Home, Sweet Home....

Hannah working on a wind chime for Nana....

We are home from our VEEG stay at IU Hospital.  It was a new experience as this was the first, NON Children's Hospital we have ever stayed in.  Most of the staff were great.  I think they enjoyed having a kid to work with.  The biggest thing was that they didn't have a Child Life Department, which I knew ahead of time.  So we brought our own!!!!  We had every craft under the sun.  It was "THE ACTIVITY ROOM!!!"  We were able to keep her very busy.

Blitzen was quite the hit as well.  Everyone loved him.  The word spread quickly that he was "in the house!!!"  Employees and patients were coming to see him.  We made lots of friends this past week! Top kuddos go to our favorite nurse, Melissa.  She was our nurse the first day and set the bar very high!!! (she came to visit us the rest of the week even though she wasn't our assigned nurse).  She would do ANYTHING and EVERYTHING for Hannah....What a fantastic asset to Indiana University Hospital.  TOP NOTCH!!! 

Hannah is the bravest, best trooper I know.  She got four IV sticks (two didn't work) and didn't even flinch.  The nurses commented that she did better than most adults there.  Hannah didn't complain at all the entire week.  She even wore her BI PAP mask.  Most of you don't know how monumental this is.  She didn't used to wear this in front of anyone...not even her dad.  She was very self conscious of how she looked in it.  Hannah declared this week that she LIKES it!!!!  WOW.  When she is ready for bed, she now asks for it, I help her put it on, and she is "light out."  I am one very proud mama.

We had to wrap her head so her BI PAP wouldn't mess up the wires....

Hannah and our favorite nurse, Melissa

We got some really good information while spending the week there.  Most telling to me, Hannah's EEG pretty much looks the same on meds as it does offf of meds....  I think a change is definitely coming our way.  We did get to see Dr. Salanova while we were there, but she wanted to wait until she could see all the information and the report until she gives her recommendations.  We have a follow up appointment in March, but not until the 17th.  I am very anxious to see what we are going to do.  Hannah had only one small seizure while we were there.  She had tons of spikes and slowings of her waveform, which is seizure activity.  Dr. Salanova did not want to take her off her medications.  She wanted to see how she looks and functions on the current dose.  Apparently not too well.....

While we were there, I also got a call from genetics.  Hannah does not have Ring 20 Epilepsy Syndrome.  I really thought this was going to be her diagnosis.  Her 20th chromosome was normal, not showing any ring.  So, the search continues.....

Giving lots of lovins to Blitzen.  He loves laying with her on the bed...

Awwww.  gotta love it......

We always hang a sign on the door, so no one is surprised to see a dog in the room.  (especially unsuspecting staff in the middle of the night!!!)

Just Chillin......Life of a Working Dog!

New Neurologist...

Hannah and I embarked on a new adventure today....  We had our long awaited for appointment with a new neurologist (4 months to be exact).  I hadn't called her doctor her "new neuro" until today.  Wasn't sure.  I have been very unhappy with her neurologist in Cincinnati for.... ummm. probably 6 months now.

We went to Indianapolis, IN to University of Indiana Hospital, to see Dr. Salanova (she is also affiliated with Riley Children's Hospital).  In my mind, we were getting a second opinion.  I prayed all the way there.  Prayed for hope...  a new direction...  to get out of a rut....  fresh eyes on my girl....  We weren't in the office for 10 minutes and I knew, in my heart, this was her new neurologist. 

She took a detailed history (best she could, after all, Hannah 's history could take all day to go over!).  She listened.  She took diligent notes.  She looked at reports I brought with me and reports she already had in her file.  She heard my concerns and agreed changes need to be made.

She wants to admit Hannah to the Epilepsy Monitoring Unit...  I knew this was coming; though not excited to hear the words.  But understand why.  Dr. Salanova wants to see what Hannah's EEG tracing looks like before she gives her recommendations.  I shared my frustrations with our previous VEEG experiences.  How, when we get there, NOTHING happens....  She simply said...."It's okay.  It's okay if she doesn't have any break through seizures.  Yes, I would like to see them, but I need to see what her spikes and all her abnormal activity looks like.  I want to see if it comes from both sides of the brain, several parts of the brain, day or night, or both....  We can tell so much from the spikes her brain gives off......"  Of course, I am thining, WHY IS SHE THE FIRST DOCTOR WHO HAS SAID THIS?????  So...... no pressure.  We will start off keeping her on her meds.  She wants to see what she looks like with meds in her system.  (great concept, huh?)  If we don't get what we need, they will take her off meds.  She said she wanted to schedule her for three days, more if we need longer....

She thinks Rufinimide may be an option as one of the very few meds left to try (her eyes widened when she saw the list of meds she has been on).  She also thought she may be a great candidate for a VNS.  I told her how we were on that track for surgery when insurance got in the way and then the neuro put it on hold....  She said "don't worry, we will work it out with the insurance and get her the help she needs."  That compassion, those words brought tears to my eyes.



