Aleacia's story

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My daughter Aleacia has just been diagnosed with complicated SPG3A HSP, she also has Axonal Neuropathy. 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 6 or 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 become 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. 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 punctures, urine and eye tests, MRI’s 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 years old 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 unassisted.

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 (the muscle causes them to bounce) and buttocks (this one the muscle tics so rapidly it’s more like a vibration).

She has never been ambulant, but at age 4 she started using a kay walker for very short distances, she also has a David Hart Walker (a mechanical marvel that she gets strapped into and it leaves her hands free).

At age 2 Aleacia had an adductor release (the muscles in her groin), botox and phenol block to help with nappy changes. She has never been continent, she doesn’t receive any messages when she needs to urinate or move her bowels… she only knows when it’s actually happening and even then not always.

When Aleacia was 6 we were looking into getting an Intrathecal Baclofen Pump to ease her spasticity when 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 possibly she had a tethered spine so they did an MRI on her back. We were all hopeful but sadly the MRI came back all normal.

She was also in need of bony foot surgery so we can keep her in AFO’s and on her feet for transfers. 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 to her, 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 scouring the internet looking at so many disorders, desperately 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 a possible diagnosis. So when I told our Neurologist my findings he arranged nerve conduction tests and an EMG. The results were off the charts and we were told that they believe it’s a nerve problem not a muscle problem. They also did a muscle, skin and nerve biopsy as well.

Our Neurologist passed us over to one who specialised in neuromuscular disorders Dr Monique Ryan, she was also the one in charge of Aleacia’s nerve conduction and EMG. She told us of funding the hospital had come into that was being used for children who previously had no formal diagnosis to test for rare genetic disorders and she thought Aleacia would be a good candidate.

A sample of Aleacia’s, my husband’s and my bloods were sent to Perth for gene testing to see if they could find anything. They only thing they knew for certain up until then was that Aleacia has both Upper Motor Neuron’s and Lower Motor Neuron’s affected which we were told 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 see the Respiratory specialist and Respiratory physiotherapist.

And then came the phone call from our Neurologist. My husband took the call and I was 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 (she also has Axonal Neuropathy) of which they have only found one other child in the world so far with the same symptoms. They then tested John and my bloods but said because we have no family history of HSP Aleacia could be de novo. We do however have a family history of Neural Tube Defects, Spina Bifida in my mother and a child I lost and my teenage daughter has Chiari Malformation Type 1.

Our test results came back clear, so it was official Aleacia has a spontaneous form of complicated SPG3A HSP. Our neurologist has only found two other reported cases in the world with the same phenotype. Aleacia’s future is unknown. Our neurologist has us living in hope that Aleacia’s progression will slow or stop in her teen years. She is already so badly affected I am praying she is right.

At this point Aleacia is in year 3 in a main stream school and is where she should be academically, even considering she had 3 months off school when she had her foot surgery last year. She requires an aide or teacher with her at all times. Her aides scribe for most of her written work due to weakness and fatigue in her hands, but it is all her own spelling and punctuation or answers etc.