tag:blogger.com,1999:blog-89337726259467406362024-02-06T23:53:57.355-05:00A Day in the Life....Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.comBlogger89125tag:blogger.com,1999:blog-8933772625946740636.post-72840161270559976102014-01-09T09:52:00.000-05:002014-01-09T09:52:22.688-05:00Four score and two lifetimes ago.<div class="separator" style="clear: both; text-align: center;">
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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.</span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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. </span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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.</span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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. </span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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.</span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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. </span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">So I have to ask myself, if the facts haven't changed, why do I find myself struggling with his diagnosis NOW?</span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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.</span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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.....) </span><span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">I have said all of these things a thousand times, but saying it and accepting it are not the same. </span><span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">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.</span><br />
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<span class="Apple-style-span" style="font-family: 'Helvetica Neue', Arial, Helvetica, sans-serif;">Be well. Be kind. Be love.</span>Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-23564219627875118872010-01-09T15:48:00.002-05:002010-01-09T15:55:01.642-05:00The 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:<br /><br /><br />Re: Jackson Bender<br /> DB#: LR09-329<br /> DOB: 9/19/2005<br /><br />Jason and Lauren --<br /><br />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.<br /><br />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.<br /><br />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.<br /><br />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.<br /><br />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 <mking@bsd.uchicago.edu> about this.<br /><br />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<br /><br />WBD<br /><br /><br /><br />Now that clears it all up, doesn't it? ARGGGGH.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com2tag:blogger.com,1999:blog-8933772625946740636.post-61956640497193158132009-08-28T15:45:00.005-04:002009-08-28T17:07:19.302-04:00Mother 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.<br /><br />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.<br /><br />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.<br /><br />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.<br /><br />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.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-26591790143889515612009-07-21T08:14:00.003-04:002009-07-21T08:21:42.961-04:00Thank You Mr. MrazI 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.<br /><br /><br />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.<br /><br />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. <br /><br />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...)<br /><br />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. <br /><br /><iframe allowfullscreen='allowfullscreen' webkitallowfullscreen='webkitallowfullscreen' mozallowfullscreen='mozallowfullscreen' width='320' height='266' src='https://www.blogger.com/video.g?token=AD6v5dyWUtigxncM0XsqYoOKHDp2osXWbJwECQe8tu1LyfG73gOlfIwpuFU4UWBFUUcxK6ke5Irf6Sp1d1XDqtWzQA' class='b-hbp-video b-uploaded' frameborder='0'></iframe>Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com1tag:blogger.com,1999:blog-8933772625946740636.post-32593723637665894672009-03-25T18:19:00.004-04:002009-03-26T10:30:22.786-04:00Round 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.<br /><br />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. <br /><br />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!Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-3967501808211260462009-03-24T22:26:00.002-04:002009-03-24T22:51:12.537-04:00A 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.<br /><br />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.<br /><br />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. <br /><br />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.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-76806639595958113302009-01-16T10:56:00.003-05:002009-01-16T13:37:09.230-05:00Happy New YearWe'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...<br /><br />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.