Tuesday, September 30, 2008
We have received the official reports from our last round of testing. Here are some bits and pieces...
The PET scan showed a mild hypometabolism of the left parietal, temporal and occipital cortex. The right hemisphere appears normal. The basal ganglia thalamus, brainstem and cerebellum showed a normal distribution of glucose metabolism. The gyri in the left posterior cortex are not very well defined compared to those on the right side. The architecture suggest cortical dysplasia. The right hemisphere abnormality is no longer present (very, very good news).**
The background activity during the awake state consisted of posterior dominant alpha rhythm at 8 Hz, which was bilaterally symmetrical and reactive to eye opening and eye closure (meaning the background rhythm is normal for age). During sleep, sleep spindles were seen bilaterally (don't know what this means). Hysparrhythmia was also seen during the sleep segment (that is bad...very bad). There were frequent right spike and wave activity along with independent left parietal-central-temporal spike and wave activity. Besides the right and left parietal-central-temporal activity there was also diffuse spike and wave activity. Besides these there was also temporal intermittent rhythmic theta wave activity seen in right and left side independently. Two types of spasms were captured. One was atonic spasms characterized by head nodding and the second was tonic seizures.
That about sums it up.
**Initial PET scan at 11 months of age stated the following...PET scan showed a large area of decreased glucose metabolism in the left hemisphere involving portions of the parietal, occipital and possibly frontal cortex. There is also a suggestion of a right parietal abnormality.
Thursday, September 25, 2008
I want to start off by saying Elsa is absolutely fine.
It all started a few weeks ago. Elsa doing some suspicious things. Like when she would reach out her left arm and she would press the side of her head against her shoulder. She didn't always do this when she reached out but sometimes. Or when she was playing with a toy and she would drop her chin down to her chest in a suspicious kind of way. It just kept building.
Then something happened Tuesday night that broke my heart. My mother-in-law was over because Brandon was out of town. We were all sitting on the bed...Sophie, Elsa, Debbie and I. The girls just got out of the bath and were playing around. Then Elsa's head dropped suspiciously. I asked Debbie "did you see that?". All the while expecting her to answer "see what?". To not understand what I was talking about or referring to. But she answered "yes". We both knew. We did not have to say what "that" was. So my heart started pounding a little harder. The tightness in my chest got a little tighter. But I tried to keep my emotions in check. So we got the girls dressed and went to play in their playroom. No sooner than the words "I'm starting to freak out" came out of my mouth, Elsa's head dropped in the middle of her sitting on the floor doing absolutely nothing. Not reaching for any toys. Not playing with any toys. She was just sitting there. My heart sank. I dropped to the ground and started sobbing. I got myself together and called Sophie's neurologist. He said that if I took her to the ER that they would not be able to do an EEG until the morning. So I had to wait. I had to compose myself.
I called his office in the morning and had an EEG scheduled for 2:45pm that day. I held her in my arms, fighting back the tears, as Georgia (I'm on first name basis with the EEG technician) put the leads on Elsa's head. I held her in my arms as she innocently slept while her brain wave activity was being recorded on a monitor a few feet away. The minutes ticked by as I held her wondering what those lines were doing on the monitor. The monitor wasn't facing us so I couldn't actually see what was going on. Not that I would have wanted to anyway. Then it was over. She cleaned Elsa's head off and then stuck her head out that door and waved Dr. Callahan in. He walked over to the monitor and started reviewing the EEG. My heart pounded and my mind raced. I didn't think he was going to immediately come in and review the EEG. I thought I was going to have to wait in the waiting room where I was going to call Brandon to come over from work (he is only 15 minutes away). Then he popped his head around and before the words "wait until I call my husband" could come out of my mouth, he said everything looked great. The background rhythm was normal and no epileptic activity was noted. I should have known. Georgia has been doing this for at least 25 years. She knew. I could breathe again. Elsa was going to be okay.
I know this doesn't mean we are completely out of the woods. Elsa could be having benign myoclonic seizures. But I can deal with that. Just not infantile spasms. It is crazy to think that. So I will keep a close eye on her and note any additional odd movements. If I see any then we will schedule her for a longer video EEG to be able to catch these movements and analyze them. But I haven't seen any today. She is not even doing that weird head to the shoulder thing anymore.
Elsa has had 2 EEGs in the first 8 months of her life for absolutely no reason except to put my mind at ease. Sigh.
Monday, September 22, 2008
Sunday, September 21, 2008
Thursday, September 18, 2008
I did receive your recent email with the offer to speak about our journey since Trevor's diagnosis. I chose to take some time to think it over & to seek counsel from trusted friends. The feedback was mixed...as were my emotions. And in the end I never arrived at a peace point in my core. I did not mean to leave my answer hanging. I just wasn't ready to move forward one way or the other.
