Nothing

...but a missing cyst and clandestine plans...

Missing Cysts

Last December, during a routine scan here at home, a cyst was seen in my sweet son's brain, attached to a tumor and snuggled against the brain stem.

In late December Steven started an oral prescription medication for hair loss.

In February the cyst and accompanying hiccups were noted by the brilliant doctors at the NIH. These doctors, who study VHL more intensely than anyone else, suggested immediate surgery. My sweet son, because he was in the middle of the last semester of college and didn't want to ruin his plans for an August start at law school, asked if the surgery to remove this tumor could wait until May.

After a long and convoluted conversation about symptoms, dangers, and outcomes, all agreed that Steven would wait until May, return to the NIH, have this nasty tumor removed, and start law school without any hiccups or VHL worries.

On the way home I began talking to my sweet son about the importance of keeping his local neurosurgeon advised of these plans. So Steven made an appointment with this Dr in mid-March, and I accompanied him.

Dr. V saw the cyst, commented on symptoms, and asked why the drs at the NIH would recommend surgery when the only symptom is hiccups. We explained what the good drs at the NIH told us. To the best of our muddled understanding, the drs at the NIH are finding that brain stem tumors almost always need to be removed, that beginning symptoms are a precursor to horrible side-effects of the tumor, and that they feel now that it's better to remove these tumors before the horrible side effects occur, as swallowing problems, numbness in limbs, and constant nausea don't always cease after surgery.

Dr. V listened intently, nodded his head a few times, and told Steven to re-scan in May and come back to see him.

Which bring us to the most recent scan of my sweet son's battled brain.

The cyst has all but disappeared.

No miracles, folks, as a miracle would mean that the cyst had completely disappeared. A miracle to us would be a brain free of disease or a gene that corrected itself. A miracle would be a drug that prevented further surgeries.

This is just a cyst that has followed a path not seen in VHL and diminished to a size that is barely visible.

After looking at the recent scans, that were sent overnight to the NIH, a resident dr working in neurosurgery at the NIH phoned my sweet son. This dr mentioned that the difference in the cyst doesn't appear to simply be a different cut of the MRI machine. This dr asked Steven if he has had radiation to that tumor, in an attempt to explain this finding. Steven, of course, replied "no", but he did mention this medication for hair loss that he's been taking since late December. The resident told my sweet son that his scans would be reviewed the next day by the lead drs in VHL studies at the NIH. The next day, in a flurry of missed calls and email correspondences, Steven was told that VHL brain cysts don't simply disappear or diminish significantly in size. He was also told that these drs won't answer any questions about what could make this cyst diminish so brilliantly until his next appointment in August, because cysts attached to tumors in the brain of a VHL patient simply don't diminish significantly. These doctors also deferred to Dr. V in regards to surgery plans. Dr. V, of course, doesn't see surgery as an option now. He would prefer to watch this tumor closely and be informed of the next MRI from the NIH. This MRI will happen in August.

August is also when my sweet son starts law school.

My son, to say the least, is frustrated. He's frustrated because his plans for this summer, including a meaningful internship that he had to pass up and exciting travels that couldn't happen, were cancelled, based on a brain surgery that was all but written in the books. He's abundantly frustrated that even the most brilliant drs in this field don't have answers for him. He is most frustrated that he's now expected to start law school with what we consider a very unstable tumor.

And we, by association, are frustrated.

Clandestine Plans

I teased a bit back in late December, amid the tears and disbelief that accompany a bad scan, that this prescribed medication that my sweet son was taking to treat hair loss might be the answer to prayers for thousands of VHL patients.

I was simply teasing.

After seeing the latest scan, however, I began thinking about the timeline of the changes in the cyst and the medication, the fact that this medication inhibits the formation of certain male hormones, the common but unproven belief that VHL tumors respond negatively to hormones, and the response from the NIH doctors that VHL brain tumor related cysts don't simply go away on their own.

And I brilliantly decided that the decrease size in the brain stem cyst was directly correlated to the taking of this medication.

And I suggested to my sweet son that we now work on proving causation between the medication and the cyst in the little lab that we like to call "the upper left shelf of the corner kitchen cabinet".

I hope this is the miracle pill.

Preliminary Report

It looks as if
my sweet son
will not be

running with the bulls
this summer.

Yearly MRI

Steven had his brain MRI and follow-up visit with Dr. V. last Tuesday. At his preference, I sat in the waiting room.

