The Very Special Gift

Another parent posted this and I wanted to share...

The Very Special Gift
By S. Guevara

Once upon a time, three angels were busily working in the miracle factory. They were responsible for wrapping up all the little miracles and sending them on their way. Normally they wrapped each one in bright, sturdy paper with big, shiny ribbons. They stamped them with a delivery date and away they would go to the parents who eagerly awaited their arrival. Things usually ran pretty smoothly.

One day, however, down the conveyor belt came a little miracle that made the angels pause. "Oh my," said the first angel "this one's uhm...well...different." "Yes, she is unique" said the second angel. "Well I think she is quite special," said the first angel "but I don't think she will quite fit our standard wrapping procedures." And the second angel added, "And we know she's special, but will everyone else?" "Not a problem," said the third angel "obliviously a special miracle deserves extra special wrapping; and of course we'll send her off with our most heartfelt blessings. Then everyone will see how special she is." "What a wonderful idea!" replied the othims. So they searched the shelves high and low for their finest paper, and their most delicate ribbons.

When they were done, they stood back and admired their work. "Beautiful!" they all agreed. "Now for our blessings," said the third angel "for it is time for her to go." "I will bless her with innocence and happiness," said the first angel. "And I will bless her with strength to face the many challenges that lie ahead" said the second angel. "And I will bless her with an inner beauty that will shine on all who look upon her" said the third angel. Before sending her off the third angel, who was very wise, gently tucked a note inside.

And it said,

"Dear Parents:

Today you have received a very special gift. It may not be what you were expecting and you may be disappointed, angry and hurt. But please know that she comes with many blessings. And, while time may be pain, she will bring you much joy. She will take you on a very difficult journey but you will meet many wonderful people. She will teach you patience and understanding and make you reach deep inside yourselves to find a source of strength and faith you never knew you had. She will enrich your lives and will touch the hearts of all who meet her. She may be fragile but she has great inner strength.

So please handle her with care. Give her lots of attention and shower her with hugs and kisses. Love her with all your heart and she will blossom before your eyes. Her spirit will shine like the brightest star for all to see and you will know that you are truly blessed."

Perspective redefined.

Shortly after Sadie was diagnosed with Aicardi Syndrome, I remember thinking that there couldn't be anything worse than this disease...daily seizures, possibility of regression, a child who may not walk/talk, and a cognitive ability of 6 months to a year of age. This assumption was challenged last week when I attended my first moms support group.

The group is for mothers who have children with rare and life-limiting conditions. One woman's story in particular stuck with me. Her daughter was diagnosed with a rare condition called Batten's Disease. It is a degenerative illness where the body gradually breaks down. Her daughter developed normally until the age of 3 1/2, and is now quickly declining.

It was the first time that I realized how lucky we are that Sadie "only" has Aicardi Syndrome. I don't spend much time feeling sorry for myself or our situation, but not a day goes by that I don't wish Sadie's prognosis was different. However, to witness your child slowly deteriorate must be the worst kind of pain. It's all about perspective.

Sadie has been on her new seizure medication, Depakote, for a few weeks now. I'm sorry to say that we haven't seen much improvement. I feel like we're fighting a battle against the seizures. Occasionally they'll retreat, but then once they learn our tactics, they come back stronger. We're still on the medication merry-go-round and hope that we will find something that works very soon.

Despite the lack of seizure control, our little girl is growing like crazy. Sadie is now 7 1/2 months old and is already growing out of her 12 month clothes! She is in the 95th percentile for height and weight. She will start speech and feeding therapy next week. We've also enrolled her in one extra session of physical therapy so she gets some additional time working on her gross motor skills.

She also had another bout of trouble with her eye. Seems she picked up a virus last week in her eye, so we're again on daily eye drops to clear it up. I joke with her Opthomologist that we should get a frequent visitors card.

Sadie is still enjoying her solid foods. She likes her fruits the best, and I swear I heard her say "YUM" while eating her bananas.

We're looking forward to the holidays and getting to enjoy some good relaxation time with friends and family.

What we're thankful for.

We have a lot to give thanks for this year.

We are thankful for Sadie's doctors who monitor her condition closely and take such great care of her.

We are thankful for all of the nurses who care for Sadie, both in the doctors' offices and the hospital.

We are thankful for Sadie's therapists who put in hours every week to help Sadie develop.

We are thankful to everyone who has given to Sadie's special needs trust. Your generosity is overwhelming.

We are thankful to have connected with such a wonderful group of parents through the Aicardi Foundation. Your guidance and support has been invaluable.

We are thankful to be close to friends and family who have reached out and offered support. Particularly Sadie's godmother who also serves as our fairy godmother :).