<br /><br />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?<br /><br />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.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com1tag:blogger.com,1999:blog-8933772625946740636.post-53715319701466301622008-11-24T08:35:00.003-05:002008-11-24T09:45:36.822-05:00Three is painful.<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiDVE-idKHDORZ_TPpH20gTVgbXtT0DawnZ-NBI_JpYGBSSeFCmRyChD6h89TTZ1F521wJ6_dbHJLH-6GaSdo6DZFobIWRDjes-8U1Ty-uOcnmpOhUP8AAwqHZQ9D3uDFaX3AY4gOOV7qU/s1600-h/jack.JPG"><img style="display:block; margin:0px auto 10px; text-align:center;cursor:pointer; cursor:hand;width: 186px; height: 200px;" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiDVE-idKHDORZ_TPpH20gTVgbXtT0DawnZ-NBI_JpYGBSSeFCmRyChD6h89TTZ1F521wJ6_dbHJLH-6GaSdo6DZFobIWRDjes-8U1Ty-uOcnmpOhUP8AAwqHZQ9D3uDFaX3AY4gOOV7qU/s200/jack.JPG" border="0" alt=""id="BLOGGER_PHOTO_ID_5272235048398191218" /></a><br />Jason often teases Ainsley by telling her that he refuses to let her grow up, that she must remain five years old forever. She always scrunches up her nose and retorts with a resounding "But Daddeeee, I'm six!" And while I wish we could keep her as she is now, forever adoring and still somewhat obedient, I know this is just not possible.<br /><br />Jackson, on the other hand, cannot grow up fast enough. We have had a very difficult time of it lately with Mr. Man. He is absolutely defiant, onery and just plain mean sometimes. We have tried every means of discipline we know, some we have been educated on by our pediatrician, and all have failed miserably. Not only has his behavior not improved, it has actually gotten worse. Something I didn't think was possible.<br /><br />We are absolutely at the end of our ropes. Terribly frustrated and looking for both someone to blame and someone to help. We catch ourselves barking at each other, and remind one another that this is a terribly stressful time for us, one we hope to get through quickly and without any permanent scars or innocent casualties.....<br /><br />I am scheduled to attend his parent-teacher conference this morning. Last week his teacher sent me an email, after I inquired about coordinating efforts between school and daycare. Here's an exceprt:<br /><br /><em>"We are working with Jack on some individual goals such as answering yes/no questions and pointing to items when given a choice of 2 to 3 to demonstrate understanding of the lesson/story....He is not attempting to repeat most words, but he will attempt to repeat/vocalize some words throughout the day....One of the main areas I am focusing on is getting to participate in the group life of the class with less adult prompting. He does not like to play on the play ground, I often walk with him up the stairs and go down the slide with him to get him started as he wants to sit on the bench. We are working on how to play with the toys in the classroom and the playground equipment. <br /><br />He does much better when in a one on one situation with the adult as he often does not follow directions given to the group but needs them repeated to him independently. Jack also requires extended wait time to respond we usually give him 20 to 30 seconds before prompting again. With the extended wait time he will attempt to answer the question/follow the direction the first time given 50% of the time."</em><br /><br />This morning when dropping jack off to daycare, his teacher informed me that before his bus comes in the morning he won't play or interact with the other children. He sits quietly in a chair against the wall, and watches. The same in the classroom, with little, if any, interaction with his classmates. But his behavior at both daycare and school is angelic. Really. He is the perfect little helper according to his educators.<br /><br />We have come to the conclusion that before we completely lose our sanity, Jason and I have to talk to someone. A therapist who specializes in dealing with the challenges special needs children often present. Our gracious Pediatrician, Neurologist, and daycare Social Worker are all searching for such a person. Surely one exists somewhere.....Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-66902155801287200082008-11-15T06:19:00.003-05:002008-11-15T06:22:28.586-05:00And the results are in...Well not all the results, but one of the results came back. Jack's genetic screening for AT came back negative! Such good news, and I am very relieved. There is however one test still pending, the screening for the mutation of the Filamin A gene. We are hopeful this one will come back negative as well. No telling how long it will take to those results though as a research lab at Hopkins is performing the test. That translates to: they work at their own pace. There is absolutely no rush. So we continue to wait.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-53796974709305417422008-10-20T10:19:00.002-04:002008-10-20T10:34:54.625-04:00I can no longer avoid it.I've been trying, in a very un-American way, to avoid the election coverage. I have my own political views and beliefs, which are for the most part none of anyone else's business. I hate talking politics - probably because I feel remarkably uneducated on the subject of and issues related to. But I can't stand it any longer.