Trisomy 21 - Down Syndrome

When I started this series on the various trisomy genetic disorders, I knew this day would come. How does one even attempt to summarize Down Syndrome in a short blog post? I'll start with the disclaimer that none of my primers are intended to be all-inclusive. They're just a starting point to begin to familiarize the public at large with conditions that sometimes are quite rare and unknown. Down Syndrome doesn't really fit the unknown category, but it may fit the misunderstood category. People may think they know what Down Syndrome is, but have some serious misconceptions mixed in with their facts. My hope is this primer will make you want to learn more. Down Syndrome doesn't really fit the rare category either. Trisomy 21 is the most common single cause of birth defects, and occurs in approximately 5 of every 10,000 births. The condition is named for John Langdon Down, who described the condition in 1866. Dr. Jerome Lejeune linked Down Syndrome with an extra copy of Chromosome 21 in 1959.

Like all trisomy disorders, Down Syndrome occurs when there are three copies of one chromosome (Chromosome 21 in this case) or part of a chromosome. You can look at my general post on Trisomy to learn how this happens. It is an entirely random genetic mutation that cannot be prevented. Genetic counseling is advisable for people who have a family history of Down Syndrome, women above the age of 35, or parents who already have a child with Down Syndrome. Trisomy 21 can be diagnosed prenatally. Screening tests may indicate a higher risk for Down Syndrome and more conclusive diagnostic tests such as amniocentesis can confirm the diagnosis. These tests may carry risks of their own which should be considered carefully.

Each individual with Down Syndrome will be affected differently, but there are several common characteristics, including:

• decreased muscle tone
• single crease in palm of the hand
• cognitive delays
• impulsive behavior
• short attention span
• heart defects - atrial septal defect or ventricular septal defect
• eye problems - cataracts, corrective lenses
• gastrointestinal blockage - esophageal or duodenal atresia
• hearing problems
• narrow airway - sleep apnea

With improved medical treatment options, the average lifespan for individuals with Down Syndrome is nearly the same as normative peers. With early intervention and supportive family, individuals with Down Syndrome can graduate from high school, attend college, and maintain productive careers. Finally, I think I've shared this before, but I want to emphasize that each individual has something to contribute to society, and we have more in common than we may think. Please watch this short video by a young man with Down Syndrome and his parents. It is well worth your time.


Additional resources:

• PubMed Health - clinical description
• National Down Syndrome Society - especially this page
• National Down Syndrome Congress
• DownSyndrome.com
• Praying for Parker - especially this post

Trisomy 18

I'm continuing my series on Trisomy disorders. You can read the overview post here. Briefly, trisomy occurs when at conception an extra copy of one chromosome is transferred from the parents to their offspring. There are also forms of mosaic trisomy which occur during cell division, resulting in some cells having an extra chromosome and some not. Our chromosomes usually occur as pairs and are numbered from the largest chromosome (with the most genetic material) to the smallest, and Trisomy 18 refers to an extra copy of chromosome 18. Trisomy 18 has been in the news a bit more often recently because the former Republican Presidential Candidate Rick Santorum's daughter, Bella, has this disorder. She is three years old.

Trisomy 18 (also known as Edwards Syndrome) is the second most common form of trisomy, and occurs in 1 in every 3,000 live births. Because of the physical complications associated with Trisomy 18, many affected babies die before or shortly after birth.Affected males have a higher mortality rate than females. Most children (90%) die before the age of two months. However, some (mostly females) can live into their twenties and beyond, though they require assistance with daily living.

Trisomy 18 can be diagnosed prenatally. There are two levels of testing. The AFP or triple screen is a blood test that indicates statistical risk of Trisomy 18 (or other disorders) being present in a developing baby. This is not a specific diagnosis, but a "screening" test that may suggest further tests are advisable. Only about 11% of those with a "high risk" AFP result will go on to a confirmed diagnosis. Ultrasound is another method for screening. It may indicate physical differences in the baby, but the cause of those differences would be indeterminate. CVS (samples the structures that connect the pregnancy sac to the uterus) and amniocentesis (samples the amniotic fluid surrounding the developing baby) examine genetic material and give a more definitive diagnosis. There is a risk of miscarriage from these procedures. Following pre-natal diagnosis it's important to discuss the results with a genetic counselor who can explain what the results mean. I think it's also important to find resources and parents who have already lived with this disorder and know what you may be feeling and experiencing.

Each individual with Trisomy 18 may have a different combination of medical and developmental challenges. As with other forms of trisomy, in addition to the full Edwards Syndrome there is Partial Trisomy 18 (where only a portion of the chromosome has an extra copy) and Mosaic Trisomy 18 (where not all of the cells contain the extra copy) but these forms are less common, and each has similar potential challenges, including:

• Heart defects - a hole between the upper or lower chambers, or narrow aorta.
• Kidney problems
• A portion of the intestinal tract may be outside the stomach
• The esophagus may not connect to the stomach
• Clenched hands
• Pocket of fluid on the brain
• Rocker bottom feet
• Delayed growth
• Severe developmental delays
• Umbilical or inguinal hernia

Some of these medical challenges can be corrected with surgery, others may cause long-term issues such as congestive heart failure, and susceptibility to pneumonia.


For more information:
     Visit Susan's blog (buddzoo.com, where she shares her story of caring for her 3 year old daughter who has Trisomy 18. Susan also moderates a facebook group for families of Trisomy 18. (see comments below)
     Visit the Trisomy 18 Foundation here.
      Read stories from parents and family here.

Sunday Digest 43

Time to share the best of the things I've found while floating through cyber-space the last few weeks. I hope you'll visit and enjoy the links below and let them know you found them through The Simple Life:

1) One of my best new finds is Just a Lil Blog by Jim. It is great to get a dad's perspective on special needs parenting. His post People, Not Data really resonated with me and added to what was already brewing when I decided to write my own post "Making it Good" over at 5 Minutes for Special Needs.

2) Varda at The Squashed Bologna always has something to speak to me - several recent posts nailed me actually - but this one, which was a rerun from Hopeful Parents is one of my favorites. We need to start planning for the future of all of these young people now identified with autism or related disorders. The world is going to have to change big time!

3) I LOVED this take on Trisomy 21 by Tammy at Praying for Parker. So many of these "disorders" are naturally occurring conditions that, while challenging, have always been a part of the human condition.When will we accept this?