We are thankful to have a loving, strong marriage that will endure whatever comes our way.

We're thankful for YOU. Everyone reading this blog and following along with Sadie's Journey. Whether you are a close friend or family or whether we have never met. It means the world that you are following along, saying prayers, lighting candles, keeping Sadie in your thoughts.

But most of all, we're thankful to have a beautiful little girl who has changed our lives for the better, who teaches us never to take anything for granted, and who has made us better people.

For Better or Worse. Here Goes...

We're bracing for impact. What that impact is, we're not sure. After a week of various opinions, we've made a decision.

Let me start at the beginning...

Sadie saw a new neurologist last week to get a second opinion. In the meantime, her current neurologist presented Sadie's case to the team of doctors at Children's Memorial. Apparentely, the doctors do this periodically when they have difficult cases. The result was two differing opinions.

Doctor A recommended weaning a few medicines to try to determine what is and isn't working. "A" also suggested she try a few new medications. Doctor B recommended we start aggressively treating her with prenisolone, an oral steriod. Steriod treatment has always made us a little nervous, given the many side effects, including a weakened immune system. We've opted out of the most commonly used steriod for infantile spasms, ACTH, due to the high mortality rate (1 out of every 12 children), and the fact that many Aicardi parents don't think it works very well for girls with the Syndrome.

After giving ourseleves a few days and seeking out numerous opinions, we decided to forgo the steriod treatment for the time being. For better or worse, we're trying another seizure medication, Depakote.

Sadie was also at the hospital most of the day last Thursday for her Electroretinagram (ERG). We received good news and bad news. The good news is that the ERG showed Sadie to have decent vision in her left eye. The bad news was as we suspected, she most likely has no vision in her right eye....sigh. Although we had mentally prepared for this, it doesn't make the news any easier.

We've started working with two great non-profit organizations. The first is an organization called Hope's Friends. They send a home nurse to see Sadie as needed, a service that will be even more important as cold weather approaches. The nurse came out this week to check out Sadie's bowel movement issues. The ketogenic diet really stops her up :( They'll also be starting Music Therapy with Sadie this week. We'll see if we can get any Katy Perry or Beyonce in the mix, you know how Sadie loves them :) Additionally, an aromatherapist is developing aromas for Sadie to see if it will help with her bowel movements and seizure control. It's worth a try, right?

Sadie also visited the local Easter Seals chapter for a feeding evaluation. She will go back in a few weeks for a seating/positioning clinic to help determine what, if any, special equipment is needed as she gets older. Specifically, we're looking at special feeding chairs, strollers, and car seats. Both organizations have been wonderfully helpful for Sadie.

So, we brace for impact as Sadie starts what is now her third seizure medicine this week. We hope and pray that the third time's a charm.

Milestones, Shmilestones. Her own yardstick.

Comparisons are inevititable. I think mothers are particularly guilty of comparing their child to others. I remember walking into my first session of a new moms group and being envious of the mother whose 11-week-old could already hold his head up.

Comparisons are everywhere. I get increasingly frustrated with the amount of literature devoted to "milestones." Every time I pick up a piece of paper that talks about which milestones your child should have mastered by a particular age, I throw it in the trash. I've shelved "What to Expect the First Year" and unsubscribed from BabyCenter e-mails that tell me what my child should be doing.

Am I ignoring the milestones? No, they are everywhere I look - the baby in the mall playing with a toy, the friend's child who holds a gaze longer than Sadie, the child in the grocery cart who can sit in the front and not have to be toted in a car seat. Do we want her to reach these milestones? More than anything. But we're not willing to obsess about it so much that we forget to enjoy our precious 6 month old baby.

Yes, Sadie turned 6 months old this week. Her getting older is not without challenges. She still struggles with many of the gross motor skills that most children have mastered by this age. I recently asked one of Sadie's therapists how she compares developmentally to other babies her age. She wisely responded that we use "a different yardstick" for Sadie.

This six-month old has recently sprouted her two bottom teeth! She has also found her thumb and has taken to sucking on it. Sadie started solid foods on Halloween night. For the ketogenic diet, this means rice cereal and baby food mixed with butter, all measured out the the precise gram. It took her a few spoonfuls to understand what was going on, but after she realized it was food, she quickly got the hang of it. Leave it to our little girl to take to solid foods like a champ! When I fed her the next day I swear she got excited when she saw the spoon.

We received the results from her most recent EEG. While the neurologist was happy that the brain activity seemed more organized than her last EEG, she was unsure if Sadie would ever have a "normal" EEG given the damage in her brain. The good news is, the only seizures that are showing up on the EEG are those that we can see. The bad news is, she is still having quite a few seizures a day. She is hovering between 7-10 clusters of spasms a day. We're still increasing medications (topomax and vigabatrin) and tweaking the diet to see if we can gain more seizure control.

