YAY! IT"S A PEDIGREE!!!

Ah, Blog world, I thought you might enjoy the above visual. That's right, it's a pedigree!! After much research, I was able to compose a pedigree showing the history of Usher's Syndrome in my family. It all started back with my grandparents. My Grandma on my dad's side is a carrier of Usher's, and so is my Grandfather on my mother's side. This makes them both carriers, Usher's syndrome being an autosomal-recessive trait. This leads to me, that little black circle in the FII generation, who unfortunately inherited both the recessive alleles from my parents. My siblings are luckier, my younger brother is a carrier while my older brother is not affected at all!!! Using a punnet square, if my parents were to have another child it would have a 25% chance of not being affected, a 50% chance of being a carrier, and a 25% chance to inherit Usher's. No matter who my unaffected  brother marries, none of his children will be affected by Usher's although some could be carriers, again, depending on who he marries. My younger brother could pass the syndrome on if he marries another affected individual, or a carrier. As for me, the only chance of my children not being affected is if I marry another completely unaffected man, though my kids would still ALL be carriers. This is all according to the punnet squares. A girl can dream, but realistically, I should probably not have kids before having my future husband get tested, if I  decide to have kids at all. No child should have to suffer from Usher's syndrome if I can prevent it.

MLA FOrMATTED SOURCES

1." Usher Syndrome ." National Institute on Deafness and Other Communication Disorders [NIDCD] . N.p., n.d. Web. 9 May 2011. <http://www.nidcd.nih.gov/health/hearing/usher.htm>.

2. "Facts about Usher's Syndrome." National eye institute. N.p., n.d. Web. 10 May 2011. <www.nei.nih.gov/health/ushers/ushers.asp#1 >.

3. "Usher syndrome ." Genetics Home Referance. N.p., n.d. Web. 10 May 2011. <ghr.nlm.nih.gov/condition/usher-syndrome >.

ARE THOSE SCIENTISTS WORKING???

Remember our sciency pals? The scientists and researchers of the world?
Wonder if they found a cure or treatment to Ushers?
Unfortunately there is not, although some suggest vitamin A supplements.
Mostly, scientists and doctors advise us to get help dealing with our disease such as hearing aides, cochlear implants, sign language, etc....
However, they are trying to pinpoint the exact genes that cause this condition, with hopes of catchong it earlier on.
GO SCIENTISTS!!

GENES! No, not the kind you wear.

So of course, my blogger friends, our fellow scientists back us up. In fact, they have determined exactly what gene causes Usher's syndrome.
Reading up on the sciency sites, they informed me that Usher's is caused when a mutated gene is inherited from both parents. So far, the are ELEVEN genes that cause Usher's:

• Type 1 Usher syndrome: MY07A, USH1C, CDH23, PCHD15, SANS
• Type 2 Usher syndrome: USH2A, VLGR1, WHRN
• Type 3 Usher syndrome: USH3A

Since these genes are so widespread, tested for these genes are not normally conducted. Some of the latest research in New York and Israel pinpoints a certain mutation, called R245X, found on the PCHD15 gene in Ashkenazi Jews. Therefore, if you are an Ashkenazi Jew, you may be screen tested for the R245X mutation. Who knows where research can lead us in the future!!

Just to add in a quick factoid...

Symptoms do get worse with time, bloggers. If you want a repeat on how, just go to my earlier posts.
One cannot predict exactly how long it make take, and exactly how severe it may get, but by mid to late adulthood, you know that there won't be anymore changes.
I won't be completely gone, being with type 3 and all... but it is hard.
You just never know if one day you will get up to find that your symptoms just got way worse.

Erm.... what about my body?

I have decided to clarify, dear bloggers.
You may have asked yourself, but what ORGANS does Usher's affect?
Wow, really? If it wasn't obvious, I will explain anyway.
The first organ/ body part affected is your...... EAR (with all it's own inner function-able pieces).
What daily activities will I not be able to do, you may now wonder. If so then the answer to that one is HEAR and doing anything involving HEARING. Luckily, if you have type 2 or 3, you can get some help with that one from hearing aides. The type 1-ers aren't as lucky.
The second organ affected is your..... RETINA! What is a retina, you now want to know. Your retina is a light sensitive tissue in the back of you very own eyes, which allows you to see. To show how the retina is affected, I have another handy picture (this time with a caption!!!) I found on a website.

Photograph of the retina of a patient with Usher syndrome (left) compared to a normal retina (right). The optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, called bone spicules (double arrows).

Yes, that is what the inside of you eye looks like. Please don't tell me you are queasy. 

This affects the daily activity of seeing! This sometimes starts with peripheral vision disappearing. Some of us are completely blind, while others are legally blind, a bit less severe.

Lastly, Usher's affects balance.

What daily activities does this affect? I dunno, anything involving movement! Luckily, balance is something that we can work on fixing more quickly/ efficiently then the other symptoms.

Just in case you wanted to know what to expect from the doctor....

Did you know, oh blog world, that about 3-6 percent of all deaf kids have Usher's, in addition to another
3-6 percent of children with hard hearing. All in all, every 100,000 births produce 4 poor little babies with Usher's Syndrome... In case you were wondering, symptoms don't necessarily start the same time in all kids with Usher's. In fact, bloggers, there are THREE different types of Usher's syndrome. Babies born with type 1 Usher's Syndrome are born extremely deaf at birth and with severe balance problem,  usually unable to walk until they are 18 months old! These children begin having vision issues as they reach age 10, first starting with issues with night vision, slowly becoming more blind every day, until they are completly so. It is VERYYY important to seek these children help at an early age, to better help them with their issues (hearing aides do not help much for these individuals).
Type two kids are a bit different. Born with moderate to severe hearing loss, their balance is perfectly fine. They can communicate orally and also get help from hearing aides. Their vision loss is also more gradual then those with type one, showing up in the early teenager years.
Then you got type 3 Usher's syndrome, just like mine. We type 3-ers are born with normal hearing, and near perfect balance (which can later turn more severe). I start losing my hearing in the teens (pretty much right now), and have to rely on hearing aides as I enter my adulthood. Any issues with night vision appear after puberty, then followed by blind spots in my teenage years. By mid adulthood, I will be legally blind.
On a less somber note I have another chart for those of you who liked last entry's helpful picture.

	Type 1	Type 2	Type 3
Hearing	Profound deafness in both ears from birth	Moderate to severe hearing loss from birth	Normal at birth; progressive loss in childhood or early teens
Vision	Decreased night vision before age 10	Decreased night vision begins in late childhood or teens	Varies in severity; night vision problems often begin in teens
Vestibular  function (balance)	Balance problems from birth	Normal	Normal to near-normal, chance of later problems

 At this point you may wonder, how is Usher's syndrome diagnosed? Because Usher's syndrome affects hearing, balance and sight, usually a test or evaluation of these senses will give a Doctor enough information to diagnose. REMEMBER, it is realllly important to test your son, daughter, cousin, child at an EARLY stage, so tha they may get as much support as possible before the later effects of the syndrome settle in.