4) And, while we're on the subject of Down Syndrome, please listen to the testimony of this young man who reminds us that even though we're all different, we're all the same. We all need God. Hear how God used him to reach out to special needs children and their parents and teachers.

5) No matter what you're facing this week, it's good to remember that we each meet the future at the rate of 60 minutes per hour. Some things (the tedium of laundry and dishes) we wish could go by faster, but others, like the wonder of a child exploring the world around them we should stop and enjoy a little more. Tsh Oxenreider shared these thoughts at (In)Courage.

Trisomy 13 - Patau Syndrome

I'm continuing my look at Trisomy disorders by profiling Patau Syndrome, Trisomy 13. Though discovered in 1657, the genetic cause was determined by Dr. Klaus Patau in 1960. As with all instances of trisomy, Patau Syndrome occurs when three copies of chromosome 13 are in some or all of an individual's cells. There are three forms of Trisomy 13:

1. Partial trisomy involves the presence of part of an extra copy of chromosome 13 in the cells.
2. Trisomy 13 mosaicism occurs when some of the cells have an extra chromosome 13.
3. Trisomy 13 has a full extra copy of chromosome 13 in all of the cells.

In some rare cases the extra genetic material may translocate and attach to a different chromosome. Trisomy 13 is fairly uncommon, occurring in approximately 1 in 10,000-21,700 newborns. Due to the severity of genetic damage (remember the lower the number of the chromosome the more genetic information it contains) the condition sometimes results in miscarriage or stillbirth (around 8% of prenatal diagnoses). Further, 80% of babies born with Trisomy 13 will not survive beyond their first year. However, those who do survive birth and early infancy can live to adulthood. Children with partial or mosaic Patau have an even more hopeful outlook. Therefore it saddens me to know that up to 64% of babies diagnosed prenatally with Trisomy 13 are eliminated by elective abortion.

Each child with Trisomy 13 will have different needs depending on what symptoms are evident. Some common issues include:

• Cleft lip or palate
• Close set eyes - may even fuse into one structure
• Extra fingers or toes
• Seizures
• Limb abnormalities
• Small head
• Small lower jaw
• Congenital heart defects - placement toward right side of chest, septal or ductal defects
• Holoprosencephaly - the forebrain doesn't divide properly

Often these physical challenges are detected first by ultrasound. MRI or CT scans may also be used. Chromosome studies are used to specify the type (Patau) and sub-type (partial, mosaic, or full) of Trisomy.

Caring for an infant with Trisomy 13 often involves addressing breathing issues like apnea, feeding problems, heart failure, seizures, and challenges with seeing and hearing. It is essential for families to find support as they walk through caring for a child with Trisomy 13. One well-known organization to contact is SOFT. Another is Hope for Trisomy 13 and 18.

How fitting that March is Trisomy Awareness month!

Sunday Digest 41

I think I'm slowly getting back into the swing of posting more frequently here (and keeping up at 5 Minutes, too...) Part of that is keeping up with following a lot of other blogs to keep the inspiration flowing. Here are some of the links I've come across in my perusing...

1) I wrote a post on Trisomy 9  about a month ago, and had the privilege of having a Trisomy 9 Mom stop by and comment on it. Turns out that Erin has her own blog where she writes about all the challenges they face. Here is a link to the story of her son's diagnosis, be sure to check out other posts, too.

2) OH...how I relate to Autism & Oughtisms post about the endless questions of childhood. Oh yes, we've been there, and still go there every once in a while. I've even blogged about it. "Why don't you crash into the car in front of you, Mommy?" was the child's favorite question for about three months and every time we were driving in the mini-van she would ask. Sadly we saw a bad car accident on the side of the road one day on the way home, and when I told her that's what happens when you crash, the question turned into "What happens to the car after it's crashed?" and I answered that one every time we saw a tow truck hauling a smashed up vehicle. Now I am asked to recall the finest details of my own childhood...and "I don't remember" is not a satisfactory answer. And yet, when I consider how hard she has worked to get her language to the level of asking questions...I swallow my impatience and try hard to answer in a way that will keep the conversation going.

3) Another been there, done that, moment from Bird on the Street - who has an older child with special needs, and twins (just like me)...but she's pregnant with baby number four, and we're not going there...hat's off to you, Katy! Anyway Katy tells the story of taking her three children to the pediatrician. Those of you without kids are thinking "What's hard about that?" and those with children are thinking "What was she thinking?" I actually do this all the time because I prefer the short term chaos to having three separate appointments where I have to find child care for one or two other children; but it ain't fun...let me tell you. Or let Katy tell you...

4) Had to check in with Praying for Parker. All of Tammy's posts teach me a lot. This one was especially touching to see Parker enjoying his favorite books with his Grandma and see the special bond they have. Sweet.

5) We are big Signing Time fans around here, although I need to expand our library of DVDs. We have used simple signs to help enforce rules, in particular, around our house. It helps me stay calm, for some reason, and it helps the kids pay a little extra attention. Rachel has been posting about a trip to Ghana where she helped a school for deaf children learn to use sign language in their curriculum. Reading these stories is a great reminder to count our blessings, and also to reach out to bless others...and also to keep exploring sign language with my kids.

That's it for this round...I hope you enjoy the links as much as I did. Please tell them you heard about them through The Simple Life.

Sunday Digest 37

So much to share with you this time around that it may not all fit into one digest. There has been a lot of amazing stuff on my favorite blogs to visit lately...

1) My fellow 5 Minutes for Special Needs contributor, Suzanne, shared her inward (at least) response to a person who left an anonymous note on her car window. I hope the person read it, somehow. Just another reminder that not every disability is visible, even the physical ones. Let us be kind to one another, please.

2) My "down under" blogging friend Autism &Oughtisms shared a touching post about her autistic son and his imaginary friend. In addition to exploring various theories of imaginary friends, she explains how she views this as a positive step in her son's development. I distinctly remember my own joy when my daughter at more than four years old pretended to use an invisible object in her play for the first time. I was ecstatic and nearly burst into tears.

