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”.

Accidental Researchers

I’m sitting here with my coffee, trying to wake up after a night of not sleeping well. Five tabs of medical publications and one tab for “dictionary.com”. This morning, I’m working on several different writing projects, the most difficult being the simplified-language medical research paper I’ve been pondering for several weeks, the easiest being Melora’s intro letter to the preschool teachers and therapists for this school year. And there’s this blog post, obviously!

We never wanted to be medical researchers. As children, “advocate” was never on our lists of future careers (not that it’s actually a paid career!) Yet, poring over medical journals and understanding terminology we’d never seen before is becoming the new normal. Learning the science of genetics, neurodevelopment, and futuristic medical treatments is what we do now. Our cause is “cutting-edge” and “groundbreaking”, terms we used to be impressed by, but are now disappointed by. It would be so much more comforting to just be able to get all the info and support we need from the nurse at the doctor’s office.

waitingroom

But, when all you can find is techno-babble and you know there must be others like you, there is no choice but to “trail-blaze”. Our search for families of people diagnosed with Wieacker-Wolff Syndrome has taken us from the United States to Europe. This being the case, we are considering learning languages other than the one we already know. That is, in addition to the languages of genetic medicine, internet navigation, data compilation/distribution, advocacy, corporate communication, blog-writing, etc etc, I could go on for days.

In becoming accidental researchers, we’ve learned a few things. For one, medical providers are great (usually. Ours have all been pretty great, anyway), but they don’t know everything. With Melora, we have to be prepared to share our knowledge with them. All patients should try to be knowledgeable about their own health. Any good provider will want to be as informed as possible and will want to know everything they can about your medical condition. Although it is a bit unexpected to have a healthcare professional say they’ve never heard of your illness, it is reassuring when they admit it and ask for more info. There’s nothing like a specialist telling you, “I have more studying to do”!

In addition to our evolving relationships with doctors, we’ve learned that even though there are 7,000 different diseases that are classified as rare, all the people with rare disease have certain things in common. They, and their families and caregivers, must become experts on their condition. They will likely become researchers themselves and develop a sense of community in their support groups. Even in a single rare disease, any two people with the same diagnosis can have similarities that define their situation, but also differences that make their experience unique.

Furthermore, gathering, compiling, and providing data to the public in a reader-friendly manner is a job that is quite underrated. Non-fiction and technical writing require educating oneself on the subject, and related topics, completely. Between that and the actual writing, it’s a lot of work!

In the long run, we’re glad for the technology available to us that makes all our research possible. We value the opportunity to share what we learn. We appreciate the futuristic devices that will make our child’s life easier as she gets older and the possibility that scientific advances could greatly improve her outcomes. Then there’s the increasing public acceptance of individuals with differences and disabilities. Enlightenment and compassion are what drive us to unearth and disseminate every tiny piece of attainable data. The more we, as parents, know, the better our child’s quality of life. And if we can assist others by sharing, well, that’s a pretty fantastic bonus.

Thank you so much for reading.

What Melora Can’t Do (And What She Can)

There are a lot of things Melora can’t do on her own. She can’t walk or even put weight on her feet. She can’t crawl or even get to a hands-and-knees position. She can’t roll around to get to a toy she wants.

20140426_125615

Melora has muscle weakness all over, from her large muscles to her tiny ones. She can’t coordinate her eye movements very well. She can’t talk or even make consonant sounds. She can’t chew or swallow foods that take too much work

Melora has autistic behavior. She can’t communicate with words. She can’t make consistent eye contact. It can be a lot of work to make her smile or even laugh.

Melora is a sweet little girl who loves her family. She can cuddle better than most people. She loves to laugh when people dance or act silly for her. She can work very hard practicing with communication devices to make herself understood.

Melora loves life and reminds us to live in the moment. She can appreciate the beauty of the trees when we take her for walks on the trails. She can enjoy her foods and try news ones quite willingly.

20150524_133815

Melora is enthusiastic about movement. She can rock on her rocking horse and go really fast. In the pool, she can have a blast floating, splashing, kicking. She can view the world in a different way when we hold her upside-down.

There are a lot of essential things Melora can’t do, which causes us to worry about her future. But there are a lot of very important things she CAN do. She can make strangers smile uncontrollably as they walk by. She can keep us on our toes and prevent us getting stuck in a routine. She can make us laugh with her adorable sneeze and baby-doll expression.

