Why the phrase "Curiosity Killed the Cat" Haunts Me

Seven years old…our son.  Bilateral Persylvian Polymicrogyria, Lennox Gastaut Syndrome, Polymerase Gamma 1 Mitochondrial Disorder, Osteogenesis Imperfecta, Nephrocalcinosis, Neurogenic Bladder, Dysphagia, progressive, degenerative, palliative, terminal…our son.  Cute as a button, infectious laughter, extra-long eyelashes, blushed cheeks, prefers blondes, lover of country music, baseball player, first grader, wordless but wise, morning person…our son.  Feeding tube, bowel management program, cathing regimen, ventilator dependent, suctioning needs, tracheostomy tube, percussion vest treatments, wheelchair, fifteen specialty physicians, therapies, therapies, and more therapies…our son.

Dog?  Not our son.  Cat?  Not our son.  Family pet?  Not our son.

Parenting a child with so many complex medical needs has made my husband and me no strangers to well-intentioned but rather ignorantly blissful commentary about our son.  Somehow I still struggle to wrap my mind around how well-meaning people find common ground with our “plight” by comparing my son’s struggles to the struggles and needs of their beloved pets?  I understand that we are not always terribly relatable, and that sometimes the effort to be relatable is just that - effort.  However, I am never receptive <understatement of the century> to the notion that somehow my son’s sensory seeking behaviors – like his love of chewing his fingers nearly to the bone – are somehow the same motivations that your beloved “Fluffy” has for chewing.  By the way, shopping at the local pet-store for “chew toys” for my son is not something we will ever do, but thank you for the kind suggestion and we are thrilled that you were able to find some long-lasting squeaky toys for “tough chewers” like Fluffy.

I have established that our son is not your pet – he is not our pet either –he is an awesome little human being with infinite value who has taught us a lot about love and acceptance and I fear he is beginning  the end of his courageous battle against mitochondrial disease.   So why exactly does the phrase “Curiosity Killed the Cat” haunt me in the darkest recesses of my very sleep-deprived brain?  The same places where I store up the seemingly endless nonsensical scenarios of doom which always involve breaking my two front teeth in half or my irrational anxiety of  burning the house down because I threw a piece of burnt toast in the trash and maybe I threw it on top of a dry paper towel which might spark and catch on fire which will then result in our house turning into a pile of ashy dust and what insurance company will cover a house burnt down by toast???  <deep cleansing breath>

Seven years of countless tests, hospitalizations, procedures – DIAGNOSES - more tests, more procedures, more hospitalizations and now we come full circle investigating yet again for more diagnoses to explain possibly another rare condition without a cure.  What is it that drives our rather fierce need to know even when we are well aware that nothing will change the outcomes?

This week my husband and I were given the “option” of having a sedated brain MRI for our son to investigate some new symptoms that have recently developed - mainly some really disturbing muscle spasms, neuropathy, and increased seizures of a variety we have never experienced with our son and we thought we had experienced every seizure known to the medical world: tonic, tonic clonic, complex partial, infantile spasms, grand mal, subclinical, myoclonic, absence, status epilepticus…but what in the heck are these facial-like seizures??  Are these seizures at all?  We wanted to know, but sedation and mitochondrial disease do not play nicely together and after some fairly unfortunate past sedation attempts we are hard pressed to find an anesthesiologist – even in one of the top children’s hospitals in the world – who will sedate our son unless it is a life or death situation.  Is this life or death?  Well, we don’t know??  Maybe?  To us, yes?  The advice of many of our son’s trusted physicians against further investigation left us confused, and for the first time during our seven years as parents, left us somewhat hopeless.  Was our medical team so sure that the risks of further testing far outweighed the benefits of knowing a little bit more about disease trajectory?  Was the potential to perhaps slow disease progression not enough to take the risk?  For the first time ever, our son suddenly felt like a cat, and were we really going to kill him just out of curiosity??  Was our “NEED TO KNOW” actually going to kill our son, when all we have ever wanted was to save him, desperately so?