3) Tammy over at Praying for Parker expressed one of my darkest fears. Statistics estimate that 90% of unborn babies diagnosed with Down Syndrome are aborted. Tammy points out that some view this as a way of preventing Down Syndrome. What happens when we can test for autism prenatally? I have no doubt there are people working toward this. I can't quote statistics, but my general sense is that the average joe (or jane) has a more positive view of Down Syndrome than they do of autism. Interestingly, both disorders can have a whole range of effects on the developing child, so termination ends a life that isn't fully understood. I think I am particularly sensitive to this topic right now because an acquaintance of mine is expecting the birth of her third child in the next few weeks. According to some prenatal screening her unborn son has a higher than normal risk of Down Syndrome. She already has one child with special needs...and has gathered a whole pack of people around her to pray, not necessarily that the test will be wrong, but that their family will be able to celebrate the birth of their son no matter what the future holds.

4) I continue to enjoy the Special Needs Siblings Saturday posts at The Squashed Bologna. Mid-October, Varda's guest blogger was Michaela Seafoorce. I ready her SNSS post, but also followed Varda's advice and read two of her posts on her own blog here and here. I have been thinking a lot lately about peer advocates and how to find them, how to teach them, what to say. Michaela is just one example I've looked at. More on this in the weeks to come as I get my thoughts together...

5) I am kind of shaking my head these days in disbelief that I'm the mom of a second grader. It's all going by so fast. Laura Shumaker's post at City Brights about the transition to adulthood was a wake up call...time will continue to fly by and one day the child will be the adult. What then? The only thing I can do at this point is to continue to try to build in the skills and support that she will need when we get there a dozen years or so from now.

I hope you will enjoy all the links as much as I did, and if you visit do let them know you found them through The Simple Life.

Sunday Digest 33

Hard to believe it is time for another Sunday Digest already. To be honest I am more than a bit behind on my blog reading...just like everything else. Summer hits and I get busy with the kids and trying to keep up with the dishes and laundry (failing at that, too) many other things get put aside for "later". Here are a few things I've stumbled across that I want to share with you, though...

1) Shortly after my own foray into the "R-word" battle, Autism and Oughtisms posted this lovely piece. I think you will find it quite enlightening.

2) How many times have I wished for someone to help me find resources, set goals, meet milestones? We were quite blessed a couple of years ago to be met in our hour of greatest need by a couple of "experts" who were willing to help us define and achieve some basic behavioral goals for our daughter. Their input made all the difference for us. I certainly wouldn't be writing this blog without them. Autism Speaks published a guest post from an organization trying to get a "life coach" program started for families in need. Here is more info.

3) We had fun last week making our own tote bags following the directions here. I made three bags (one for each kid) from some canvas left over from another project and some cotton webbing I bought last Summer (see how far behind I am??). The sewing took about 2 hours for each bag (I am slow) but it was all really simple - straight lines, you can't go wrong! We decorated ours with fabric paint/marker and some old buttons I found. I will try to post some pics in the art gallery soon. I'm encouraging the kids to use them on our weekly trips to the library this Summer. They love them!

4) Hopefully this week my daughter and I will begin writing a story about how everyone is different. This will be step one in beginning to explain her own challenges to her I hope in a very positive way. On that topic, this post by Resident Alien caught my eye.

That's it for this time around friends...feel free to share your favorite links or fun Summer things to do in the comments below. Enjoy!

Movie Review - Loving Lamposts

First, my apologies for disappearing for a week. Last week was supposed to be my "light" blogging schedule, but not quite THAT light. We had an urgent accounting project dropped on us, which basically left me thankful that our family has our own issues and not another person's. Maybe God really does give us just what we can handle.

Meanwhile, I'm resurfacing just in time to hit the review post with a documentary called Loving Lampposts - Living Autistic by Todd Drezner. The title refers to Drezner's son's obsession with lampposts. There is a park near their home with old-fashioned looking lampposts and the little boy has named four of  them and likes to visit them often to give them hugs and whisper sweet endearments. This is a charming characteristic most likely springing from his autism spectrum disorder. His father set about making this film in an effort to cut through many of the controversies surrounding autism, revealing the double meaning of the title. You can imagine the unfolding story as one family's journey, lit by each discovery as they seek to understand and love their son. The film ends up being a thumbnail sketch of the history of this challenging disorder, interspersed with some of the key players and their influence on society's awareness and understanding of autism.

Thirty years ago only 1 in 2,500 children was diagnosed as autistic, today as many as 1 in 110 bear that diagnosis, worldwide. Is this an epidemic? Drezner interviews parents of adult individuals with autism who grew up in the 1950s, back in the day when children with autism were usually diagnosed with schizophrenia. He talks to adults with autism who grew up in the era when autism was equated with being non-verbal, so verbal children with other symptoms of autism were labeled psychotic or neurotic. He talks to medical doctors who take the view that autism is a medical condition related to environmental toxins, and to parents who have used non-traditional biomedical treatments (like chelation, hyperbaric oxygen, and pro-biotics) to "recover" their children. The vaccine debate is aired. The secretin scandal exposed. The question of "functional grades" is considered. I think the only controversy not discussed is whether a person "is autistic" or "has autism."

Though respectful and even handed, the film makes it clear that Drezner does not fall into the camp of people who consider autism to be a disease. Obviously there is some biophysical/biochemical/neurological difference in the brain affected by autism, but Drezner argues that it should not be placed in the same category as cancer, for example, or diabetes, where a physical problem must be made right in order for a person to live and thrive. He comes down squarely against the notion that vaccines have any causal relationship to autism. He is empathetic toward parents who seek out alternative therapies as a means of "doing something" for their children, but in the end his own view that autism is a disorder that must be accepted and understood as a "different way of viewing the world" rings out.

I have previously published my own research into the "recovery movement" and still want to be clear that our personal story does not line up with the medical issues that some other parents of children with autism face. Our daughter has never experienced seizures or severe gastro-intestinal distress (unless she has the flu). She has no known food sensitivities and seems to have been on a slower developmental trajectory since birth or at least very early newborn days. Still it is hard to discount another parent's story, and I still wonder if we all aren't describing two (or even more) disorders with similar symptoms but different underlying causes. The old analogy of blind men describing various pieces of an elephant to each other and arguing about what an elephant is like comes to mind. In this case perhaps each blind man thinks they're describing the same animal, but perhaps instead one is feeling a kangaroo while another is feeling a wallaby. Some pieces are the same, but in the end they are a different beast.

