We've heard so many amazing things about CHOP, and I have to say, they absolutely lived up to their reputation during this first visit. Every single person we met with was both incredibly knowledgable and personable, and made us feel like we were their most important patient.
Dr. Vanderver (the #1 leukodystrophy doctor in the nation and the reason we went to CHOP) is nothing short of phenomenal. She explained that myelin (the stuff that makes up our white matter in the brain - it's like the insulation on the wiring of your brain) is not fully developed in humans at birth. That's why other animals can get up and walk within a few hours, and human babies cannot. In fact, our white matter continues to develop until we are 25 years old.
In Adelyn's case, there is a distinct abnormality in the development of her white matter. However, because she is so young, it is rather difficult to diagnose - babies just have so little myelin as it is. So, she felt that it was really too early for our initial hospital to diagnose leukodystrophy conclusively. With only one MRI at only 4 months old, it is hard to tell if it is DEmyelination, or delayed myelination. The doors basically opened to a lot more possibilities of what Adelyn's disorder could be, although our primary focus does continue to be leukodystrophy.
She feels that the type of disorder we should focus on right now is a leukodystrophy called Aicardi-Gouitieres Syndrome (AGS). They did a spinal tap on Adelyn to measure a wide range of diagnostic information for a variety of disorders, some of which will tell us whether we are going in the right direction with AGS, or if we should move on and keep looking at other possibilities.
A spinal tap is similar to an epidural, and since they use local anesthetic, isn't very painful. However, it's important to be very still for the procedure, so they have to hold babies down. They asked us to leave for the spinal tap because babies typically become very upset, and it's harder with parents worried in the room. We came back 20 minutes later and they told us she was one of their very best patients and that she hardly cried until they started to put her onesie back on -- she's not a big fan of getting changed! ;)
Several of the non-leukodystrophy conditions we could be looking at ARE, in fact, treatable. It's important to note that treatable is very different from curable, but would be an incredible blessing. AGS also currently has a clinical trial for an experimental treatment medication going on right now. The results of our spinal tap (expected in 2-3 weeks) will tell us whether we should continue on in the direction of figuring out whether Adelyn could qualify for this treatment study.
We also saw a wide range of specialists: nutritionist, therapists, speech/language pathologists, resource specialists - who gave us a lot of helpful information on ways we can best support Adelyn's development. We were there from 8:15am - 5pm with very little downtime, and it was SO good to just be surrounded by a team of people who cared as much about finding a diagnosis and helping Adelyn as we do.
Okay, I know I'm a long-winded writer, so here is what we need you to pray for, and it's okay if you just skimmed the nitty-gritty above: :)
1. Pray for a speedy diagnosis.
2. Pray for a treatable disorder.
3. Pray that we reach our fundraising goal for a service dog quickly so that we can get on the waiting list to get our pup (and prayers work even better of course when they come with action - please share our story and fundraising link with others! https://www.plumfund.com/pet-fund/adelynstribe-4-paws-4-adelyn).
I just don't even know how to put into words how grateful we are for all of you. We are touched that so many people care about Adelyn. We believe your prayers are truly making miracles happen. We love our tribe deeply.
Dr. Vanderver (the #1 leukodystrophy doctor in the nation and the reason we went to CHOP) is nothing short of phenomenal. She explained that myelin (the stuff that makes up our white matter in the brain - it's like the insulation on the wiring of your brain) is not fully developed in humans at birth. That's why other animals can get up and walk within a few hours, and human babies cannot. In fact, our white matter continues to develop until we are 25 years old.
In Adelyn's case, there is a distinct abnormality in the development of her white matter. However, because she is so young, it is rather difficult to diagnose - babies just have so little myelin as it is. So, she felt that it was really too early for our initial hospital to diagnose leukodystrophy conclusively. With only one MRI at only 4 months old, it is hard to tell if it is DEmyelination, or delayed myelination. The doors basically opened to a lot more possibilities of what Adelyn's disorder could be, although our primary focus does continue to be leukodystrophy.
She feels that the type of disorder we should focus on right now is a leukodystrophy called Aicardi-Gouitieres Syndrome (AGS). They did a spinal tap on Adelyn to measure a wide range of diagnostic information for a variety of disorders, some of which will tell us whether we are going in the right direction with AGS, or if we should move on and keep looking at other possibilities.
A spinal tap is similar to an epidural, and since they use local anesthetic, isn't very painful. However, it's important to be very still for the procedure, so they have to hold babies down. They asked us to leave for the spinal tap because babies typically become very upset, and it's harder with parents worried in the room. We came back 20 minutes later and they told us she was one of their very best patients and that she hardly cried until they started to put her onesie back on -- she's not a big fan of getting changed! ;)
Several of the non-leukodystrophy conditions we could be looking at ARE, in fact, treatable. It's important to note that treatable is very different from curable, but would be an incredible blessing. AGS also currently has a clinical trial for an experimental treatment medication going on right now. The results of our spinal tap (expected in 2-3 weeks) will tell us whether we should continue on in the direction of figuring out whether Adelyn could qualify for this treatment study.
We also saw a wide range of specialists: nutritionist, therapists, speech/language pathologists, resource specialists - who gave us a lot of helpful information on ways we can best support Adelyn's development. We were there from 8:15am - 5pm with very little downtime, and it was SO good to just be surrounded by a team of people who cared as much about finding a diagnosis and helping Adelyn as we do.
Okay, I know I'm a long-winded writer, so here is what we need you to pray for, and it's okay if you just skimmed the nitty-gritty above: :)
1. Pray for a speedy diagnosis.
2. Pray for a treatable disorder.
3. Pray that we reach our fundraising goal for a service dog quickly so that we can get on the waiting list to get our pup (and prayers work even better of course when they come with action - please share our story and fundraising link with others! https://www.plumfund.com/pet-fund/adelynstribe-4-paws-4-adelyn).
I just don't even know how to put into words how grateful we are for all of you. We are touched that so many people care about Adelyn. We believe your prayers are truly making miracles happen. We love our tribe deeply.
Our strong little girl is ready to take on whatever comes next!
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