Dr. V. reported that the tumors in Steven's brain are stable, with some slight growth in a few tumors in the cerebellum.

I peeked at the MRI disc after we returned home.

I see a much dreaded cyst attached to the brainstem tumor. This is a new, and bad, development.

He's headed back to NIH in early February. We'll know more then.

In Summary

It has been brought to my attention, through a phone call from my sweet mother and an email from my equally sweet sister, that I have failed to give the official, Dr. V approved, December MRI results!

In summary,

(This has to be simply a summary since I sat in the waiting room this visit)

one tumor in the cerebellum and the nasty brain stem tumor

(and I don't know all of the minute details,)

show minimal growth over the past year.

(and I'm having a very hard time with this new stage)

The tumor in the cerebellum has plenty of room to grow

(of letting go)

before it causes problems that would require surgery.

(because my simple addled brain)

The brain stem tumor, while continuing it's lackadaisical pace of growth,

(truly believes that if I have all of the information)

is closing in on the magic size that will cause blockage of the fourth ventricle

(I can somehow gain control of this horrible disease)

and will require surgery in a year or two...or maybe three.

(and heal my sweet son.)

Superhero

Sweetly handsome college kid by day...

disease bearing tumor fighter by night.

Actually this sweetly handsome college kid fights disease during the day too...all day long, every day. He spent the better part of four hours in the MRI tube this morning, checking the many tumors in his brain the the few in his spine. My guess is that all tumors are stable, judging by the lack of new symptoms, but we'll wait until next Tuesday for the final word from the good Dr. V.

Research and Results

The official report pretty much reiterates the "mom report". Steven shows slight growth in the hemangioblastoma that resides in the medulla area of the brain stem. Because of the benign nature of the tumor and the persistent nature of the disease, that tumor will be left alone until it forms a cyst or grows to the point of blocking CNS fluid.

That is medical-talk for "we had the best time today in exam room B." We were able to catch up with the amazing Dr. Liu, meet Dr. V's new fellow, and let a resident or two in on our secret of successful living with VHl. And I believe that Dr V even popped into the room for a moment or two...If we'd thought of bringing chips and salsa, we could have had a party in there!

I was trying very hard not to count tumors this time...but it seems that Steven now has 6 confirmed hemangioblastomas in his brain and three in the spine. Again, it's very hard to predict which hemangioblastomas will cause troubles and which will simply co-exist with Steven for a very long time.

My "mom prognosis" is that two of these tumors will definitely cause problems in the next few years...not that I'm an expert or anything in the field of "curing Steven."

That said, it's been a long and tiring two days!

Today started with a friendly donation of blood at St. Joseph's Hospital, the purpose being VHL research done through the NDRI and supported by the VHLFA. While I'm not well versed in the specifics of the study, I do know that one of the purposes of this study is to look for a correlation between the specific genotypes and the resulting phenotype. The study is hoping to be able to associate the specific gene mutation (there are many, many, many variations of the genetic mutation on the short arm of the third chromosome that results in the VHL disease) with the type of tumors that a person develops in their lifetime.

We need the answers that studies like this provide. I am tormented, at various times in the course of my days, as to why my son has a large number of VHL related tumors in his brain and spine at a fairly young age, yet other VHL patients age well into their middle years with only one or two hemangioblastomas. And I need to understand why Steven has such wonderful retinas when other teens with VHL are losing their sight. And I wonder, seriously wonder, if he will also face a young diagnosis of renal cell carcinoma or grow old with only a few spots on his kidneys. By simply donating blood, and a little paper work, we are hoping that answers will be found.

Without a doubt, we are also very passionate about supporting medical research to help these VHL warriors with effective medications, better screenings, and less invasive surgery techniques. Without a doubt, we will do our part to support the search for a cure.

Without a doubt.

Please excuse my blatant enthusiasm for medical research. While I don't tend toward the dramatic, I have to admit, in all honesty, that my sweet boy would have had tragic results in the summer of '07 if it weren't for the medical knowledge recently gained through research. My strong desire to support this worthy cause rests always on that thought. Without a doubt, the gains made in genetic testing, imaging techniques and quality of surgery saved Steven's life.

It has been a very long and tiring two days. The new imagining center definitely adds a time glitch to the process, and the wait for the wonderful Dr V is always predictably long. Throw in an extra stop for a new research project, and, oh my, the past two days have been long! Long and tiring days, however, are tempered by good results. Stable is a blessing. Stable give us time to support the research that will save our sweet boy!

