PAISLEY IS GONNA BE A BIG SISTER

I am fourteen weeks pregnant with a baby girl that does NOT have Lissencephaly!

That's right, and she wasn't a big surprise either. Well the fact that she is a girl kind of is, because we all were so sure that she was going to be a little boy. Of course Paisley fills our hearts with joy and we're very happy with her and how far she's come from our initial expectations since her diagnosis, and we want someone else to love and cherish her with us. There also is that big part of us that wanted to know what it's like to watch a child grow and learn and be independent so bad. I think we deserve it and I think Paisley will be motivated.

You might be wondering how I have all this good news already. This is kind of a don't-judge-me-until-you-walked-in-my-shoes thing. After our meeting with Paisley's genetic doctor we were told that we were safe to have healthy children in the future and had maybe a 1% chance of the ILS gene occurring again if Brandon or I had tiny flipped data in our 17th chromosome. Not likely. Awesome!

The moment I became pregnant, that 1% is HUGE. 1 in 100 didn't sound good enough for me. This couldn't happen again! What were the odds of having a baby with Lissencephaly in the first place, right? I was worrying myself sick and I knew I wouldn't be able to have a happy and healthy pregnancy unless I just had that peace of mind. I knew the baby didn't have Liss, but I just had to have the proof.

I made the hard decision of having the Chorionic Villus Sampling (CVS) test done. Dr. Roussis at the Fort Sanders Perinatal Center here in Knoxville did it two weeks ago and I would not have had it done if it wasn't someone as experienced as him doing it, with the risks involved. He is a high risk OB doctor who I also saw with Paisley, and even though it sucks being a high risk pregnancy, I love him and that whole office! His hands are the only ones I would put mine and my babies' lives in.

The test was uncomfortable, but it was all the waiting afterwards for signs of miscarriage and the test results that was the painful part about it, especially since my insurance didn't get me rapid results. I really just didn't feel "right" for a week after the test. It was pretty scary, but now that I feel great and have wonderful results, I can finally relax and enjoy this pregnancy. It was well worth it. I definitely made the right decision for our family. Plus I got to know the gender really early! If any other mothers out there are worrying about this test and want to talk about it I can tell you everything I experienced with it so feel free to email me because it was really hard to find good stories with results and everything on the internet while I was going through it.

We love our baby girl with Lissencephaly and we love our baby girl without it. It's like being new parents all over again, kind of. Paisley is going to be a great big sister sometime around May 19, 2013.

Update... On the Past Six Months.

Paisley is now 18 months old, I turned 22 a few days ago, and Brandon turned 25 in August. Paisley is very vocal, blowing bubbles and spitting everywhere too. She loves to say "Boom", other than that it's still a lot of Oohs and Aahs with an occasional consonant thrown in. Paisley is a biter and she thinks it's funny. I finally had to stop breastfeeding her at 12 months because my milk supply was getting pretty low and with nothing else to do she would bite. There's really no good way to discipline her or tell her "no" yet so I just cut her off cold turkey. She's still not reaching, but has developed an obsessive need to scratch EVERYTHING. It was explained to us as "surface scratching" and it's just a sensory thing. It can sometimes interfere with basically anything we're doing though because she will get so into it. Still not sitting up independently. She can prop sit for about thirty seconds on a really good go.

She still goes to therapy all week. PT twice a week for 45 minutes, OT twice a week for 30 minutes (they took one session out a week for about a month because she wouldn't use her hands, I was mad), and Speech twice a week for 30 minutes (one session is still feeding, and one is actual speech!). We still see our amazing early interventionist, Andrea, once a week and I got Paisley into a research program called Early Learning Games (IF YOU HAVE A CHILD WITH DELAYED DEVELOPMENT AT ABOUT A 5 - 8 MONTH OLD LEVEL AND ARE IN THE NEARBY AREA PLEASE LET ME KNOW). Early Learning Games is a study that the Puckett Institute in North Carolina is doing where an early interventionist comes to the house once a week and teaches me how to play games with Paisley to stimulate development, learning things like cause and effect, etc. It is so much fun, it's really helped Paisley so far, plus the data will help other children like Paisley. If you're interested in knowing more or what kind of games we play, please let me know. I email back or if I get a lot of replies I might make a post explaining it thoroughly. Our EI for the games comes from 2 hours away each week so it can probably branch out to you guys a bit.

Nothing new with the eye doctor. Our rehab doctor was really excited last time we went to see her. She thinks Paisley's development since seizure control is very encouraging and wants Paisley sitting up independently by the next visit... in March. We're still a long way off so I feel like we have a deadline and I want to get to it!! We go for an EEG on January 15th and depending on that we might take one of her three daily doses of Topamax out. I would love to do that and have her more active, but I also see little triggers and worry about seeing seizures again. For an example, there is a toy at therapy that is spun and lands on a letter of the alphabet with an animal that starts with whatever letter it lands on and it makes the animals sound... So imagine a yak or turtle sound if you can. It's a very low frequency, slow sound. Paisley literally flinches, goes crazy with her eyes, and just looks really disturbed. It almost looks like an infantile spasm which just really freaks me out. I would really like to get her doing some sound conditioning if her rehab doctor will look into it for me.