<br /><br />The republican nominee, who's name I cannot even bring myself to mention, is unbelievably shallow. Saying that he/they understand what it's like to have a special needs child because the VP nominee's infant son has Down Syndrome is like saying that because Jason's father died of cancer 15+ years ago, I understand what it is like to have cancer. PLEASE.<br /><br />I cannot possibly do this topic justice. Thankfully someone else has. I urge you to read <a href="http://www.parents.com/dgroups/persona.jsp?userId=2bda4ddea688e36a3447963d739fcab7&plckController=PersonaBlog&plckScript=personaScript&plckElementId=personaDest&plckPersonaPage=BlogViewPost&plckPostId=Blog%3a2bda4ddea688e36a3447963d739fcab7Post%3ab9fdc798-adb4-4bbd-bdfe-fbe4ed05985b&plckCommentSortOrder=TimeStampAscending">I Know Nothing About Special Needs</a>. Really - worth the time.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com2tag:blogger.com,1999:blog-8933772625946740636.post-8210227498226169252008-10-18T12:58:00.002-04:002008-10-18T13:04:13.779-04:00Still waiting.No I haven't forgotten to update with the results of Jack's latest round of genetic testing. We simply haven't received them yet. And while I realize "these things take time", as mentioned multiple times by our Genetic Neurologist, I am becoming increasingly impatient with the process. Testing that was to take four weeks has now stretched on beyond six weeks and counting. I am a patient person, but enough already. Given the possible outcomes, every single moment really does count. A lot.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-1525307588710558562008-10-10T15:21:00.001-04:002008-10-10T15:33:45.949-04:00I hate to brag...But I will. I rock. No really, this time, I've outdone myself.<br /><br />I returned from Miami yesterday, tanned, and somewhat rested, to my usual chaos. Jason came home from work and was clearly in a grumpy mood. Noting this, I called him this morning on my way in and asked why he was so blue. He simply said he just needs to get out and have some fun, you know unwind a bit. So when I arrived at work, I was determined to find something for him to do to blow some steam off.<br /><br />Some of you may know both of the following facts: Jason is a HUGE Phillies fan. The Phillies are currently in the race for the pennant. Game two of the NLCS is being held in Philadelphia this afternoon. So I went on Stub Hub (Ouch!) and bought two tickets to the game. I called one of Jason's closest friends, Scott, and asked him to meet Jason in Philly for the game. Then I called Jason. I could hear the smile over the phone and knew I had hit a home run (sorry I couldn't resist). <br /><br />So he's off to Philadelphia to have some fun - and I am sure he'll do just that.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com1tag:blogger.com,1999:blog-8933772625946740636.post-602009109836645592008-10-05T21:30:00.003-04:002008-10-05T21:52:39.137-04:00Back from the oblivionHello dear readers. Thanks for staying tuned during my brief intermission. I've been short of time lately and completly unable to blog. And I've missed it terribly.<br /><br />This past Wednesday was Jack's first day of "special ed" classes. I drove him to daycare at the usual time and proceeded to wait for the bus to arrive. Not trusting two county employees I've never met, I felt the need to physically be there for his first bus ride. <br /><br />We've been prepping for weeks, reading stories about buses and schools, even one "social story" written just for Jack by his new teacher. And when the big day arrived, he was excited (as far as I could tell) to ride the bus. I kept asking "Jack, who is riding the bus today?" and he would respond with an "aak" and point to himself. <br /><br />When the announcement came over intercome system at school that "Jack's bus is here" his face lit up with surprise and astonishment. As we walked outside, the surprise was quickly replace with fear and the screaming began. The two county employees were cordial and tried their best to assess the situation, but there was no comforting him. I only had time to kiss him good bye and fasten his seat belt. He was completely petrified with fear and there was nothing I could do about it. The bus had a schedule to keep and I had to get off so they could move on. <br /><br />As I stepped off the bus, the doors closed and the tears flowed. I couldn't help but feel that I failed him completely, that I made the wrong decision. I wanted to get in the car and chase the bus down. But I knew that was not the right thing to do. Instead I got in my car and cried. <br /><br />Jack's journey has been a long one, full of challenging moments requiring more strength than I ever thought I had. Taking him in for general anestesia, for example, is never fun or easy. The stuff smells like jet fuel no matter what flavor lip balm they smear around the edges. But the fear doesn't last long, and I know he won't remember the experience when it is all said and done. There was no such comfort putting him on the bus, facing similar fears. I was a train wreck for the rest of the day. My nerves were raw and distraction from my concern was difficult to come by.