I was having an existential crisis about my own son who I had established LONG AGO was definitely not a dog, and definitely not a cat, despite the failed attempts from others to equate him as such, but who doesn’t know that “curiosity killed the cat”??  For a moment I thought, well CRAP, did our doctors think Owen was a cat too?  I don’t even LIKE cats!!!!  My husband and I found ourselves just sitting there in clinic staring at each other, hunched over, staring at the doctors, staring at each other, staring out the windows, staring at the bleak tan walls decorated with whimsical pictures painted and drawn by able-bodied children, children whom my son would never become  – and there it was a drawing of a patchwork cat.  We continued to sit there as wordless as our son - but definitely not as wise (and I swore I could smell toast burning down the hall).  Perhaps our son was a patchwork cat?  Perhaps we intimately knew about some of the pieces of who he was, but that we would never know what the red spotted patch, the yellow zigzag patch, or green striped patch were truly made of?  Would it matter if we knew?   Would it change that he is still a patchwork cat made up of many different materials and fabrics.

Somehow we found ourselves in a ship that always seemed to have a good sense of direction, even in the stormiest seas, but all of the sudden it felt like we were sinking.  The decision was laid fully on us about diagnostic testing and the admirals of our ship – our trusted physicians - wanted nothing to do with the direction we wanted to sail.

“How do you want to proceed mom and dad?”
"It is up to you mom and dad?”
"You understand the risks don’t you mom and dad?”
"You understand this won’t change the outcomes of his disease mom and dad?”
"Mom...mom...mom...mom...mom???"

Why can’t they ever look at dad or say dad first?  Oh the pressure!  I ran my tongue roughly across my two front teeth to make sure they were still steadfast in place.  The agonizing, aching, anxiety swelled up in the pit of my stomach as I said, “I want to know, let's do the testing”.

Today, our son had a sedated MRI and we are awaiting the results, the results that will not change the outcomes of my son’s life, but results that might help us know if we need to change the direction of our ship even if it is against the advice of our admirals.  The results that may or may not help us better define the green striped patch on our patchwork cat.  Our quirky little man is smiling and doing well post sedation and desperately showing everyone who enters his room his IV site and how much he is “suffering” from it with a rather dramatic furrowed brow and IV arm waving in the air.  We are thankful he did well.  We are thankful we made the decision even without our physicians approval, because our son is not a cat.  He is Owen.  Our son, with many patches - some we know very well - and others we will likely never understand the fabric of which they are made.  Curiosity killed the cat…but our son is not a cat.



Fellow Mommies of Miracles, when it comes to our most medically fragile children...do you think we will have the wisdom and discernment to know when to say "enough is enough"?  Should we ever say it?  Should we resist our need to "know" if we also know that the outcomes will remain unchanged?  How do we weigh risk when the stakes are already so high?  Please comment and discuss.

"Life with Cerebral Palsy" with Stephanie Cox: Introduction

In 2014, author Stephanie G Cox's book, "Gentle Firmness" was published by Winters Publishing Group. Her book highlights how Christian parenting sets firm boundaries and gently helps children learn to cooperate.

Nothing too remarkable about a book on parenting in 2014, right? Except that this 500 page book was researched and typed without the use of hands…or a voice to text program…

You see, Stephanie G. Cox experienced a long period of oxygen deprivation during her birth which resulted in damage to her brain. This short period in her life resulted in a life-long condition called, Cerebral Palsy.

As with anything, symptoms of this condition can be very different in every individual.

• It can be mild or severe


• it can involve only one side of the body or both sides, or may be more pronounced in either the arms or the legs.


• It can reduce the brains ability to process information (as in make the person less intelligent)


• It can cause tremors, abnormal movements, loss of coordination but allow a person to still walk or, like Stephanie, the person can be left unable to walk at all.


• It can cause pain, seizures, hearing or vision problems, or trouble with speech.

Stephanie has more severe symptoms of cerebral palsy. She lives life in a wheelchair and has her own language which she affectionately refers to as "Steph Speak", that is most easily understood by those who know her. But, though she is not able to speak quickly or clearly, she hears herself in her mind just fine, as her mind is "sharp as a tack!" Cerebral palsy did not affect her intelligence and the Master's Degree hanging on her wall is a testimony to that fact.

Stephanie is unlike most people in the way her body functions, but, is exactly like "you and me" in the way she thinks about her body.

How many of us spend life thinking, "Wow! I sure do type a lot because my fingers are well-coordinated!"