I really think that's about it for her development/doctors/therapy right now. I wish I had more time to post so I could be a lot more thorough for our family members and for other Liss families. I will try to post more pictures on Paisley's Facebook page and try to post more on here as things happen. I really will! So don't stop reading. Maybe some videos too!

Prepare For Update Spam

So sorry I have't posted in months! A lot has been going on with our little family, but I am about to fill you guys in with every little detail and upload a lot of pictures since my absence, starting with this post I found: http://www.huffingtonpost.com/maria-lin/special-needs-parenting_b_1314348.html

Be patient for more.

Cinco De Mayo

Today we went to Babies R Us with Charlie and she bought Paisley early Birthday presents! We got a Baby Bullet since Paisley will be on pureed foods for a long time, possibly forever. Now you know me, I DON 'T COOK, but Paisley is underweight and really needs the nutrients most babies her age get from regular "adult food". I'll have to make up a review once we start using it.
We also got a tray for Paisley's Bumbo seat. Even though her chair will have a tray when it gets here, I want to try things with the Bumbo, especially since she still has to work hard to sit up in the Bumbo, unlike the easy-as-pie chair. She actually figured out how to hold on to the edges of the tray to keep herself more steady! Here's some cute pictures before she turned into angry Hulk and ripped the tray off! Not even kidding!

May Is Here!

The neurologist visit went great today. The doctor told us she looks and acts like she is doing very well. We're staying on the same dose of Topirimate for four more months and then possibly tapering down. That makes me nervous, but she wouldn't be as drowsy during therapy, etc.
I hurt my back carrying Paisley around all weekend since we were pretty busy. I can't wait to get her Squiggle chair on June 4th!

Birthday Pictures

One last photo dump for the day: 

First Birthday Pictures by Sherri Hedberg, mama of our favorite family.

Okay, so she was really tired, but we had a blast!!

May is Creeping Up

Alright, it's getting close to Paisley's first birthday. Eleven days to be exact, and I never thought it would bother me this bad. Of course right now we're overwhelmed with our illnesses. Brandon is still struggling with his diabetes and insulin pump, and now I'm having to go to the GI doctor this week as a last resort to figure out what's going on with me. I do, however, have to be thankful there is nothing new as far as Paisley is concerned. No seizures, no feeding problems, and she is so happy.

I think this birthday is bothering me so bad because day to day she just seems like an infant (mentally and developmentally a 3-4 month old) and I forget about her developmental delay so often and just treat her like a never-aging little baby. When I say she is "X months old" people usually don't think twice about it, but now when people will ask me how old she is I will say "One", and it'll be very obvious that she is not "normal". People just relate better to milestones and since she is not reaching any developmental milestones this is the big one for us. It makes me so much more aware that she is aging, this is going to get harder and harder as more time goes by.

Anyways, Paisley is smiling all day, rolling side to side frequently, making different sounds (still no "babbling"), and she is starting to reach out and grab things. I still wouldn't call it intentional, but I believe she is noticing there is actually a world around her and she keeps those little arms extended to grab anything she feels. She rips out my hair and scratches my face, but she is exploring and I am so happy about it.
We started doing stage 3 baby foods (mashing up the chunks now, after having to dig a noodle out of her throat) and we'll give her a bite of frozen yogurt, mashed biscuit, etc. Her speech pathologist has mentioned starting actual SPEECH therapy, since she is eating fine right now.

At her WIC check-up she is in the 23rd percentile for her weight (under-weight), 10th percentile for head circumference (tiny-head, but growing consistently since it's always tiny), and in the 98th percentile for her height... That's right, they're telling me that my baby is going to be close to six-foot tall. I'm 5'2, so she better be walking by the time she is towering over me. While the nurse at WIC was measuring and weighing her, she  asked, surprised, if Paisley wasn't sitting up yet. I just told her that she has a brain problem and she stated, "Oh, I was wondering if there was something wrong with her". Got to get used to remarks like that, I guess. I don't know, I might compare this to her stats we get from the pediatrician because it's hard to imagine someone in my family being that tall.

Also at WIC, they told me (even after I brought a doctor's note) they have to take away her baby foods at age one. Since she is still on a pureed diet we might have to invest in a food processor soon to make food for her. I guess I knew this was coming since she is getting so scrawny and needs more "grown-up" nutrients since she is a big girl now. She will probably be moved up to whole milk (age 1 to 2 needs the fats for brain development) with Carnation mix for weight gain, or maybe even toddler formula. I can't wait until we see her pediatrician on the 18th to figure out her new diet.

On Tuesday we go to see her neurologist which always makes me nervous. Last time was the only time we got good news and I hope it continues. I just personally think she is doing so well. Everyday.

MTAC Photos

Here's the photo dump from Middle TN Anime Convention during Easter Weekend. We were the cast from Sailor Moon. Paisley was Chibi Moon without her pink wig this time, haha.

Everyone really loved Paisley and she loved all the attention. I love this picture because it really describes how she was the whole weekend in her stroller. LAID BACK.

This was our whole group. My best friends.

Last one, Paisley as Spike from My Little Pony: Friendship is Magic.

Just because I'm a responsible mother and Paisley is differently-abled doesn't stop us from having fun!

