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Welcome to Riley's web page! Welcome to our little girl's page. It has been provided to keep friends and family updated on Riley's progress. Please make sure to sign Riley's guest book and let us know that you were here.
At 7 days old, Riley was first diagnosed with AICARDI SYNDROME.
Aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr. Jean Aicardi in 1965. This syndrome is defined as a rare disorder. The number of identified cases of children with Aicardi syndrome is very difficult to calculate accurately, but has been estimated at 300 - 500 worldwide.
Aicardi syndrome is characterized by the following "markers":
Absence of the corpus callosum, either partial or complete (the corpus callosum is the part of the brain which sits between the right and left sides of the brain and allows the right side to communicate with the left.)
Infantile spasms (a form of seizures)
Lesions or "lacunae" of the retina of the eye that are very specific to this disorder
Other types of defects of the brain such as microcephaly, (small brain); enlarged ventricles; or porencephalic cysts (a gap in the brain where there should be healthy brain tissue)
Aicardi syndrome only affects females, and in very rare cases, males with Klinefelter syndrome (XXY). It is theorized to result from a defect on an x-chromosome.
Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development.
Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Prognosis for these children varies, though all experience developmental delays, typically moderate to severe mental retardation. Published medical information in professional journals is somewhat limited and these articles are written by and for specialists. A limited bibliography of these journal articles can be found in this web site. Genetic research is ongoing into the cause of this disorder and the Aicardi Syndrome Foundation and newsletter member families continue to be active participants in several research projects.
The above information was copied from the Aicardi Syndrome Foundation Web Page.
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Researchers at Baylor have published one of the papers resulting from the information they gathered from many families at the 2004 conference. This is the article about common facial features in Aicardi syndrome.
Facial and physical features of Aicardi syndrome: infants to teenagers.
Aicardi syndrome is a sporadic disorder that affects primarily females and is hypothesized to be caused by heterozygous mutations in an X-linked gene. Its main features include of a triad of infantile spasms, agenesis of the corpus callosum, and distinctive chorioretinal lacunae. Additional common findings include moderate to profound mental retardation, gray matter heterotopia, gyral anomalies, and vertebral and rib defects. To date, no consistent facial dysmorphisms have been described. We examined 40 girls with Aicardi syndrome and determined that consistent facial features appeared in over half the study participants and included a prominent premaxilla, upturned nasal tip, decreased angle of the nasal bridge, and sparse lateral eyebrows. Externally apparent microphthalmia was seen in 10/40 (25%). Various skin lesions (including multiple nevi, skin tags, hemangiomas, one giant melanotic nevus, and a history of a previously removed angiosarcoma) were present in 8/40 (20%). Hand abnormalities were seen in 3/40 (7.5%) and included camptodactyly, proximal placement of the thumb and hypoplasia of the fifth finger. This study clearly delineates the existence of a distinctive facial phenotype of Aicardi syndrome not previously described. We recommend that features of a prominent premaxilla with upturned nasal tip and vascular malformations/vascular tumors be added to the modified diagnostic criteria in order to improve the ability of geneticists to diagnose Aicardi syndrome.
Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
PMID: 16158440 [PubMed - in process] 
Riley Nicolle Spaulding
Born: December 20th, 2004 Weight: 8 lbs. 11 oz. Length: 21.3 inches 
Journal
Tuesday, June 30, 2009 7:09 PM CDT I want to first say thank you all for all of the wonderful messages in Riley's guestbook...I keep reading them over and over with tears...but not tears of saddness, they are tears of thanks for all of you being in our lives and being such wonderful and amazing people and tears that were from fear and saddness but with all of your love and support and prayers aren't as scary anymore. Even though I haven't been updating every single day, I have been to the guestbook at least daily reading all of the wonderful entries from all of you and it has helped me sooooo much- so thank you thank you thank you thank you...