Or, how many of us spend time thinking at the end of each day..."I sure do get a lot of work done around the house every day because my legs enable me to walk without assistance!"

Or, how often have you walked into a store and thought, "I sure did pass through that door easily because...my body was able to coordinate walking, talking, texting, and opening a door all at the same time!"

No. We live our lives and do the things we do and whatever we do it’s normal.

Likewise, Stephanie doesn’t filter everything she does and doesn’t do through her physical abilities. She just lives her life the way you and I do…but also not like you and I do.

Just like I don’t sit around thinking about how my life would be different if...I had the physical abilities of an Olympic gymnast, she doesn’t live her daily life thinking of herself as "disabled."

When Steph first published her book, it didn’t even really occur to her that the fact that she had to type her book with her nose was even that interesting. To her, it’s just the way she types.

Due to her "Steph Speak" way of speaking, programs like Dragon (speech to text) won’t work for her. And, her fingers have a mind of their own so the only part of her that cooperates to type what she wants to say is her nose.

To a person used to typing with their fingers, this is a feat as amazing as watching the physical abilities of an Olympic gymnast in many respects! But, to Steph, it just is how she types.

Recently, a local news station did a segment about Steph and her book and she was surprised by how many many comments she got from the public who imagined that surely she must just type with her nose just for the challenge. Because her physical body is the same as anyone’s in that it is "just her body". She’s surprised at how people have reacted to her physical condition and how little people really seem to know about what cerebral palsy is.

Watch the news segment.

And, so, she and I will be working together over the next year to help the public learn more about what life is like for a person with severe cerebral palsy. I will be doing a series of 12 interviews with her, to be published here monthly, in which we will cover one topic or aspect of life with cerebral palsy from her viewpoint.

We hope that you will find this interesting (and a little entertaining!) and that this will help you all understand her better, and also to understand what life as a "disabled" person is like in general.

Thanks for reading!

~ Dara (and Steph)

OY! The Joys of Fundraising

Hello everyone, since last month, much has happened. I could have chosen many topics, based on any one of a number of events. I chose to write about fundraising. This topic is upper most in my mind these days because of "Night of a Thousand Stars" or NIGHT OATS as I call it. In the last few years NIGHT OATS has become something very near and dear to my heart.

On November 8, 2014, we will be opening the doors of a local church to a very special evening. There will be local celebrities, the mascot of the local MLB team, princesses and pirates. The sanctuary, which holds 400 people, will be transformed into an elegant ballroom, twinkling lights will shine all over the room, delicious food smells will fill the air, as each guest walks in. They will each receive a corsage or a flower for their lapel. The ladies will be provided with tiaras as well. They will enter the room wearing formal wear donated by the people in the community. The ladies' will have had hair and make-up done provided by a local beauty school. There will be a red carpet for them to walk down and a guest celebrity will interview each of them when possible. I guess you wonder why I said "when possible" you see, our guests are adults, 16 and up, with challenges of any type. Our guests are joined by their caregivers and families. You see, this event is to honor our STARS, to give them a special time, one that most kids celebrate by going to a prom, homecoming or other dinners/dances during their school years. Our guest probably did not experience this "right of passage" and even if they did, our amazing guests do not experience this type of evening enough! They should be honored, so this year our theme is the presentation of THE COURAGE AWARDS.

Now that I've explained NIGHT OATS, I am going to tell what it takes to put this on event and the money we had to raise. We need volunteers (High School kids, local volunteer organizations, other churches and other people who wanted to do something positive). I worry about volunteers each year but they always come through and are my shinning lights on the day of the event.

It all begins sometime in late June- we pick a theme. Next is the menu (which often turns out differently as we get donations from restaurants and from people who want to help with the cooking). It then goes on from there.

This year, we unfortunately lost one of our bigger sponsors, making it imperative for us to develop more fundraising activities then we have in recent years. We found out about the "drop out sponsor" last month and are now hustling to get an event together to help us with the needed deficit. A local BBQ restaurant has opened their doors for us on Sept. 27, a Saturday night so that we can bring in entertainment, have raffles and silent auction items. We have been wonderfully blessed to have 2 incredibly awesome bands come forward to donate their talents for the evening, the restaurant is charging a cover charge which is going directly to Night of a Thousand Stars!