April Update

Paisley is getting so big! Her PT was increased a little bit, and she's still rolling over occasionally by herself and reaches out sometimes. She's holding onto things a lot better and I really wanted bottles she could do more with since eating is her favorite thing. The only ones I found that we liked was tiny 2 ounce disposable bottles that already have formula in them, and you also have to buy the disposable nipples for them separately too. They're too expensive to use them all the time, but they really are perfect. I did also get an interchangeable Advent and Tommee Tippee bottle and sippy cup with handles to see if she likes either of those nipples/bottle shape. But I'm still on the lookout for the really skinny bottles!

We went to Paisley's 2nd convention last weekend in Nashville (MTAC), and she had a blast! She loves being pushed around in her stroller, watching everything going on, even if it's for hours at a time. I dressed her up and she loved all the attention and flashes from the cameras. Thank god she doesn't have seizures triggered by flashing lights!

Pinkie Pie and baby Spike. I'll do more of a photodump later!

Paisley's first birthday is in 28 days, and she is going to have a big My Little Pony birthday at her Coco's house. On June 4th, shortly after her birthday, we get her pink wheelchair. We are so excited!

Hand Splints!

Keeping my hands open,
but still not out of my mouth.
Sitting in my Bumbo like a big girl!

Latest EEG

Done 2/28/12, showing no more infantile spasms.

CLINICAL: 9-month-old with a severe CNS dysgenesis and infantile spasm with good level response to ACTH. Other medications include Topamax.

TECHNIQUE: 16 channel routine EEG.

INTERPRETATION: Recording begins with the baby appearing awake. There is a moderate amplitude theta and delta showing mildly abnormal distribution and lack appropriate gradient. There is no effect of strobe light stimulation. Sleep is recorded after 20 minutes. There is during sleep, frequent high amplitude rhythmic beta from the right posterior quadrant. It is seen independently as well from the left posterior leads. Sleep architecture also is abnormal with no spindles or vertex waves. There is a high amplitude theta and delta polymorphic in nature. The study, however, contains no epileptiform abnormally.

IMPRESSION: Continued abnormal EEG due to excessive slowing and relative suppression of physiologic activity as well as unusual beta in posterior derivations consistent with a history of cortical dysplasia . Epileptiform activity is now absent pronounced interval improvement.

Video of Paisley Rolling Over at 10 Months Old

Info

I'd like to take time to post a few links about Paisley's condition for those who still don't understand (it really is hard to grasp) or those just now joining us on our journey:

Paisley's diagnosis: Lissencephaly and some Polymicrogyria
Why Paisley cannot see: Cortical Vision Impairment
My biggest fear: Feeding Problems
Paisley's PREVIOUS seizure type: Infantile Spasms
Treatment: OT, PT, SP, Vision Specialist, and of course, anti-seizure medication (Topirimate)

Don't have much time here!

I'm having family from both sides come over so I really need to clean up, but I thought I should blog for a minute. Paisley is still seizure free and is cooing her little head off. She smiles not only at the ceiling fan, but us now. I took the first half of an infant massage class and will be taking the next part on Tuesday. Paisley and I really love it! I read a book the instructor gave me and it even talks about the ACTH hormone in the brain during massage and during stress so it's really something I look forward to! I also get a follow up visit from the vision specialist that saw us two weeks ago. I really learned a lot from her. Paisley got her SSI back, so we still have the insurance she needs. Keeping my fingers crossed that things stay this good! Sorry so short xoxoxo.

GREAT DAY!

Paisley got hooked up for another EEG today and was a champ like usual. I'm not a doctor, but I could tell that the zigzags from her brain on the screen actually had some order to them. When the test was over we got our sticky haired baby and walked over to Dr. Gammeltoft's office to get the news. He told us that the EEG wasn't normal (probably never will be "normal"), but it was a tremendous improvement since her last chaotic EEG. He didn't see any sign of infantile spasms and there was minimal seizure activity. He was shocked at how good it turned out and said to keep fingers crossed for the seizures. So far the ACTHar has worked wonders.

 Holding her head up during tummy-time like a big girl! Picture courtesy of Andrea, Paisley's developmental teacher.

And since we left the office, Paisley has not stopped cooing! This is something she hasn't done since we started her treatment, and I am so excited to have my vocal, smiling little baby back! Andrea came over for her weekly visit with us and Paisley did such a good job holding her head up for her today!

Equip

Today, Paisley got to meet Dr. Trainer, her physical rehab and medicine doctor. I really liked her and we were only there for an hour which including checking in and out for a first time visit is nearly impossible! She got right to the point and is ordering some equipment for Paisley. First of all, we're getting a bathing chair. Right now our bathing situation consists of using a tiny infant bathtub that's very uncomfortable, or Brandon or myself sitting in the shower trying to hold a soapy, slippery baby. Here is the bath chair she's ordering:

Also, she is ordering Paisley a fitted stroller/chair with a tray which will give Paisley a lot more support for playing and will be easier than trying to carry this fat baby in an infant carrier seat when we go out. I'm not sure which model we are getting, but I do know it is going to be pink!

And last but not least, she's ordering Paisley soft wrist splints (which will be pink too, of course!) that will hold  her thumb out for better grasping and will give her wrists support so she won't be so stiff and curled up. One of my big concerns this week is how Paisley has been holding her left arm up to her chest with her fingers curled. I don't want her condition to cause anymore anomalies that she wasn't already born with. It's probably going to take a few months to get everything going with the insurance, but I am so excited to get more help for my baby.