MRIs

I sneaked a quick view of the MRI pictures this evening. I think there is only slight growth...

no cysts

no enlarged ventricles

and no need for immediate brain surgery

But also

no absence of disease

and no miracles.

However tonight I also looked at a series of scans that we've never seen before, a different view, a different technique, a very unusual scan series for Steven. And in this new series of scans, I found something very odd in my son's brain....

Daisy!

While the Virgin Mary might do better on eBay, I think Steven was pretty thrilled to find that his very loved dog has taken up residence in his head!


It's been a long day. Tomorrow we see Dr. V for the official declaration of stable.

Miracles

Monday is Steven's yearly MRI series here in Tampa. The thunderous machine will be taking many, many pictures of his brain and spine. On Tuesday we'll meet with Dr. V and discuss any new developments in the hemangioblastomas of Steven's cerebellum, brain stem, and spinal cord.

In the mean time, I'm really hoping for a miracle.

This disease can eat away at your reserves, and Steven has expressed worries several times during the past several months concerning this disease and some intense headaches that he was experiencing. I think it would do our family good to be free of

hemangioblastomas

renal cell carinomas*

pheochromocytomas*

pancreatic neuroendocrine cancer*

endolymphatic sac tumors*

various and sundry cysts of the abdominal organs

and one really nasty and insiduous gene that makes the future uncertain.

(...in no particular order...)

I'll be taking a sneak peak of the scans tomorrow when we get home, just so I can ask the right questions on Tuesday. And while I'm counting tumors and looking for cysts, if I happen to see anything resembling this,

I'll consider the miracle granted!

*Disease of VHL that does not yet show on Steven's scans.

Back to the Land of Stable

Our new normal.

Steven had an MRI and neurosurgical appointment here in Tampa today, just the yearly scan and clinic visit. Given his absolute lack of symptoms and the slow progression of these tumors, I really was expecting only good news today. But I was also prepared for surprises.

Our new normal.

Dr. L, the amazingly brilliant neurosurgeon who first befriended my sweet son two years ago, graced us with her presence today. She followed a quick neuro-exam with a lengthy discussion of the various organs affected by the disease and the genetics behind the growth of tumors.

And we pretty much understood all of the nitty gritty details.

Our new normal.

The scans, predictably stable, were explained in detail.

And Dr. L shared the actual pictures with us today, which we all know is so important to maintaining my mental health.

Our new normal.

The hole in the back of Steven's brain is the same size that it was in August. It hasn't diminished, and we're told that it probably wont get any smaller.

This is normal.

Our new normal.

Dr. V really offered little new information. He reminded Steven that the remaining seven tumors will take a path of their own, as we all understand. No one can predict if they will remain very slow growing, almost to the point of being dormant, or take the bolder, more active stance of creating edema and resulting cysts.

And he reiterated that the hole in the back of my sweet boy's brain will not diminish.

Ever.

That sort of news, showing the enormity of what this disease can do, breaks my heart and scares my soul a little bit, even in the face of stable scans.

Our new normal.

And in a bit of non-VHL but very important news, my bold and feisty little girl had a field trip today to a place called "BizTown." I don't know the exact details of the workings of BizTown, but I do know that it is a local facility that offers real-life work experiences in a variety of settings for children.

My daughter was the boss.

Imagine that.

Our old normal.

Steven's Brain

Somethings missing





Steven's brain, August 2007, still showing the wrath of the disease two months post-op.

up there.

The Big Picture

Steven' Brain.

December 2006

February 2007

May 2007

All the same view. All the same tumor and associated cyst. Six months time.

I'm not sure what the appointment tomorrow will bring. I've been fooled the past two times, so I'm hesitant to even try and guess. But, if I'm forced to make a prediction, I would guess that Steven will be going to FSU in the fall, and the pesky tumor won't.

While I can now see what is growing in Steven's cerebellum and causing the episodes of extreme dizziness, I can only guess at what grows in his heart.

I do know that whatever is brewing around in there is tough, very tough. I can't believe that the complaints of dizziness have been as infrequent as they have, given the rapid growth of the cyst.

I do know that whatever is stewing around in Steven's heart is determined,very determined. In the midst of all of this "yuck", Steven has not missed one day of school nor one senior activity. There have been several days when I've seen him hold his head in an attempt to steady the room, only to press on and walk out the door to school.

I know that what ever is growing in his brain doesn't stand a fighting chance against the things that grow in his heart.