My favorite portions of Loving Lampposts are when we see and hear from various adults with autism. There is an older man who makes beautiful pottery to support himself in an apartment where various individuals assist him in daily tasks and routines. One woman particularly affected me because she prefers to speak through her computer, though at one point in the film she does speak with difficulty. Her computer lets her intellect shine through as she composes quite cogent responses to fairly philosophical questions. Perhaps my favorite is the woman who decided to keep a pet refrigerator. I feel I have a lot to learn from these adults who are able to express what they have learned about themselves and about autism along the way. I know it helps me understand better how my daughter sees the world around her.

This is a compelling film. I did not expect my husband to view it with me, but after standing through several promos of other films marketed by the same studio he eventually sat and watched the entire film. It opened some lines of discussion for us that we had never voiced before. I would recommend that anyone who wants to understand more of the history and controversy swirling around this increasingly common disorder should watch this movie, and soon. Loving Lampposts has been making the circuits of independent film festivals and will be released on DVD on March 29, 2011, just in time for National Autism Awareness Month (April).

Disclaimer: Cinema Libre Studio sent me a promotional copy of Loving Lampposts for review. I received no other compensation, except opened eyes and a warmed heart.

Book Review - Special People Special Ways

 We are beginning the adventure of explaining to our daughter what her challenges are, where they come from, and how she can use her strengths to overcome them. It's an adventure that we knew would come one day, and one that we have started as some of her peers have started to notice and comment on her differences. We want her to be able to explain it to others and hopefully become her own best advocate. Eventually her siblings will need to understand why their Sissy is different, too. I've been looking around for resources and came across this book one day at our local library. We have been advised by trusted resources that the first step of the journey is to begin to recognize and comment on "differences" in people in everything from hair color to physical abilities. Each day I try to point out one way that people are different from each other. One day it was how people get to school. We want to make "differences" be normal. This book coincided nicely with that goal.

Special People Special Ways is written in rhyme, which makes it a catchy read for language learners. Every page has sweet illustrations of children with different abilities and ethnic backgrounds. Of course in the illustrations as in the real world the most obvious "differences" are physical - a wheelchair, a white cane, a guide dog (or monkey!), or crutches. Still the text addresses children with communication challenges, learning challenges, and more subtle differences. The overall message of the book is that each child is unique, each child is valuable, and each child needs help in different ways. Everyone is important and loved. We read the book with all of our children and enjoyed interacting with them around these characters. It is targeted toward a young audience, I would say ages 4-7. It does not address any deeper questions about the various challenges these children face.

I think this is a beautiful introduction to the diverse needs of people all around us. I was sad to have to return it to the library and will probably seek it out again as we approach the next phase of the adventure. Stay tuned.

Sunday Digest 27

It's been a while since I've written a digest. Between taking some time off over New Year's and rearranging my writing schedule a bit it just hasn't fallen into the rotation, but here we are...the first Sunday Digest of 2011. Given the gap I should have plenty of material to choose from.

1) I wanted to start off with a moving video posted by our new friend, Justin Buzzard. We met Justin because he has spoken several times at our church while we are seeking a new pastor. Justin is an excellent preacher, and is starting a church in the San Jose area...in case you're looking. He is also the uncle of Brody, who is affected by autism. Brody's parents took some photos of him at a recent beach outing and overlaid "10 Things Every Child with Autism Wants You to Know..." If you've been looking for a good way to pass this information on to someone, well here it is.

2) Here the inimitable Varda explains why we need to keep telling people how to understand and help our children reach their full potential, regardless of what their challenges and needs might be. It wasn't that long ago that children with special needs were sent off to institutions without question, or worse.

3) Ever have one of those moments when your temper gets the best of you and you can't seem to get a grip on your anger? Please don't tell me I'm the only one...My fellow 5 Minutes for Special Needs contributor, Laurie, shared some of the secrets she's learned over the years to get a grip on her anger. Fake swearing...love it!

4) I've been attending some IEP meetings with a friend. Perhaps that's one reason this piece, sort of retrospectively viewing the IEP track of education over the long haul jumped out at me. The analogy at the end is powerful.

5) Last but not least, we've been encountering lots of situations lately where I wish I knew better how to support my daughter's social skills. Hartley shared some of the things she's learned here. I definitely need to try a couple of these to see if they will help in our scenarios.

CHARGE...

...is another name/acronym that I've been seeing around the Special Needs on-line world and knew very little about before starting to research this post. It is a complicated syndrome that affects one of every 9-10,000 births worldwide. CHARGE stands for:

Coloboma of the eye (see below)
Heart defects
Atresia of the choanae (see below)
Retardation of growth and/or development
Genital and/or urinary abnormalities
Ear abnormalities and deafness

This name was developed in the early 1980s when medical professionals began to recognize a group of individuals who all shared a similar array of medical and developmental issues. The acronym summarizes the issues and although some changes have occurred in diagnostic practices, the name stuck. CHARGE is based on characteristics that are common in CHARGE but rare in other conditions, and minor characteristics that are present in other conditions, are more objective or occur later in life. For example:

Coloboma of the eye (malformation, like a cleft, of one of the parts of the eye) occurs in 80-90% of CHARGE individuals, and isn't generally associated with other medical conditions. It can also be observed early in life. Coloboma is considered a major feature of CHARGE.

Heart defects occur often in CHARGE (75%) and are often complex, but may be caused by other medical conditions and are therefore considered a minor feature.

Atresia of the choanae - The choanae are the passages that lead from the back of one's nose to the throat. In CHARGE these are often blocked or closed (atresia) by a membrane or bony obstruction. This occurs in 50-60% of CHARGE individuals and is also considered a major feature.

etc...

In the end no one characteristic is considered definitive for CHARGE, and an individual affected by CHARGE may not have several characteristics that another individual with CHARGE may have. Similar to autism each individual becomes their own unique blend of medical and developmental issues.

Great strides have been made toward understanding the genetic causes of CHARGE. Mutations in one gene, CHD7, have been linked with CHARGE. CHD7 encodes a regulatory gene that turns other genes on and off. Mutations to this gene are evident in 2/3 of individuals with CHARGE, but the testing is expensive and has many false negatives, so further research is needed before genetic testing can supplant clinical diagnosis.

