Friday, January 30, 2009

and it all comes together

I would start this post by saying that I have had a day where everything makes sense but that would be a lie. Therefore, I will say I have had a day where everything came together. None of this will ever make sense to me. If I were a hardened murdering criminal, or a cocaine fiend without a care for her children than maybe I would understand why this happened. Although, today I took everything the neurologist said and did my own research. It was long and tedious, but I feel so much better understanding...truly understanding Jude's issues. The information I read brought everything the medical specialists have told me together in a bundle I finally understood. I am one of those people that have a need to educate myself on reasonings behind a situation like this. It may not help......and then again it may which I will get to later in the blog. So at this past doctor visit I told you that the neurologist acknowledged that Jude has "Bilateral Closed Lip Schizencephaly". Which we were told before, but I guess I truly didn't understand that this is Jude's primary diagnosis. If you are now rushing off to research this term I wouldn't caution you not to, because it's rather grim on some sites. Here is your definition "Schizencephaly is a congenital defect due to an abnormal development of the fetal brain. Schizencephaly is certainly an uncommon disorder of neuronal migrational characterized by a cerebrum-spinal fluid-filled cleft, lined by gray matter" So my understanding now is that somewhere probably between weeks 12-16 Jude had a bilateral stroke. They know this because they can see the old blood in his brain. The stroke then caused a neuronal migration disorder which basically in lay mans terms means Jude's neurons and brain cells didn't go the right direction. Therefore Jude's brain did not form correctly and thus the Schizencephaly.

I also found out Schizencephaly can present with the following issues:
Gray-matter heterotopia: are collections of gray matter in abnormal brain locations.
Polymicrogyria {Jude possibly has}
Arachnoid cyst {Jude Has}
Microcephaly {Jude Has}
Some individuals affected by schizencephaly, may have an excessive accumulation of cebrebrospinal fluid in the brain and caused ventriculomegaly and the hydrocephaly with macrocrania. {Jude has ventricumgegaly}
Absent of the corpus callosus {Jude's is very thin}
The septum pellucidum is absent in 80 % of the patients and may coexist with septo-optic dysplasia.

So it's like I looked at what happened in a vicious circle. Jude had a stroke, the stroke caused the migration disorder, the migration disorder caused the Schizencephaly, which in turn caused the other issues....whew! So I did contact the doctor today asking why if Jude had these "clefts" he could see, eat, hear, swallow, cry, smile, roll, etc. The doctor said because Jude doesn't have a cleft he just has lines. So it sounds to me like he does has bilateral schizencephaly, but without the clefts it's just lines which he said can be better.

So what is the prognosis you ask? Well in medical terms it's the following,
"Children with unilateral clefts have often hemiparesis, but may also have mild-to-moderate developmental delay. Severity is related to the extent of cortex involved in the defect.
Children with bilateral cleft are tetra paretic with severe mental deficits. They have frequently developmental delay, delay speech, abnormal language skills and corticospinal dysfunction. Netherless the degree of malformation is not related to the severity of epilepsy. Individuals with bilateral schizencephaly may also have microcephaly, associated with mental retardation and partial or complex paralysis, poor muscle tone and spastic quadriparesis. They present with early onset of epilepsy, sever motor delay and abnormality, and frequently blindness, deafness (one third of patients). Sometimes they can have some problems with brain-spinal cord communication.
The prognosis of schizencephaly is catastrophic, but depends essentially on the size of the clefts and the extent of neurological disabilities and the presence of associated lesions. Usually, complications such as chronic and acute infections, failure to thrive and respiratory problems, can be the cause of the death of the affected person. Usually patient with open-lip schizencephaly die at an earlier age than patient with the closed lip form. Sometimes, closed-lip schizencephaly may not present clinically until later during the childhood and may live to early adulthood
. " So this explains why the dr was so grim, but still had a little hope. It's like it all CLICKED in my head today because with my research, asking questions, and the doctors help I had it all layed out in front of me.

