I've linked to this blog before, but I happen to think that a recent entry on this page deserves some linky goodness as well. It comes to us from stark.raving.mad.mommy, who has several children with special needs.
I've heard a lot of parents talk about the challenges of the school meeting. The blog authoress has provided a few useful tips for a successful school meeting. Enjoy!
Tuesday, October 19, 2010
Monday, October 18, 2010
In the Name of Love
As I posted a couple of weeks ago, I just recently had my first baby. He was born at 38 weeks, a healthy 7 pounds, 12 ounces. According to his discharge papers, the pregnancy and delivery were “uneventful”. Even as I read that now, I have to giggle a little. Uneventful? Really? Is that what you call 9 months of discomfort, stretch marks, and worry, followed by 24 hours of intense pain, ending with the arrival of a totally helpless little baby who depends on you to meet his every need? To me, that seems pretty eventful.
Even though the pregnancy and delivery were uneventful, we did have one small “event” at his first pediatrician’s appointment. He was diagnosed with jaundice. His bilirubin levels were significantly elevated, but not enough to warrant intervention. At his 8 week appointment, he still looked a little yellow, but his bilirubin levels were only mildly elevated. Nothing to worry about. At least, that’s what the pediatrician says. As his mother, though, I’m holding him up in every different kind of light, staring at the whites of his eyes, asking, “Does he look yellower to you? Is that a sunbeam? Please excuse me while I go set my baby down in it!” My cat is starting to get jealous because the baby is stealing all of his sunbeams!
This has all gotten me thinking…If my experiences with pregnancy and delivery were uneventful, what would an EVENTFUL one be like? If I’m worrying this much over jaundice, a relatively common issue in newborns, what would it be like to have an UNCOMMON issue identified in my son?
Over the course of my ten years in the field of genetic counseling, I’ve taken hundreds of pregnancy and medical histories. So many of the families I’ve met have experienced those “eventful” pregnancies and those “uncommon” medical issues. They were seen in the high risk pregnancy clinics, and their children see specialists and therapists in addition to their pediatrician. Of course, I always knew that these families face unique and difficult challenges. I’m starting to realize, however, that I didn’t fully understand or appreciate the stories that these families share with me. Let me explain.
Parents of children with special needs are forces to be reckoned with. They advocate tirelessly for their children. They fight for better services in the school system. They seek out second (or third or fourth) opinions on how to best care for their child. They become the experts, teaching their child’s providers about their child’s condition. They reach out to other families in similar positions, searching for new ideas and support. Before I was a parent, I wondered at the depths of parental love. The lengths that parents would go to on behalf of their child astonished me. Now that I’m a parent, I understand the words “love” and “devotion” so much better. I cannot think of anything I would not do for this little guy, if/when the need arises. I would step in front of a bus for him without a second thought.
With this deeper understanding, though, comes an even greater awe of the families of children with special needs. In the moment it takes a doctor to utter a diagnosis, reality shifts for those parents. Suddenly, challenges such as sleeping through the night and potty training become secondary to more pressing concerns. “Will my child need surgery? Where can I get an apnea monitor? How can I get more therapy? Will our insurance cover this? Am I making the right decisions for him? Is there anyone else out there dealing with this?” Those dilemmas make routine parenting issues seem minor.
As a new mom, I’m sometimes overwhelmed by my new responsibilities. Feeding, changing, bathing, and soothing the baby alone seems to be a full-time job. And then there’s the household chores, the errands, the part-time job, and the occasional social outing. As I put the baby to bed, I always ask myself the same question, “Where did today go, and why couldn’t I get everything done?”
Parents of special needs children have all of those “typical” things on their plate, but they also have to make and keep all their doctor and therapy appointments, deal with insurance companies, attend IEP meetings, do research on their child’s condition, and more. And some parents go even further, and start raising funds for research, volunteering to organize events, keep blogs, etc. and so forth. Amazing. I’m not sure how they do it, but they do, and I am in awe of them.