So now it is the raffle items and the time element! My job is to get on the computer, find possible businesses to donate, send them a donation request e-mail or call them asking, in the nicest possible way, to part with an item that I know they could sell...Oy! Tough to do but, when it gets a bit difficult, I go to "my pictures" find the "Night of a Thousand Stars" folder from last year, open it and click from one image to another. I quickly remember that awesome inexplicable feeling of happiness as I look at these people laughing and remember their stories. I see images with their families and I see pride on their faces. Our guest all dressed up, wearing make up and nail polish and moms all over the room smiling down on their children no matter if they are 16 or 60. There was so much joy in that room and in my heart. Yes guys, it is a selfish thing I do. There is nothing that equals the feeling and joy when seeing my friends and their families feeling like STARS- even though they may be only one of a Thousand!

So after, I refresh my energy, I reach for the phone, "Hello, may I speak with the owner or manager?" I say. "My Name is Marcia Minutello and I am the co-organizer (my daughter is the other co-organizer) of NIGHT OF A THOUSAND STARS, I am calling to ask if we may count on you to donate an item for our raffle or will you sponsor our event?". Most times they graciously find a way to say no but, a few times a day they agree. Some with little fanfare, other with incredible enthusiasm. That enthusiasm is when I feel my face fill with a smile of joy of knowing we are one raffle or one small check closer to giving our amazing guest the time they deserve. One of the moms told me in her RSVP note for this year that her daughter had picked out her nail polish color from the day after last years event.

Well it is time to get going, grab a bite to eat, and then back to my computer and back to work. One thing more, this night that comes once a year reminds me of how magnificent our kids are. They bring us joy for just being who they are and they deserve the grandest of celebrations. They are each STARS not just for one night but always and we are blessed!

Let's Get Real

Special needs parenting does indeed have its gifts.  It teaches us patience and resilience.  It forces us to be better people.  It forces us to find our voices, so we can advocate for our children. It opens the door to friendships with people we may never have ordinarily crossed paths with.  Every time our child learns something new, the pride we feel is immeasurable. No "milestone" is taken for granted.  We get huge  amounts of joy from the smallest accomplishments, things that other parents may take for granted.

But there is another side to the story. One we are sometimes shamed into not sharing. One we are supposed to "suck up" and hide away, because some people are uncomfortable with hearing our pain.

So let's get honest. In many ways, special needs parents get a bad deal. My husband was fired from his job (with a Disability Services provider!) largely due to taking too much time off to attend Sophie's appointments. They refused to accommodate part time work. I've had to take more than two years off work (and am at possible risk of losing my job)  because of depression and anxiety largely resulting from a traumatic birth, chronic sleep deprivation in Sophie's early years and high stress around Sophie's extra needs.

Make no mistake...I am FULLY aware that there are plenty of parents who have kids with much more devastating issues than Sophie. But I'm sick of minimizing what we go through. And today I'm going to be brutally honest.

As parents to a child with special needs we fight. All the time. We fight for access to services. We fight to be heard. In Sophie's first year I was accused of being "paranoid and delusional" by one pediatrician, an "over-concerned" mother by at least three other doctors, and other unmentionable things by more doctors than I can remember. All because I thought my daughter had a genetic condition, and they thought I was imagining it. They were wrong, I was right. They shamed me and made me question myself, because they would not look outside the square.

A doctor at the sleep clinic at our local children's hospital refused to listen to my opinion that Sophie's chronic waking and screaming were pain related. He said she was waking because I was depressed and we had poor bonding, and if I was just prepared to let her cry it out then she would sleep. Would you let a child in pain cry it out? I wouldn't. We healed her pain (through the GAPs diet) and she started to sleep through the night.  If we had listened to that doctor's advice, she would still be living in pain.

Special needs parents fill in paperwork. All the time. We can't just enroll our kids at daycare or school or ballet classes or soccer and be done with it. We have to have special meetings, and write up information on our children's challenges, educate the teachers and carers in how to help our kids. Check in to make sure that our instructions are being followed. A teacher at Sophie's special needs kindly fed Sophie gluten (which she can't tolerate, and the teacher knew) and she had the hide to tell us she "figured it wouldn't kill her". Sure, it didn't, but was the teacher the one who had to get up in the middle of the night when Sophie was screaming in pain afterwards? I think not.

