Sunday, June 5, 2022

The Danger of Step Therapy/ Interventions

There is a method to starting treatments, often seen in schools and insurance companies, to make sure that their resources are being used wisely. This is sometimes referred to as Step Therapy. 

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An insurance company, for example, will not cover medications unless the patient tries the cheaper options first. This is intended to save money for both the company and the patient.

Schools use a similar technique. They do not offer intervention until the child has demonstrated a significant need (fails), with their reason being that if the child doesn't show a need for these additional services, it would be an unwise use of resources to shower anyone who asks with them. 

Mary Opinion Time: The Step Therapy technique started out with good intentions. This model is designed to save costs for everyone involved, and get high level help to the few who truly need it. And honestly, for someone who is as boring, medically-speaking, as I am, it works out just fine. However, there are significant flaws in this protocol for the "zebra population", and I want to review why this model may not be beneficial, particularly for patients with rare diseases and students with more severe developmental disabilities. 

(Note: Zebra in the medical community refers to a patient who has a rare disease. The story goes that if you hear hooves behind you, everyone will assume it is a horse. But sometimes, it is a zebra. We are the zebras)

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Our Seizure Medication Story

When my daughter Chelsea was almost five years old, she was diagnosed with a seizure disorder. I went down to the neurologist, and they prescribed a seizure control medication. Perfect! I thought, and off I went to the pharmacy to get it filled.

Turns out that the medication they put her on mildly controlled the seizures (and we were grateful for the improvement, though it didn't control them fully), but also came with the side effect of loss of bladder control. After about 6 months of ripping my hair out trying to figure out why I was having zero success in potty training my child (IDD aside, that is), I went back to the neurologist. 

They put her on a new medication, but we didn't last long on that one, as she broke out into painful hives all over her body.

Cue medication number 3! This one controlled the seizures well, but came with the side effect of violent outbursts and aggressive behavior. We were told that those were the three medications our insurance would cover, so we had to choose- loss of bladder control, painful hives, or violent tendencies. Or do none and have more seizures. 

Oh goodie, right? We ended up going with the violent tendencies drug, as Chelsea is tiny and was still easily manageable during aggressive episodes. As long as I worked out, I could handle her, though it broke my heart to see her angry and miserable. 

Later, we moved and got a new neurologist. They recommended for us to trial a different, higher-level, drug when I explained our concerns. We got Chelsea on the medication, and saw an INSTANT improvement. ALL of the side effects vanished, and her seizures were controlled perfectly. She was back to our happy girl.

Now, here comes the kicker. Insurance REFUSED to pay for any of it (after appeals and everything) because cheaper options were available, and the medication cost close to $1,100 every month. Not only would insurance not help with the costs, they wouldn't even count it toward our deductible/ out of pocket max because it "wasn't approved." 

THIS is the danger of Step Therapy. 

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Let's move on now to how this looks in the public school system. For an easy example, let's look at a common problem with Extended School Year (summer school) for a child with developmental disabilities. 

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The scenario:
Suzy, 10 years old, has moderate Intellectual Disability, cannot read or write, cannot count beyond 10, but is a cheerful girl who is well-behaved in school and gets along with her peers. Her parents, concerned that she is not making any progress, contacts the school to look into summer school. The school replies that Suzy did not regress at any point during the school year, and that they only offer services to children after they fail/ regress significantly. 

I have worked with families for YEARS, and I cannot even describe how often this scenario plays out in real life. I would guess more than 90% of the time.

Why is that an issue? Let's examine the performance of the child who IS offered summer school. Tommy is also 10 years old, but over Christmas break, forgot how to multiply two digit numbers, and failed the next six weeks of math. He gets summer school because he regressed, and the school exclaims that they need to get him back up to where he was performing before. 

Wait a second! Suzy never had multiplication skills to begin with, so why is another child being offered help when she was denied services?? 

Welcome to one of the many injustices of Special Education. The school will not step in until the child fails. Suzy's goals are designed so that she can easily succeed, so she does not fail anything. 