So, in summary, having a baby of my own has given me a deeper understanding and appreciation for the parents of children with special needs. They go above and beyond, and all in the name of love.
And, well, because I’m a proud momma, I can’t help posting two pictures of my little boy, who is teaching me new things every single day.
Collaboration with the Trisomy 18 Foundation
Last week, Victoria Miller with the Trisomy 18 Foundation has been visiting the Registry and the Research Center for a couple of days. We have been looking at ways the Registry & the Foundation might work together to increase efficiencies and improve programs. We also had lengthy planning meetings to discuss potential Trisomy 18 research projects that could take advantage of the existing professional staff and expertise available at the Research Center. Stay tuned for future developments!
Monday, October 4, 2010
The Clock Might Be Ticking...
The following was written by the president of the Registry and director of the Chromosome 18 Clinical Research Center, Dr. Jannine Cody:
The Clock Might Be Ticking, but There Is Still Time
I often hear parents of older affected individuals say that they are working hard for the Registry to help those children yet to be born with chromosome 18 abnormalities. They don’t think there will be any research insights or treatments that will help their own children who are young adults. I admit to being the eternal optimist; if I were not, I would not be doing this. That being said, I really would not paint such a fait accompli picture. In the last decade, we have learned that the brain is more similar to the rest of the body than we thought. It was once thought that the brain never added new cells and that brain cells died without being replaced. Now we know that the brain, like the other organs of the body, is undergoing constant remodeling. Since this is such a new finding, we know very little about the factors that influence this remodeling. Still, some interesting things are beginning to emerge that might just give us some hope, where there was none before.
For example, scientists have created a mouse with the same genetic mutation that causes neurofibromatosis (NF). These mice have been found to have problems with attention, problem solving, and visuospatial skills. These are the same sorts of behavioral problems that many people with NF have. Studies have shown which chemical processes are different in this mouse’s brain. This new knowledge and understanding of the altered chemistry provided scientists with ideas about possible treatments. Studies showed that these treatments worked to improve the behavioral problems in adult mice with the NF mutation. However, the treatment did not affect normal mice. This indicates that the treatment is indeed specific for the neurofibromatosis-like defect (Costa et al., 2002; Li et al., 2005).
Similarly, scientists have created a mouse model that has many of the same genetic changes as people with Down syndrome. These adult mice experience behavioral and cognitive improvement when treated with a drug that specifically normalizes the abnormal chemistry in the brain. Again, the same treatment did not improve or change the behavior of the normal mice. This suggests that this treatment is specific to the chemical processes affected by Down syndrome (Fernandez et al., 2007; Rueda et al., 2008)
These are just two examples of genetic conditions that have shown behavioral or cognitive improvement in adult mice following treatment. Other examples are Rubenstein-Taybi syndrome, tuberous sclerosis, Lhermitte-Duclos disease, Cowden syndrome, Fragile X syndrome, Angelman syndrome, and Rett syndrome (Ehninger et al., 2008). These findings have created a radical shift in thinking about the ability of the adult brain to remodel. In turn, this suggests that we can treat adults with developmental disabilities.
We are far from knowing exactly which genes on chromosome 18 cause the majority of developmental disability. We are even further from having targeted treatments. However, have no doubts about it; this is the path we are on. There is still time to make a difference.
References
Costa RM, Federov NB, Kogan JH, Murphy GG, Stern J, Ohno M, Kucherlapati R, Jacks T, Silva AJ. 2002 Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 415:526-530.
Ehninger D, Weidong L, Fox K, Stryker MP, Silva AJ. 2008 Reversing Neurodevelopmental Disorders in Adults. Neuron 60:950-960.
Fernandez F, Morishita W, Zuniga E, Nguyen J, Blank M, Malenka RC, Garner CC. 2007 Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat Neurosci. 10:411-413.
Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, Cannon TD, Silva AJ. 2005 The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol 15:1961-1967.