Often individuals with CHARGE have both vision and hearing loss ("deafblind") and since these input channels are primarily used in educational settings, learning can be a major challenge. In this respect CHARGE reminds me of one of my biggest heroes, Helen Keller. Although Ms. Keller's deafblind-ness had a different cause, the fact that she overcame these obstacles and became one of our country's most admired writers, speakers, and humanitarians. I recall shortly after confirming our daughter's speech delay I read Ms. Keller's autobiography and was greatly encouraged to never give up in seeking ways to communicate with her. Individuals with CHARGE have many challenges, but in the end we must respect their tenacity to overcome and provide the support and acceptance they deserve.

For more info on CHARGE, see The CHARGE Syndrome Foundation

Sunday Digest 22

My list of blogs that I follow has been slowly expanding and is now over 20 in number. I follow some general parenting blogs, some special needs parenting blogs, and a few blogs specific to autism. I barely can keep up with these, and most of them don't post every day. There is just an amazing amount of "stuff" out there on the internet just waiting for us to find it...amazing. This is just the cream of the crop I've sampled over the last three (or so) weeks...There is pretty much of a back to school theme here...wonder what's been on my mind!

1) This first entry is a little older than three weeks, actually. I don't think I had space to post it last time. This is a blog entry written by KatyB who blogs at Bird on the Street, and contributed this piece to 5 Minutes for Special Needs. I think as the back to school season has ramped up I've been reading a lot from special needs parents who are wondering if they've done enough over the Summer, or wondering how they will do it all in the season to come, trudging along on the treadmill and questioning their ability to keep up. Katy reminds us that It's Enough.

2) Our Journey Thru Autism is kind of a newcomer to my list. I really enjoyed this post by Chynna Laird about supporting children with sensory processing issues (which can be present in many different disorders) through transitions. Transitions are still our biggest sticking point, and most of the time I'm not even thinking of the issue as a transition when it really is. I particularly like Chynna's reference to a "plan". This is a term our daughter picked up in her Summer social skills group, and wow is it powerful...I'll probably post more on this later...

3) Hartley's Life with 3 Boys posted this prayer for back to school. Oh yeah, there really is still prayer in and for school.

4) My mom told me about an interview on NPR with a young woman who is autistic. From there I found Reports from a Resident Alien and this post, which says so much. A person's value is intrinsic, not tied to their ability to contribute blah-de-blah to society. People are important, they just are. Get over it.

5) Okay, so this one is about Sunday School, but... a lot of churches follow the school calendar in terms of moving students into different classes, reconsidering curriculum, etc. Our church has a pretty high per capita special needs contingent. I taught Sunday School this morning and two of the three kids in our class today have special needs. We currently use "homemade" curriculum, because we are small and flexible like that, but if your church is considering developing a special needs class or needs some special needs curriculum, SpecialGathering reviewed Special Buddies by LifeWay here. And yes, I have used special too many times in this paragraph...

Why we are Advocates

This is the last post in my series inspired by Lorenzo's Oil, the film that depicts one family's struggle with Adrenoleukodystrophy. ALD is a rare disorder affecting approximately 1 of every 42,000 male births. It is a devastating disease that without treatment usually progresses toward death in a few years. Among those with a pragmatic, cost-benefit analysis worldview, it might seem irrational to spend time, money and resources to study this disease or to seek anything beyond palliative treatment for those who are affected by it. In my opinion this is both callous and short-sighted. I think ALD is an excellent case study for why we advocate for anyone with special needs.

First, if you've read many of my posts you know that a big part of my perspective comes from a pro-life foundation. The great philosopher, Horton the Elephant, taught many of us as children that, "A person's a person no matter how small..." and it really is that simple for me. As long as there is life, we value, respect, and preserve the individual, no matter how small, ill, challenging or feeble. We find ways to support, educate, give comfort to, and encourage each person. Toward the end of the progression of Lorenzo Odone's struggle with ALD he was unable to breathe without assistance, he could not eat, he could not speak, and had only limited voluntary movements, but he struggled to stay alive, and he survived far beyond everyone's expectations. Some may ask, "What did he contribute to society?" and my answer is:

• Inspiration to continue the fight - How many people have seen this movie and gone on to face their own challenges, or the challenges of their loved ones with a new and stronger will to succeed. I know when we first learned our daughter's diagnosis I remembered Lorenzo's story, among others (like Helen Keller) of individuals with special needs that seemed almost insurmountable. Yet with the love, support, and advocacy of those around them they did overcome, in some tangible ways, and in some ways more spiritual and eternal. It gave me hope at a time that otherwise seemed very dark and bleak.
• Information about treatment options that did not exist before - Lorenzo's parents worked together with medical researchers to develop a treatment (Lorenzo's Oil) that was not available previously. They turned their desperate search for therapy into an option for early intervention in the course of the disease. My understanding is that this treatment is now in full clinical trials, but meanwhile many other young boys have seen some benefit from the Odone's quest.
• Instigation of new research efforts that will benefit others - The Odone family found that using Lorenzo's Oil arrested the degradation of Lorenzo's nervous system, but it could not undo the damage that was already done. The myelin coating around his nerves was already damaged and there is no known repair mechanism. Again, some would throw up their hands in despair, but the Odones determined to keep searching. They established the Myelin Project, whose sole objective is to search for treatments that repair and regenerate myelin. This is where the cost-benefit analysts may finally see the pay off. Myelin degradation is not unique to the disease of ALD. Some of the diseases we already know about include:

multiple sclerosis
idiopathic inflammatory demyelinating diseases)
transverse myelitis
Devic's disease
progressive multifocal leukoencephalopathy
Optic neuritis
other Leukodystrophies
Guillain-Barré syndrome
chronic inflammatory demyelinating polyneuropathy
anti-MAG peripheral neuropathy
Charcot-Marie-Tooth Disease
Vitamin B12 deficiency

In short, by studying the underlying causes and symptoms of one rare disorder we can learn information and treatment options about at least a dozen others.

So why do we advocate? Because it works!

Dealing with "Guilt"

As promised, I want to spend some time talking about "parent guilt." This is a big topic, and I'm not at all sure that I'll properly address it in one short post. The topic came up from watching Lorenzo's Oil a couple of weeks ago, which I reviewed last Wednesday. Briefly, it is the story of a family faced with a debilitating disorder affecting their youngest/only son (the father had children from a previous marriage). During part of the movie the parents are told that the disease is carried in the mother's genes (an X-linked mutation) and the mother's reaction is a textbook "guilt" response. She says something to the effect of, "You mean this is my fault?" and, for some period of time afterward, she cuts off contact with her family and pours all of her efforts into "fixing" her son.