We have to hold our children down while they scream as they have blood drawn. Cradle them in our arms as they are anesthetized. Cook special meals for them because their systems can't tolerate a "normal" western diet. Console them when they tell us they asked all the kids in their class if anybody wanted to come to their place to play, and they all said no. Console them when, at just four years old old, a child in their class spat on them. We have to trek around and sort the wheat from the chaff when it comes to medical professionals and therapists. We question ourselves ALL the time...are we doing enough? Are we doing too much?

We have to teach our kids basic skills that come naturally to "normal" kids. We have to watch on while they are rejected by their peers. We have to face the shame of seeing that our own kids are so much braver, more positive and more courageous than we are.

We love our children without doubt...deeply, endlessly, honestly. And at the same time we sometimes hate the things we have to do every day. We hate the endless list of doctors and therapists. We hate the fear of wondering when the next thing in the list of issues associated with our child's diagnosis is going to raise its head...for us, with Kabuki... epilepsy, kidney failure, chronic immune deficiency, hearing loss, joint replacements and more. When our daughter complains of sore legs and asks to be carried, we have to wonder whether we are indulging her, or whether she is having legitimate joint pain associated with her disorder. We have to face the stares of parents who watch us carry our child into the water while she is screaming...because they think we should wait until she is ready, and we know she will only ever be "ready" by being pushed past that barrier of fear. We berate ourselves for looking too far into the future, and question whether we have looked far enough into the future to provide the assistance they may need to help avoid some issues.

As grown adults, who have been used to being financially independent for years, many of us (yep that's us) have had to accept financial help from our parents. Which we are so utterly extremely grateful for, but that makes us feel small and beholden and inadequate. We won't deny Sophie the therapy that our parents have helped us to afford, but we feel guilt that we can't do it all ourselves.

Generally we minimize it all. Almost all of the time. We write and talk about the positives, the pride, the joy. Because the average person doesn't want to know, they want to tell us to be positive. And because we are SCARED that we will lose friendships if people know that these deep and dark thoughts are within us. And yes, positivity is needed, and a great thing to strive for. And positive reinforcement is invaluable. But sometimes we just want to be heard. We want to cry for our children's difficult life path. We want to be held in our pain, and allowed to process it, rather than being told to deny it.

I love my daughter. More than words can say. I hate my weakness. And here, today, I am choosing to share it. Not for pity, not to be judged. Just in the hope that other special needs parents might not feel so alone.  And perhaps that parents without children with special needs may read this, and get some insight into our lives. Special needs parents can't hold it in all the time. We are human. We are not "special people", chosen because we have "special gifts to offer". We may perhaps end up being "special", because we have to travel this path. But it is not one I would wish on anyone. Parenting is a challenge for anyone. And sometimes, as special needs parents, we need to grieve and moan and cry. Not all the time, that's not what I'm saying.  But if we are heard, and understood...it is THEN that we can accept the well-meaning advice to "get on with it" and "see the beauty" and fully move into the role we have been called to fill.



Check out Kathy's blog if you would like to follow her journey with daughter Sophie.

All About Our Trick-or-Treat Program

As a mother of a child with complex medical needs I hear the same question ALL the time “Is there anything I can do to help?” or some variation of that question. Early on I would just say no, but thank you for asking. Over the years I have learned that most people that asks really do care and want to help. When there is something they CAN do, it not only helps me, but it typically makes them feel pretty good as well.

While my daughter has a lot of medical issues, she is still just a kid and loves to do many of the same things other girls her age do. This includes dressing up and holiday traditions. Halloween is a family favorite at our house. Since my daughter is fed through a feeding tube and is not able to eat by mouth at all, trick-or-treating just seemed mean. I felt like it would be almost cruel to drag her house to house to then take all of her treasures away at the end of the night. Not to mention, then my husband and I are left with more candy that we end up eating.

One year we took some stickers and little Halloween themed toys to a few neighbors' homes and asked them if they would mind keeping those aside so that our daughter could trick-or-treat at their houses. Our neighbors were so excited and loved being able to help us bring Halloween to our daughter. When we took her to these houses not only did they have the little treats we brought over, but they went out and got other stuff to add to her goodies as well. Everyone won that night- especially our daughter.