Progress?

Paisley now grips skinny toys, cloth toys, and doll hair with not only her preferred left hand, but also her right hand, and for many minutes at a time. My baby lost her smile to infantile spasms, but when I pulled down Paisley's bottom lip to show my friend her new teeth, she smiled! I did it again, and she smiled again. And I did it again, and it wasn't funny anymore... But the best thing that has happened is last night Paisley was lying in bed half way on her back and her side. I noticed she was rocking her shoulders trying to roll completely over on her side to get more comfortable. I watched her for a while and finally had to grab her leg to help her roll over, but I still have never seen her put effort into moving like that! It's funny how the littlest things like this make me so grateful and so hopeful.

We get to meet with our helpful developmental teacher, Andrea, and a visual specialist in the morning, then we get to meet a social worker from UT Genetics, and then I get to go apply for Children's Special Services for extra help. Taking the day off, so busy!

Sunshine

Two weeks of a high dose of ACTHar, and now we're entering the final two weeks of tapering off of the hormone. Still no signs of seizures/spasms! But as we stop the ACTHar therapy, the more nervous I get. Even though Paisley hasn't been her self during these two weeks, it's still so nice to have a more aware baby. Paisley had her nine month check up and it went well. She's growing just fine!

This is kind of old news, but I haven't had a chance to update: UT Genetics called and gave us the okay to have more children. Brandon and I's chromosomes are normal and they even did extensive research in our 17 chromosome. They give us a 1% chance of this happening in a future pregnancy and that's because there could be something so small that they just can't pick up and it's definitely not impossible. Prenatal testing would be recommended. We not really sure what that means for us and what we're going to do with this new information. We're kind of a mess when it comes to our future family.

But here's a brand new picture of Paisley! I bought her a sock monkey and a Lemon Meringue doll because they have hair to hold onto and she really likes this doll at therapy with hair. Her grip is getting good!

Much Needed Update!

The ACTHar injections usually stops infantile spasms on the 3rd day of therapy. Not much changed the first couple days and Paisley had a cluster in the morning on the 3rd day and a really bad seizure that night. It didn't look promising. On the 4th day of injections she didn't have any clusters, but another bad seizure that night too (maybe not a infantile spasm, it looked kind of clonic/tonic; I don't know). That was on Monday and that was her last seziure/spasm, and it is now Friday! One more week of the high dose (2 shots a day!) and we start to taper off. So far so good! Althought the doctor is expecting the spasms to start up again after the therapy is done.

A home health nurse comes twice a week to check Paisley's weight and blood pressure. Everything is going well with that, except she has gained a whole pound in a week. She is so fat in the face, legs, and belly. She has been very grouchy and very hungry. When she eats she sounds rabid! She also has teeth coming in now. FINALLY, and it's not just one or two, but FIVE teeth really popping out. I'm going to miss that gummy grin. Her therapies are going great. She is rolling from her side to her back, holding on to certain rattles for minutes at a time, and holding dolls by their hair, haha. She even tracked objects a little bit.

I colored just my bangs a dark auburn, almost black. With my light face and bleach blonde hair it's a lot of contrast and I am more appealing for Paisley's eyes to focus on. I don't think many people like it, but my baby does so oh well! Also, I'm hoping to start a new shift at work to have more time with my baby and hopefully not miss so much work to go to her therapies, doctors, etc.

Keep sending those good spirits our way!

ACTHar Begins

Yesterday Brandon got his new insulin pump! We had to go to a really long class, but so far his blood sugar has been awesome and he feels better. After that we had to do Paisley's barium swallow study. It was creepy. Basically a speech pathologist fed her barium in a thin liquid from a bottle, then a thick liquid, and then some baby food while they watched her eat on a video X-ray. She has penetration in her airway, but she clears it and is not aspirating. She also has delayed swallowing. They said it's nothing to worry about now with her thin food, as long as we keep her elevated while feeding.

This morning we had to go to Children's ER to give Paisley her first ACTHar shot. She had to be in a controlled setting incase of a reaction and a home health nurse had to show us how to do the injections (even though Charlie could do it with her eyes closed). She tolerated it fine and barely cried. So two more weeks of two shots everyday, then we start tapering down to finish the four week treatment. I can't wait for this to be over, and even more, I can't wait for this to start working (even if it's just while she's doing the therapy). I need my baby to progress in development to have a longer, more healthy life.

ACTHar

Paisley went to the neurologist today. Of course, that came with more bad news. We went a week earlier than our scheduled appointment because of Paisley's more severe and frequent seizures. She's on the highest dose of Topirimate (Topamax) she can be on right now and it's barely scratching those infantile spasms. Gammeltoft finally recommended ACTHar, a 4-week hormone shot therapy. Now before I tell you all about ACTHar, Gammeltoft does not really expect it to stop the spasms. Since it is a hormone steroid, she can't be on it very long. We're in trial and error and it's a good drug for kids with "more normal" brains who have the spasms, but it's worth a shot because the next drug, Vigabatrin, is harmful to eye sight.