Now for Riley's update:
Riley has had a few tough days. Her oxygen saturations have been all over the charts and at one point she even had a huge drop in blood pressure, drop in oxygen saturations, and even a huge drop in heart rate. All the doctors were called in and they started her on fluids immediately and things luckily leveled out. At one point in the past few days, her heart rate was really low and her core temperature was around 96.2 degrees. It seemed like every time they move her to change her diaper or switch positions so that she doesn't get any bed sores, her oxygen levels dropped into the low 80's and then it would take her over an hour to get back to the 90here they need her to be. Because of this, they decided to start her on a med that is a muscle relaxor/paralitic. This basically paralyzes her so that she can't move around and hurt herself and they are able to keep her oxygen and other numbers at a more steady level. This has been very hard for me because she can't open her eyes, she doesn't move much at all-only a finger or toe every once in awhile, and she can no longer breath at all by herself because her diaphragm is paralyzed as well so the machines are back to doing all of the work for her. It is also hard because, with this medication, she is retaining water and getting swollen. Her poor little face is so swollen and her belly is really seeming so distented because she is really not having any bowel movements or bowel sounds at all right now which means that nothing is moving around in there. They had to stop feeding her and are on ly feeding her through IV which they can TPN and then she also gets lipids (fats) through her IV as well. They are also worried that she may have something called an ellia (illiac?) can't remember the exact word, but it means they are worried that there is a blockage, small twist, or small kink in her bowels. Nothing really showed up on the scan but it can still be a possibility and that would be why her belly is so distented , bloated, and tight.
I have been able to crawl in bed with her a few times in the last few days and just fall asleep with her. It was so nice to be close to her. I can't get up near her head to spoon with her or even really hold her because she has so many lines connecting to her central IV line which is located on the inside of her right thigh, and her ventilator tubes all come from the other side of her, so I lay at the bottom of the bed and rub her legs and hold those adorable little toes until I fall asleep- it is seriously the best sleep that I have had since we have been here...she is just so wonderful.
There is a shift change in all of the residents and the pulmonology team as of today so we have a new pulmonologist. I have to tell you that the other pulmonologist that we had was apparently known for being so good at his job, but he had already given up on Riley and everytime that I would talk to him, EVEN AT RILEY'S BED SIDE , he would talk about quality of life and if we choose to stop fighting we aren't killing her and on and on and on- he had already given up on her and the new doctor seems to be a more positive person. He told us things taht we already knew, but he also had some great suggestions that they are going to try to help make sure that there is no more damage done to her lungs from today forward.
He told us that Riley is a VERY sick little girl. She has Para Influenza 3. THIS IS NOT THE FLU- they shouldn't have even named it like they did. What this is, is a VIRAL PNEUMONIA. Viral, meaning that they have no medications to treat it- no antibiotics will even touch it. This virus has been known to make typical kids so ssick that they are on ventilators and fighting just like Riley is- so this is very serious and with Riley's underlying medical issues and Aicardi Syndrome, this can definitely be.....well, I am just going to say REALLY REALLY BAD. He said that the lungs are able to function when there is some damage to the alvioli (?) (the little air pockets/sacks in our lungs) but once there has been too much damage, there is no coming back and no recovering becuase they lungs just can't make it...and right now, Riley's lungs are damaged and she CAN NOT afford to have any more damage to her lungs. She just won't be able to survive any more damage. Now, some of this damage can come from reflux. This is when we feed her through her feeding tube, some of the food can come up into her asophagus and then make its way into her lungs and then bacteria grow in there and that is how pneumonia happens. That is what they thing may have been causing her to get pneumonia so much this year. In order to make sure that none of her foods reflux into her lungs and damager her lungs any futher, he thinks that what they will do is take out her G-tube button (they call it a mickey button) and insert what is called a GJ tube which basically would feed her by bypassing her tummy and go directly into her intestines so that there is no way for the formula to reflux up into her lungs. From what I understand, they wouldn't have to do any surgery since the G-tube is already in place, but what theywould do is bring her to radiology and with a scope, they would feed this tube into her intestines and then on the outside, I am guessing that it would be something similar to the button that she has now.
