Thursday, January 9, 2014

Four score and two lifetimes ago.

Seriously.  It has been lifetimes, two or maybe more, since I last posted. I don't know whether to apologize or say you're welcome, but for those of you still interested in my babble here are my latest ramblings.

The children have grown, as all children do. Ainsley is taller and lanky (a trait not inherited from my side of the family I can assure you), and now in the 6th grade(!).  She has become quite a talented soccer player and travels often for the love of her sport. Jack is also taller now, not quite as lanky as his sister, and is plodding through 2nd grade like a trooper. 

Their father and I divorced. The children and I moved back to my hometown three years ago, and it seems everyone has adjusted quite nicely.  I happily remarried a few months ago. Jeff, a man I adore and have known for years, is wonderful to us and for us.  We live not too far from my parents, which has been of particular good fortune since my Mother's health has taken a dramatic turn, the outcome of which remains to be seen. I am happy to be close and offer our support when needed.

Jack's over all health has had no remarkable changes.  He is now on medication for ADHD, wears glasses (very hipster!) and participates in the special education program through his school.  

To this point, this update has been a mediocre rambling, like something you expect to receive in the yearly Christmas card from a relative you never see or speak to. And if that's all you were looking for in this update, you can stop reading now.  The rest is just my own thoughts about all things Jack.

There is far more information regarding neuronal migration disorders available now than there was just a mere 5 years ago.  And while that is astounding, there is still very little known about the long term prognosis, and even less known about male children who have multiple neuronal migration disorders with no Filamin A mutation.  We basically don't know any more about how it is going to affect Jack's quality of life then we knew back then.  It is nearly impossible to comprehend the vast dissimilarity of how swiftly information surfaces versus how slowly research actually progresses. The basic facts remain the same: diminished IQ with significantly delayed learning, motor planning difficulties, high risk of developing seizures during the second decade of life.....etc., etc., etc. 

So I have to ask myself, if the facts haven't changed, why do I find myself struggling with his diagnosis NOW?

When he was first diagnosed with his "disease", for lack of a better term, I didn't know how to react.  Was I to be relieved that we finally had a name and a very vague sketch of things to come? Was I to be intimidated by the massive names (periventricular nodular heterotopia and cerebellar hypoplasia) and the minuteness of the information available about them? Was I to be indifferent, knowing that there is a stark contrast between a diagnosis and a cure?  Looking back now, it seems I chose door #3, shaken not stirred, with a splash of denial.

I understood the diagnosis, as well as a non-medical professional could, but not the implications that went along with it. Now, as we navigate the realm of special education, attempt to plan Jack's school career, and watch his social struggles emerge, it is painfully more real to me.  He is not normal.  He is wired very differently than the average person.  He will never live independently, likely never drive a car, and never be capable of managing his own finances.  (Hmmm.  Come to think of it, neither does a significant portion of the "adult" population of this country.....) I have said all of these things a thousand times, but saying it and accepting it are not the same.  Over the past few weeks, I've struggled with that acceptance and it's very likely that I will struggle with it for years to come. And that's ok. I am amazingly fortunate to have something, and someone to struggle for.

Be well. Be kind.  Be love.

Saturday, January 9, 2010

The Verdict Is In...well not really.

Quite sometime ago, we sent an entire package of information to a renowned doctor in Chicago for his "take", aka professional opinion, regarding Jackson's brain scans. This particular doctor comes (obviously) very highly recommended and, if no "donation" is made to his research laboratory, can take 6-9 months to review a child's file. (In our case it took nearly that long anyway, regardless of the donation.) So when the email arrived in our in box we were anxious to see what the good doctor had to say. This is the email he sent:


Re: Jackson Bender
DB#: LR09-329
DOB: 9/19/2005

Jason and Lauren --

I reviewed notes and brain scans on your son Jackson recently. His history is most notable for language delay, aspiration and later GE reflux. He has had some developmental catch-up, but remains behind. I presume that this includes continued language delay. His brain scan shows a single nodule of nerve cells next to his left lateral ventricle. These are known as a “periventricular nodular heterotopia” (PNH) and may occur as single nodules usually with no other anomalies, or in groups of nodules when they may be a marker of a developmental syndrome. His scan also shows marked underdevelopment of his cerebellum, affecting the midline cerebellar vermis more than the R and L sides or hemispheres, and the R hemisphere more severely than the L hemispere. I will designate this cerebellar vermis hypoplasia (CBVH). Neither of his two scans allow a good look at his temporal lobes – particularly the hippocampus.

He could have a syndrome consisting of CBVH, PNH and underdevelopment of the hippocampus first reported a few years ago (Parrini et al 2006 in BRAIN). But this condition is usually associated with several PNH as well as a malformed hippocampus. I can’t see his hippocampus – no good images in this area. So this is a possible diagnosis, but I’m not certain about it. The senior author of that paper (Guerrini) has a trainee reviewing a larger series of patients, but I don’t have the data from this yet. No recurrence has been seen in families, but the number of individuals with this condition is still small.

As an alternative, both single or a few PNH and small cerebellum – especially when asymmetric – have been associated with prenatal ischemia (lack of oxygen or blood supply to the fetus, ie a placental problem) per a few references (Battaglia et al 2009 in Epilepsia for PNH; Boltshauser et al 1996 in Neuropediatrics for cerebellar hypoplasia). So this is possible, even with a normal pregnancy history. If this is the cause, it would of course be NOT genetic.

I don’t have enough information to say much about outcome. He is at some increased risk for seizures because of the PNH, and for a range of developmental problems with coordination and behevior due to the cerebellar problem. Neither of the possible diagnosis I’ve listed above by itself tells me what his ultimate developmental outcome will be.

The only new test that I would order is a new chromosome microarray. He had one done in early 2007, but this used technology now several generations out-of-date. If you are interested in research, I would need blood samples from Jackson and you two as I expect we will eventually find some further PNH genes. Please email my coordinator, Mary King about this.

REVIEW. MRI x2 at 7mo and 2y11mo (4/27/2006, 8/14/2008) on CD show normal head contour, extra-axial spaces, gyral pattern and cortex, single periventricular nodular heterotopion (PNH) adjacent to lateral border of the L trigone (watershed area), normal hippocampus, basal ganglia and thalamus, mildly reduced volume white matter, posteriorly, normal 3rd and mildly enlarged and dysplastic lateral ventricles, normal corpus callosum, brainstem, mildly enlarged 4th ventricle, mild cerebellar vermis hypoplasia involving inferior-posterior vermis (uvula and pyramis lobules), L>R cerebellar hemisphere hypoplasia, and normal to small posterior fossa size. wbd

WBD



Now that clears it all up, doesn't it? ARGGGGH.

Friday, August 28, 2009

Mother said there'd be days like this...

It seems like we've gone for quite some time without major issues. So I suppose it is appropriate that we're thrown suddenly back into the thick of things.

Today, we visited the world renowned Developmental Pediatrician at the Kennedy Krieger Institute. While he was pleased with Jack's progress, he had some not-so-pleasant things to say. We need a Behaviorist consult. Jack is apparently "emerging ADHD". Our goal for him should be to attend "normal" Kindergarten with supportive services. His muscle tone will likely never improve which means he will always have major issues with handwriting and other fine motor activities. He has severe speech apraxia. He has significant learning disabilities. So much for "growing out of it". This same doctor also advised against putting Jack into an "inclusion classroom" with typically developing peers. His fear is that this will exacerbate Jack's speech difficulties and behavioral issues. Add to that visit, significant insurance complications and it made for a rather rough morning.