Here's some info from the ACTHar website:

ABOUT ACTHAR: Acthar is a prescription medication containing the hormone adrenocorticotropin (“a-DRE-no-cor-tico-tro-pin”) that has been used for over 50 years to treat children with infantile spasms. Acthar may work by both helping the body produce natural hormones and by having a direct effect on the brain. It is designed to slowly release the medication into the body after it is injected.

HOW ACTHAR WORKS IN INFANTILE SPASMS:
Approved by the FDA, Acthar was proven to stop spasms and hypsarrhythmia. In one clinical study, 87% of children had no spasms and no hypsarrhythmia by week 2. Some parents reported that their children’s spasms disappeared as early as day 1 following the start of treatment. On average, children responded to treatment at day 3. Children with an underlying disease or injury to the brain also benefited from Acthar. However, every child will respond to treatment differently.

If the ACTHar shots do not help or her spasms return after the therapy is over we will most likely resort to Vigabatrin.

Gammeltoft said that the when geneticist told us that Paisley's lissencephaly was mild and that she may do better than originally thought and may have a normal life span was she was totally wrong. He got kind of offended at the optimistic prognosis and that really upset me. I feel like he takes every little bit of hope that I have away. He said she's about like a Miller-Dieker patient even though she doesn't have the rest of the deletion, and that if she never learns to roll over her lungs will give out prematurely.

I just hope this ACTHar knocks the spasms out so Paisley can go through therapy better and learn motor skills! Today was a bad day.

Second EEG Report

This was done December 27, 2011. Sorry this is so late!

CLINICAL: A 7-month-old infant with seizures relating to severe lissencephaly. Previous routine EEG 12/07/11 demonstrated multifocal sharp waves and diffuse relative background attenuation and slowing, though not satisfying all criteria for hypsarrhythmia.
TECHNIQUE: A 6-hour 18-channel outpatient video EEG telemetry recording.
The study started at 8:46 a.m. and completed 2:15 p.m. The study contains numerous, fairly prolonged clusters, very apparent infantile spasm. Each spasm is very brief, lasting perhaps 0.5 seconds, with flexion at the hips and elbows and slight shoulder adduction, often with eyes wide open and an apparent blank stare. There is only very subtle trunk muscle involvement. The majority of the clusters are associated with a discontinuous background with apex of relative attenuation lasting 1-2 seconds. The background is seen also during stretches of the study and even on occasion during sleep. There are multifocal sharp waves and pikes of variable morphology and very high amplitude and the background is generally characterized by chaotic theta and delta slowing. The spasms are not time-locked to periods of attentuation or spikes. Sleep architecture is poor, though at times there is some spindle activity at the vertex. The waking background is also continuously abnormal.
IMPRESSION: This is an abnormal video EEG telemetry recording, capturing numerous clusters of apparent infantile spasm. The background shows hypsarrythmia for the majority of the study and is continuously abnormal. The study is very consistent with symptomatic infantile spasm.

This was taken that day. She was so good! We have another EEG scheduled in a few weeks after we start ACTHar.

Genetic Results

Paisley's lissencephaly is indeed a genetic disorder. She has deletion in chromosome 17p13.3, a small segment in her 17th chromosome.

"Deletion of the Lissencephaly gene (PAFAH1B1) is associated with isolated lissencephaly, which results in a range of clinical features, including profound to mild intellectual disability and seizures. The clinical feature typically correlate with the degree of lissencephaly and cortical thickness." With that being said, the degree of Paisley's lissencephaly is incomplete and her cortical thickness is normal so the geneticist called her lissencephaly "mild" which is great news! She doesn't expect Paisley's life to be dramatically shortened and doesn't expect Paisley to have the most severe complications resulting from lissencephaly. Although Paisley's lissencephaly is incomplete, her brain is still 100% malformed with lissencephaly in the back of her brain, cobblestone in the front, and polymicrogyria all over; nothing new and her physical and mental retardation is still severe in that way.
With deletion in chromosome 17p13.3 also comes Miller-Dieker Syndrome, which is very severe and comes with a poor quality of life. PAISLEY DOES NOT HAVE THIS. To have Miller-Dieker, Paisley must also have another deletion in the "YWAE" area? Don't ask me to elaborate on that one, I just know she does not have it!
Paisley's condition was not brought on by any infection, virus, trauma, stress, drugs (which I don't do anyways!), or whatever else people want to ask me about. It could affect future children of our's if one of us have a chromosome that is inverted: when a segment of your chromosome is turned upside-down from normal. Completely normal people can have it because all the data is still there and works, but when it's met with someone else's (baby-making) it can twist up trying to meet the other's normal chromosome. Brandon and I did bloodwork to cancel that scenario out. It could've simply been a freak accident (bad egg, sperm, etc.).

Genomic Microarray Analysis Report
Abornal Microarray Result arr 17p13.3
Interpretation: Microarray analysis using a whole genome oligonucleotide array, which includes the subtelomeres, pericentromic regions and known genetic syndromes, detected a clinically significant finding based on current literature. Fluorescence in situ hybridization (FISH) testing, dated 1/19/12, has confirmed the deletion for this specimen.
Alteration 1: Clinically Significant CNV. A 931 kb single copy loss was detected at 17p13.3 (chr17:2366339-3298212). This deletion contains 2 OMIM genes, as well as 15 additional genes. According to literature reports, deletions of this region, including the gene PAFAH1B1, are associated with isolated lissencephaly. The clinical features are reported to range from profound intellectual disability, epilepsy, spasticity and shortened life span to milder forms with intellectual disability and infrequent seizures. The clinical features typically correlate with the degree of lissencephaly and cortical thickness. This deletion does not include the YWHAE gene which has been associated with Miller-Dieker syndrome. Clinical correction is recommended.
Recommendations: Genetic counseling regarding the significance of these results is recommended. Parental testing may be performed.
Microarray Summary: Microarray analysis was performed on this specimen using the NimbleGen CGx-3 array whcih includes 134829 oligonucleotides probes.