<br /><br />The next day, I chose not to be present for the arrival of the bus. Heidi, the social worker at his daycare who I've come to rely on, filled me in with the details that day. "He was great. Happily walked right on to the bus without a care in the world." Wow. He was playing me all along.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com3tag:blogger.com,1999:blog-8933772625946740636.post-77207686285769076482008-10-01T10:32:00.003-04:002008-10-01T10:36:35.522-04:00Post TimeI desperately need to post. I yearn to post. However, I have no time at the present to write a proper post. I am travelling to Miami on Sunday, again for business, at which point I hope to take some time by the pool to blog. Pray for sunny weather, the last time I was there, so was Fay.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-85726806398722107052008-09-23T08:23:00.005-04:002008-09-23T08:56:03.826-04:00JudgementI hate to do this, but I must. I've simply become too bitter to not blog about it and hope for some relief.<br /><br />I have recently gone through a nasty break up - no not with my adoring husband. A person who I considered one of my best friends, just used an overly stupid excuse to explain that she no longer wants to be my friend. Her excuse? She doesn't like my husband. No really. And while her email describing her issue with Jason was more detailed than that, the point was pretty much the same. (And yes, it was delivered via email.)<br /><br />Now I have unbelievably great girlfriends, some of which have husbands who, well, shall we say they aren't the most considerate of men. I don't pass judgement on their relationship, they are all big girls and can handle the situation. And if, God forbid, they come to a point where they can't or don't want to handle it any more, then I am confident that they know how to solve the problem. (I don't mean using a mediator by the name of Smith and Wesson either.) And should that time come, if they need my support then they will have it. Until then, I am a compassionate friend, listening, offering my opinion when solicited (and sometimes when not solicited) but NEVER judging. That's simply not what friends do.<br /><br />This particular former friend, seems to think it is okay to pass judgement, and apparently thinks I should be grateful for her friendship and input. Well, no thanks. And while there is so so so much more I would love to vent about regarding this situation, I won't. Simply put, the friendship no longer exist. I don't acknowledge her, she avoids me, and we move on. What a waste.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com2tag:blogger.com,1999:blog-8933772625946740636.post-46664196688241552522008-09-19T08:29:00.005-04:002008-09-19T09:17:42.991-04:00Happy Birthday Jack!<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj2J2kIHhyphenhyphen7W68Le4SKQeEligs_cnUQbOM7cP_WW8fxYcgcrr4co1GkNGxKe2w5rBSgbqVxl1faarZTze_my0wY4XJCzQAT7BPts5dfJXNawDg66VB1h85_G6mqqo91U5bD04JsHtESUHE/s1600-h/bd.jpg"><img style="display:block; margin:0px auto 10px; text-align:center;cursor:pointer; cursor:hand;" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEj2J2kIHhyphenhyphen7W68Le4SKQeEligs_cnUQbOM7cP_WW8fxYcgcrr4co1GkNGxKe2w5rBSgbqVxl1faarZTze_my0wY4XJCzQAT7BPts5dfJXNawDg66VB1h85_G6mqqo91U5bD04JsHtESUHE/s200/bd.jpg" border="0" alt=""id="BLOGGER_PHOTO_ID_5247712099777351858" /></a><br />At about 3:00 AM on this day, three years ago, I woke Jason and informed him "It's that time". After a few moments of incoherence, Jason shook off the sleep and was up and dressed in a flash. We packed up the car and calmly drove the short route to the hospital. Later that day,at 6:01PM, Jackson Elliott Bender entered the world. It was the beginning of a difficult but beautiful journey.<br /><br />So happy happy birthday to my Boy. I hope this day is filled with all his favorite things: cars, trucks, books about cars and trucks, Elmo, Blue, Rocket, trains, lawn mowers and vacuum cleaners. <br /><br />Thanks to those of you who have recently helped us celebrate all things Jack; Our happy HEALTHY baby Boy.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com1tag:blogger.com,1999:blog-8933772625946740636.post-90737786491954718552008-09-08T13:02:00.002-04:002008-09-08T13:05:43.390-04:00EchocardiogramGood news! Jack's echo was completely normal. This is obviously great news, however the genetic testing we drew blood for on Friday will ultimately give us the best indication regarding any possible cardiac implications. Three weeks and four days for those results.....not that I'm counting.