That Halloween got me thinking. My daughter is one of thousands, or tens of thousands, that can not eat Halloween candy. My neighbors were thrilled to be able to contribute to Halloween fun for our daughter. I figured there has to be more people out there that want to do the same. Many people already do, and had no idea that by handing out stickers, pencils, spider rings, etc in addition to or in place of candy that they have made their Halloween goodies inclusive. It really is that easy.

MOST people want to help. When people hear our daughter’s story they always tell me about how their cousin, best friend, little sister, etc has a child with special needs. All of us have special kids in our lives that we love and want to help bring them joy. This concept lead to us creating the Trick-or-Treat Program. This program gives EVERYONE a chance to make a difference.

We have developed a few tools to help make this program a success.

It's as easy as 1-2-3

	1- Add some non-food treats
	2- Print out a decal
	3- Share Halloween fun with ALL kids

We have an online registration system as well. You can register your address (we don’t ask for any personal information- not even your name) to let kids in your area know that non-food treats are available at your home. There is a simple map that will help individuals plan out their trick-or-treating routes.

This program is so simple, and impacts so many. EVERYONE can participate. You do not need to have a child with special needs, you do not need to have a child at all. If you plan to be home on Halloween and hand out treats, just add some non-food options. This is NOT and anti-candy campaign! I LOVE candy and for many kids its still a great option. I must tell you though, the past few years I have offered both. When kids knock on the door I let them chose. The non-food treats go much quicker than the candy. The older kids want the candy, but the younger kids love the non-food options.

Please help us make this program a success. The more people that know about it, the more people that will participate. We are just stay at homes and rely on word of mouth to help us deliver these details. We need YOUR help! Tell your friends, tell you family, co-workers, neighbors, tell everyone! You can post a link to our page, tweet it, pin it, instagram it, or any of the other cool things kids are doing today.

I just want to know WHY ....

Today at 10:48AM my phone rang.  It was the genetics counselor from Boston Children's Hospital with the last of Elizabeth's test results.  I had spent the last two months holding my breath, waiting for this call.  I stared at the phone for several rings, recognizing the number, unable to move, before I finally answered it.  The last of my daughter's genetic testing had come back with normal results.  I should have been ecstatic.  I should have been jumping up and down.  I should have been relieved.  But instead I felt lost somehow.  I felt like we were back at square one.

So what was square one?  At 27 weeks pregnant I was admitted to our local children's hospital in pre-term labor with excess amniotic fluid and placental abruption.  On the ultrasound they were able to see Elizabeth having a "double-bubble" (an intestinal obstruction) and an Atrial Septal Defect, or ASD (hole in her heart).  I was terrified.  They told us she had Down Syndrome, and we got our first diagnosis.  The results of the amniocentesis would be prove that she did not have it, however, as would the blood they took from her once she was born.

Elizabeth had major corrective surgery on her duodenum at 12 days old, weighing just about 2lbs.  She spent 3 1/2 months in the NICU and came home on oxygen.  She has severe GI issues from the time food enters her body to the time it leaves.  Feeding and oral aversion have been an issue since day one, and we still work with a speech/feeding therapist 3 times a week.  We don't use her G-tube as much as we used to, but she still needs it.  She also receives occupational therapy for sensory issues and is phasing out of receiving physical therapy.  Elizabeth's lungs have long term issues from being born so soon, and she has fairly severe allergies as well.  The hole in her heart has almost completely closed on its own, we got very lucky there.  We currently see a special pediatrician from our local children's hospital as well as a pulmonoligist, cardiologist, geneticist, gastroenterologist, surgeon, developmental pediatrician, and early intervention for her therapy services.

There are times that I feel as though my daughter's entire lifespan has been a search for something to explain this journey - something to explain my pre-term labor, her prematurity, her intestinal obstruction, her GI issues, her eating difficulties.  I feel like I need a reason why. I have to know why. Why were we selected for this journey?  Why us?  We aren't anyone special.  I want to know why we were chosen to have her, why she was meant for us.  I want to know why things went wrong.  I want a diagnosis, I want a name, I want a label.  So often we hate labels and they are a terrible vice, yet that is all I have been grasping for.  I want a diagnosis so I know what the future holds, so I know how to prepare better to help my daughter.  I want to know if this would happen again, should we decide to have a second child.

