Tuesday, January 31, 2012


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.

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.

Friday, January 27, 2012

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.

Thursday, January 26, 2012

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.

Wednesday, January 18, 2012

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!!

Monday, January 16, 2012

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!

Saturday, January 14, 2012

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.

Saturday, January 7, 2012


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.

Tuesday, January 3, 2012

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.

Orbital contents are symmetrical and normal in appearance. There is no abnormal signal, mass effect, or enhancement.
IMPRESSION: No abnormality of the orbits

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.


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

Monday, January 2, 2012

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!