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-94374455581215002008-09-07T21:02:00.001-04:002008-09-08T12:50:58.862-04:00Forever FiveJason and I tease Ainsley that she will be five years old forever. That we've decided she won't have any more birthdays, because we really enjoyed her at the age of five, and we want to continue to enjoy it. So no more birthdays for her. She usually scrunches up a silly face, and says "You're kidding. Right?" We just give her a smirk but we both know we're not really kidding.<br /><br />We drove to New Jersey on Saturday for one of our dear friends' daughter's birthday party. She and Ainsley are nine months apart and get along famously. It was to be a sleepover (for us all) so we were (over)packed appropriately. On the drive up Ainsley was talking to us, the topic I don't recall. As I sat there listening to our Girl, it was hard for me to remember she is six years old. Not because the manner of her speech, but because I can hardly believe she's six. I keep picturing her little cherub face at three years old surrounded by her long wavy dark blonde hair. I am sometimes shocked to open the car door and see her so grown. <br /><br />But I am thankful for those stunning moments that remind me to slow down and enjoy her often quirky little ways. It is nothing short of remarkable that, for the amount of time Jackson and his appointments have demanded, she is as well adjusted as she is. She has shown no bitterness or jealously towards her little brother or the effort he requires, and she would have reason to pout, but she chooses not to. At six years old, she's more mature than many adults I've known.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com2tag:blogger.com,1999:blog-8933772625946740636.post-40859269506558205842008-09-07T13:16:00.001-04:002008-09-07T13:32:46.787-04:00Follow up FridayAs mentioned in my previous post, Friday was spent dashing from appointment to appointment along North Broadway. <br /><br />Jackson's echocardiogram finished up around 10:15 (we don't have the results yet), just in time to dart down the street to KKI for his PT appointment. He has a new therapist there, so it was very much like starting over again. I'm usually more prepared for such things, providing his mildly extensive history via thumb drive or spreadsheet. (Seriously) But Friday I didn't have either with me, so I had to go through it all again verbally. <br /><br />Once finished with PT, we trotted on back up to the main hospital to pick up a copy of Jack's latest MRI. Ronni (Genetic Neurologist) has suggested we request Dr. Bill Dobyns of Chicago to read it as well. Dr. Dobyns has agreed, and had some intersting input on the unofficial report(quite contrary to Ronni's). So I'll be sending the CD-ROM of images to him (along with a "donation" to his lab - as required by the good doctor).<br /><br />We were attempting to do Jack's blood draw prior to our next appointment at KKI (Fairmount campus) but due to the unusual nature of the testing to be performed it was taking the phlebotomist quite a lot of time to sort out the coding. So we gave up and went to see Dr. Lipkin. He didn't have anything truly profound to say, although he noted that he was very pleased with Jackson's increase in verbalizations. He also said that he had never seen heterotopia or hypoplasia before, something that was quite astounding to me considering he is known as one of "THE" foremost developmental pediatricians in the country.<br /><br />Once we finished with Dr. Lipkin, or rather he with us, we trudged back down to the main hospital to complete the blood draw. Luckily, the paperwork and coding had been ironed out, and the draw was quick, though not painless.<br /><br />Four weeks for the results, although once again no seems to think any of the tests will reveal new information.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-4516124137235570392008-09-05T02:47:00.000-04:002008-09-05T00:19:13.697-04:00Celestial alignmentWe will tomorrow, have the great pleasure of spending almost all day (9:00am to 3:30 or so...) downtown on the campuses of Johns Hopkins and Kennedy Krieger. We have a string of appointments and therapies all of which, more of less, occurred by happenstance. It is remarkable luck to have so many appointments scheduled on one day - less trips downtown, less work missed, less parking to be paid.....the kind of luck brought on by proper alignment of the celestial bodies.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-84691479555063398062008-09-03T13:02:00.001-04:002008-09-03T14:14:56.879-04:00Let me clarify a few things...First and foremost, I know it could be worse. We are very fortunate that (for the most part) we all have our health. However, telling myself that hasn't seemed to ease my melancholy of late.<br /><br />Secondly, several people (whose names will remain anonymous) have remarked that they have chosen not to read the blog, because "well, its just so hard." One individual even went so far as to call it depressing. Really? What a revelation. I'd like to scream at these people and say "Gee you think?!" But I refrain. I created this blog as more than a method of communicating Jack's issues. It is my own personal sounding board. And while not all the entries are about Jack, he does continue to be the biggest source of my own personal strife. It was only recently, after discovering several other blogs kept by special needs parents, that I figured out it is okay to have an insane range of emotions when dealing with your children (any children - not just special needs children), and even more okay to blog about it.