I do not say this to be unkind or judgmental toward teachers. They are overworked and underpaid, and want their students to be successful. The schools are underfunded, service availability is limited... It boils down to dollars. No administration wants to pay for extras unless they are mandated by the state. Often, if a child's IEP goals are not aggressive, it is easy for them to "pass" their classes, showing that they are making progress.

The issue I have with this methodology is that students who need habilitation services are denied when students in need of RE-habilitative services are approved. They BOTH need the help! There are a plethora of other examples in the public school systems in America, but I will leave that for another day. 

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So What Do We Do?

Now that we know the problem, what can WE as patients and patient advocates DO to change things? 

On the insurance part of things, it is essential that rare disease patients participate in the drug development process early on. One story that stuck with me was a patient I spoke with who had a severe, cyclical vomiting syndrome (I forget the exact diagnosis). She talked about how she worked with a drug company to participate in the development of a treatment for her condition. The created a medication that stopped the vomiting, but that caused chronic diarrhea. The company had planned on releasing the drug, but it wasn't until she got a group of patient advocates together and said no, that wasn't a good option from the patient perspective, that they revisited it.

What is important to insurance and drug development companies is not necessarily what is most important to the patients dealing with the disease/ disorder, and if we don't speak up, how will they know what is most important to us? What may be a minor side effect to insurance companies could be life altering for patients. 

I carry that same mentality into policymaking- if politicians never hear from us, they will assume that everything is working fine. So SPEAK UP! Your story is important! 

As for schools, that would be a series of blog posts on its own! But the bottom line is still the same- you need to be clear and concise in what you are asking for and what your child needs and why. Early diagnosis and effective treatment is crucial for the success of the patient! 


That basically covers it- a rough overview of Step Therapy and that dangers it presents to the rare disease population!

Thursday, April 21, 2022

Disability Book Week


I have talked several times about the importance of literacy with individuals with disabilities. This is a topic that means a LOT to me, so much so that... *drumroll* I began my own organization (working to become a non-profit) to promote disability inclusion in literature!

Think about it- can you name three books that YOU personally have read recently that included a character with a disability? 

Persons with disabilities make up more than 10% of our ENTIRE population, and yet are only represented in about 3% of books! That is a gross underrepresentation, and we need to change it!

So, let's get down to it- DISABILITY BOOK WEEK!!!

What is it? 

Disability Book Week is a virtual event in which we encourage people all over the world to participate by reading a book that either features a character with disabilities or else was written by an author with a disability. 

The purpose is to increase awareness of various disabilities and open the reader's eyes to a different way of viewing the world. When you read a book, you begin to identify with those characters and experience things with a unique perspective. 

Our team of 13 panelists and countless volunteers have combed through more than 100 books, secured proclamations across the nation, spoke on podcasts, and coordinated displays and author readings all over the United States. Join us and some of our partners by participating!

How Do I Participate?

It is easy! To participate, follow these steps: 

1. Follow Disability Book Week on Facebook or Instagram @Disability.Book.Week

2. Pick out a book (check out the recommended reading list on if you need suggestions)

3. Read that book and post a review on social media! Use the #DisabilityBookWeek when you post

Why Should I Leave Reviews? 

It is actually very difficult for authors to get exposure for their books, and a lot of that, especially for self-published authors, is because algorithms suppress books that don't have a lot of reviews. 

So yes, we always try and look for books that have lots of great reviews, but please remember the books that haven't "made it big" yet. Most self-published books get less than 20 reviews total.

How Does This Help The Disability Community? 

Ready for a staggering statistic? 80% of individuals with disabilities are unemployed or underemployed. THAT IS NOT OKAY! 

When you leave a review or post about a book you enjoyed, that is a free way that you are actively supporting the employment of individuals with disabilities! 

Being an author while diagnosed with a disability is a wonderful way to work at your own pace and bring a new perspective to the world that people need to hear! 

Remember to check out the website and follow us on social media

Wednesday, March 16, 2022

The MOST Effective Prep for School

 I cannot count the number of times parents have asked me what I recommend they do to prep their child for school/ learning to read. (Clarification: this advice intended for most kids ages 3-5)

The most common questions:

1. What program should I use to help my child learn to read?

2. What curriculum is most effective at teaching my child how to write?

3. What apps teach the alphabet/ numbers best?

And inevitably after I give my honest answer, people don't like my feedback and think I am a quack (maybe it is true). Parents tend to want answers like "If you do _______ program 15 minutes daily, your child is guaranteed to read by kindergarten!" or "The _____ curriculum is the best." 