I just really appreciated that he is trying to be proactive and trying to make sure that things don't get worse for her right now. I asked him if things were touch and go right now and he said yes. "Things are very touch and go right now, and we can only wait and see what the medications can do and do our best to prevent her from getting any more damage done to her lungs. We are maxed out on the level of care we can give her, we have pulled out all the stops. Now we have to wait and see if she is able to fight this off." I know that things are still just as scary as they were yesterday, but I feel better knowing that this doctor is not looking at Riley like she is already gone. He did also say that he didn't know what she would be like if she is able to fight this off...meaning, how healthy she would be able to bounce back to if everything goes 100 erfect. We will just find that out later... He isn't giving up....and we aren't either...
They have been very concerned with the amount of oxygen that they have had to continue to give Riley- it has been between 65nd 100ff and on since she was intubated... too much oxygen can actually be damaging to the lungs and also to her brain...they have constantly played this up and down game with her. When she needs it, they turn her up and then very shortly after that, they slowly start to turn her down but they have only been able to get her as low as 55nd only were able to leave her at 55or a few minutes. Today, they were able to wean her to 45xygen and she has been there for almost 8 hours. This is really a big suprise. They did have to turn up her PEEP which is an amount of pressure that is at the end of the breath that the machine gives and it is used to kind of "pop" her lungs open. They are doing this because Riley's uppper right lobe in her lung is completely colapsed and her lower lobes are starting to collapse as well. SO that could be contributing to the fact that she required less oxygen today, and I don't know if that is good or bad, but right now, it is so nice to see that...
Yesterday, my dad got to visiting with a lady that is a volunteer here at the hospital and she plays the harp in rooms for patients so she came into Riley's room and played these beautiful lullabies for about 15-20 minutes. My mom came and got me (I was taking a nap) and so I went and crawled into bed with Riley listening to this beautiful music and fell asleep with Riley- it was the most peaceful that i have felt in weeks. They tried to get a video of it, and I will try to post it on here, but I wasn't in the room yet when they took the video so I haven't had a chance to see how it turned out. My dad has some pictures of Riley and I sleeping together while she was playing so I will get those from him tomorrow.
To all of you again, thank you so much for all of your love and support. This has been the hardest thing that we have ever gone through. Jus tthe thought of living without her, physically hurts me...and I am trying really hard to stay positive and not think about that stuff and focus all of my energy on her getting better...but as you will see, in the pictures, the meds are really changing her face and she doesn't even smell like my little girl anymore...but I know that she is in there fighting and i am so proud of her...all of your prayers and support are working- please keep it coming-
We love and miss you all!
Nikki, Aaron, and Riley
A friend of mine ffrom work sent us this and she couldn't have foudn something more perfect for how we have been feeling and how we are trying to cope....Thanks, Brandy, you really touched my heart....
'Only Believe'
Has that trial in your life been going on so long
That everything in you screams, "This is so wrong."
You can't understand, it seems God is far away
As with tears you cry out to Him everyday
If you read God's Word His truth you will see
That He has a job for you and a job for me
ONLY BELIEVE is what He has to say
At His feet this problem you must lay
In His time and in His way
An answer to your problem will be there one day
Keep on believing, don't lose hope
He'll give you His grace enabling you to cope
Keep your eyes on Him as to Him you cleave
He has promised He will never forsake you or leave
Give Him time to work it all out
The devil just wants you to worry and doubt
Praising Him is one thing He's looking for
To bless you is what He has in store
So no matter what, even when you don't understand
ONLY BELIEVE that's what moves His hand.
(Pastor Pat- this is just what you and i were talking about yesterday...isn't it so perfect?)
One last thing- Please check back tomorrow- I have a really awesome story about some ladies that I met through some turtles...Hee Hee Hee...you will understand more later...much love to you all!!!!!!
Read Journal History
Hospital Information: Fairview University Medical Center
2450 Riverside Campus
Minneapolis, MN 55454
We are home!!!
Links: http://www.firstgiving.com/teamriley STROLL FOR EPILEPSY 2007 DONATE HERE!!!
http://www.aicardisyndrome.org Aicardi Syndrome web page for friends and family!
http://quiltsoflove.com/quilt_2005/riley-ns/riley-ns.html Riley's Quilt of Love
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