Sometimes I am glad that autism has no "known" cause. There is evidently some genetic link and some environmental factor, and a piece of me dreads the day that it becomes better defined than that...particularly if it can clarify what exactly affected our own dear daughter. Genes are what they are...there is nothing that we can currently choose about what makes up our own DNA or which DNA gets passed along to our offspring; at least not until after the fact, and you can read how I feel about that here. Even environmental factors are hard to completely control. How many places do you see the signs that say "this area contains chemicals known to cause birth defects?" Do you keep your hand on the nozzle when you're pumping your gasoline? Is there lead in your pipes that you don't know about? It's a dangerous world. Somehow as a parent you want to shield your children from anything that can harm them and the knowledge that you might be in any way linked to something that brings trouble upon them is horrifying. I recall a day fairly early in our daughter's life when I was dutifully strapping her into her little infant seat and I inadvertently, sleep-deprivedly, somehow pinched her little tummy in the belt clip. I was so angry at myself I think I cried almost as many tears as she did. That little welt disappeared in just a few days. How will I respond if someday I learn it was my DNA or my former work as an organic chemist, or my...that leaves her struggling every day to interact with everyone around her in socially acceptable ways. I guess I decided I should start processing it all now...just in case.

Tuesday posts are about seeing what God says about these kinds of questions. Coincidentally (?) my pastor's daily scripture verse e-mail today said this:

John 9

1 As he went along, he saw a man blind from birth. 2 His disciples asked him, “Rabbi, who sinned, this man or his parents, that he was born blind?”
3 “Neither this man nor his parents sinned,” said Jesus, “but this happened so that the work of God might be displayed in his life. 4 As long as it is day, we must do the work of him who sent me. Night is coming, when no one can work. 5 While I am in the world, I am the light of the world.”
6 Having said this, he spit on the ground, made some mud with the saliva, and put it on the man's eyes. 7 “Go,” he told him, “wash in the Pool of Siloam” (this word means Sent). So the man went and washed, and came home seeing.

How might God's MIGHT be displayed in your life today?

I had actually been thinking about this exact passage in relation to parent "guilt" before I received this e-mail. I will probably need to study it more closely and may post more on the topic later. For now a few points are clear:

• In Jesus' time his culture defined differences as being the result of individual sin, rather than understanding at least some (and perhaps most) as being the consequence of original sin. We live in a fallen, and therefore dangerous, world.
• Challenges can be an opportunity for God to reveal Himself to us and to those around us.
• God is powerful and no matter what we are facing, He is bigger.
• God is full of grace and mercy.
• Spending time pointing fingers may keep us from experiencing God at work...night is coming.

So as long as it is day I will work and live in the Light.

This post is participating in the Moms' 30-Minute Blog Challenge.

Sunday Digest 18

Today I wanted to do something a little different for my Sunday Digest. It's an audio-visual theme...videos and/or songs that have been reaching me in the last few weeks...

1. I first saw this on Facebook where I am "friends" with Randy Alcorn...actually I guess I'm his fan on Facebook. Either way, pretty cool that I get a daily dose of wisdom from him. He posted a link to his blog for this video, which basically shares my heart on choosing life even for children expected to have special needs. We would have missed out on a lot if this mom had chosen otherwise.

2. I saw a link for this video on Twitter. I had to watch it twice it is so amazing. No audio, but wow, the visual...I'm not sure I could do this even with a good camera. Phenomenal. The accompanying blog post on humility explains the heart of an artist and a special needs parent.

3. The song that inspired this digest...We Fall Down...one of my favorite worship songs. I suppose by today's standards it is an old song. I remember learning it in my pre-marriage days...a decade ago! At the retreat I attended a few weeks ago the speaker encouraged us to spend more time worshipping aloud. This song came to mind the other day and I sang it out loud while my kids were playing nearby and I was working on the perpetual pile of dishes. Funny...often when I sing my oldest daughter asks me to stop (I'm not that bad, even) but when I sang this one she did not complain. Must remember to do this more often!

4. In honor of our veterans (Memorial Day just passed, and the anniversary of D-Day today) one of my daughter's favorite patriotic songs...Three Cheers for the Red, White, and Blue! We just attended our end of the year Kindergarten program, so this brings a chuckle for sure.

5. My theme song? As sung by a true lady and musical legend. Enjoy!

Angels Part Five - Decisions and Directions

This is the fifth of eight posts based on the Bible Study Guide "Angels" by Douglas Connelly, A LifeGuide Bible Study. Today's study discusses three Biblical examples of angels giving specific directions to godly men who obeyed and played an important role in God's plan. I must say I've never had the privilege of receiving specific instructions from an angel. This study makes it clear that any message we might receive from an angel should line up with the guidance of the Holy Spirit and scripture. As these men encountered angels they were all at key tipping points of history and God was growing their own faith as much as He was achieving His own purposes.

I will discuss the stories in the order they appear in the New Testament:

1) Joseph, betrothed and then husband to Mary, Jesus' Mother - Angels appeared to him three times. The first time they told him he should take Mary as His wife rather than divorcing her and putting her away. The second time they told him to take Mary and Jesus to Egypt because Herod was seeking to kill Jesus. The third time they told him it was safe to return to Israel. All of these messages provided for safety and security for Jesus as He was growing up. In each message the angel knows information that Joseph could not have known on his own. See Matthew 1:20-21, 2:13,19-20.