When I tell them is:

1. Read to your child. Out loud and with enthusiasm for at LEAST half an hour a day, every day. 

2. Ditch the screens and go outside every day. 

3. Play with playdough, do scooters, and color with broken crayons

The Response I Always Get Back:

"Okay, yeah we can do that stuff too, but I mean- what REAL academic work should we do? I want my child to learn to read and write early to give them a head start!" to which I say- Don't make your child hate school before they even start.

How to Teach A Child to HATE School:

Step 1: Force a young child to sit and do boring seat work (usually a lot of worksheets, tracing, dull books that are high on words like "is" and "were" type of sight words)

Step 2: When child starts squirming, you take away recess/ free play/ outside time until they are finished their work

Step 3: Dissect each story when you read to your child 

Step 4: Stop reading to your child once they know how, or always make them read to you

My Reasoning

Let's break these down, and I will explain why I don't automatically answer with the name of a curriculum/ app, even though there are awesome ones out there!

Teaching reading- Your child could learn to decode words better than anyone else in the world, but if they don't get any pleasure out of reading, they won't do it and will learn to avoid it, which further reinforces the false idea that reading is not for them. What they need is to see YOU reading, hear you reading aloud, and having a plethora of books available all the time. Fall in love with reading books at your house. Real, tangible, paper books! 

The entire goal here is not to have a child that learns to read faster than anyone else. The goal is for them to love reading. If they love it, they will continue. Remember: it took me YEARS to teach my older daughter with a moderate-severe Intellectual Disability to read. BUT- she reads and she LOVES it.

For a whole different blog about Literacy, (specifically Disabilities and Literacy as well as Boys and Literacy) see HERE and if you really, desperately want to know what program we learned once we started teaching our older daughter "sight words" I wrote about it HERE

Also, I said to not dissect stories. What I mean by that is to just read the story enthusiastically and don't stop to point out every. single. sight. word. Just let your child get lost in the magic of the story. Doing so will allow your child to want to read more!

Teaching Writing- This has been a very hot topic lately. What most parents do is decide they want to teach their child to write, sit down with them, stick a pencil in their child's hand, and help them trace their name. Usually great results- kids are excited that they can create their name, and it feels powerful!

BUT- please remember that small hands are not adult hands. They don't have the muscles to really control a pencil, and need to build up that hand strength first. That is where scooters and playdough come in. 

Play with playdough- hide toys in it, squish it, poke it, all those things. BECAUSE it is a fun way to build up that hand strength that will give the child time to develop those muscles. Same thing with floor scooters. When little kids lay on their bellies on a scooter and use their hands to pull themselves along, that not only helps their hand muscles, but their wrist, shoulder, and trunk muscles as well, which are ALL needed for good handwriting!

Finally, when you do have your child color (please let them color!), use big fat markers, or else broken crayons with the papers peeled off. Broken crayons force people to use the correct pencil grip. Or the triangular crayons!

Limit Screens- I could go on and on about screens and the detrimental effect they have on developing brains. So many studies are out there listing how awful extended screen time is for developing brains, and it is no secret that we are pretty heavily anti-screen around our house, so I will limit myself to say:

- Limit screens to half an hour of tablet time plus a one hour show/ movie each day. That is IT!!!

- No, educational apps don't get a pass on screen time.

- Yes, I know how very handy screens can be! I try to save our family's screen time for the time I am prepping dinner because I need a break about then.

Get me on this soapbox and I may never stop. My favorite books on this topic:

  • Glow Kids
  • The Collapse of Parenting
  • Boys Adrift
Also, NATURE!!! Get out in nature and let your child explore. No child should have to try and learn about metamorphosis without ever having tried to catch a frog or watch a butterfly emerge from a chrysalis. Go on hikes to watch birds instead of playing Angry Birds. Experience life in real life, not through a screen.

That's All Folks!:

That's basically it for now! What are YOUR thoughts? Agree? Disagree?