When you do the math, the things Melora can do tower over the things she can’t. Of course, the hardest thing is to not hear her words, but we know they’re there. We just need to learn her language. And we’re getting there. One day at a time, one hour at a time, sometimes one minute at a time.

Being Unique…

Most people, I’m sure, have been in situations where they don’t quite feel like they fit in. But how do you deal with not fitting in anywhere? When even the specialists are baffled, like an archaeologist who just found evidence of a prehistoric, pink and purple, polka-dotted flying frog?

It’s often hard to remember that others also have experiences like this. But once in a while we see reminders, like a recent article at themighty.com:

“When You Feel Like a Wallflower in a Special Needs Community”

And, in response, here’s our view.

Melora has joint contractures (#arthrogryposis), but they’re pretty mild and she’s been labeled “functional”. So she doesn’t really fit in with the others with arthrogryposis who have fifteen surgeries in their first year of life, but can speak and do most things everyone else does.

She doesn’t talk, even a little, no consonant sounds at all. But she doesn’t really fit in with the “nonverbal” crowd who find other ways of communicating and can run and play with the other kids.

She doesn’t really fit in with the other intellectually disabled kids who still make eye contact and smile for the camera.

She doesn’t really fit in with the kids who have cerebral palsy; she doesn’t have involuntary movement or spasms and, again, can’t speak at all.

We’ve found syndromes similar to hers (Rett Syndrome, Angelman Syndrome, Mosaic Down Syndrome), but they’re slightly different so we can’t just walk in to a support group and say “Hey, we belong here”. We’re just out-of-sync enough to be one tiny step to the side of everyone else’s reality.

So, how does a family deal with being so very unique? We try every day to remember that Melora is our sweet, unique little bundle of living proof that we’re all the different but the still same. ALL PEOPLE must always remember that our differences don’t have to separate us; they can teach us and help us be more compassionate.

Hugs, and thank you for reading.

Hello world!

Melora was born in 2011. She spent two weeks in the NICU because she had a lot of trouble feeding and her ability to breathe on her own was questionable. She was evaluated by an orthopedic surgeon and a geneticist for “multiple dysmorphic features”; she has mild joint contractures in her hands and feet (distal arthrogryposis) and limited flexibility in her knees and hips. After she came home, we started early intervention services. She’s been in occupational, speech, and physical therapies since she was 4 months old. Melora has always had a lot of muscle weakness (hypotonia), causing delays in her physical development. Her small muscles are also affected, causing eye-muscle weakness (for which she wears glasses) and feeding difficulties (we have to choose her foods carefully so she doesn’t choke on them). Her level of intellectual disability is hard to determine due to apraxia of speech (she can’t talk).

We’ve been seeing her geneticist since she was born, trying to find the cause of her difficulties and differences. After previous testing failed to provide answers, we got a whole exome sequencing and found (after almost four years) that Melora has a mutation in the gene “ZC4H2” (XQ11.1). Mutations in this gene are the cause of Wieacker-Wolff Syndrome (aka Wieacker Syndrome or WWS). Simply put, ZC4H2 helps with nervous system development and the creation of neurolomuscular connections. In other words, Melora’s brain has trouble telling her body what to do. And her joint contractures were caused by minimal prenatal movement (she got stuck because she couldn’t move).

While Melora’s specific mutation hasn’t been seen before, WWS is itself almost as rare. With “fewer than 30 affected individuals” (Orpha.net), it would be impossible for us to come up with a prognosis. Her future is very uncertain. Her neurologist says she will likely start having seizures at some point, but there’s no way to know how soon. We don’t know whether she’ll get better or worse since we currently have no others to compare her to. We hope, with this page, to find others like her and raise awareness for rare disease in general. And maybe if treatments or a cure are found for another rare disease, it could possibly help Melora.

Websites that have helpful information:

http://www.malacards.org/card/wieacker_wolf_syndrome

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

http://rarediseases.info.nih.gov/gard/7890/wieacker-syndrome/resources/9
https://rarediseases.org/rare-diseases/wieacker-syndrome/

This article is one of two studies that we’ve found online:
http://www.sciencedirect.com/science/article/pii/S0002929713001298