2) Philip was visited by an angel and told to go to a certain road. Philip obeyed and when he arrive the Holy Spirit prompted him to approach an Ethiopian eunuch who was studying the scroll of Isaiah, a passage that was a particularly powerful prophecy of Jesus. Philip lead the man to become a follower of Jesus, and even baptizes him. This is the beginning of the early disciples realizing that Jesus came for everyone; Jew, Gentile, slave, free, etc. (Acts 8:26-40)

3) Cornelius sees and angel who tells him to go find a guy named Simon, nicknamed Peter, who lives in Joppa with Simon the tanner. Cornelius sends three men to find Peter. Meanwhile Peter has a vision in which God instructs him to eat "unclean foods" and Peter refuses, good Jewish man that he was. Three times God gives him this same message in a vision (maybe because there were three men?) After his vision, Peter goes with them to meet Cornelius, he preaches the gospel and all of Cornelius' family members become Jesus followers. (Acts 10)

Philip and Peter were probably fairly content staying in their own culture and sharing that Jesus is the Messiah, but God had other plans. He wanted everyone to hear the gospel. Joseph was desperately trying to choose between two difficult paths. In each story it is clear that the angels simply provide specific directions for those who need it, and that their message must work in conjunction with the Holy Spirit, who is always with us to help us understand what God wants us to do. God had set up appointments, escape routes, and open hearts. These men simply obeyed. Not only do we benefit from their obedience by following their example, but also our own path to become followers of Jesus was made possible.

Sunday Digest 16

Some thought provoking websites I've seen in the last couple of weeks...no particular theme, just stuff to make you think a bit.

1. So how do we provide adequate housing, employment, and independence for people with intellectual disabilities? Mosaic (a faith-based group that serves people with disabilities in 14 states) thought it might be nice to ask them. You can see what some of them said here. I think they've got some good ideas!

2. A young boy with ASD gets excited about basketball. What to disclose to the coach? What will his teammates think of him? Real life...read it here!

3. A fresh take on what to do with the looky loos. You know...the people around you who notice there's something different about your kid and just can't seem to direct their gaze elsewhere.

4. A mom shares her thought process as she considers residential placement for her child. One of the hardest decisions a parent of a special needs child or adolescent could face, in my opinion. How do you even take the first step, when, and what factors do you consider?

5. We live in earthquake territory, and will all the temblor activity lately...you gotta wonder. A friend of ours participated in an earthquake preparedness drill yesterday. You can bet I'll be picking her brain next time I see her. Meanwhile, I've been hearing about registries for special needs families for quite a while. What do you think about this? Are you registered? Do you even know if it is available in your area? I can think of all sorts of situations where this might be helpful.

Best wishes for an excellent week, my friends!

A New Category and a Tribute to an Old Friend

During my blog-cation last week, one of the things I considered changing about how I manage "The Simple Life" is to change the categories of topics I post. One of the more blurry distinctions in my posts has been the Friday "News" and Saturday "Advocacy" posts. Since I often post news items where someone has been an advocate, or occasionally highlight a news item (like the health care debate) where I feel strongly that advocacy is needed, I'm feeling like those topics are somewhat redundant. They also require the most intense searching, and in my opinion lend the least room for me to add my own voice to the mix. Starting today those topics will be combined into "Good News and Awesome Advocacy" Fridays. Which leaves Saturday open to a new category. By far the posts I received the most positive feedback (though mostly off-line) in the last year were two posts where I broke down autism and sensory integration disorder into layman's language. These are both near and dear to my heart and obviously take up a large portion of the virtual space here. However, The Simple Life is not supposed to be just about autism. My original goal, way back when (over a year ago!) was to provide a space where all special needs could congregate and be considered in the light of faith. In order to do this I need to learn more about other disabilities and put them into Simple Life language. So each Saturday I intend to focus on one particular Special Need, highlighting the cause (if known), the symptoms, the treatments, and, when possible, showcasing a hero(ine).

What better place to start than with one of the first special needs that I became personally aware of. I remember in grade school attending a student assembly where a diminutive, but bubbly girl in a wheelchair was introduced to us as a "poster child" for March of Dimes. Her name was Zel, and she had Spina Bifida. I remember participating in a walk-a-thon, but I'm not sure if it was that same year. I did not know Zel well then, but her grandparents attended the church that I grew up in and would occasionally bring her to church. Eventually we ended up at the same Middle School, though she was one year behind me. She was one of few people that I would sit with during lunch. We "passed notes", giggled over boys and the crushes we had on them, spent hours on the phone, played in the band together (she on clarinet and me on bass clarinet) and in general had a typical Middle School girl friendship. The fact that Zel sat in a wheelchair was of little consequence to me. I learned how to steer her through the maze of school hallways (even down a step or two - good training for my current double stroller days), and after I learned to drive I even figured out how to transfer her in and out of the Volkswagen Rabbit that my parents allowed me to use, and how to fold her chair up to fit in what passed as a cargo space in that car. We didn't go anywhere very exciting - just to the mall or a park to hang out and moon over boys. Zel was upset when I decided to go out of state for college. She helped me sort through belongings to take with me. We managed to stay in touch for a few years. When I came home to visit I was sure to see her and we still "passed notes", though now through the U.S. Mail. The next year Zel also started college, but things didn't go well, and she returned to our home town to figure things out. Somehow after that we weren't able to connect as well. I was in an intense period of schooling. I stayed at my undergrad campus almost year round to do research during the Summers, and then I went on to grad school. I became less boy crazy. I probably did not do my share of holding up our friendship and we drifted apart, though I think both of us would still have considered each other friends. I was quite sad to hear that Zel passed away a couple of years ago due to complications from her Spina Bifida. I think because our relationship was so rich during our school years that I never realized how much Spina Bifida really affected and limited Zel's options. She was such a good friend that it never struck me how hard it would be for her to manage the transition to college, nor did I understand that her "boy-craziness" was in some ways her cry to be loved and accepted by the opposite sex in spite of her physical limitations. I didn't fully appreciate the amazingness of her generally upbeat and happy acceptance of life on life's terms.

Though well understood in terms of symptoms and treatment, the causes of Spina Bifida are not fully known. There is some genetic component to be considered, but environmental factors also come into play. It is one of the most common neural tube birth defects (1 in 1000 births), the group of birth defects that affect the spinal cord and brain. Like all neural tube birth defects, taking folic acid before and during pregnancy is thought to reduce the risk of occurrence. In Spina Bifida this may be related to a difference in how folic acid is metabolized. Early in a child's development (less than one month after conception) the neural tube (the part of a developing child that eventually becomes the spinal cord and brain) does not close completely and at birth a portion of the spinal cord is visible outside the child's body. The child must be immediately given antibiotics to ward of infection and usually within 48 hours surgery is performed to enclose the spinal cord. Before the development of antibiotics, children with Spina Bifida generally did not live long, or if they managed to survive were severely disabled due to complications from infection. Currently even with early antibiotics and surgery, in most cases some level of leg paralysis and lack of bowel/bladder control are inevitable. With the advent of prenatal ultrasound imaging, Spina Bifida can be diagnosed before birth, which has also opened to the door to surgical correction prior to birth. Often further surgeries may be required to address spinal cord deformities (scoliosis) and hydrocephalus (extra fluid around the brain). The goal of all treatment for Spina Bifida is to give an individual as much independence as possible in all areas of life.