Monday, February 28, 2022

Rare Disease Day: Show Your Stripes!

 The last day in February is set apart as Rare Disease Day!!! Why? Because every four years, the last day is the 29th of February, the rarest day of all! 

The symbol for Rare Disease Day is a ZEBRA! Want to take a guess why?

If someone hears hoofbeats approaching from behind, they automatically assume it is a horse. When individuals with rare diseases go to the doctor, oftentimes the doctor will assume their condition is due to a more common diagnosis, leading to the "Diagnostic Odyssey" during which families flit from one doctor to another, searching for answers that never seem to come. 

Other people say that the symbol of a zebra shows that just as no two zebra's stripes are exactly the same, so are no two diagnoses exactly the same. Every case is unique. 

What can we DO for Rare Disease Day? 

Show your support for the members of the rare disease community by doing one or more of the following:

1. Wear zebra print and take a picture!

2. Post on social media explaining why you #careaboutrare

3. Take time to learn about a rare disease today! Most affected individuals welcome genuine questions. We want to raise awareness, and are not embarrassed by people asking us to help them understand!

4. Donate to a rare disease based non-profit. I always choose the SATB2 Gene Foundation! 

5. Serve someone with a rare disease today. Bring them a meal or treat, write them a note expressing why you appreciate them, or meet up to talk! We all need friends, and having a rare diagnosis can feel lonely. 

Whatever you choose to do, choose kindness and inclusion!

Tuesday, February 8, 2022

Don't Make A Fuss! It Isn't a Big Deal

 I had an interesting experience recently. On a disability advocacy group I am on, someone posted about a hotel for a vacation their family had booked.  The website claimed that it was accessible, but when the family arrived, the hotel was not accessible for their child in a wheelchair and the family had to change all of their plans last minute to accommodate. All of their meticulous planning on location and travel time to the destination from the hotel were thrown off, and they spent most of the first day dealing with it.


But wait- that wasn’t even the worst part! Most families with a disabled family member are used to being highly adaptable, and they rolled with it (pun intended). They filed a complaint with the OCR (Office of Civil Rights) and then posted in our group to vent about lack of accessibility to people who would understand.


BUT THEN- someone commented and said that if the family was still able to have a vacation, so end goal achieved. They asked why the family would make a fuss and file a complaint; no harm had been done long term, so it wasn’t worth making a big deal about it, and that they should just be grateful that they got a vacation.


First, I was floored by that comment. Mostly, I was shocked that on a group dedicated to disability advocacy, a member of the group would be the one to say that! I have heard similar comments before; it isn’t a mystery that when you haven’t personally dealt with accessibility issues, it can be hard to understand the gravity of the situation. It isn’t about what you get in the end. It is about inclusion and accessibility along the way.


Let me try an illustrate with an analogy. Using this person’s same logic, I could say that during the time of segregated schools in our country based on skin color, black people had no reason to fuss, because they were still able to attend school. They should just be grateful that they got an education, right?


Wow, feels gross to think of it that way, doesn’t it? THAT is what we mean when we say that we want our children included. THAT is how it feels when businesses effectively say to our families, “You are not welcome here because of your disability. Go be with your own kind.”


Dramatic? Maybe. But that is how it feels to us. If anyone is ever struggling to determine if something is discrimination or not, swap out disability for race or religion or sex and see how it sounds. “Catholics can’t use this bathroom” or “Girls can’t take woodworking in school,” or “Asians aren’t allowed at this hotel.”


My children with disabilities are not in wheelchairs, so I don’t navigate with the physical disability/ mobility aspect of accessibility often, but this mentality could be applied to any accessibility issue- “Don’t make a big fuss about this; it isn’t a big deal. Don’t make waves because of a minor inconvenience.” 


Example- my daughter is about to go into Junior High. In junior high school here in our school district, students are allowed to choose an elective- band, choir, theatre, etc. I waited for weeks after the new year to get the course selection page, but nothing came home, even after I knew that other students in general education received the form. I finally got hold of my daughter’s teacher to ask about it, and was told that Life Skills students are always automatically signed up for art. 