Ruenda N, Florez J, Martinez-Cue C. 2008 Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in Ts65Dn mice, a model for Down syndrome. Neurosci Lett. 433:22-27.
The Clock Might Be Ticking, but There Is Still Time
I often hear parents of older affected individuals say that they are working hard for the Registry to help those children yet to be born with chromosome 18 abnormalities. They don’t think there will be any research insights or treatments that will help their own children who are young adults. I admit to being the eternal optimist; if I were not, I would not be doing this. That being said, I really would not paint such a fait accompli picture. In the last decade, we have learned that the brain is more similar to the rest of the body than we thought. It was once thought that the brain never added new cells and that brain cells died without being replaced. Now we know that the brain, like the other organs of the body, is undergoing constant remodeling. Since this is such a new finding, we know very little about the factors that influence this remodeling. Still, some interesting things are beginning to emerge that might just give us some hope, where there was none before.
For example, scientists have created a mouse with the same genetic mutation that causes neurofibromatosis (NF). These mice have been found to have problems with attention, problem solving, and visuospatial skills. These are the same sorts of behavioral problems that many people with NF have. Studies have shown which chemical processes are different in this mouse’s brain. This new knowledge and understanding of the altered chemistry provided scientists with ideas about possible treatments. Studies showed that these treatments worked to improve the behavioral problems in adult mice with the NF mutation. However, the treatment did not affect normal mice. This indicates that the treatment is indeed specific for the neurofibromatosis-like defect (Costa et al., 2002; Li et al., 2005).
Similarly, scientists have created a mouse model that has many of the same genetic changes as people with Down syndrome. These adult mice experience behavioral and cognitive improvement when treated with a drug that specifically normalizes the abnormal chemistry in the brain. Again, the same treatment did not improve or change the behavior of the normal mice. This suggests that this treatment is specific to the chemical processes affected by Down syndrome (Fernandez et al., 2007; Rueda et al., 2008)
These are just two examples of genetic conditions that have shown behavioral or cognitive improvement in adult mice following treatment. Other examples are Rubenstein-Taybi syndrome, tuberous sclerosis, Lhermitte-Duclos disease, Cowden syndrome, Fragile X syndrome, Angelman syndrome, and Rett syndrome (Ehninger et al., 2008). These findings have created a radical shift in thinking about the ability of the adult brain to remodel. In turn, this suggests that we can treat adults with developmental disabilities.
We are far from knowing exactly which genes on chromosome 18 cause the majority of developmental disability. We are even further from having targeted treatments. However, have no doubts about it; this is the path we are on. There is still time to make a difference.
References
Costa RM, Federov NB, Kogan JH, Murphy GG, Stern J, Ohno M, Kucherlapati R, Jacks T, Silva AJ. 2002 Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 415:526-530.
Ehninger D, Weidong L, Fox K, Stryker MP, Silva AJ. 2008 Reversing Neurodevelopmental Disorders in Adults. Neuron 60:950-960.
Fernandez F, Morishita W, Zuniga E, Nguyen J, Blank M, Malenka RC, Garner CC. 2007 Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nat Neurosci. 10:411-413.
Li W, Cui Y, Kushner SA, Brown RA, Jentsch JD, Frankland PW, Cannon TD, Silva AJ. 2005 The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol 15:1961-1967.
Ruenda N, Florez J, Martinez-Cue C. 2008 Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in Ts65Dn mice, a model for Down syndrome. Neurosci Lett. 433:22-27.
All Quiet on the Chromosome 18 Blog!
Well, it has been quite a long stretch since I last posted on this blog. However, there has been a good reason! The blogstress (myself) had a baby in mid-August! I've been on maternity leave since then. I'm scheduled to get back to business next week, however, and hope to begin posting regularly at that time. Thank you for your patience!!
In the meantime, though, Dr. Jannine Cody had written a guest post that I will post here next!
In the meantime, though, Dr. Jannine Cody had written a guest post that I will post here next!
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