In memory of Zel

In comments below please let me know Special Needs that you want to learn more about or tell me about a hero you think the world needs to meet.

Angels Part 1 Devoted to Worship

As a result of re-reading two Frank Peretti novels, some interesting discussion at our weekly Bible study group, and my read the Bible in two years commitment, I have been wanting to learn more about angels. Since I just finished the Fruit of the Spirit series here, and since my other studies take up my meager devotional times, I'm exploring the notion of writing about what I learn from my angel study here. I am not sure if there will always be a direct connection to special needs, but it will keep me accountable to actually do the study, and I hope it will be encouraging to you.

I am using a book called "Angels" by Douglas Connelly, A LifeGuide Bible Study. It is divided into eight studies. I don't expect to quote much of the book (it is mostly just suggested scripture passages and questions) but I don't want to pretend that the format is entirely my own idea, either.

First, some background: I believe angels are real, spiritual beings. The Bible speaks about them extensively. What is hanging me up is a mixture of what I will call "folklore" and flashes of Bible stories that I have heard from childhood on. I want to have a clear Biblical understanding of who these creatures are, what they do, and how they are different from people.

Today's passages are Isaiah 6:1-7 and Revelation 5:11-14. The Isaiah passage describes a vision that the prophet Isaiah experienced in the year of the death of King Uzziah (740 B.C, King of Israel). He suddenly finds himself in the presence of God and His angels. Isaiah calls the angels seraphs (which means burning ones) and describes them as creatures with six wings. Two wings cover their faces, two wings cover their feet, and with two they fly. As they fly they call to each other, worshipping God:

Holy, holy, holy is the LORD Almighty;
the whole earth is full of his glory.
Isaiah 6:3 (NIV)

Isaiah also describes a close encounter with one seraph. Understandably so, Isaiah becomes acutely aware of his own faults and sins and confesses aloud that he is undone because of his unclean lips. One of the seraphs flies to him with a live coal in his hand, touches Isaiah's lips with the coal and assures him, "See this has touched your lips; your guilt is taken away and your sin atoned for." (Isaiah 6:7, NIV)

In Revelation, the apostle John describes a similar scene around God's throne where millions of angels sing:

Worthy is the Lamb, who was slain,
to receive power and wealth and wisdom and strength
and honor and glory and praise!
Revelation 5:12 (NIV)

Their praise inspires every creature in heaven, on earth, and under the earth, and on the sea to respond in kind:

To him who sits on the throne and to the Lamb
be praise and honor and glory and power,
forever and ever!
Revelation 5:13 (NIV)

From these passages we can glean several truths about angels, and particularly seraphs:

• They are spiritually pure - they reside in the presence of the Holy God.
• They are actively at work worshipping God and tending the altar.
• They understand that sin requires purification and atonement.

Most importantly, we can enter into worship with them. Though we are not pure as they are, there is a way that we can be cleansed. Our sin is atoned for, and we can worship God as they do. I was particularly drawn to the simplicity of their worship. They focus on God's character - Holy, Almighty, Glorious, Worthy; and what He is due - in short, everything. This simple formula should be accessible to everyone. One of the blogs I frequent, Specialgathering, is focused on creating communities of worship for individuals with special needs. At the foot of God's throne all are equal.

Special Needs Adoptions on the Uptick

I'm sure you've all seen the articles, news stories, tweets, and so on about Katherine Heigl and her husband adopting a special needs child from South Korea. Since I don't follow Hollywood too closely (you would laugh if I told you the latest movie I've seen; and TV, ha!) I didn't really dare to add my thoughts to the mix of commentary. I couldn't avoid seeing everyone else's opinions in the feeds of special needs stories that I watch. Everything from opinions about Ms. Heigl's acting, characters, and need for a publicity stunt have been posited as possible factors in her adoption decision. Since I'm not familiar with her, or her work, I have no opinion on her individual choice except that in general our family is very pro-adoption, and I wish the new three-some well as they address the child's medical needs and bond as a family.

When I saw this story, however, I felt the need to comment. Again, in general I am pro-adoption. Our family has seen first-hand the power of attachment between an adoptive parent and their child. We know how God can use this modern arrangement to bring a child, or a parent, or both into His Kingdom. For a while the "thing to do" was to adopt a child from overseas. It is somewhat faster, less expensive, and can move children from an impoverished situation to one of relative wealth and ease. According to this story, the demand has out-paced the supply and international adoptions are now taking longer and costing more, too. What should the desperate-to-adopt parent do? Where should they turn? It seems the next big boom in the industry is special needs children. The recent celebrities who have followed this route have perhaps added some "glamorous" patina to the idea of adopting a special needs child, but it appears the uptick was happening before they got on board. Is adoption becoming such a consumer-driven process?

Some are concerned that the adoptive parents "don't know what they're getting into." I share their concern at some level -- except I also know there are plenty of biological parents who are not prepared for the challenges of special needs parenting (self most definitely included) and there is no "Now you can be a Special Needs Parent" exam. It's not like we're certified or anything...my concerns are at a different level, though currently they are only questions.

• Why is it a recent phenomenon? There have always been special needs children available for adoption. Why are they being adopted more now and not before? Is the motivation solely because the process can be so much more rapid? What does this say about the quality of compassion that is directing these decisions? What does it say about society's view of people with special needs?
• Which special needs are "adoptable" and which are still being set aside? I've heard there are "checklists" for which special needs a prospective parent is willing to take on. Is there a hierarchy of disabilities? If a generally misunderstood condition such as autism or some complex medical issue is present do the boxes get checked?
• Do these parents receive the support they really need? Adoption is a complicated process. Add special needs for the child and you have a doozy of a need for a support system.

Bravo to the brave hearts who are walking through this process. May God bless you as you join the ranks of special needs parents. May we as a society learn from your compassion that every child deserves the safety and security of a loving family.