We'll also be seeing another neurologist next week to get a second opinion on Sadie's treatment. Her current neurologist has been great, but because her seizures are so hard to control, we decided it would be beneficial to get a second opinion. The new neurologist treats another Aicardi child here in Chicago, whose parents we've gotten to know quite well.

While Sadie may not yet be able to hold her head up or sit without support, she is a delightful little girl who loves social interaction, smiles at everyone, and will do her best to join in the conversation - and for now, that's good enough for us.

How we found out.

One of the most frequent questions we get asked, other than, what does it mean for Sadie, is "How did you find out?" Here's the story, in a nutshell...

It all started with Sadie's right eye. Shortly after Sadie was born, we noticed that her right eye was not opening as well as her left. We mentioned this to the pediatrician who attributed it to a clogged tear duct, which are common in newborns. A week later, when her eye still was not opening very well, we were referred to an opthomologist who diagnosed Sadie with micropthalmia and sent us to Children's Memorial Hospital for an eye exam under anesthesia. The journey began...

The photos above show what the eye exam revealed. The top photo is her right retina. The bottom is her left, which is more normal-looking. As you can see, Sadie has peculiar scars (lacunae) on her right retina. The opthalmolgist was not sure how the scars came to be, so we were referred to a retina specialist as well as a pediatric eye infectious disease specialist (yes, they exist). At the time, we were experiencing what we thought was our worst nightmare, that our daughter may not have vision in her eye and may need to wear a prosthetic.

It was around this same time that Sadie started tensing her body in a strange way. Her legs would come up and her arms would curve inwards. The pediatrician initially thought it was due to acid reflux. A few days later, she was still making these strange movements, and we started to notice that the movements came in clusters. After doing some research online, I found a link about a type of seizure called "infantile spasms." Anyone who deals with a sick child knows that the internet can be your worst enemy. After watching a few online videos, I knew that this was the same movement that Sadie was having. The online definition of infantile spasms is "catastrophic childhood epilepsy." My heart broke.

We were sent in for an EEG and then an MRI. The EEG showed abnormal brain activity. The MRI showed fluid-filled pockets in the brain as well as a missing corpus callosum. I remember getting ready the morning of our first neurologist appointment. I had a feeling that we wouldn't be getting good news. That was the morning of June 18th, the date Sadie was diagnosed with Aicardi Syndrome. The day our lives changed forever.

It all came together. Everything that Sadie had been experiencing - the retina scars, the spasms, cysts, missing corpus callosum - were symptoms of the syndrome. Looking back, how silly and vain I was to be so concerned about a lack of vision and a smaller eye. How I wish now that these were the only problems Sadie would have to deal with.

A week of firsts. Good days and bad days.

It's been a whirlwind past couple weeks. Many firsts have happened since our last post.

We spent the first night in our new home. After a lot of stress with coordinating move logistics and closing paperwork, we have officially moved in to our new house. I can't tell you how excited we are to finally be settled.

Sadie spent her first full night in her crib. Up until now, she had just been taking naps there. Call me a paranoid parent, but I had her sleeping overnight next to us in her pack and play for the first five months of her life. With all the changes in seizure meds, etc., I wanted her next to me should anything happen overnight.

Developmentally, Sadie has seen some very good progress. She is reaching for toys with both hands. She had previously only been using her right hand, as her left side of her body is weaker due to the more extensive damage on the right side of her brain. Sadie transferred a toy from her left hand to her right - a task her therapists said may be difficult given her missing corpus callosum (the part of the brain that connects the left and right hemispheres). She is also grasping her bottle with both hands!

Sadie also discovered that she loves to play peek-a-boo, and on rare occasions, she will giggle, which makes her mommy extremely happy. Although, every time I try to capture it on video, she becomes decidedly quiet.

We had our first meeting the neurosurgeon this week to discuss Sadie's MRI results. Overall, he said there is nothing to be concerned about at this point. She will have another MRI in January to continue to monitor the brain tumor, called a choroid plexus papilloma.

Later this month, Sadie will go in for another overnight EEG to monitor her brain activity. We are hopeful that this EEG will show some improvement in the seizure activity in her brain. Sometimes, seizures can occur in the brain, but show very little in terms of outward characteristics.

Sadie will also have her first ERG (Electroretinogram), a test designed to test the visual function of the eye. We hope that we will finally get a definitive answer on whether or not she has any vision in her right eye. The test will also give us information about her peripheral vision, as peripheral vision loss is a potential side effect of one her seizure medications.

There are also a number of "firsts" that we're anxiously awaiting.