But during these ensuing weeks a conclusion has been drawn for me.
We had been seeing some questionable movements from Trevor. So mild even the doctors were not convinced. But I have learned to trust my instinct...and pushed for testing.
I spent every moment of this past week hoping with each beat of my heart that this time my instinct was wrong. That Trevor's Spasms had not returned. But...as I know you are already aware...a VEEG confirmed our worst nightmare. For the second time in his 17 months of life we are holding our broken baby boy. With shattered hearts. And unrestrained tears.
During the conference call with investors the evening of the JEC hearing you publicly shared that my testimony profoundly moved you. I have heard that you even played-back my testimony for your employees. Changes were promised. Changes that would help parents navigate through the pain of IS & gain access to your medication quickly. You celebrated Trevor's quick response as a success for your company.
But while you were busy proclaiming success we could not assume the same care-free feeling. We have lived each day since Trevor's diagnosis with the breath of the IS beast on our backs...just like every other family affected by this disease. Knowing that at any moment our son could fall prey to this devastating disorder again. The odds of 20-25% relapse mean very little to a parent whose child has already suffered a rare disease. And this week proved exactly why.
Allow me to share my second experience with your company...
September 8, 2008 - I received a phone call from a young man representing Questcor's Acthar Support & Assistance Program. The very first question (and frankly...only) was regarding gathering insurance information. There was no empathy. Not even a scripted "I'm sorry your family is going through this". It was all business. And that business was making sure our insurance (which is State Medicaid btw) would be footing the bill for Trevor's treatment. In fact, I received multiple phone calls making sure the correct ID numbers were given.
Late that afternoon he called to inform me that the case was still in the works.
And as of 3pm today September 9, 2008...we are yet in a holding pattern. I have not received any phone calls from Acthar yet today. Although our nurse called afraid that perhaps she had done something wrong to delay the process. I assured her that the process should not be so complicated that she would even have to entertain that thought! At this point I doubt we will receive Trevor's treatment by tomorrow? And even should it arrive tomorrow everything will still be delayed until Thursday because we need to make arraignments for a home nurse to be present. That will make it at least four days & 160 seizures from submission to injection.
Which leaves me with a very sour taste in my mouth. Similar to the taste I experienced about 8 months ago.
I am convinced we will never agree on the price point of ACTH. I readily admit my bias on the matter. And acknowledge that your experience on this issue undoubtedly exceeds mine. In fact, I can sooner converse in Swahili than understand the many complicated layers of this issue. And yet Providence has directed that we each have our horses in this race. Mine just happens to be a beautiful baby boy.
But there are certainly some areas outside of pricing with which I take issue...
I recently read a statement made by you stating that insurance denial is rare & that NORD is picking up the tab for the families who either do not have insurance or are denied coverage. Of course, again my objectivity is skewed by our personal battle with our insurance company during Trevor's initial diagnosis.
But if it is true...and if you are indeed committed to making sure that every child in need of ACTH will get it...than I am having trouble understanding why the first priority is ensuring that insurance will be covering the bill? I cannot wrap my mind around why...in a situation as dramatically tragic as IS...your company cannot find a way to ship the drug & work out the payment arrangements later? I have been told that other drug companies have done this. With drugs less vital than ACTH. And you have emphatically stated that insurance denial is rare & that no child will go without this drug due to Questcor's "generosity".
And so it seems to me the attitude at Questcor is: Payment arrangements first - vital drug to desperate child after.
Again...I'm feeling the need to wash the sour from my mouth.
You argue that if the drug were not priced where it is today the company would go under...and ACTH would no longer be an option. This of course is not my intent. My issue has never been with the drug...but rather with the pricing & accessibility. I know first-hand that ACTH can provide a miracle.
And Questcor investors were quick to point out - $25,000 to cure her kid & she's complaining!
Correction...that would be $25,000 PER vial & as I testified Trevor's course required 5. So in actuality the bill tallied to over $125,000 for the 8 months of seizure freedom Trevor was given. But he was not cured. And yes I am complaining. Or rather...advocating.
I am advocating on behalf of the IS community as a whole. I am advocating for all the beautiful baby boys & girls afflicted with this disease. And those yet to be diagnosed.
They deserve access to this medication. Immediate...affordable... access. A little over "two day" turn around for your company is too long for a family holding a seizure ridden baby.
I am imploring you...look into the eyes of my son.
His beautiful eyes. Eyes that represent every baby living with Infantile Spasms.
Look into Trevor's eyes & prove that you care. About him...more than the bottom line.
