Wieacker-Wolff Syndrome Resources

For those interested in our resource list, I’ve decided to put it all together in a blog post. Some of it seems redundant, but there are little things that are unique to each one and some are just easier to read than others.

MISC DISABILITY

WWW.CTDINSTITUTE.ORG

Center on Technology and Disability

Information on assistive technology for students; free webinars; resource library for parents of disabled students; if you create an account you can access classes; they also have a YouTube channel (linked at the bottom of their page)

http:/parentingspecialneeds.org

“Sharing information and inspiration”

An online magazine and website with special needs parenting information

www.amcsupport.org

Support and information about arthrogryposis multiplex congenita (congenital joint contractures)

www.211.org

Phone number and website (United States). Resources for information and assistance in a wide range of catagories, including: Disaster assistance, Housing/Utilities, Health, Food, Crisis, Jobs, etc

GENETICS / RARE DISEASE

www.eurordis.org

Information and educational materials relevant to rare disease

www.geneticalliance.org

Information on advocacy and understanding genetics and genetic conditions on their website, their YouTube channel, online publications, and webinars

www.geneticandrarediseasenetwork.org/au

In Western Australia, information and resources for advocacy and understanding genetic conditions and rare disease; resources for families, caregivers, and healthcare professionals

www.genome.gov

Genomics news and information for patients, students, and professionals

www.globalgenes.org

“We build awareness, educate the global community, and provide critical connections and resources that equip advocates to become activists for their disease.”

http://www.ncats.nih.gov/grdr

Discusses development of a centralized data hub for rare disease. Includes explanation of their terminology and a FAQ section

www.orpha.net

Lots of rare disease and orphan drug resources, information, and directories

www.rareconnect.org

A collection of rare-disease communities. WWS not yet included

www.rarediseaseday.org and

www.rarediseaseday.us

For rare disease advocacy and awareness; includes resource page for videos, fact sheets, handouts, social media content, etc

https://rarediseases.info.nih.gov

Genetics and rare disease resources, support, and research information

www.rarediseases.org

Rare disease database, advocacy resources, news

www.rarediseasesnetwork.org

Information on research, advocacy

http://rarediseaseunited.org

Rare Disease United Foundation

Genetics and rare disease advocacy and resources

www.raredr.com

Rare Disease Report

Genetics and rare disease news through publications, newsletter, on-website, YouTube

http://raregenomics.org/how-we-can-help

Assists with obtaining genomic sequencing and scientific consulting; on-website podcasts about genetics and rare disease

www.irdirc.org

International Rare Diseases Research Consortium

Rare disease research projects and clinical trials

UNDIAGNOSED

www.genome.gov/27544402

The national Institutes of Health (NIH) Undiagnosed Diseases Program (UDP)

Undiagnosed patients may apply to participate in clinical research program

http://inod.org

“In Need Of Diagnosis, Inc. (INOD) advocates for increased accuracy and timeliness of diagnoses and is a resource center for those who suffer with illnesses that have eluded diagnosis.”

www.undiagnosed-usa.org

“Syndromes Without A Name USA (SWAN USA) is a non-profit tax exempt organization that offers support, information and advice to families of children living with a syndrome without a name.”

https://rarediseases.info.nih.gov/gard/pages/24/tips-for-the-undiagnosed

Genetics and rare disease resources and support for patients families

WIEACKER-WOLFF SYNDROME / ZC4H2

http://www.genecards.org/cgi-bin/carddisp.pl?gene=zc4h2

http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=24931

http://ghr.nlm.nih.gov/gene/zc42

http://www.malacardsorg/card/wieacker_wolff_syndrome

http://www.ncbi.nlm.nih.gov/gene/55906

http://www.ncbi.nlm.nih.gov/gtr/conditions/c0796200/

http://neuromuscular.wustl.edu/msys/contract.html#lccs

http://www.omim.org/entry/300897

http://www.omim.org/entry/314580

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3454

https://rarediseases.info.nih.gov/gard/7890/wieacker-syndrome/resources/1

http://uswest.ensemble.org/Homo_sapeins/Gene/Summary?db=core:g=ENSG00000126970:r=X:64915802-65034713