So I'm most likely going to Vanderbilt because last night Paisley had such a severe seizure that she could barely breathe and she was completely out of it and unaware. It was the worst one I have seen so far. At least she only has significant ones at night now.

Better Late Than Never

So sorry I haven't been updating this much. Where did I leave off?
We met with Beth and Martha, the OT and PT gals and they were really nice! They will be doing Paisley's therapies together for better progress. I'm really excited about it!
We visited Dr. Damron (the pediatrician) last Thursday and he sat with us and really listened to all my concerns. He agreed with me that we should get a second opinion and told me to just say the word and he'd have a referral sent to Vanderbilt. He did, however, tell me to call Gammeltoft to see what his next step would be since Paisley is on the highest dose of Topirimate and it isn't working. Gammeltoft said to give it two more weeks and then come in... I can see Vanderbilt in our future.
Paisley's seizures/spasms are about the same, nothing new for us really. She's been extra tired from therapy, but overall pretty happy. Paisley did develop thrush on her tongue, but I notice every little thing right away so I think we got that under control before she even noticed anything.
The genetic doctor called about her results and wants us to come in tomorrow (specifically ALL THREE OF US) to discuss them. I'm pretty scared to be honest, because they said if it was normal they'd call to tell us and schedule for us to come back IN A YEAR. And the weird thing is, when we saw Damron he told us he got the first part of the results and said they were normal. I told him they never called me about it and he said they do a second part, more micro-stuff, and will call after that... and they did. Wish us luck.

Opthamologist Reports

This is Dr. Schmitt's letter to Dr. Damron on November 18th, only ten days before Paisley's MRI. We went in thinking she might just need some baby glasses, never imagining what we were going to face.
I had the pleasure of seeing Paisley in clinic on November 17, 2011. This six-month-old girl was brought in by her parents due to concerns that she does not see well. They have noticed that Paisley does not appear to fixate on anything. They have not seen any shaking of the eyes. They also note that Paisley has other developmental delays and is not pulling or reaching for objects.
On examination I cannot demonstrate any fixation or following behavior. I am able to elicit opticokinetic nystagmus with both the right eye and in the left. Pupils are slightly irregular but equally reactive. Motility is full. There is no strabismus. There is no nystagmus. Anterior segment is remarkable for punctate polar cataracts. Dilated funduscopic exam shows normal optic nerve, macula, vesseks and periphery, Cycloplegic retinoscopy shows moderate hyperopia.
I discussed with Paisley's parents that I agree that her vision is significantly behind what we would be expecting for her age. There are punctate cataracts which are not visually significant at this point, and, aside from this, the eye exam appears normal. Of note, the optic nerves areof normal size and I do not find any abnormality of the retina. With this in mind, it is likely that the decreased visual function is due to cortical visual impairment. I have recommended an MRI to evaluate the brain and orbits, and we will be setting this up in the near future. I did discuss with Paisley's mother and father that given her developmental delays it is possible that she will also need referral to pediatric neurology. I will follow up with you on the results of the scan.


Short report from follow up visit by Dr. Schmitt, on January 17, 2012.
8 month old female with CVI, polymicrogyria. seen by Gammeltoft. EEG nl, then developed infantile spasms ~ 8 per day. Mom sees eyes shaking now ~ 1 month ago.
Exam: No F and F (?), no reaction to light
Ant Seg: punctate cataracts
A/P 1. cortical visual impairment, infantile spasms, 2. cataracts polar punctate
Follow up in 6 months.

Basically, nothing as changed. At least it's not worse. She told us that her vision will improve once her neurological condition does. As far as Gammeltoft is concerned, it's not. I am so excited for PT and OT tomorrow morning. Let's get going, prove 'em wrong!!

Speech Therapy

Okay, I should probably call it "Feeding Therapy" right now. Paisley was so tired after taking her medicine she did not cooperate much. Her eyes were heavy as she took her bottle, and when Emily (the speech pathologist) tried spoon feeding her, it was like feeding a lifeless doll. She was out. But she got the idea of it and hinted a few things to work with her during feedings. She will be doing 30 minutes once a week. I'm hoping to schedule speech on the same day with either PT or OT. Emily did suggest a barium swallow study to make sure when she's choking or gagging during feeding that she is not aspirating, which I have been thinking about anyways. That is scheduled for Feb 2nd. I really like Emily, she is young and really sweet. Paisley gave her the cold shoulder today, but I think it was just the time of the morning. I also liked the Blount Memorial Pediatric Rehab at Springbrook. Thumbs up, so far!