<br /><br />Thirdly, please don't feel sorry or pity for our situation. As I pointed out above, it could be worse. I have my days when I don't mind the uncertaintity so much, lately those have been fewer and far between. Somedays I may be less than prompt in responding to emails, less than perky when greeted out and about, or just plain disheveled looking, remember this blog and you'll know why.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-46933081596931934072008-09-02T21:34:00.000-04:002008-09-02T22:07:15.290-04:00Our meeting with Ronni, Jackson's Genetic Neurologist, went pretty well. He seems unconcerned about the possibility of AT, and feels confident that we will receive a negative result when we do the genetic screening. And we will be doing a screening for AT as well as the Filamin A genetic mutation. Friday, I'll be dashing down to Hopkins first thing in the morning for Jackson's echocardiogram, blood draw, and physical therapy session at Kennedy Krieger. The results of the blood draw won't be available for three to four weeks.<br /><br />We drove the kids to my parent's house in Kentucky for the long weekend. It was a nice reprieve from the daily grind, and we were fortunate enough to enjoy a visit from my brother and his family. While we were there we received some heartbreaking news. Our friends, Rick and Amy Bucher, lost their three year old daughter to neuroblastoma. Arden battled fiercely for the last ten months while Rick and Amy researched and fought for every treatment possible. In the end, the disease was just too much. We are deeply, deeply saddened. I could blog about this for a very long time. Amy and RIck are truly amazing people and Arden was a little ray of pure sunshine. But you would be better served to read about their unflappable spirit yourself. Arden's page is linked on my blog page - it will be time well spent I assure you.<br /><br />The sadness of Arden's passing is more overwhelming than I ever thought it would be. Couple that (although this pales in comparison) with the newest round of information about Jack, and I have found myself in a bit of a melancholy funk. Not exactly sad, but far from contentment.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-67872062736043320382008-08-25T22:37:00.000-04:002008-08-26T09:55:23.980-04:00Fragment IMy thoughts are, at best, very scattered now, my mind racing a million miles a minute. Bear with me.<br /><br />I have read, reviewed, and re-read the email from Jackson's Genetic Neurologist detailing the findings from his MRI. After the most recent re-read, I realized I completely missed the first finding, Unilateral Cerebellar Hypoplasia. So I did what any technologically savvy mother would do and I Googled it. I found it on the <a href="http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm">NINDS</a> website, which can sometimes be too much information, if you know what I mean.<br /><br />It was alarming to read the description, particularly because of the reference to <a href="http://www.ninds.nih.gov/disorders/a_t/a-t.htm">Ataxia Telangiectasia</a> which has been a topic of discussion for us before. Jackson now has two of the classic markers of AT, a thought which leaves me anxious. After careful consideration and a discussion with Jason, I emailed Ronni (Genetic Neurologist) to clear the air. Fully expecting a scolding for spending too much time online, the reply I received was not so light hearted.<br /><br />His reply was as follows:<br /><br />"Despite the finding of unilateral cerebellar hypoplasia, I still think that Jackson does not fit the clinical phenotype of children with AT, the MRI findings in patients with AT (regarding the cerebellar hypoplasia) are much more pronounced and probably more importantly, as far as I know, have never been shown to exhibit periventricular nodular hypoplasia. I also think that the periventricular nodular hypoplasia finding is the most significant finding on Jackson's MRI.<br />Having said all of this, as we have discussed before, most of genetic syndromes present with a wide variety and Jackson is still young enough to not present with the all the classical features of AT. Therefore, if you want us to rule this out, we can look into it."<br /><br />Translation: We cannot say AT is not a possibility. They only way rule it out is to perform expensive time consuming genetic testing. An option we are set to discuss with Ronni this afternoon in his office.Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-64595503681508787902008-08-22T13:09:00.000-04:002008-08-24T09:12:01.238-04:00A Googling We Go<div>Forgive me if this isn't the most clever of posts, but my brain is swimming with medical jargon and new bits of information resulting from my latest Googling marathon. (It should be an olympic event.) Here's what I have come up with so far:</div><ul><li>Unilateral Periventricular Nodular Heterotopia is a conditon of the brain in which gray matter is found in areas where the should be white matter.