Finally heard ....

Self-injuries to date:

The following will give you some idea of what Alyssa has already done to herself ... so far!

* Knocked a few of her own teeth out while "teething" and caused huge ulcerated sores in her mouth, from "rubbing" her teeth on her tongue and inner cheeks

* Bitten straight through her lower lip - didn't even flinch!

* Chewed the end of her tongue off, resulting in emergency repair and incisor removal. After having the tip of her tongue repaired, she then began chewing the side of her tongue as soon as her molars erupted

* Chewed a finger almost down to the bone

* Torn entire patches of skin off, and is scarred fairly extensively as a result! :-(

* Broken both feet - and I had to argue with doctors for almost 10 weeks with one of them, because they didn't believe it was broken! Even a lot of doctors haven't heard of Pain Insensitivity!

* Broken her left leg, just under the knee, and walked about on it quite happily for at least a couple of days. We'll never know how she broke it. Any time she says "my --- is moving, all by itself," we get x-rays done!

* She had to have all of her baby teeth removed, as and when they came in, due to all the biting injuries.

She is still dealing with the after-effects of that, as a teen.

* Required spinal surgery to correct a vertebral slippage issue, which she was completely unaware of. The op itself was pretty straightforward. The post-op period was lengthy, and anything but fun.

* Developed septicaemia from one of her many episodes of cellulitis because nobody realised it hadn't gone away, and was just grumbling away as an abscess in her elbow. When she collapsed, it was scary!

* Managed to dislocate her left hip, falling from her trike .... but it took us 4 months to realise, because she didn't feel it!

* Had corrective surgery performed on both hips. Unfortunate complications ensued, which eventually caused the entire removal of her Right hip, and part of her femur.

Monday, 3 August 2009

Finally heard ....

from the specialist in New York!!!

Received an e-mail from our geneticist with a scanned copy of the letter the specialist has sent (my copy is en-route) to say that - having studied all the information she has now been sent on Alyssa, she concurs that Alyssa most likely has one of the types of HSAN (Hereditary Sensory Autonomic Neuropathies). She thinks that HSAN II is a possibility, although mentions that there is some lack of agreement between her clinical positioning on HSAN II and other investigators' views. That the children she has seen have not had the genetic mutation that othe HSAN II patients have been found to have, and that she perhaps needs to class them differently.
Either this or a channelopathy is a possibility. Which is pretty much what our neurologist/geneticist were thinking - that it is either a channelopathy, or HSAN V. The NY specialist does not feel that Alyssa's clinical picture fits that of HSAN V ... so it's still in debate, but I feel much more positive now that she has had a chance to look through Alyssa's history in detail.

She ends the letter stating that "without direct examination and further genetic testing she is not sure how much she can offer at this point" ... which is completely understandable. Looks like I better really start trying to save for a trip to New York!!! There is already a conference scheduled for this week (Thurs 7th August) and I had been considering going to it, but with the heat in NY at this time of year, it was just an absolute no-no! But that doesn't rule it out completely for me, I just need to figure out what time of year WILL suit Alyssa and plan for a trip that suits Dr A too. Now to sort out funding ....!

Hoping to hear back from some of the others who are attending the conference on Thursday ... so will post once I know what has been learned from it.

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Background...

Alyssa's story is a very long and complex one, and to put it all would require actually writing a novel, so I started this blog as a way to try and document some of what it is like to live life in this way. And so anyone reading can get an insight into what it is like to live a life without normal pain sensation. I will attempt to update it regularly, though our lives can get really crazy, as most of you followers already know:

Alyssa suffers from Hereditary Sensory Autonomic Neuropathy (HSAN) Type 7 - also called Congenital Insensitivity to Pain (CIP) with Dysautonomia - and is one of the rarest conditions in the world. It is actually a very complex condition, but in an attempt to put it simply, she does not feel pain in her arms, legs, head, fingers etc. If she hurts herself; she is not aware of it, and is usually fascinated by the sign of her own blood! Which is not great! As well as constantly having accidental injuries, she will self-mutilate - because it doesn't hurt, and well ... because she can!

How it all started: She was not the "typically happy" baby that is usually found in a child who does not feel pain, and we now know that is because she suffers from frequent bouts of abdominal pain. She can - and does - feel visceral (gut) pain, and we have trialed various medications in an attempt to reduce this. Sadly, the pain which she does feel is not 'normal' pain either, so very difficult to treat. Her nervous system just does not work like most people's. There have been 2 theories regarding the gut pain - that it is more intense because she has nothing to compare it to, not feeling pain like everyone else does; and the other is that her visceral nerves are working in a directly opposite sensitivity to her peripheral nerves. Neither has been made clear, although she has definitely been feeling obvious discomfort when she something swollen - which at least makes it easier for me - because I know something is wrong much quicker these days. I don't always know what is wrong, but can hopefully narrow down the "body part" search.

Alyssa has another unusual factor for a child with one of the pain syndromes, because she has an intense "itching" sensation, which causes her to tear and friction-burn entire patches of her skin off. As she doesn't feel any pain from this - even once the flesh is entirely exposed - she doesn't learn that she shouldn't do it. As a result of this, she is very badly scarred already. She had an experimental drug trial of Thalidomide, which didn't seem to make much of a difference ... until we stopped it! It became very obvious that it had actually made a significant improvement to her overall health, in a roundabout way, and reduced the itching, by reducing the excessive sweating that is also part of her condition. Within a few days of coming off it, she was miserable, drenched in sweat, and tearing herself apart again. She had multiple wounds which became infected very quickly due to the excess sweating in them, and she tore off any areas of skin she could easily access. A few days after being back on it, she was much more settled again, and she has been on it ever since. We are about to trial her off of it again, after her being on a different drug for a few months now, and seeming fairly stable. Time will tell how that goes...

Alyssa does not react to things which you or I would find painful - such as being cut, bitten, or fracturing a bone ... but she reacts to heat and cold sensations as if they were excruciatingly painful! When she fractured her L leg at 4 years old, we didn't even know for a couple of days, because she continued to walk about on it, happily. The orthopaedic doctor was stunned to see her wander about on a leg which he discoved was broken, but scream when he tried to touch her ... because his hands were cold! His face was a picture. One we have seen many times since then! My girl is pretty unique!

Anything which you or I would find simply 'cool' or 'warm' will be either freezing or burning to Alyssa. And you do not realise how many things have a 'temperature' until you have a child who reacts to almost everything touching her skin. Almost everything which isn't fabric is an issue for her, which causes a great deal of distress and difficulty in day-to-day life.

For those researching pain insensitivity ...

The pain disorders can be very confusing, and even those of the recognised syndromes have many different names.
For those people (and to help my page be found via search engines so I may in time find others for future contact) I shall list the many searched terms:

HSAN - Hereditary Sensory Autonomic Neuropathy
CIPA - Congenital Insensitivity to Pain with Anhidrosis
Congenital Indifference to Pain
Congenital Analgia
Congenital Analgesia

There are - of course - many others, but those are the most commonly searched terms. The rest are usually only used by the medical community and they generally use HSAN too.

Understanding Alyssa ... and Pain Insensitivity - Life Through Her Eyes

Welcome to Alyssa's blog ...

Self-injuries to date:

Monday, 3 August 2009

Finally heard ....

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For those researching pain insensitivity ...

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