Busy Week for Baby Girl,

Paisley has a lot to do, and I will do my best to update this with everything going on. Monday we register for her therapy at the rehab center at Springbrook and go to orientation for her speech/feeding therapy. Tuesday we go the eye doctor to check up on her cataracts and vibrating eyes. Thursday we go to orientation for her physical and occupational therapy, and then we're going to her her pediatrician for an examination and possible referral to see a second opinion. I like our neurologist, but I feel like he's not agressive enough, mostly bc of the condition of Paisley's brain (like she's too broken to even try). The 75mg of Topiramate she's on seems too be helping some, mostly her awareness, but she still has multiple clusters of infantile spasms a day and I want them stopped completely.

For those just now catching on, infantile spasms are a type of seizure that are very dangerous to Paisley's ability to develop more motor skills, and could make her lose the very few she has right now. My concerns with regression became real when Paisley seemed to have trouble breast feeding. She takes a bottle fine, which is a lot easier than a breast, but she does leak milk from her mouth with both forms of feeding (she is in speech therapy to help with her bottle and spoon feeding). Sometimes I try to think that maybe she is just to the point where she is no longer interested in breast feeding, because from what I read at eight months that can be very likely. But I feel like I know my baby well enough to know that's not the case; I believe it's getting harder for her since her seizures started and she resorts to the easier alternative. I won't be able to handle my baby losing her ability to eat. They have to stop now.

Stupid

Somtimes I have those days where I feel like the only reason I'm living is because I have to take care of my daughter. Today happens to be one and it's probably the worst one I've had in a while.

Today, Then Tomorrow

Genetics went fine today. Nothing new, just took some bloodwork from Paisley and we'll hear back about sometime in the distant future. Gammeltoft called us to come back to him tomorrow. I am just not fond of neurologist visits. We always get bad news.

TEIS's Evaluation

TEIS evaluated Paisley on December, 16, 2011 for eligibility to be in the program. Thankfully, yet unfortunately, she was accepted. Just a little peek into Paisley's abilities.

RELEVANT HISTORY: Paisley is a seven month old girl born at 36 weeks gestation with a birth weight of 5 lbs and 3 oz. Pregnancy was complicated with UTI's, hypothyroidism, and preeclampsia. Review of Paisley's medical records indicates that she has severe dysgenesis with this in the migrational spectrum with a mixture of lissencephaly and cobblestone cortex or pachygyria.
HEARING AND VISION SCREENINGS: A functional hearing screening revealed that Paisley startles at loud sudden noises An audiological evaluation is recommended if concerns arise. Paisley is followed by ophthalmologist, Dr. Allyson Schmitt and identified to have punctuate cataracts and decreased visual function due cortical visual impairment.
EVALUATION TOOL: Battelle Developmental Inventory - 2nd Edition (BDI-II)
SUMMARY: In the area of adaptive development, Paisley is breast and bottle fed. She reportedly is coordinated in her sucking movements however Paisley often leaks formula from the corners of her mouth. She eats Stage II baby foods and mouths the food using up-and down jaw movements but often pushes much of the food with her tongue. Paisley does not yet use her lips to remove food from an eating utensil held by an adult.
In the area of personal social development, Paisley responds when held and shows awareness of other people. She smiles or vocalizes in response to adult attnetion, and expresses her emotions. Paisley shows awareness of her hands. She does not yet desire to be picked up or held by familiar people.
In the area of communication development, Paisley responds to nonspeech sounds and voices outside of her field of vision. She is sometimes soothed by a familiar adult's voice, and turns her head toward the source of sound. Paisley produces differentiated cries and produces one or more vowel sounds. She does not yet babble or vocalize to express her feelings.
In the area of motor development, Paisley maintains an upright posture at an adult's shoulder and holds her head erect for one minute when held. She lifts her head and holds it up while lying in a prone position and brings her hands together at midline. Paisley holds an object very briefly in her hand. She does not yet turn from a prone to a supine position, unassisted or hold her hands in an open position when not grasping an object.
In the area of cognitive development, Paisley reportedly shows anticipatory excitement when placed in her chair at mealtime. She responds positvely to physical contact. Paisley does not yet turn her eyes toward a light source or visually attend to a light source moving in a vertical direction.
SCORE SUMMARY REPORT: Paisley's performace on the Battelle Developmental Inventory- 2nd Edition indicates 25% delay in the area of personal social development and 40% delay in the areas of adaptive, communication, motor and cognitive development.

First EEG

Paisley's first EEG. I will post the second when it is available for me in medical records.

CLINICAL: A 7-month-old with CNS dysgenesis and suspected seizures,
INTERPRETATION: Study begins with the baby awake and taking a bottle. The background is continuously abnormal with frequent paroxysmal high amplitude theta and delta, mostly over the posterior quadrents; also at times more diffuse. There is general suppression of activity over the frontal regions. There is an 8-9 Hz rhythm also in the posterior quadrents which is intermittent and fairly uniform and of moderate amplitude. Sharp waves are present and of very high amplitude. Late in study, there are some apparent myoclonic twitches or jerks. During this stretch, sharp waves appear somewhat more distinct but are not synchronized with the jerks and they are also during this stretch brief 1-second epochs of relative background attenuation. Sleep is seen late in the study. There is no normal sleep architecture and overall little change in the background. rhythms during this stretch.
IMPRESSION: This is an abnormal EEG consistent with the child's history of widespread migrational dysgenesis. There is evidence of diffuse cortical dysfunction. There also appears to be an increased potential for seizures, given the presence of frequent sharp waves. Although the background is at times demonstrating chaotic slowing, hisarrhythmia is not present.