</li><li>The outer layer of the brain is known as the cerebral cortex or the ‘grey matter’. It covers the nuclei deep within the cerebral hemisphere known as the ‘white matter’.<br />Grey matter is the closely packed neuron cell bodies form the grey matter of the brain. The grey matter includes regions of the brain involved in muscle control, sensory perceptions, such as seeing and hearing, memory, emotions and speech.<br />White matter is the neuronal tissue containing mainly long, myelinated axon, is known as white matter or the diencephalon. The nuclei of the white matter are involved in the relay of sensory information from the rest of the body to the cerebral cortex, as well as in the regulation of autonomic (unconscious) functions such as body temperature, heart rate and blood pressure. Certain nuclei within the white matter are involved in the expression of emotions, the release of hormones from the pituitary gland, and in the regulation of food and water intake. </li><li>The genetic mutation that causes this condition also has very serious cardiac implications, causing narrowing of the arteries and heart failure.</li><li>Along with this diagnosis comes the official label "mentally retarded". The severity of which varies from case to case.</li></ul><div>We are somewhat relieved to have some answers and realize the news could have been much, much worse. On the other hand, this is not the news we were hoping to hear. We will be taking Jack in soon for another round of genetic testing and an echocardiogram and we'll be sitting down with Dr. Cohn (his Genetic Neurologist) to go over the actual scans. The results of these appointments, along with the information we already have, should help us process the diagnosis and come up with a plan of action.</div>Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0tag:blogger.com,1999:blog-8933772625946740636.post-47070109846125727212008-08-20T15:44:00.000-04:002008-09-03T13:24:05.192-04:00MRI Results<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjbYNrwmNJes4r0rcPTbevS_OTtseSAbrnNFrikFAW1XxPmKY1AO5qAy68LyUhsKGumbk1GSjLOO-GGR9YJlBHFtiJ7E7S5JaIIj62W9dwgMB0GlTS69DF9_i1gL43bqyWHdFiORY1Oe4M/s1600-h/jack.bmp"><img style="display:block; margin:0px auto 10px; text-align:center;cursor:pointer; cursor:hand;" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjbYNrwmNJes4r0rcPTbevS_OTtseSAbrnNFrikFAW1XxPmKY1AO5qAy68LyUhsKGumbk1GSjLOO-GGR9YJlBHFtiJ7E7S5JaIIj62W9dwgMB0GlTS69DF9_i1gL43bqyWHdFiORY1Oe4M/s200/jack.bmp" border="0" alt=""id="BLOGGER_PHOTO_ID_5241847068496487762" /></a><br />We finally have the results of Jackson's MRI from last week. Dr. Cohn, his Genetic Neurologist, called me this morning to discuss it. And this time there actually are some findings to discuss. Here they are in official medical jargon:<br /><br />Jackson has unilateral right cerebellar hypolasia with intact left cerebellar hemisphere and vermis (although the inferior vermis is lightly small). He also has subtly smaller volume of the left cerebral hemisphere, probably related to cerebellar-cerebral connection. Additionally there is a finding of a left parietal periventricular nodular heterotopia.<br /><br /><br /><br />What does this mean? I've only had a few hours to digest all of this - and even less time to research it. The basics that I understand at this point are as follows:<br /><ul><li>The volume of Jackson's left hemisphere is slightly diminished in size.</li><li>His inferior vermis on his right side is slightly small. (I don't know what this is either.)</li><li>In his left hemisphere there is gray matter where there should be white matter. </li></ul><p>This last finding is the most significant. This is a Neuronal Migration disorder, meaning that when the cells of Jack's brain were forming in utero, some of the cells didn't get the message as to where they should be and what they should be doing. Hence the gray matter where the white matter should be. This mislocation of gray matter causes developmental delays, gross motor issues, hypotonia, speech and language delays, and seizures. And while Jack has only had one seizure, post operatively there is significant reason to believe he will have more seizures. </p><p>As with many neurological disorders, the severity of issues varies greatly from patient to patient. This condition is rare and nearly never found in live males. Most afflicted males die in utero.</p><p>During our conversation this morning, Dr. Cohn said we would be doing further genetic testing specifically, the Filamin A gene. It is very likely that we will find a mutation of this gene, given this is the most common cause of these malformations.</p><p>I suspect I will find more information on these issues. I spent a brief period of time Googling the subject this morning and now have a stack of reading material to get through while I wait for my flight home.</p>Laurenhttp://www.blogger.com/profile/06285899035513948570noreply@blogger.com0