Prove it by making the turn-around time less than 24 hours from submission of paperwork to receipt of the medication. Every time. Prove it by spending more than 13% of your company's profits to fund Research & Development. Invest more on finding a cure for Infantile Spasms than you do on employee wages. Prove it by under-writing projects like the Epilepsy Phenome-Genome Project which is in progress right now.
I have been told that you are a generous...kind-hearted...caring man.
Now I'm asking you to prove it.
From the heart of a mother...
Wednesday, September 17, 2008
Sophie had about 65 seizures that we noted on the sheet of paper we filled out while we intensely watched her from 12:30pm on Sunday to 8:30am on Monday (about 20 hours). I am not sure if she usually has this many seizures...it seemed a little high. I have not watched her that intensely for quite a while. After counting for so long...you just don't do it anymore. It takes a lot of energy. Especially when she has seizures all day long. To either mentally note the seizures to write down later or to constantly get up and find that notebook to write them down. I hate doing it. One day, I just decided not to do it anymore. Every once in awhile, usually with a medication change, I will take note.
So, between the EEG and PET scan, they had a lot to review. The conclusion...more testing needs to be done. An MRI and a different type of PET scan (AMT PET scan). To summarize what we discussed with Dr. Chugani...
There are no medications that he suggests at this time. We have tried everything that could quite possible work. He said we could try to wean the Clobazam . We haven't yet and if we do then Sophie would be completely medication free. She has been on one (if not several at the same time) drug or the other since she was 7 months old.
He believes that Sophie has a focal point and will most likely be a surgical candidate. Sophie is just not allowing us to see it at this time. We need to be aggressive now and try to find it. We will start with the MRI and AMT PET scan. Then, if need be, we will do a FMZ PET scan. Sophie continues to develop in spite of the seizures and that tells him that there is a focus. She would not continue to develop as much as she has if the seizures were coming from both sides of the brain. The preliminary results of the FDG PET scan (the one that Sophie had done last week) showed a small abnormality in the left parietal lobe. He noticed nothing on the right hemisphere of the brain. But the EEG is chaotic on both sides of the brain. He does not have enough evidence at this time to present the case in front of the surgical committee but he believes with the additional testing we will get there.
So we will do the additional testing. We will hope and pray that Sophie will be a surgical candidate. But all the while hoping and praying for nothing short of a miracle.
Thursday, September 11, 2008
We were then discharged from the hospital at around 8:30am and headed down for the PET scan and to once again be taped* down to the table for the EEG. They only had to add an additional 4 electrodes to her head for the PET scan EEG but she had to stay taped down until the recording was over. Though she seemed more traumatized with these 4 than the original 28 they put on her the day before. She was then injected with radioactive tracer isotope and then recorded for 30 minutes on the EEG. All the electrodes were removed and she was then sedated for the PET scan. She did absolutely wonderful with the sedation. She was groggy when we left the hospital and we carried her back to our housing where she took about a two hour nap. She woke up happy as can be.
We then decided to drive over to Windsor, Canada for a late lunch...it is only a few miles away from where we were at. No problems getting into Canada but coming back into the USA was another thing. To make a long story short...the Department of Homeland Security picked up the radioactive isotopes in Sophie's body and after about 30 minutes we were given clearance to leave.
We then met with Dr. Chugani the following day.
Tuesday, September 09, 2008
Sunday, September 07, 2008
After we settled into our room, we took Sophie outside to play. There was a daycare center next door in which we could play on all their outdoor equipment. Then we walked over to dinner at the hospital cafeteria. We really didn't feel like getting back in the car and it was a gorgeous day outside.
This morning, we had breakfast at the hospital cafeteria and arrived at registration at 9:30am. We then headed up to the EEG department to get all set up and had to wait for almost an hour since there was some kind of emergency. Finally, by 12:30pm, Sophie was all hooked up and we were settled into her room. Then we tried to order her some lunch but couldn't because she was put into the system to only have an infant diet. Once we got all that cleared up, she finally ate lunch at around 1:45pm. Which isn't all that bad with the time change (we are one hour ahead of our normal time zone). Then Sophie proceeded to pull her mummy head wrap off twice. After the second time, the nurse told me she did not know if the EEG tech would come back up to fix it. Oh really...should I just disconnect her from the machine now or wait until she pulls all the leads off her head?!?! Some people are just so incredibly...rude (for a lack of better words). Anyway, the EEG tech came back and rewrapped her head. This time he did an incredible job and he didn't seem to mind coming back up at all. His wife is due with their first daughter in a month and he is even thinking about naming her Sophie. Sophie has that effect on people ;)