Sadie is still working on her head and neck control. We, along with her therapists, continue to give her a lot of tummy time to help strengthen her neck and back muscles. We look forward to the day when she can hold her head up independently.

Personally, we are working on how to respond to questions we get about Sadie, something we've struggled with since Sadie's diagnosis. How do you respond to innocent comments from strangers like...."Is she sleeping thru the night?" "Is she sitting upright?" or "Just wait until she's running around." While I'd rather not lie, the truthful answers or responses seem too heavy for this light conversation. The honest answer would be..."No, she doesn't sleep well because her seizures wake her up every 3 hours." So, in the meantime, we put a fake smile on our face and give our generic reply - "She has good days and bad days."

Overall, the "first" we most look forward to is Sadie's first seizure-free day.

Sadie the fashionista. Status quo.

A few times a week, Sadie and I put her clothes away in her closet. As I hang each outfit, I hold it up to ask her if she likes it. This is also my way of checking if the clothes still fit, as she tends to grow out of them very quickly. Although she can't verbalize it, I think she really enjoys this time, and will often smile as I show her certain outfits. Thanks to her fashion-forward aunts, as well as friends hand-me-downs, she has more clothes in her closet than Mommy!

In other news, Sadie's seizures are still on the high end. She is now having between 7-9 clusters of seizures a day, mostly occurring right after she awakens from sleep or a nap. We continue to work with her neurologist to tweak medications and diet ratios to see if we can gain more control of the seizures, but so far nothing seems to be working. I can't tell you how frustrating it is to see no improvement.

We also saw a new ocularist this week, who fitted Sadie for her third (yes, third) conformer. He taught us how to put the conformer in her eye, as well as take it out. It is challenging to put a prosthetic in our baby's eye every day, but we're getting the hang of it!

We close on the new house this week, and are very excited to finally be settled. We'll also get to unpack all of our boxes that have been packed up since the move out of our home in Charlotte. It will be like Christmas...almost.

Thanks to everyone for the prayers and good thoughts. Keep them coming!

Holland

Shortly after Sadie was diagnosed, my mom gave me a poem that expresses many of our feelings about having a daughter with a disability. Working for many years in the arts, I know that sometimes a song, a theatre performance or a piece of poetry can express much more about your feelings than words alone.

WELCOME TO HOLLAND by Emily Perl Kingsley

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.

No news is bad news. The roller coaster.

I've found that its much easier to update the blog when there is good news to share. Unfortunately, the past few weeks have been quite trying for little Sadie.

Last Monday we made a second trip to the ER. When Sadie was up all Sunday night crying, we figured something was up. We drove her, again, to the ER at Children's Memorial who found that the corneal ulcer was irritated again. We've increased her eye drops and it seems to be healing up fine. Ugh...

Sadie's seizure activity had been decreasing, then last week, for no apparant reason, she started to have more clusters. We've been speaking to the neurologist and dietician, but we can't seem to pinpoint the issue. We're again increasing medications and talking about adding additional meds. At this point, Sadie is on two different seizure medications (Topomax and Vigabatrin) as well as three other medicines to deal with various side effects of the seizure meds. With medicines, special powdered formula, a gram scale - our kitchen counter looks like a pharmacy...or a meth lab.

In the midst of special diets, seizure meds, and eye drops - our little girl is developing quite the personality. She prefers Beyonce to nursery rhymes (Halo is her favorite). She also has developed a liking to Katy Perry's "California Girls." She talks up a storm and moves her mouth trying to talk when she looks at us.

All of her therapies are now in full swing. Sadie has Physical Therapy (PT), Occupational Therapy (OT), and Vision Therapy (VT), once a week. She also meets with a Developmental Therapist once a month to get an overall assessment on how she is developing. We've been working with her OT to get her left hand caught up with her right. Due to the damage on the right side of her brain, the left side tends not to function as well. Last week, she discovered that she can move her left hand to her mouth and will grasp both hands in front of her!

Sadie has a full schedule this week. Her four month appointment with her pediatrician was on Monday. She meets with all of her therapists this week. On Thursday, we'll be at Children's Memorial for an MRI of her brain as well as an appointment with her opthomologist to get an update on how the corneal ulcer is healing and what the next step is for the conformer. The MRI is to monitor her choroid plexus papilloma, a tumor in her brain that can cause a buildup of spinal fluid in her brain. She will get periodic MRIs to monitor the growth of the tumor.

The doctors continue to monitor her progress closely. Our moods are predicated on how well Sadie is doing. If she has a bad day, we have a bad day. If she has a good day, we also do. We had heard from other Aicardi families that the first year is the most difficult. It's a roller coaster of emotions. We just wish that the dips on this coaster weren't so low.