MRI Reports

I can only tell you a few things about this report. I am posting this for others with a similar report to compare.

GOOD NEWS: MRI OF THE ORBITS WITH AND WITHOUT CONTRAST
Orbital contents are symmetrical and normal in appearance. There is no abnormal signal, mass effect, or enhancement.
IMPRESSION: No abnormality of the orbits

BAD NEWS: MRI OF THE BRAIN WITH AND WITHOUT CONTRAST
The craniofacial ratio appears to be low-normal. There is extensive polymicrogyria involving the supratentorial brain, particularly the posterior temporal and frontal lobes and parietal lobes. There is a limited opercularization. The posterior bodies of the lateral ventricles are mildly prominent. Otherwise, the ventricular system is normal in size and configuration. The pons is low-normal in volume. There is no midline anomly. The cerebellar vernis is present. The craniocervical junction is normal. The flow voids of the major intracranial vascular structures are grossly normal. Myelination is developing appropriately.
IMPRESSION: Severe abormalities of migration.

MRI

Finally, here's Paisley's MRI. Now you can see her "smooth" and "cobblestone" brain.

Let's start this off.

While Paisley is taking a nap I should go ahead and start from the beginning with this new blog. I was nineteen years old, a few semesters into college, working two part-time jobs, and pretty much living with my high school sweetheart, Brandon. I was on birth control, but took antibiodics everyday to supress my bladder/kidney infections I've been prone to getting. I was going to school for art and just could not do anything in my watercolor class. I came home tired and slept all day and could barely go to school and work. I went to the doctor, got diagnosed with hypothyroidism, and got a medical leave from school on October 1st. Something just didn't seem right, so the next morning I took a pregnancy test because I hadn't had a period and sure enough, it was positive.

Fast forward after an ectopic pregnancy scare, and some bleeding spells after that, I was laying in high-risk OB Dr. Roussis's office listening to my baby's heartbeat on October 28th. Everything was going swimmingly and I didn't even have morning sickness (only got a stomach bug a FEW times), and I knew that I was having a baby girl from day one. Oh, and I did have that ultrasound just to prove to everyone else. I was in my highest 125-130 pound range when I got pregnant and I started gaining weight and a round belly too rapidly... I started leaking fluid one day around five months pregnant and went to the ER. They determined it wasn't amniotic fluid, or an infection of any sort, or anything besides water really. That's when I knew I was retaining too much fluids and getting too big. I was put on monitors every week and Paisley would fail her non-stress test everytime due to her all day hiccups so we got to see her pretty face via ultrasound a lot.

My blood pressure started skyrocketing the first week of May and after peeing in a jug for 24 hours and having major headaches, Dr. Periclis Roussis admitted me into the hospital May 9th to induce my labor. I weighed 185 pounds... Paisley was born the next afternoon, after a super easy labor and 4 weeks early. She was perfect, she breastfed just fine, and even got to go home with me a couple days later. She developed jaundice and got to tan in a suitcase at home for two days.

Paisley was never sick and never cried, but I did notice that she could not see. I think I knew it before I even left the hospital, but no one believed me. At her two month check up, they told me that it's still too early to tell if she can't see. At her four month check up, they told me that she was a preemie and would catch up, but I insisted on going to pediatric opthamologist, Dr. Allyson Schmitt. At six months, they were finally concerned with her developmental delay and sent us. Paisley's eyes were perfect, except she had cataracts on each eye, but too tiny to cause any trouble... But the doctor agreed that at six months, Paisley was not tracking objects or reacting to the lights and suggested to have an MRI, because it could be neurological.

On November 28th, Paisley had to be put to sleep to have an MRI done of her brain and orbitals. It took less than 24 hours to call us back and tell us that it was her brain. Her brain had not developed in the womb and it was pretty severe. We got in the see the neurologist, Dr. Karsten Gammeltoft soon after because Paisley started to have little seziures. Dr. Gammeltoft showed us her MRI on December 7th and said words like "polymicrogyria", "lissencephaly", and "cortical dysplasia". He told us the best way to describe her brain was a "migration disorder" and that 100% of her brain is malformed. She had an EEG that day and he didn't see anything that stood out, besides chaos in a chaotic brain.

After her first EEG, Paisley started having more noticable and more frequent "seizures" that look liked she was just flinching in clusters. I knew they were "infantile spasms", which he warned us could make her regress. I called and the doctor put her on Topimax sprinkles and scheduled a six hour EEG for December 27. But on Christmas Eve, Paisley started having these seizure clusters all day, and even waking up in the night with them. We made it until the EEG where they saw her seizure activity and called the doctor on call since Gammeltoft was out of town. Dr. Anna Kosentka diagnosed Paisley with infantile spasms, doubled her Topimax, and added Keppra to it. She talked to us briefly about a hormone injection therapy called ACTHar to stop the spasms...

Now here we are today, waiting to see the genetic doctor tomorrow morning, waiting to start her therapy tomorrow afternoon, and waiting for a call from Gammeltoft about her medicines not being effective enough and whether or not we're going to do the ACTHar. Too much waiting. Wish us luck tomorrow!