Diagnosed with hereditary spastic paraperesis and progressive leukodystrophy.

Lucye1988

Hi, my 5 year old son has been awaiting diagnosed for 2 years, after every test imaginable he's been diagnosed with hereditary spastic paraperesis and progressive leukodystrophy. He was fine when born, then started falling A lot around 18months old and regressing with speech and movement ect. He now requires an occasional wheelchair and has an intentional tremor, he needs thickener in he's drinks, regular physio and needs a protective helmet as he falls a lot, he's arms and legs are very stiff. I wanted to know if anyone knows of anyone who has both of these conditions and the outcome/prognoses. I spoke to the doctor on the phone who told me about the test results, didn't tell me what gene ect, and he said the prognoses isn't good and to wait until we see him, I'm waiting to see him in two weeks. Any info would be appreciated xx

Rocky

Hi Lucye, firstly I think it is a shame that the doctor did not spend some more time with you explaining about this condition. Hereditary Spastic Paraperesis (HSP) has similar effects to cerebral palsy but it is a completely different condition. It is not a type of cerebral palsy.

HSP does have a genetic link and affects the long nerves in the spine causing them to deteriorate which leads to weakness and stiffness in the muscles particularly leg muscles. The condition is also sometimes referred to as Familial Spastic Paraparesis (referring to the genetic link). As mentioned, it mainly affects the lower body and symptoms often start appearing in the teens or early adulthood although they can appear in younger children. Other symptoms may include fatigue and incontinence.

There is no cure for the condition but treatments can help the symptoms. I would think the regular physio would be beneficial to your son. Generally many people with HSP live relatively independent lives.

Leukodystrophy also has a genetic link and affects the central nervous system and the myelin surrounding and protecting the nerves and neurones in the brain.

Another similar condition is Progressive Supranuclear Palsy (PSP) and the diagnosis of these conditions can be very confusing for parents.

For more information on HSP try http://www.rareconnect.org/en

Information on Leukodystrophy - www.ulf.org

Information on PSP - http://pspassociation.org.uk

I hope this is of some help.

Lucye1988

Thank you, it is a shame, I know a bit about it already but I feel like after 2 long years of tests and investigations we finally get a diagnoses but I feel like they've just dropped this bomb and legged it! The thing I would like to know is whether leukodystrophy and hsp are the same thing? My understanding is they are 2 completely different things. My son needs one to one support 24/7. He has no awareness of danger or consequence and he's understanding of things has regressed. He doesn't talk as much anymore, almost like he can't be bothered, he's speech is very poor. He is incontinent after previously being dry for a year. I just need to know about he's illness and prognoses as I understand he has a complicated case but feel so in the dark about it all. Thank you

Rocky

Hi again, No they are different conditions although both have a genetic link. I do empathise with how you are feeling, it can take a long time to come to terms with a diagnosis and to accept what that means for your child and your family. It can be a long period of adjustment because you have lost the child you imagined you would have and now have to adapt of a new set of circumstances. Also with relatively rare conditions such as this, it can be hard to find information and support.

Are you getting any help from either Health or Social Services? Have you and your son had an assessment of your needs for example the level of care you son needs or any equipment he may need. Do you get help with nappies? Are you getting any benfits? Hopefully when you next see your son's Consultant, he will be able to give you more information about the prognosis. You may also find it useful to contact an organisation like Scope or Contact A Family to talk through what support may be available to you.
Best wishes.

IsabellaBrewster

Hereditary spastic paraplegia (HSP) defines clinically and genetically varied disorders that share the main progressive, extreme weakness, and spasticity’s characteristic. Whereas, Leukodystrophy defines brain’s white matter progressive degeneration due to abnormal growth of the myelin sheath. Diagnose and treatment for both the disease is symptomatic and supportive which include physical, medications, and speech therapies.

abstractLucas

As well as info for your son you need to have some time and space to get used to what these diagnoses mean for you as a parent and a parent carer. Google may be your friend here - spend a little time finding out what the process is for your local council for you to get a full carers assessment (you are entitled to an assessment under the Children and Families Act 2014) and support with the needs that are identified - YOUR needs as a parent caring for a child with these conditions. A continence assessment for your son is a great idea, as they may have some ideas of ways to help him be dry again or else how to manage if he won't, including nappies being (effectively) prescribed so you won't have to buy them. Different health authorities have different rules/processes, but your gp should be able to do the referral to get things moving.
Hope you're okay.