I was angry. How dare they strip my daughter of her ability to make a decision for herself? It is assumed that “normal” kids can choose for themselves, but clearly *insert sarcastic tone of voice* children in life skills would only be interested in art, not like they can do anything else other than color pictures, right? Again, feels gross to say it like that, and to assume that kids with IDD can’t do anything other than scribble and don’t have varied interests. That belief is called ableism, folks, and lets have none of that!


Children with Intellectual Disability have just as passionate of interests as any other person. They just tend to have better attitudes and may not realize what they are missing out on, so they are easy to push around. Also, for the record, my child HATES art, so why on earth would she want to take that?


I sat down with my daughter and I wrote out a list of all the options for electives offered at the school (that I looked up online because I still hadn’t been provided with a form). My daughter picked cooking straightaway and without hesitation. When I contacted the school to say that she wanted to take Home Economics, I was treated (by many people, but certainly not all) like my request was a HUGE inconvenience. Without coming straight out to say it, their message was- if only I would just accept what was offered with a good attitude, I would make their job easier. 


The overpowering message I receive when people moan and groan about me standing up for my child is that they don’t think my child isn’t worth the effort to be seen. It is more important to them that they don’t have a deal with an additional fifteen minute conversation and sending a couple emails. Who cares if it comes at the expense of one ten year old girl’s happiness in sixth grade? It saved them a phone call TODAY.


(Brace yourself- *here comes Snarky Sarcastic Mary*) Woooow. I can’t imagine how difficult it must be for you to take an extra fifteen minutes this week to set up reasonable accommodations for a disabled child. Thank goodness you don’t have to deal with this every day. Imagine if that disabled child was your little girl and you felt like you had to get out of bed every morning with ten times the amount of passion and drive a “normal” person has in order to advocate for your kid at the school, with insurance, with doctors, with government programs, in the community… 15 whole minutes this week? Poor baby.


Okay, that was a little mean there. *Real Mary comes back* In reality, I do know most people at schools and in special education are there because they love these kids and want what is best for them, and sometimes their hands are tied. People are creatures of habit, and I do understand that it is easy to fall into the trap of doing the same thing over and over, not out of malice, but out of habit. It gets comfortable knowing what to suggest for the next round of sixth grade IEPs. 

But lets have the courage to break the cycle and really examine our actions to see if we are operating based on “that is just the way things are done” or if we are truly seeking to help each person with disabilities reach their fullest potential and live a fulfilled life. 


Long rant over now. Yes, families with disabled kids/ family members can get loud. We can be incredibly obnoxious and people can feel like they are being pecked to death by ducks because we wont. go. away. But we only want our children to have EQUAL rights to non-disabled people. Yes, that might make someone slightly uncomfortable because again, we are creatures of habit and don’t like doing new things. But please understand that I would not be able to sleep at night if I saw injustice being done to my child and did nothing. So I WILL say something, and this IS a big deal to me. 

Wednesday, January 26, 2022

Sexuality and Abuse in ID Population


About five and a half years ago, I wrote up a blog on Abuse Prevention based on a workshop I went to. I had the opportunity to attend another training recently, put on by the SAFE Alliance (Stop Abuse For Everyone). For simplicity's sake, I will be focusing on the Intellectual Disability population when talking about sexuality and abuse. (Prepare yourself, this can be a heavy topic)


First, let's dispel a couple myths about individuals with disabilities and sexuality:

MYTH: If people don't talk about love/ sex, they are not sexual

Not true! There are lots of different ways that desire is manifested. 

MYTH: If parents don't think their child is ready to date, they don't need sex education

False again! Sex education needs to come based on a person's biological age, not their intellectual age. Biology happens to us all!

MYTH: Separating boys and girls during sex education is the factor that will make students most comfortable.

Okay, this one tricked me during class. I wasn't sure about it when my class was asked, and the answer is actually false! The universal #1 factor in what made students comfortable during sex education is how relaxed the instructor is. Once that was explained, I agreed. 

MYTH: People with disabilities don't have sexual desires

That is right, FALSE yet again! Very often, the disabled population is de-sexualized. People assume that if a person has an intellectual disability, there are no sexual desires. But that is wrong. Remember what I said about biological age? Still true! Those hormones will kick in, regardless of your IQ. 