Ready for the kicker???  Dr. Salanova got her scheduled in the EMU for Monday!!!!   As in, this coming Monday!!!!  I couldn't believe it.  She wanted her admitted to the University Hospital instead of Riley because she said the wait is much shorter...  I'll say!!!!


So....  here we go again....  This time I have so much more hope in my heart.

a long shot.... but still hopeful....

So, a few months ago, I came across an epilepsy diagnosis that literally gave me goose bumps.  As I read through all the information I could find, I couldn't believe how much it sounded like Hannah.  I called Hannah's genetics doctor and he agreed that it was definitley worth testing.  drum roll please.......  R (20) Epilepsy Syndrome (or ring 20).....    There is a foundation set up to share awareness about this diagnosis...

http://www.ring20.org/r20syndrome/index.aspx

Ring chromosome 20 epilepsy syndrome, also known as r(20) syndrome, is a rare chromosomal anomaly resulting from a break on each arm of chromosome 20 resulting in ring formation. In r(20) syndrome, the breakpoint of most patients is in the p13q13.33 region of chromosome 20. This syndrome is characterized by medically intractable epilepsy, nocturnal subtle seizures, behavioral problems and mild mental impairment. Unlike other chromosomal aberrations, dysmorphism (major or minor congenital malformation) is rarely reported.


Epilepsy is a constant feature of this syndrome and in many cases is intractable and drug resistant. Seizures are often complex partial in type and reported as episodes of altered consciousness with staring, oral automatisms, unspecified automatic behavior, focal motor symptomsand/or head turning. Subtle nocturnal behavioral changes such as stretching, rubbing and turning have been observed which resemble normal arousal behavior. In addition, subtle nocturnal seizures (SNS) and subtle nocturnal frontal lobe seizures (SNFLS) are also reported Seizures are often difficult to control with antiepileptic medications.

Today was our genetics appointment.  I have been very reserved because I don't want to get my hopes up of after almost 10 years, to finally have an answer.  I went to the appointment loaded with my information all about it.  We work with a wonderful resident who was very attentive and felt like it was a very good thing to test for.

Diagnosis of ring chromosome 20 syndrome can be made by recognition of certain characteristic clinical features; however, definitive diagnosis requires chromosomal testing of the affected person's cells. This is most easily done by looking at the chromosome pattern (karyotype) in blood cells but any other tissue including skin could be examined. Since chromosomal analysis or karyotype testing is not a routine investigation when epilepsy first presents, the diagnosis of r(20) syndrome may be delayed or go unrecognized. In other words, some people with difficult to control epilepsy may have a ring chromosome 20 but be unaware of it. Almost all parents of individuals with r(20) syndrome have no evidence of r(20) syndrome in their own blood chromosome analysis. A few individuals, typically relatives of affected patients , have been found to have a ring chromosome 20 without any evidence of symptoms. Why these people are protected against development of epilepsy remains unknown. Neuroimaging studies and metabolic studies are unrevealing in this disorder

So, we have already done the chromosome array test.  It showed normal chromosomes.  But the following is what really caught my attention.....

Since chromosomal analysis or karyotype testing is not a routine investigation when epilepsy first presents, the diagnosis of r(20) syndrome may be delayed or go unrecognized.

Please note:
1) We have seen the ring 20 in as few as 5% of cells, and we recommend requesting a screen for chromosomal mosaicism.
2) Newer array technology will NOT detect the ring chromosome and we recommend standard metaphase chromosome analysis.
We ask that you please consider chromosomal analysis if you have a patient (age 0-17) with the following symptoms:
predominantly complex partial seizures


medically refractory epilepsy with no etiology identified


Lennox-Gastaut-like features with no etiology identified


frequent subtle nocturnal seizures (SNS) and/or subtle nocturnal frontal lobe seizures (SNFL)


EEG showing prolonged high voltage frontally dominant slowing intermixed with spikes or sharp waves


EEG showing overlapping features of continuous slow spike and wave discharges in sleep (CSWS) and electrical status epilepticus in sleep (ESES)


normal childhood development until onset of epilepsy


lack of dysmorphism or other congenital malformations


cognitive impairment/learning difficulties/mild retardation


WOW!!!  There is still hope.  This abnormal ring can be found in less than 5% of the cells.  So, after much discussion today, we did a skin biopsy on Hannah.  They said the skin cells would be the best modality to test.  Before the test, the attending came in.  He agreed to do the test but, started to poo poo it.  I think he wanted me to know it was really a long shot.  He said he thought it was less than 1% chance of showing this mosaic ring.  He said they very rarely test for mosaic chromosomes (exactly why R (20) in underdiagnosed!!)  Okay, so he deflated me, but I am still hopeful.  After all, Hannah has NEVER done anything by the book.

Hannah did FANTASTIC with the biopsy.  I could not have be more proud of her.  They put numbing cream on her arm, waited 20 minutes (thank God for the new DS game she got for her birthday), and then they retrieved a chunk of her skin.  She didn't even flinch!  (must have really been numb).  I think I flinched for her.....  She is so brave.

So, now we wait.....  2-3 weeks.  I am still hopeful.....