Down Syndrome, Maybe?

It's been hinted at more than once. Someone looks at my daughter and asks if she has Down Syndrome. The more it happens, the more I find myself starting to believe it. At first, it feels like they are just looking at her eyes and assuming because they drift up like they do that she has it. I'll admit, before we had an official diagnosis with MGS I thought it might have been Down Syndrome as well.  We brushed off all of her symptoms because we thought it was all related to her eyes, but as we approach her four month wellbaby visit with her pediatrician, I find myself bracing for the news that something else may be going on.

It started with a comment my mother made on Sunday. We skyped, as is our main way of communication so they can see and ooh and aah over their granddaughter. My mother didn't speak much for once. I attempted to get in contact with her for the rest of that day, and ended up touching bases with her the next morning. She knew why I was calling. I felt the same thing she saw. Something was off with Bug.  She was the first to say it.  Bug looked a little bit like a Downs baby.  She didn't have to say it, I knew I was thinking it.  It had been suggested before, but everyone brushed it off when they learned of her eye disorder, much like we all had, but it was different coming from my mother. Of course, she had mentioned it once before as well, but she also had decided it was all related to her eyes.

It has been mentioned before that Google is a dark friend to have. I found myself knee deep in symptoms of Down Syndrome yesterday. Do I see a Simian Crease, or are the three lines in her hand just bunched together? Is it sandal toe, or does she just have more control over her big toe than her small toes and separates it more easily from the rest of her toes?  Are her eyebrows similar to other children with Down Syndrome's eyebrows, or are they just her daddy's eyebrows?  The major scare on my mind is the fact her head is small. Her weight measured in the 75th percentile at her 2-month wellbaby visit, while her head was at the 26th percentile. I have heard they don't worry until it is in the 10th percentile or lower, but what about me? When should I as a mom worry?

So I get to send my husband in with a new concern to the pediatrician on Tuesday. He gets to hand over a list of things that have me worrying, and she'll be checked out. I'm scared to ask. I'm scared something is going to be wrong and she'll verify it. I know as far as getting her help is concerned, I need to know everything that is going on, but I also know I could be a lot happier pretending something isn't there.

I'm tired of being the strong mother who faces adversity and challenges with my daughter and meets them head on. I don't want to play this role anymore. I'm scared for my daughter.

L'Shana Tova (AKA In With the New Year, Out With the Old)

A message came up last week that made me stop and take note. The side scroller on Facebook had a comment I made last year on the day before Rosh Hashana, or the Jewish New Year (In case you did not know, I am Jewish).  I wrote "Hope the next year is better than this year". It also happened to be the day I got my big fat negative on a home pregnancy test, followed by the tell tale sign that there is no baby on the way that can not be mistake.   My husband and I had not been trying for a child, but we had thought there was a chance I might have been pregnant, and ended up getting rather excited over the prospect.  With the negative test I felt all my dreams of having a child disappear, and through that pain we made a decision that is definitely definable as life changing. We decided to actively try to conceive, and here I sit, a year later, watching the beginning of the year 5772 and recalling those feelings of anguish and despair alongside the feelings of elation that the new year brought when we made our decision and received the positive results the following month.   I stare at the status telling me of such heartache I felt last year, and part of me wants to laugh. Not because I had no idea what real heartache was, but because I had no idea what joy the next year would truly have in store for me.  I can dwell on the hardships that will come in this following year while we discover the full extent of my daughter's syndrome, or I can look forward to a year of enlightenment as she continues to show me how she can adapt to the world around her with her compromised vision. The ending of this year is no different than last, I limit myself to ten minutes of complete sadness every day, as well as hope at looking towards the new year as one of growth. The only thing that seems to have change is my perspective, and the realization of that is itself as life changing as a positive pregnancy test.

No hoping needed. This year is going to be certified bad ass.

What Did People Do Before the Internet?

Today I woke up to the normal routine of checking my email, once again.

Today, I received an email from Baby Center once again.

Today, I have hope.

Today, I feel like everything may not be perfect, but everything is going to be okay.

Today, I met another mother of daughter who has bilateral MGS.