I have a special needs daughter, but I don't know how to explain what's wrong with her, because I don't know myself.  There is no name for what she has.  We have lots of individual diagnosis, but she doesn't have an all-encompassing diagnosis that would explain everything.  People ask me why she was premature, why she has a feeding tube, why she won't eat like "normal" kids, why she has sensory problems.  There is no quick, easy answer.  They ask when she is going to be better.  I don't know what to say.  Better than what?  Compared to a year or two ago, she's doing phenomenal, she's making leaps and bounds.  I don't know how to explain things about my daughter that no one will ever understand.  And it's difficult to explain something to someone when you're still searching for the answer yourself.

The Down Syndrome diagnosis during pregnancy (while wrong) started us on a road of genetic discovery that I desperately hoped would lead to an answer.  In the process we learned that she has 42 genes on her 4th chromosome that are identical - so for those 42 genes, she got both sets from the same parent.  We don't know which parent.  And unfortunately, no one could tell us what that meant.  Those genes aren't associated with any known conditions or diagnoses that correlate to her birth defects.  Our local children's hospital, while wonderful in many areas, is lacking in experienced genetic specialists.  They tested for 22Q and a few other things.  Everything came back negative.  I was searching, searching, searching for answers. 

Elizabeth's speech therapist suggested Boston Children's Hospital, so I asked her pediatrician if we could go for a second opinion.  In doing so we met wonderful clinicians and doctors - brilliant, caring people who spent more than 3 hours with us, late on a Friday afternoon into the evening.  They explained what they think happened with Elizabeth's GI system during embryo/fetal development, and that they didn't think it was related to her chromosomal anomalies.  They saw her heart as unrelated to both the GI and chromosomal issues.  Still, they saw some things they wanted to test for, so we had blood drawn and sent out.  FragileX came back negative a few weeks ago, and today TBX1 came back negative as well.  Boston offered to send us to a privately funded organization for whole exome sequencing, but only 30% of the people that go get an answer. But at what point do we stop searching for an answer we may never get?

While I am happy that the last test result came back negative, I also feel frustrated and lost.  Part of me wanted one of these tests to be positive, if for no other reason than I need an answer.  I need a condition, a name.  I feel like Boston was our last chance for a concrete cause, or reason, or diagnosis.  At this point I don't think we're ever going to get that.  I don't think I'M going to get that.

And perhaps that's what this is.  Perhaps this search hasn't been so much to find a diagnosis for my daughter, but to find an answer and closure for myself.  As her mother, and my body her first home, I want to know that I didn't cause this somehow.  I want to know that I didn't do something wrong.  I want to know that her health issues aren't my fault.  Sometimes I think that's what a lot of us are searching for - peace of mind that nothing could have been done differently, that it wasn't our fault.  Peace to know that the guilt we hold so dear, so deep is not warranted.

It's strange, because it's not as though an answer would change or fix anything.  She would still have the same medical issues and challenges.  The outcome wouldn't be any different.  We would just know why it happened.  So why is an answer so important to me?   I'm not sure.  Would it make me a better mom?  I don't think so.  It is hard for me to accept that "these things just happen", or that this was part of my life's path, or everything happens for a reason, or that this was meant to be.  I am a very logical, calculating, type-A person.  I want to know why. I need to know why. And the harsh reality is that I will probably never know why. After years of searching, we have pretty much exhausted our options.



And maybe that's why the phone call this morning was so disappointing - because this was our last real hope for the answer so that I so desperately seek.  At this point there are no more specialists, no more tests.  There is only acceptance of the unknown.  We join the ranks of the undiagnosed.  We just have to accept that we defy the odds, that she is the 1% (actually she is 1 in 12,000 for duodenal stenosis caused by an annular pancreas - add in the other birth defects and chromosomal anomalies, and she is 1 in ..... some very big number).  We have to accept that things happen and not every pregnancy goes as planned.  Or rather, I have to accept that.  I know that there is a reason why she was born the way she was.  Maybe someday I'll find it out.  Until then, I just have to look at her beautiful smile, try to have faith in something greater than myself, and believe that things happened just the way they were supposed to .... even if I don't know why.