MYTH: People are safer when they don't date.

Wrong again. The disabled population is at an extremely high risk for abuse. I went into that a bit more in the old blog, and will touch on it later. 

So, with all those myths, what DO we do? How can we keep our kids with Intellectual Disability safe? 

1. BUILD RELATIONSHIPS!!! Far and away the best thing to keep your child safe is to help them build friendships and healthy relationships with trusted peers and adults. Everyone needs a community support network to rely on. If a person with a disability only has one or two people in their life, and one of those people abuses them, who would they turn to? Create and maintain strong relationships and friendships! Victims of abuse are MUCH more likely to confide in a trusted adult as opposed to a counselor or crisis hotline.

2. Encourage self-determination! Self-determination means the belief that you can and will control your own life. It is fueled by the knowledge that you have options available, and can make choices for yourself. If you know that you are not stuck with only one option and have the agency to choose something else, you will feel empowered to determine the course of your own life.

3. Teach Self-Advocacy! One of the reasons as to why people with Intellectual Disability are so easy to abuse is the compliance training that they are taught. 'Obey people giving you instructions, always.' This philosophy, well-meaning and intended to reduce problem behaviors, also harms a person's ability to identify boundaries and advocate for themselves. Self-advocacy is crucial for safety. Give them the ability to say NO and respect it!

3b. Note on NO: What if my child is saying NO, but they still have to do something? What if they have to take a bath, clean up toys, or have a diaper changed? It is for their own hygiene/ safety, and I do expect them to do their chores. What then?

In that situation, acknowledge you hear their no, then explain the reasoning behind what you are requiring of them, and let them know ahead of time what you will be doing "I hear you saying no, but I have to wipe your bum to get all the poop off so you don't get sick." Encourage their participation as much as possible to help them develop autonomy. 

4. Practice Physical Affection Boundaries: Let your child dictate when they are willing to give consent. This goes for hugs, kisses, touching, sharing, borrowing, and secrets. Ask for permission for these things "Do you want a hug?" to give them the opportunity to say yes or no with optional things, particularly related to physical affection, privacy, and personal boundaries. Healthy relationships never take away someone's choice. Boundary building doesn't happen over night, so you need consistent practice, repetition, and time.

Cool/ Not Cool Game

I am excited to look at the curriculum that the SAFE Alliance is putting out soon. We trialed an easy game to play with kids to help them learn what some healthy boundaries are. You introduce a scenario, and then have your kids do thumbs up for "Cool" or thumbs down for "Not Cool."

Some sample situations:

  • Your romantic partner says "Don't eat cake or you will get fat!" (not cool)
  • Your job coach yells at you because you made a mistake at work (not cool)
  • You are having a bad day, and a friend asks to give you a hug (cool)
  • Your friend slaps your butt and when you get upset, they say it was just a joke (not cool)
Practice situations like that and role play what to do. 


Now we get into the heavier topic- abuse. 

Scary Stats:
  • More than 70% of people with IDD have been victims of abuse
  • Most who were abused experienced that abuse on more than 20 occasions
  • Less than half of those incidents were reported, and of those reported, only 10% of reported incidents led to an arrest
  • Women with IDD have a 7x higher risk of being sexually assaulted
  • Men with IDD have a 1.5x higher risk of being sexually assaulted
  • 97-99% of victims knew and trusted their abuser
  • 44% of victims had a relationship with the abuser specifically due to disability (hired caregiver, aide, etc)
  • Abuse can occur anywhere, but is especially high in institutional settings

Why Such a Higher Risk of Abuse?
  • Learned compliance
  • Lack of privacy
  • Lack of awareness
  • Isolation
  • Extended periods alone with one person

Indicators of Sexual Assault, Abuse, Exploitation (Youth)
  • Signs of physical abuse- headaches, stomachaches, bruising, etc.
  • Increased fear and distrust
  • Change in mood or appetite 
  • Loss of skills
  • Denial
  • Angry outbursts
  • Anxiety
  • Sleep disruption
  • Nightmares
  • Distracted/ distraught
  • Sudden change in appetite 
  • Refusal to talk about a secret
  • Writes/ draws/ plays of a sexual nature
  • Suddenly has money, toys, or gifts without reason (part of the grooming process)
  • Think of body as repulsive or dirty or bad
  • Exhibits adult-like sexual behaviors, language, and knowledge
  • Sudden mood swings

