Rare Disease Day: With research possibilities are endless!

March 1, 2017 · by Ann Z · in idiopathic Ectopia Lentis. ·

Today, February 28 is Rare Disease Day. This is a day to raise awareness around rare diseases and the need for research. With only 5% of rare diseases having a cure, this means many patients are left with unanswered questions and doctors who are equally as puzzled as them! Research leads to new treatments, or in some cases even a cure, and most importantly hope.

“With research, possibilities are limitless!”

Graphic from the Mesothelioma Cancer Alliance, http://www.meothelioma.com. [visual description: graphic about Rare Disease Day with statistics: 95% of rare diseases do not have a single FDA approved drug treatment; 7,000 types of rare diseases in the world; 300 million people have a rare disease worldwide; 1 in 10 Americans life with a rare disease; 50% of people affected by rare diseases are children].

Rare Disease Day has special meaning here at Little Four Eyes, as many rare diseases impact children’s vision. Some examples include:

Usher Syndrome
Brown Syndrome (there’s an active comments section on our post about Brown Syndrome)
Lenz Microphthalmia Syndrome
Idiopathic Intracranial Hypertension
Retinitis Pigmentosa
Retinoblastoma (posts about retinoblastoma)
Bohring-Opitz Syndrome (post about Bohring-Opitz Syndrome)
Isolated Ectopia Lentis (see story below, and other posts about Ectopia Lentis)

…and many, many more. And as a librarian, the theme of research leading to new treatments really speaks to me. If you have a child with a rare disease, please share your story and help us raise awareness.

Isolated Ectopia Lentis: Drew and Marin’s rare disease story

(shared by Jessica)

Both of my children (Drew who is 5.5 and Marin who just turned 3) have Isolated Ectopia Lentis. Drew also has misplaced pupils.

Ectopia Lentis can often be associated with syndromes that affect connective tissue such as Marfran’s, but for it to be isolated because of a mutation of AdamTSL4 is extremely rare – there are less than 100 documented cases.

We struggled to find the right correction for Drew until he could do an acuity test at 3.5. Everyone agreed he would be looking through his glasses, but he was choosing to look below them (he went from a prescription of -9.00 and -10.00 to an prescription of +13.50 and +14.75.

[visual description: a boy and girl in glasses on a bus, both wearing jackets, rain boots and big smiles]

Since we got the prescription correct, Drew hasn’t looked back. He went from 20/200 and 20/300 to 20/40 in both eyes and he’s a normal, awesome kindergartner.

Marin has been in glasses since 8 months and has had no issues wearing them.

Many thanks to Jessica for sharing her children’s story, and thank you to Emily at Mesothelioma Cancer Alliance for the graphic and information about Rare Disease Day.