To the beginning!  As I opened my daily Baby Center email, I saw I had a message from a person I had never heard of before.  It was another mother who had seen one of my posts about MGS on the babycenter forums and felt the need to send me a message. Before I knew it, I was directed to a Facebook group for people who are living with Morning Glory Syndrome, and still rock.  I was knee deep is posts from other parents like me who wanted to know that there was hope at the end of the tunnel, posts from people who were living with my daughter's condition and still thriving, posts that made me feel at home with a complete group of strangers. They were like me, my daughter, my husband, and they were all wearing the one in a million statistic like a badge of honor.

Today, for the first time since we have had this diagnosis, I feel like my husband and I aren't alone.

Today, I think I met an angel.

Adaptation

As I opened up my email this morning, I saw the usual mundane drabble that gets shipped to my inbox weekly, the stuff I usually click on delete before I even give it a second chance, but something caught my eye. I should have known better than to look at an email from Babycenter.com labeled "Your 2-month-old: Week 3".  Such emails are filled with all these fun milestones that "should" be happening with your child this week, and since they started talking about eye development, they have done nothing but cause me worry with how my daughter had been falling behind each week.  As I opened it up, the first thing it spoke of was how your child should be discovering her hands by looking at them intently. Great, another milestone she simply cannot reach because her hands are far too small of an object for her eyes to fully grasp, even if her eyesight is on the better side of the spectrum for MGDA. Once again, I deleted the email, sighed, and carried on with my morning.

Coffee, breastfeed, call to my mother to give me the strength to make it one more day, diaper change, allotted 10 minutes of self pity time for the day, singing time with Bug while flailing her arms and legs for her, another feed,  and putting her down for a nap.  It was somewhere in this mix of a morning schedule I had realized an interesting behavior in Bug that I had not really noticed before. Well, rephrase, I had noticed before but it was played off as something that babies just do.  She had her hands clasped together.  No, not just holding her own hands, but running her fingers over her fingers, pulling her hands apart, and repeating the same motion.  Moments like this usually would make me cry, but today I felt nothing but pride.  My daughter wasn't going to miss this milestone at all, she simply is going to figure out about her hands the only way she knows how.

Take that, weekly baby email. You aren't going to make me feel terrible about my child's lack of development this week.

Welcome to Holland

c1987 by Emily Perl Kingsley. All rights reserved


I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Preparing for Your Child's MRI

Nothing says goodmorning like a letter from the hospital for pre-MRI instructions for my daughter. She'll have her first MRI days after turning four months old. The first line says to not feed her after midnight. How Gremlins of them. I am quickly pointed out the exceptions to the rule are breastmilk, which is allowed up to 4 hours before the scheduled MRI, and Pedilyte/Water/Apple Juice up to 2 hours before. No metal straps on clothing or shoes, my mind immediately thinks of those educational videos about the terrors of wearing metal too close to the MRI machine.  It means I have to wait on getting her ears pierced, despite the tradition in my family to do the ears within the first three months. My daughter will have to be put under general anesthesia in order for them to get the scan, the thought of it all is just making me sick to my stomach.

There is a part to everything that is going unsaid.  I saw it in the Ophthalmologist's eyes when it was mentioned, I see the worry in my father-in-law's face whenever he sees my daughter. My sister-in-law has had a tumor in her brain since birth. Her specific disorder is called Juvenile Pilocytic Astrocytoma, or JPA, and manifested itself quite differently from my Bug's disorder, but once something like that happens in a family, and another child is born with any other sort of syndrome, the thoughts start forming, even if no one is vocalizing.

Quick, silver lining this thing.... I suppose if they thought there was something wrong and this wasn't a precautionary scan, they would have scheduled it sooner than a month and a half away, and we would have been sent to the pediatric neurologist. This does just seem like a covering their backs sort of scan, even the ophthalmologist didn't really seem that concerned about it, but the fact that it has to be done at all is unnerving. At four months old she should be starting to play with toys and lifting herself up off of mats at tummy time, rolling over perhaps, not going under for a scan of her brain.

Another huge silver lining is my mother is coming out from across the country in order to be with us for her MRI scan.   Whatever happens, she will be here to share in it all. We can either grieve or celebrate, but the important thing is I will have someone there to hold my hand, someone I look to for strength when all other options have been exhausted.  I hope and pray one day I will be able to be my daughter's rock like my mother has been mine.

Here's to waiting for a month and half for an MRI that may or may not come to anything. If I was not breastfeeding, I'd toast to it.