Jack as been suffering from recurring nosebleeds for the past week or two. Often having multiple "significant" bleeds, lasting longer than 15 minutes. It has been so bad that his nose is raw from all the tissues, washcloths, and whatever else has been handy to catch the blood. This morning, after a really rough night, I finally gave in and called the pediatrician for advice. Call the ENT I was told, which is exactly what I expected, he needs to have the vessels in his nose cauterized. Great.

During the course of my conversation with the pediatrician, I also asked her about Ainsley's recent tendencies to pull her eyelashes out. She started this sometime mid school year and managed to stop for a bit. She has however resumed and has moved on to her eyebrows as well. Her eyes are completely void of any lashes and half of her left eyebrow is missing. I am beside myself, having asked her repeatedly if there was something bothering her, if she was anxious or upset about anything. Coaxing from her a response of a standard "no". So now that the behavior has resumed our Pediatrician has recommended that we take her to therapist. Really. Take our seven year old daughter to see a therapist.

I'm still thankful for Jack's overall health and cognitive abilities and for Ainsley's brilliance and beauty. I recognize that these small details, which when compiled make for a rather ugly day, are very small in the grand scheme of things. But every once in a while I just have to vent. And this is one of those days.

Tuesday, July 21, 2009

Thank You Mr. Mraz

I recently posted this on Facebook and felt I should post it here as well. For those of you who have read this previously, my apologies.


For those of you who I've not had the pleasure of keeping up with over the years, let me bring you up to date with the very abridged version of my life. I am married with two beautiful children living in a suburb of Baltimore. Our youngest child Jack has two congenital brain defects which affect his gross motor, fine motor, and speech significantly. The degree to which his difficulties will affect his future endeavors remains to be seen, but he is a beautiful, happy boy who literally brightens every day of my life.

Over the last year or so I have discovered that a lot of things about my life have changed. These changes not actually occurring over the last year, but slowly recognized during that time. Namely and most importantly my priorities and philosophies. Don't get me wrong. Since their births, my children have always been my top priority. But through friends, family, and people I've never met, I have woken up to realize that LIFE IS TOO SHORT. Period.

My very favorite musical artist is Jason Mraz. I was simply captivated the first time I heard "I'm Yours", and have since discovered his entire catalog is filled with wee bits of wisdom and insights. His philosophies on living and loving are just what the doctor ordered, so I imbibe regularly, contentedly drinking in his music. Just ask the people who spend any amount of time with me. They're sick to death of hearing his music. I've seen him in concert once already, and have tickets to see him two more times this summer. Trust me when I say, I'm not an obsessed fan, i just get it and thoroughly enjoy listening to it. (After all, I was nearly a music major in college...)

By now, you may be wondering how this all ties together....well let me connect the dots for you. Jack and I were outside today playing cars on the patio table, listening to none other than Mr. Mraz (his new EP "Yours Truly..." which I love) when I noticed that Jack was singing along. Seriously. The boy who has four sessions of speech therapy, three sessions of OT and two sessions of PT each week was singing along to "I'm Yours" (the live from Japan version)! It was truly one of the sweetest and most rewarding moments I have ever experienced. And for that I am grateful. Thank you Mr. Mraz.

video

Wednesday, March 25, 2009

Round 2....

Round 2 of the IEP battle clearly goes to us. The OT and PT both conceded rather quickly that he does indeed need services through the summer. We were successful enough to get 2 sessions of OT per week and 2 sessions of PT per month. For those of you unfamiliar with the IEP process, this is a big victory, even if it wasn't the struggle we thought it would be.

We are elated, needless to say. We've spent much time worrying over the eventual outcome of this particular IEP. It is now something I can officially cross of my list, at least for now.

Additionally the pulmonary appointment also went really well. We are going to attempt to take Jack off his inhaled steroids sometime mid-May. (When flu and virus season is well past us.) With any luck he'll do fine. His doctor was cautious and said that the following fall/winter she would put him back on the meds just to make sure he does well. And then again in the late spring we'll take him off again, but this time for good! Also, we are going to work with his swallow specialist to create a regimen to safely teach him to drink thin liquids with the hopes that his days of aspirating liquids are over. Saying good bye to Think-it will be a joy!

