Saturday, August 1, 2015

Help: My doctor said my child had a rare condition! Where do I find information?

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It’s hard enough on family caregivers when their child receives a new diagnosis.  The challenge is made even more difficult when the condition is rare.

What are rare disorders?

Rare disorders affect only a small number of individuals.  It may be daunting for family caregivers to try to find information that’s scarce.  There are many websites for health conditions, but not a lot that cover rare conditions. 

Where is reputable information available? 

Ø  If parents find out that their child has an unusual condition, there is good information available from the National Institutes of Health. 

Ø  The National Organization for Rare Disorders has a searchable database.   

Ø  For chromosomal disorders, there are descriptions of genetic testing and conditions available from Unique.

A Note on Genetics 

There are many good resources available and parents may feel relieved if the child’s symptoms finally “have a name.”  If it does turn out to be a genetic condition, other resources (besides Unique listed above) can be helpful:
·         Explaining the basics of what genetics means for families is Genes in Life.   
·         The Genetic Alliance has various resources, including “Children and Youth with Special Healthcare Needs in Healthy People 2020: A Consumer Perspective.”  
·         There is even information regarding children with developmental or other disabilities who need organ transplants available from the Boggs Center.

A Final Word on Support
      Sometimes family caregivers need to talk to another parent “who has been there.”  Many of the disability specific organizations may have support groups or match parents.  An excellent resource that matches trained volunteer parents to families of children with the same or similar condition is Parent-to-Parent.

Family caregivers won’t feel so helpless or hopeless if they find out information on their child’s condition and learn how to handle it.  If parents know what to expect, they can take better care of their child, resulting in better health outcomes for their child. 
National Institutes of Health-Rare Diseases
National Organization for Rare Disorders
Boggs Center-transplants and disability


Unique-chromosomal disorders

Genes in Life
Genetic Alliance

Remain Hopeful,

     Lauren Agoratus is a parent/advocate who works for the Statewide Parent Advocacy Network and serves as the NJ Coordinator for Family Voices (, a national network that works to “keep families at the center of children’s healthcare” at or FB  She also serves as NJ representative supporting caregivers across the lifespan for the Caregiver Action Network (formerly National Family Caregivers Association) in a volunteer capacity at or FB


Sunday, July 12, 2015

The Umbrella Kid

Well they do say when it rains it pours.  In my house umbrellas aren't just for preventing rain from soaking you.  We live under the umbrella of diagnoses in our home.  It's part of the joys of living with a medically complex kiddo.

Cary Lynn is a medical enigma.  She delights in 3 am solos, her stuffed animals, and keeping doctors scratching their heads.

An umbrella diagnosis is where they take a whole bunch of problems, group them all together, and say voila!!  Here you go, take a whack a doodle at that!  I kid you not.  I sometimes think the way they come up with these things involve a dart board, stiff rounds of expensive scotch, and a parker brother's Ouija board.  They sit together, take some shots, consult the position of the stars, and make lots of notes in Latin so it looks like they know what they are talking about.  Then they have meetings, press conferences, and write it down in big medical journals.  Which are passed on to doctors and nurses who present the information to us while they try to look like they perfectly understand what is going on with my child.

Cary Lynn has many, many, many diagnoses.  I kid you not.  Last time her chart was updated she was up to 30.  Some are little and frankly not worth the space they take up on paper.  But some are bigger.

Three of her biggies are umbrella diagnoses.  Cerebral Palsy is considered an umbrella diagnosis.  CP is a large disability category.   For some people in the CP umbrella the only trace of it you see is they hold a pencil a little funny.  On the other end of the umbrella you have children like my daughter who cannot roll, sit, or do a lot independently.

The other one is CVI.  This one is also a big big umbrella.  From children who function so well visually that you would never know to children who are very visually impaired.  Cary Lynn falls right about in the middle of this one.

