miércoles, 14 de mayo de 2014

Aleacia's story - Hereditary Spastic Paraplegia (HSP) community - RareConnect

Aleacia's story - Hereditary Spastic Paraplegia (HSP) community - RareConnect

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A rare and complicated case of Hereditary Spastic Paraplegia

Aleacia's story

Our long road to Aleacia's diagnosis of SPG3a complicated HSP.
Written by leacie_lea, published 11 days ago.
Aleacia's story
Warning: this could end up a long story.
My daughter Aleacia has just been diagnosed with SPG3a complicated HSP. She is my 5th child and was born in 2006 after a normal pregnancy and a normal delivery. Although I had breastfed all my children and was like an old cow I had a lot of trouble getting her to latch on properly and it was always painful. At around 7 months old I noticed it was hard to bicycle her legs and she wasn't sitting up yet. I also noticed her hands were always fisted and she couldn't grasp toys properly and yet her feet were so flexible that her foot could bend up and touch her shins.
Aleacia has normal intelligence and her speech was quite advanced although it is very quiet and a slightly odd pitch. At about 8 months she could roll over with difficulty and could sit if I propped her up with numerous pillows. She was about 13 months old before she could stand against furniture if put there. I noticed her feet were turned out and she was standing on the inside of her ankles, this has gotten worse with age.
When she was 8 months old I took my concerns to the Maternal Child Health Nurse who didn't notice a problem but told me to take her to our GP if I was concerned. So before I did that I Googled (good ol’ Dr Google) ‘stiff legs’ and Cerebral Palsy came up over and over again. Our GP said she believed that was what Aleacia had and sent us off to the Paediatrician. Well she’s since had several MRI’s that were all clear but our Paediatrician said that 9% of kids with CP have normal MRI’s (I wonder how many of them have HSP?)
Aleacia has had every imaginable blood test, lumbar puncture, urine and eye tests and x-rays looking for something that would explain her symptoms. All were clear. So she was tentatively given the diagnosis of CP. None of her therapists or specialists believed that was what we were truly dealing with but it was good on paper. She is known as their ‘Little Enigma’.
Aleacia’s trunk has low tone, her legs have high tone and her arms, hands and fingers are very weak. She could only commando crawl until she was about 3 and then she managed to bunny hop crawl. She has only just in the last 2 years been able to get from prone onto her knees if she is on a hard surface. She still cannot roll over in bed or sit up in bed.
Over time her spasticity became worse, although it wasn't exactly spastic, it was more dystonic because if you kept pressure on her legs and allowed them to move slowly you could still get a good range of movement out of them. She also suffers clonus in her legs and buttocks.
She has never been ambulant, but at age 4 she started using a kay walker for very short distances, she also has a Hart Walker. Aleacia has had an adductor release, botox and phenol block. Two years ago when we were looking into getting a Intrathecal Baclofen Pump to ease her spasticity they finally noticed the patch of long hair on her lower back that I had told them about several times. Because we have a family history of Spina Bifida they thought maybe she had a tethered spine so they did an MRI. We were all hopeful but sadly the MRI came back all normal.
She is also in need of bony foot surgery so we can keep her in AFO’s and on her feet. But the Orthopedic surgeon wanted to know more of what we are dealing with diagnosis wise and whether it would end up detrimental rather than beneficial so again we start on the diagnosis road. They said that most likely Aleacia has more than one disorder going on.
In my years of search the internet looking at so many disorders trying to find something that even remotely resembled what Aleacia has I came across Ullrich Muscular Dystrophy. Aleacia has several markers of this and I thought I’d found an answer. So when I tell our Neurologist my findings they arrange nerve conduction tests and an EMG. The results are off the charts and we are told that they believe it’s a nerve problem not a muscle problem but they did a muscle, skin and nerve biopsy as well, of which I am still awaiting the results. Prior to the nerve conduction a sample of Aleacia’s, mine and my husbands bloods are sent to Perth for gene testing to see if they can find anything. They only thing they knew for certain up until now was that Aleacia has both Upper Motor Neuron’s and Lower Motor Neuron’s affected which they said was extremely rare.
Aleacia had a Spirometry test done and although I always knew she had a weak cough and couldn't vomit with force (it just ran out of her mouth) I was still surprised that her FVC was 62. We are now booked in to see the Respiratory specialist and Respiratory physiotherapist.
And then came the phone call from our Neurologist the other day. My husband took the call and I’m so frustrated by that because I’d been waiting for this call for months and then when it came I wasn't home. My husband isn't good at asking questions or passing on information, lol.
Anyway, she also sent an email informing us that they found a mutation in Aleacia’s SPG3a gene and that she has a very complicated form of HSP of which they have only found one other child in the world so far with the same symptoms. They are now testing mine and my husbands bloods but because we have no family history of HSP Aleacia could be de novo. We do however have a family history of other issues, Spina Bifida in my mother and a child I lost and my teenage daughter has Chiari Malformation Type 1.
The HSP diagnosis explains a lot of Aleacia’s symptoms but not all, she still have several that fall into the UCMD category but we wont know for sure until we get the biopsy results back.
If you've read this far, thank you! I am desperate for knowledge and answers and to find someone who has a child remotely like Aleacia so I can pick their brains, lol.
Written by leacie_lea, published 11 days ago.

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