Posts filed under: ‘rare genetic disorder‘




Usher Syndrome

Information about Usher Syndromes. You want to know what is that mean. I am giving you the links.

Usher Syndrome

Information About Usher Syndrome

Night Blindness:

* Can’t see when coming in from bright sunlight
* Trips over things when light changes or light is dim
* Stays near a light in a dark room or at night
* Moves a speaker so light falls on face
* May express a desire to enter a room before it is darkened (movie theater, etc.)
* Avoids conversations in a darkened area
* When walking along a road at night, may appear to stagger or lose balance after an oncoming car has passed
* Has problems reading under some lights or in dimly lit areas

Glare sensitive:

* Squints and shades eyes in bright lights or fluorescent lighting – complains that the light hurts his/her eyes
* Likes to wear sunglasses even in buildings, but especially in bright sunlight
* Avoids participating in outdoor sports when the sun is very bright
* May appear awkward when exiting from the inside to the outside of a building (when faced with bright light)

Needs contrast:

* Has difficulty reading light copies or ditto copies
* Often spills when pouring liquids
* Can’t see stars at night

Restricted field:

* Startles easily
* Seems to hold eyes in a different direction when looking at some things (because of islands of vision)
* Turns head while reading across a page
* Uses finger to mark place while reading
* Can’t find small objects that have been dropped
* Fails to glance at another person’s handwaving from the side
* Bumps into people, tables, and chairs
* Stumbles on stairs and curbs
* Is quiet in a large group or may edge him/herself to one side when placed in a group
* Frequently fails to understand or misses groups instruction. Often relies on friends for information
* May appear to ignore others standing by his/ her side
* Prefers conversation at distances of 4 to 6 ft.

Problems with visual acuity:

* Holds book close to eyes, or bends to read
* Places face close to desk while writing
* Sits near blackboard

Balance problems:

* Can’t ride a bicycle
* Is considered clumsy
* Loses balance easily in the dark

Other:

* Frequently last in completing group activities
* Exhibits symptoms of anxiousness in new areas
* Often last to enter the room
* May have some repetitive behavior (seems to do the same things in the same ways, or continues to order the same things at lunch)
* May choose to stay home alone rather than be faced with the embarrassment of dealing with a new situation in the dark
* May appear unconcerned and may fail to fully participate in groups activities
* Frequently hesitates at the top or bottom of stairs (for orientation)
* Avoids walking or running in unfamiliar areas, especially when there is bright sunlight or when in a darkened area
* Appears to be constantly visually scanning a group

Hearing Loss in Usher Syndrome
Type l

* Children are born profoundly deaf or with just a little hearing in the low tones at loud levels of sound.
* Most but not all state that hearing aids help only a little or not at all.
* Some young children are showing benefit from cochlear implants.

The list is exactly what I was doing in the past. That is why my choice was a cochlear implant to hear. This helps my balance and I hear better. I plan to get bilateral cochlear implants after my childbirth.

My goal for Retinitis Pigmentosa can be treatment by stem cell research or retinal implant. Because I don’t want to get blind in the future and I admit that I don’t want to learn braille. I am so shy. I am still taking an Eye Vitamin supplements from Ocuvite® Lutein Eye Vitamin and Mineral Supplements . This is helping me postpone the blindness til late 40’s to 70’s. Now, I can’t take this supplement during pregnancy. That’s not good for my baby. I am taking a prenatal with DHA and Omega-3. The DHA with Omega-3 is helping promote health in our brains and eyes. After my childbirth I will take my preservision Eyes vitamin supplements again. I will never give it up.

Add a comment January 29, 2010

Early Life

I was born with Ushers Syndrome – a rare genetic disorder involving a profound loss of hearing, balance and vision problems.  I was diagnosed with the hearing loss at 18 months old.   I started wearing hearing aids by 2 years old and started going to school soon after that.

By age 3 I was miserable because I could not communicate.  My dad and mom talked to my teacher and they decided I needed sign language.   I learned very quickly to communicate with SEE “Sign Exact English”.   I attended to Pre-School for hearing impaired.

I started to learn ASL at age 10 half years old at deaf school.    I learned very quickly to communicate with ASL.  After my dad died of cancer until 5 months before I was diagnosed at 15 half years old with Retinitis Pigmentosa and that also meant Usher’s Syndrome.    I will not able to drive.  I became angry and depress.  My dad never know that I have it.

I will update my story about Usher’s Syndrome when I was in deaf school.   It was the worse memories ever I had.  The post is coming soon.

1 comment June 28, 2009

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