The last one is a new diagnosis that we just got official confirmation of last week.  Dysautonomia. It's a big word, but once again I'm stuck in umbrella land.  If you look up the definition you will even see in several places that it is defined as an umbrella term where the autonomic nervous system malfunctions.  It can range from mild issues like gi track problems to Parkinson's disease.  I sat down with neurology and had a very long and fun filled round of what type might Cary Lynn have. Because there is a really big difference.  There is the kind that you treat the symptoms and go on slogging or there is progressive.  In the case of the latter it's not a good prognosis.  At this point the medical community is still consulting the dartboard and the Ouija to figure out what category Cary Lynn is in.

I hate being grumpy and disgruntled.  But in a way I really am.  To me an umbrella diagnosis isn't a real diagnosis.  I am the type of person who really wants a clear cut answer.  So I know what to do to fix or at least stabilize the problem.  Instead I get a lot of running around the bush and unhelpful handouts.  And the run of the mill advice like, keep doing therapy.  To me that is the equivalent of patting a small child on the head and sending them off with a lolly pop in hopes that they have pacified the child and made them forget the problem at large.  So it makes me kind of mad that the same old tired things keep getting trotted out.

But the other part of me knows that they really don't know.  Cary Lynn lived.  She defied medical odds at 24 weeks.  She defied medical odds when she first came to live with us.  Every day she lives she defies another odd.  Everything that she does that they told me she would never do.  From the day she grabbed a toy to the day she took simple steps with support she continues to remind me that I dwell with a miracle.  The doctors are by and large clueless about my child and so many other children like her.

So while I'm not overly thrilled that I have to endure another umbrella diagnosis and I'm not going to give up hope that someday we may have better answers than darts and scotch can provide I'm going to take it one day at a time and watch my little odd buster continue to blaze new trails and set the world on fire.

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Amy Fields is a wife, mother of two special needs kids, and very late putting a post up!  You can follow her on her blog Many Kinds of Families

Wednesday, July 1, 2015

My Child Just Got Diagnosed-Now What?

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Part 1 of 2
Family caregivers need both information and support when their child is diagnosed with a new condition.  There are many reputable resources for parents of child with special needs. 
Good places to start (see Resources) 
v  There is an annual resource guide from Exceptional Parent magazine that lists all the national organizations for specific conditions. 
v   The Maternal & Child Health Bureau (MCHB) has “Knowledge Paths” on some conditions for more detailed information including research, databases, literature etc.   
v  The Parent Center Hub is the new home for information formerly from NICHCY (National Dissemination Center for Children with Disabilities.) 
v  The Statewide Parent Advocacy Network (SPAN) has a fact sheet on what to do while waiting for the school’s special education evaluation.
Other good resources on specific conditions           

Ø  Health A-Z – Health Central

Ø  Health Conditions - WebMD

Ø  Health Finder

Ø  American Academy of Pediatrics-information for families

Ø  Health Topics  – Medline Plus

            Developmental Disabilities – Medline Plus   

            Disabilities - Medline Plus

For Kids Only 

Kids Health has information for families but also for children.  Using this type of information may make it easier for parents to explain the condition to their children.

Support for Family Caregivers 
Parent may also want to talk to another parent who has already gone through the same experience.  Trained volunteers are matched with family caregivers of children with the same condition through Parent-to-Parent.  The American Self-Help Clearinghouse also has a listing of support groups nationally. 

Family caregivers will feel more empowered once they know more about their child’s condition.   
NOTE:  Part 2 will cover rare conditions and where to find reliable information. 
Exceptional Parent magazine-annual resource guide
Knowledge Paths-MCHB resources for families
Parent Center Hub-specific disabilities
Statewide Parent Advocacy Network Fact Sheet
Kids Health
Support Groups
Remain Hopeful,
Lauren Agoratus is a parent/advocate who works for the Statewide Parent Advocacy Network and serves as the NJ Coordinator for Family Voices (, a national network that works to “keep families at the center of children’s healthcare” at or FB  She also serves as NJ representative supporting caregivers across the lifespan for the Caregiver Action Network (formerly National Family Caregivers Association) in a volunteer capacity at or FB