Tuesday, March 24, 2009

A long overdue update....

So we're set for the second part of Jack's IEP meeting tomorrow. The first part didn't go as well as we expected, thus the need for a second meeting. In a nutshell, the OT and PT didn't feel Jack needs those services through the ESY (extended school year for those of you unfamiliar with the IEP lingo). And we completely disagree, so we are fighting it.

On another forefront we are scheduled to see pulmonary tomorrow in the hopes that the generous Dr. Sterni will agree to allow us to experiment with Jack's thickened liquids. Meaning, we are hoping we can start thinning out his liquids and using less Thick-it. Not to mention weaning him off of some of his meds. The two daily doses of inhaled steroids being the first on that list to go if possible.

In the meanwhile I am happy to report that Jack's vocabulary has exploded. In the last four weeks we have heard nearly 20 words from him. Most are very difficult to comprehend and wouldn't be clear to the average person, but we know what he is saying, and more importantly HE knows what he is saying. He's trying very hard to verbalize more, with lots of encouragement from us. He now knows colors, numbers up to 5, and some shapes. And while playing trains the other day he put two words together to say "My house". This was a huge accomplishment.

Although he is making significant progress in his speech, there is still significant concern that he won't be ready for a "normal" kindergarten class when the time arrives. So we are adding yet more therapy to the regimen, with at least one more speech therapy session per week, thus bringing his therapy schedule up to seven sessions a week. That's a lot of therapy for a little kid. We're keeping our fingers crossed he'll tolerate it.

Friday, January 16, 2009

Happy New Year

We've been busy. Really busy, and yet it seems as though nothing has changed. Jackson continues to do well at his schools and is managing more verbalizations with every passing week. Most of his words are nearly impossible for the average person to understand, but we are able to decipher most of it through a combination of signs and lucky guesses. Jackson's favorite thing to play these days is Doctor to one of Ainsley's Cabbage Patch Kids. He changes its diaper and uses the stethescope that seems to be permanently around his neck to "listen" to the baby. Seldom do we leave the house without one of the disposable stethescopes (who knew they could be disposable?) we've acquired through our multiple hospital stays. And he drapes it around his neck just like the real docs do when not in use. It's pretty funny to watch him play. I wonder how much of it he remembers from these years of being poked and prodded himself...

Jason's job has had a bit of a lull, which has been a nice break for me. He has been able, over the last month, to help out significantly more with the shuffling of children to school, doctors' appointments, and therapies. That however will come screeching to a halt come February (so I've been warned) and the crazy marathon will resume again. I have however taken some steps to alleviate parts of it. We will now be taking Jackson to Mt. Washington Pediatric hospistal instead of the Kennedy Krieger Institute (which is downtown) for his weekly OT and PT sessions. The therapists are even working to find time slots together so that it is just one trip a week and one afternoon out of the office. I am concerned that this may too much for the Little Man, in which case we'll go back to two separate days. It will still be better than the current scenario, since the location is so much closer. Every little bit helps.

We are still waiting to hear back from the Doctor in Chicago who received the scans of Jack's brain in December for review. Additionally we're waiting to hear on the filamin A testing which was sent off in September. Who knew genetic testing to so long?

On another note, my company is currently going through a "change". The exact change remains to be seen. In fact this afternoon I will be attending a company wide meeting which, we suspect, will determine the fate of the site. In a nutshell, Shire Corporate will either sell the site, lock, stock, and barrel, or will keep the site and make some serious headcount reductions (by approximately half). There is no safe resolution with regards to my job, it seems it may just be a matter of time before my job may be at serious risk for elimination. I'm keeping my fingers crossed that this will not be the reality, but I'm not holding my breath.