MOM Note:
At a recent conference MOM was able to speak with a few of the different agencies that offer Whole Exome Sequencing (as well as many other genetic panels). We talked with a rep from Transgenomic that told us that they know that the high costs of these test often take them off of the table as options for many families. Transgenomic will perform most test (with a script from your doctor) for $50 or less. This $50 may include testing parents and immediate family members as well- and they can come to you. According to their website and marketing material, 85% of the US patients are eligible for testing at this price. If you are looking at having genetic tests done for your child, and are worried about the cost, you may want to give them a call.

Meeting with a legislator

A few weeks ago, I wrote to our United States Congresswoman, Cathy Kastor, who represents the Tampa, St. Petersburg, Fl area. I have met with other legislators through the years but, this was the first time with a national representative. I saw,in her bio, that she was very interested in diversity issues. I thought this might be a way for her office to meet with me, after all, a disability is a diversity, isn't it? So I contacted her office through e-mail. About a week or so after my e-mail, I received a call from The Congresswoman's Outreach Coordinator in the Tampa office. We set an appointment for this past Monday, which was only 3 days away from the phone call!

The time I needed to think about and organize what I would say came over a particularly busy weekend. On Sunday afternoon, I began to panic just a bit. I felt totally unprepared for what I hoped would be an important positive meeting. I "locked" myself in front of the computer and tried to write down the issues I wanted to speak about. Would you believe, WRITER'S BLOCK! I guess more than that I just couldn't chose the topics that were most important. Having had experiences with legislators before, I knew that my time was limited, 15 maybe 20 minutes at most. What are the most important issues to discuss?

I finally came up with a plan. I prioritized my presentation by what I saw around me including some of the issues from my own experiences and others I have read about on Facebook. Like those on Mommies of Miracles, Cerebral Palsy Awareness, AutismTalk and many other pages and sites. I finally came up with my topics: ADA accessibility, equipment needs, best educational possibilities, continued Health and Wellness after aging out of school (over 21). I began to work finding statistics, related stories and other information. I thought that would round out the 15 or so minutes I would be there.

On Monday, I arrived to a very friendly welcome where coffee was offered and was ushered into a very impressive and comfortable office with a small table and leather chairs. It was much more intimate and less intimidating than a big conference table. After a few minutes a young business looking woman came in to the room. She had a friendly smile and an outstretched hand and she introduced herself as a Staff Assistant. She apologized for the fact that the gentleman I was originally supposed to meet had to pick up the Congresswoman from an event. We began to discuss my list and I could see that 15 or 20 minutes was not happening. She was just listening to me, discussing whatever I brought up and writing down all the questions I had, as well as the thoughts and information I was able to give her. Shortly we were joined by the person who had originally scheduled the meeting. Together, we spoke for almost 2 hours! It was a good exchange of information I found out about some places I could contact that were doing some pilot work on the issues. They asked questions and offered their thoughts. I really felt comfortable that they were listening! They explained the procedure as "What was gong to happen next". The two of them and some other office assistants, specializing in the issues I brought up, would have a meeting and put together a report that would then be sent to me for approval and then given to the Congresswoman. I was told that we would meet again with the effort being placed on how to make an impact in some of the areas we had discussed.

I did walk out with a good feeling. Visiting legislators is not always as easy as this was, but I am hopeful that this will help to bring to light issues that face the needs of our children and families.

Meeting with those that have the ability to write legislation and offer relief for those in need is an important part of not only advocating for your child but for others as well. Please take the time to find out who your state and federal officials are and write to them and express your needs and those of others you know in the community. There are over 54 million Americans who are disabled. 1 in 4 who will be disabled at sometime in their life. These numbers do not include family members and caregivers who together can be a driving force for change, growth and inclusion. We are an incredible collection of people who can have a great but fair influence by expressing our needs and desires to those elected officials who can understand the reasons to want to help. Let them know you are out there and a show of their concern and support will make a difference in who we rally behind.

This was not a place for pictures, so I am posting an image of my daughter Laura-Lee who is Ms. Wheelchair Florida USA which is a service title helping her to advocate in many different ways, and the governor of Florida, Rick Scott at a news conference in Orlando, Fl.