I feel helpless that I don't know how or what I can do to help him. Or if there even is anything that I could do. If you find any information that could help us, please forward me anything you can find. All I know is that this the road we must face and I'm not even sure how to face it or what I can do now to help Jake right now and if there is anything I could or should be doing for him. Please let me know if you are able to locate any helpful information. It would be greatly appreciated.
    - Jennifer
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    cohlava published 5 months ago | Originally written in English

    Jennifer,
    I'm so sorry to hear of all your heartache. I do wish I had some information to forward you. I was wrong on the diagnosis as were Doctors. Cohls muscle biopsy came back. After reviewing the slides 3 times the pathologist told us... Cohl has no slow myosin heavy chain. After research and research I understand it a bit but not completely. What we do know is no other patient has this. They did another blood test today to check a specific gene for a mutation. Unless we find another patient we will not know how it progresses.
    Everything is so up in the air. I don't know what is good for him and what is not. He is now complaining of muscle cramping and fatigue. They gave him some vitamins. Everything is trial and error. How do you raise a healthy happy child on trial and error? How do I help him? What do I tell him?
    I guess we're in kind of in the same boat. What a hard thing to deal with everyday. I try to be so strong. We'll gladly send prayers your way if you do the same for us. Please keep me updated on how everything is going.
    - Kerri
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    Jenniferb717 published 5 months ago | Originally written in English

    I will definitely be praying for your son and for you and your family. Prayer is always the way. I appreciate your prayers for us too. Those are the same things I keep thinking about too. What do I tell him? When will he notice that he's not like any other kids? This is absolutely the hardest thing I've ever been through. Does he have any siblings? Jake has 2 older sisters but they are only with us every other week (split custody). So every other week it's just the 2 of us during most of the day. I even battle the idea of not wanting him to go to school but maybe homeschooling him instead. I just want to protect him from the things that I can. In reality, I know that I can't keep him from being picked on all the time...but at least I could be with him and not leave that up to someone else. I'm new to this site. Is there a way I could send you my email address? I'd like to be able to keep in touch and find out how you and your son are doing.
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    eckelsburrows published 3 months ago | Originally written in English

    I saw that you said you had moved to NH. My nephew is in the Rochester area, but I travel to Manchester and Conway frequently. Where are you at? His dad has HSP (it's fairly common here) so his diagnosis was quick and he got started on OT and PT before age 2. He's getting outfitted for his walker, and already has his braces. He's a a fighter, tho' and his Dad is late 40's and still walking, although he has to use crutches, so no one is holding him back from anything!
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    maite published 3 months ago | Originally written in Spanish

    At the beginning it was desperation, because you go from doctor to doctor and you don't find the way out. My son is 34 years old and he started with strange things when he was 19. He played handball and fixed rowing, before he rowed he was the last one when he ran. He started with spasticity and 3 years ago after numerous tests rejecting other sicknesses they did the genetic tests to all the family, after a recommendation of a neurologist and this is when they diagnosed family spastic Paraparesia form 11, complicated with axonal polineuropathy and recessive and degenerative sensitive ataxia. He has had to change his studies, retire from his hobby which was American billiards and as time goes by, he has to keep retiring from things he used to do. It has taken his hands, to do small things., He's in a wheelchair, he's working in a special work center and he luckily has a special character and happy and some friends and father that are wonderful that urge him on and support him, as he is more and more dependent on us. I urge all the those that are in this conditions, I send them our support and solidarity. We have to fight for them to the maximum and all together we will be stronger and we'll obtain much more so that they will have better opportunities and a better quality of life. My regards to all.

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    fernando published 3 months ago | Originally written in Spanish

    Bonitas palabras, Maite.
    Ánimo y un abrazo.
    Fernando