I had mentioned before that my research led me to believe I needed some blood work done, and the doctor also suggested this would be best. Well it does turn out I have an underlying blood disease........UGH! So that very well could be the cause of what happened to Jude. I don't know what is is yet, but I was told over the phone my platelets are "lazy to clot". So we know it's a clotting disorder which we know can cause strokes. I have to get further testing but I was told they are thinking it may be Glanzmans Thrombasthania, Bernard Souliers Disease, or Von Willebrands disease. They said they are leaning towards the first two which are rather rare and genetic. I don't think there are any serious issues with the problem because I can clot, and have had no issues before. It does make sense though because I have ALWAYS bruised easily, had gums that bleed, bled a lot after birth, etc. They don't have the factor V test back yet, but they will by the time I go see them on the 4th. So I will keep you updated on everything. I know it all sounds so confusing, but for the first time in a long time it all ties together, and just makes a complete connection for me. Once I find out what the underlying blood issue is I will have to have Emily tested. She has frequent bloody noses so I am concerned she might have it as well. I know she will be less than thrilled to get tested...ugh!

On a good note Jude and Mike came by to see my today, and Jude was alert. He even looked like he wanted to smile at me, but couldn't quite get that little grin to show. Well I hope I have not overwhelmed you. Please have a great and safe weekend.


jocalyn said...

Wow. You've done your homework. Kendall's diagnosis is very similar...9 months ago I wouldn't have understood anything you just wrote...unfortunately, I do now. But every child is different and I have no doubt Jude will be a little fighter and surprise everyone, just as Kendall has! You're a great mommy! NOW, DONT RESEARCH ANY MORE!!! Enjoy your weekend!

Bird said...

I'm a stranger here, but I saw your comment on Ellen's blog and thought I would come by.

I read all that stuff that you found on the internet and realize that you're just digesting it all. I wanted to throw in my own thought, though. I hope you don't mind.

I realized a long time ago that what doctors think of as terrible and "catastrophic" is really a liveable situation.

I completely reject all of the information that I find on IQ and kid's with brain damage. If I can't be there to see the testing then I just won't accept it. I worked in special ed for years and realized just how flawed those tests are. . . gosh, I could do a whole post on that, so I should stop.

I think it's great that you are educated yourself about your child and I have definitely been in that place where I read and read and read just trying to make sense of it all. At a certain point I realized that I had read it all and it was time to go on instinct. I still use the computer, but I don't let some nameless electronic people tell me that what has happened to my child is "catastrophic."

Sorry for the rant!

Anonymous said...

This is a very impressive post, and not just for all the technical and accurate medical information.

The 'aha' you feel is so important. I hope lots of parents read your post. There is ample to encourage any parent to try to find the answers that linger in their minds.

Also, finding out about/if you have a bleeding disorder - very helpful for both you and your daughter.

All the best, Barbara

Anonymous said...

Looks like Bird's comment and mine arrived at the same time. She is so right about what physicians say is not always as dire as THEY think. Here's a recent post you might want to read (not mine):

I've also read many "why me?" posts. I think what you have done for yourself is answer questions that, if they linger, might hold you back from moving forward. Again, I congratulate you for all your work and progress.

Lori said...

I am also a stranger to your blog, but I wanted to Jocalyn's response. I recieved the grim news 3 1/2 years ago that I would have a special needs child, do to an in utero stroke. But as she said every child is different. When I first started all the research I was devastated. I was unable to find one site that talked about a survivor without any long term effects. Someday soon I will put my entire story out there, but for now I hope that you can find hope in my survivor. She has surpassed all that we had hoped for. She is above average in her language skills, cognative skills, and has no signs of weakness. She has more that survived, and so can Jude. Just know that God only give you what you can handle.

Kathleen Zumbach said...

I have had a stroke at 7 months old
I had a temp of 103.5i have open lip schizencephaly.