RESEARCH ARTICLES related to WWS or ZC4H2

2011 – A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.

http://www.ncbi.nlm.nih.gov/pubmed/21668950

2013 – Genes That Escape X-Inactivation in Humans Have High Intraspecific Variability in Expression, Are Associated with Mental Impairment but Are Not Slow Evolving

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840307/

2013 – Cause of genetic disease discovered

http://www.molgen.mpg.de/283168/news_publication_7242146

2015 – Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332666

RESEARCH ARTICLES specific to WWS / ZC4H2

1985 – A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.  (abstract only, full article not available for free)

http://www.ncbinlm.nih.gov/pubmed/4039531

1987 – Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq   (abstract only, full article not available for free)

http://www.ncbi.nlm.nih.gov/pubmed/2890303

1997 – Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome   (abstract only, full article not available for free)

http://www.ncbi.nlm.nih.gov/pubmed/9272167

2013 – ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

http://www.ncbi.nlm.nih.gov/pubmed/23623388

2015 – ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

http://www.ncbi.nlm.nih.gov/pubmed/26056227

http://hmg.oxfordjournals.org/content/24/17/4848

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14 Steps to Living in Our Shoes

As the article 19 Examples of Ability Privilege from Everyday Feminism points out, it is a good thing to be aware of one’s privilege and appreciate it. This awareness can help create compassion toward the needs of others. We can all be a little more patient with those whose needs exceed our own and help create equal opportunity where it may be lacking.

Not all of the examples in the Everyday Feminism article refer to things we experience with Melora, and some of them never will. But you might get a little taste of what we do on a regular basis if you:

20140924_0853131) get a big stroller and weight it down so it totals about 50 pounds (you will never be able to use stairs or fit into small shops with this thing);
2) pack everything you might possibly need for 2 days away from home, every time you go anywhere;
3) put a 35-pound disabled puppy in the stroller, wearing a diaper that needs changed every 3 hours (btw, there are no changing tables for puppies so good luck there);

(Disclaimer: I am not calling my beautiful little girl a dog. But she is just cute and sweet, like puppies are. And adopting a puppy is something a lot of people can relate to or have at least heard about.)

4) try to explain to people who don’t understand that your puppy can’t talk;
5) keep puppy happy and entertained and try to understand what she wants by her facial expressions, because if you don’t she will howl, especially when you’re trying to talk to someone;
6) help your puppy move and stretch several times per day, move her often;
7)try to explain to people who don’t understand that you’re not forcing your puppy to stay in the stroller, she really cannot move on their own and if you took her out of the stroller she would just lay on the ground;
8) try not to look too upset when you see other puppies playing with toys and playground equipment that is meant for typically-developing puppies.

~~Bonus round:
9) don’t expect to sleep more than 3 hours in a row at night because puppy can’t rearrange herself to get comfortable, so you have to help at least once every night;
10) remember to double-check her food to make sure it’s soft enough and cut small enough to not cause choking since your puppy has swallowing issues;
11) pay more than you should (or can really afford) for rent so you can live in a house that’s not too difficult to move her around in and is big enough for all her equipment;
12) worry often about the future and how you’ll care for her when you need help caring for yourself, and then how your puppy will live without you, or worse, how you’ll survive if you out-live your puppy;
13) skip events and activities because you can’t find a babysitter who can handle your puppy and the event/activity is incompatible with your puppy’s schedule and/or needs. And don’t even think about air travel;
14) love your puppy more than you can say because she is more than worth all the effort.

We try to have a good sense of humor, especially about things that can be hard to deal with. I don’t expect anybody to go out and adopt a disabled puppy to see things through our eyes. But if you did I’m sure you would get the best cuddles ever, just like we do, because words aren’t always required to say “I love you”.