Morning Glory Disc Anomaly for Dummies (AKA Me)

I'll be the first to admit it, I am a chronic Google-er.  If I have symptoms of a common cold, before even thinking to call an advice nurse or even just compare symptoms with a sick coworker who more than likely passed me the illness in the first place, I will first Google everything and convince myself I am dieing of cancer.  My mother had promised me the minute I found out about my daughter's syndrome she would first break ground on the Google-verse to see if there was anything that was going to devastate me. This prevented me from Googling MGDA until we were out of the parking structure, but the very core of my being refused to let me get away with ignoring it for long.  

It's a blessing in its own way. If you google Morning Glory Disc Anomaly, you get a wikipedia article, a link to the Children's Hospital in LA, and a whole bunch of abstracts. I know what an abstract is, I see abstract and I immediately think "Here is a dumbed down version of an article that you would have no chance in hell of understanding, for your convenience, of course."  I hardly even bother when I read the word abstract anymore after being thoroughly lost three words into the first one. So much for me understanding.  For right now, I know MGDA is an issue with her retina and how it is attached to her optic nerve.  When looking at her retina, the ophthalmologist saw what resembled a morning glory. From what I understand, IE what the almighty Wikipedia has told me and what a family optometrist said, MGDA is incredibly rare, something like one in every one to three million people in America. If you go to the March of Dimes website, it isn't even listed under congenital eye defects. Despite the rarity of it, the morning glory is distinct enough a specialized pediatric ophthalmologist who may have not even seen a case before was able to recognize it off the bat. Despite how rare the specific type of optic nerve anomaly is, optic nerve damage itself is much more common. This just falls into a much more specific category of optic nerve damage. I keep comparing it to a chromosomal disorder, there are more chromosomal disorders than a person can count, though many seem to manifest themselves in similar fashions to the untrained eye. I still don't quite understand what makes MGDA so unique from all the rest, except that is might be a little prettier to look at when under the close eye of a specialist.

At least the name sounds pretty..

Syndrome

My Daughter has Morning Glory Disc Anomaly, or Morning Glory Syndrome.

First post here, and wow. I just wrote for the first time that my baby has a syndrome . It still feels so surreal at the moment.  To verbalize, to admit it. I keep just saying that it is Morning Glory Disc Anomaly, it sounds less than it is. It was even nice of them to name it something like Morning Glory, it has a nice ring to it. It's like having cherry flavored sucker but coloring it blue because I hate the color red.. I actually love the color red, just a tangent.

It's not like I'm surprised something is wrong. People said I was overreacting, my favorite thing my mother told me was "Stop seeing Kiwi's. You go outside and you see Kiwi birds, but all they really are are sparrows."  I've been seeing Kiwi's since she was 2 days old. Never doubt that mother's intuition... Part of me wants to scream at the doctor, I told her I thought something was wrong at the two week check up, I had another phone call appointment around the five week mark where I voiced concerns again. It wasn't until her two month check up that she said "Oh wait, something is wrong" and sent me to a specialist. Would it have changed anything if I had known sooner? Probably not, but I would have had to stress over not knowing for a few weeks less. I can see it in my face. Every day I went not knowing what was wrong with my baby, it looked like I was aging years. To finally know what is wrong is in its own way a complete weight off of my shoulders. On the other hand, it makes my heart ache to know that something is in fact not as it should be.

So what can we do now? For her, absolutely nothing. Unfortunately there is no treatment, she simply gets to go through life only seeing colors and shapes. If she is lucky, she may be able to read large print. For us, we learn to adapt. We make the house safe to have a baby crawling around that can't see as well as other "normal" babies. Normal... What is normal anyways? This is her normal.  The first person that says anything about her not being normal gets punched in the face.

At least she can still hear. She can still learn to play instruments, I've always called her my little rockstar.  If she can't read with her eyes, there is always brail. At least she is healthy, at least she is alive, at least my husband is still by my side and our relationship is stronger than ever, at least she wasn't born decades ago when special needs children weren't even taken out into the sunlight, at least I have had plenty of experience with special needs children working for the school district, at least her father grew up with a sister who had special needs and this is his normal.  Is this the end of the world? Far from it. As far as I know, right now this is the beginning of a new adventure for Will and I.  She's already been on it since she was born, maybe she'll be able to show us the ropes.