Tips for Preventing Assault:
  • Maintain a 2 adult present rule for your child. Write into your child's IEP that you need two adults within viewing distance of your child at all times 
  • Get training for yourself
  • Coordinate a training for your child's school/ staff. If they know you are aware and watching for signs of abuse, the likelihood of abuse decreases drastically (because there is nothing scarier than the parent whose disabled child has been wronged)
  • Build a community of strong, healthy relationships for your child
  • Help your child practice healthy boundaries

Sunday, January 9, 2022

HELP! My Baby Was Just Diagnosed with a Rare Disorder!

See if this scenario sounds familiar: A doctor tells new parents that some of their baby's tests have come back with abnormal results, and that their baby has been diagnosed with a rare disorder. The doctor is not familiar with this syndrome because of how rare it is, so gives the family the name of the disorder, maybe a little basic information from a medical website, then tells them to schedule with a genetic counselor/ geneticist, and leaves it at that.

So the parents leave the office, stare at their baby, and then burst into tears. They never expected that their sweet baby would have any medical struggles. What did all this mean? They need answers, and they need them NOW!

So they rush to ask dear Dr. Google all the questions. What is (fill in the blank Disorder)? Everything they read terrifies them, and the whole experience feels surreal. They find a tiny website dedicated to this syndrome, as well as a small facebook parent support group and join immediately, often before they even have told their own family. They ask the parents in that support group what to expect. They want to take a glimpse into the lives of other families living with the same condition and to get an idea for the prognosis for their child.

And then, something incredible happens. They become an instant member of a new family. The community surrounds them with love and support. The other parents tell stories about their own family member with the same diagnosis. They share encouraging stories of success, some ideas of what to expect, send "Welcome to Holland" to the new family, and the parents cry all over again. 

So then the parents research and research and research some more. They feel like they have to learn everything RIGHT NOW! Speech therapy, MRIs, g-tubes, physical therapy, DEXA scans... 

The family goes through wave after wave of emotion. They sometimes feel empowered and ready to change the world for their child. Other times, they feel like they can't even get out of bed. Some days, they get angry at the world and feel jealous of the other families who don't have endless doctor and therapy visits. 

All of that is normal. It is part of the Grief Cycle, and the parents will learn about it more and more over the years. They slowly learn that it isn't a process where there is a start at Denial and end at Acceptance, but a circle that goes around and around. Eventually, they will spend most of their time in Acceptance. But it takes time to get there. And that is okay. 

At first, the parents will feel overwhelmed. There is so much to learn! Their child has a team of doctors whose specialty the parents struggle to pronounce, there are medications and tests and labs to keep track of, they have no idea what IEP, EI, ADA, and IDEA mean, and they think an Occupational Therapist is someone who helps you with your career. Medicaid vs Medicare? What is the difference? What on earth are waiver wait lists for services?

But with the help of their newly discovered support community, the new family figures it out. They get used to therapy appointments, handle EEGs like a pro, and take a million pictures of their adorable baby. They look into that baby's eyes and realize that they would do anything for them. So yes, life looks a little different now, but that is okay. Grief still comes and goes at times, but the family learns to appreciate life in a way that never would have been possible otherwise.

That new community that accepted and helped them immediately? They are like family now. They cheer on each other's successes, and commiserate over struggles. As their baby grows and develops, they realize that they love this life they have been given. And one day, when they pop onto that support group, they see a new family asking "My baby was just diagnosed with this condition! What do we do?" and they realize they have the answers and are ready to help. 

A Couple Tips for Newly Diagnosed Families:

1. Look up your local Early Intervention program. They will have lots of resources in your area for you.

2. Contact your state's Parent to Parent (sometimes called Family to Family) network and get a mentor to help you. They can walk you through Medicaid waivers and insurance and finding specialists

3. Enjoy your baby! Every new life is to be celebrated, and I am sure you already know that. Your baby will bring you so much joy that you will not be able to imagine life without them.