#14/31 Ugh

Most days are good.

Some are lousy.

It's not been an "on" day for Hannah.   She just isn't listening.  My interpretation is that she's ignoring me.  Which doesn't make me happy.   In fact, it makes me pretty angry.

I can get angry quickly, if I've got a reason to.  And yes, I overreact.  And I'm loud.

I'm sure I am scary to the one who receives my wrath.  Nobody likes to get yelled at.

And yelling doesn't really solve the problem.  But it sure feels good to be the yeller.

When I yell at Hannah, she gets quiet.   She will sort of try to fix whatever it is that she's messed up, or try todo what she's instructed to do.  But she will never, ever apologize.   At least, not in a reasonable time frame. I'm sure that tomorrow I will hear a heartfelt apology.   But that doesn't make things better today.   It's really frustrating.

Frustration.

Yes, I do get frustrated with Down syndrome.  Why can't Hannah understand something today when she understood it a few days ago?  Why does everything have to take sooooo long?   Why can't I be more patient?

I actually am pretty patient with her.  Of course, we both overdose on each other on occasion, with just the two of us together every weekday.

And now, I can't tell if Hannah's having trouble today because of some neuronal glitch caused by excess genetic material, or if she's just behaving like a typical adolescent.   Is there a real reason for her behavior today?  I mean, is there a physiological reason?  Or is it just a random adolescent mood swing that makes her unaware of any one else's existence.

Am I asking too much of her?  I don't think so.  When I say, "Take a quick shower" she usually gets right down to business.  Today she had two reminders to get out.  I was busy with other things and was ticked off when she was still wasting 25 minutes of water (we're on water restrictions in our county).  After that, she was careless with her laundry.  Not sorting correctly (she does know how to do it--she's been at it for 8 months), not using the right settings.    Then there were several other lapses. Nothing huge, just totally annoying.  I expect my children to respond to a question.  I expect my children to obey a command (the FIRST time).  Generally, my expectations are met. Today I'd give an instruction, and she obviously chose either a) to not listen  /or/ b) couldn't process the information.

Now that I've settled down some,  I think that the answer must be b.   And where does that leave us?  Stuck with a faulty main frame processor, with no means of servicing it.

And that is what frustrates me.  I don't want to "fix" her.  I don't think there's all that much "wrong" with her. I wouldn't know where to begin imagining what she'd be like without that volunteer chromosome (that one that grew without intent).  But that chromosome is inexplicable.  I wish it would give out an error message, telling me the status of the processing unit.  Is the WiFi slow today?  Are there too many tabs open?  Is she using Internet Explorer when she should be using Firefox or Chrome?

I know just a few days ago I wrote that I couldn't tell what is Down syndrome and what is Hannah.  And I still don't.  When I wrote that post, I was content with Down syndrome.   And now I'm frustrated with it.

It happens a couple times a year.   A little burnout on both of our parts.
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And now, to not leave you in despair, here is a little story that happened yesterday.

At dinner, James asked her what she liked at school time today.   She couldn't remember a specific thing (retrieval of information is difficult--it's in there, but won't always come out of the mouth or pencil).  I prompted her with a few cues (Look at the other end of the table (where we lazily left out all our schoolwork)! Look for something red!   It's a c---).

Aha!  She said, "I liked using the count-you-later!"

I guess when you use a calculator you are really going to count those numbers later.

Prenatal Diagnosis--The Worst Down Syndrome

I recently checked my Feedjit to see how people arrive at my blog.   Many of you seem to be regular readers, since you log in as "direct", meaning that you have a link to my blog.  Others of you come from other blogs that have blogrolls (which I'd have if I wasn't afraid of snubbing someone accidentally by leaving them out). 
     

Others end up here by googling one thing or another.  I've had lots of hits from my Hannah Duston post, probably from unknown distant relatives!   Some Google searches are pretty funny--I had several hits from people searching for "Sick Humor", and when they arrived at Hannigans, all they got was a picture or two of a sick child and some bad kids' jokes. 
                                                         

 But the other day I saw a Google search that made my heart go out.   Someone, most likely a woman who just received a prenatal diagnosis of Down syndrome, searched for "What is the worst Downs Syndrome that a fetus can be diagnosed with?"   It stopped me in my tracks.

Google directed her to my World Down Syndrome Day post.   It picked up key words of Down syndrome, fetus, and worst (the doctors who deliver the diagnosis).  I am praying that something I wrote had some value to her.   But I fear that she did not find what she was looking for.  Not here, and not from any of the other sites that Google offered. Prenatal testing for Down syndrome is not providing the information people need.
                                                      

So, here, I offer words to that woman, and any other person who wants to know and understand the basic mechanics and then, reality, of Down syndrome, and how there isn't really a "worst kind".  
                                                      

 Every child with Down syndrome is unique.  Yes, most of the Ds population has similar characteristics, but there is no universal make and model.  There is a spectrum of ability in the Down syndrome population, just as there is a spectrum of ability in the typically developing population.  The range of abilities and interests, challenges and gifts is just as broad as any other population subset.   There is no "worst Down syndrome".   A person either has it, or they don't. Medically, there are no "levels" of Down syndrome.  Genetic testing does not tell an expecting parent if the child will have an infectious giggle, a stubborn streak, a terrific memory, or a taste for Macaroni and Cheese.  It doesn't reveal if the child will get ear infections or have perfect pitch. Testing doesn't tell if a child will be able to live independently or drive a car.   All it does is tell you there is extra genetic material.       
                                                                       

   I like to think that the extra chromosome makes people with Down syndrome more essentially human than those of us with an average chromosome count. There are difficulties to be sure, but there also is an amazing ability to live in the present.  To cut through all the societal strata.  To live simply and enjoy being alive.
  

  Many people who don't have a personal connection with Down syndrome assume that having a cognitive disability means a person is stupid.   This is not true at all. People with Ds are slower learners, but they are not dumb.  A person with Down syndrome is surprisingly intelligent, usually has a good sense of humor, and has above average ability to transform a bad day into a wonderful day.
                                                       

 I'm not going to try to sell you on all the good points, because I think that it sounds empty to someone who is just starting out. Every parent discovers their own silver lining as they uncover the secrets that hide in the extra chromosome.   Yes, there are some really good parts of having a child with Down syndrome.  And yes, there are some really lousy parts of having a child with Down syndrome. But I think that goes for having any kid. 
  

 Genetically/medically, there are three kinds of Down syndrome.
                                                                                            

 Trisomy 21:  This is the most common form of Down syndrome, making up between 90-95% of all cases of Ds.   This is when there is an entire extra copy of the 21st chromosome, giving an individual a total of 47 chromosomes instead of the usual 46.  Many people like to use the medical terminology shortcut of "T21", as it is more precise than Down syndrome (sort of like using the correct terminology of ALS instead of saying "Lou Gehrig's Disease").   The extra 21st chromosome is present in the egg (usually), or sperm (occasionally) before fertilization occurs.

Translocation Down syndrome has a different genetic setup.  In this case (approximately 3-5% of the Ds population) an extra 21st chromosome (or most of it) is attached to another chromosome (frequently it attaches to chromosome 14, but it doesn't matter where it is--the extra genetic material is present).  Individuals with Translocation Ds technically have only 46 chromosomes, but they have the genetic material of 47 chromosomes.   Again, this translocation occurs before fertilization. 

 The least common form of Down syndrome is Mosaicism.   This is when an individual has a mix of cells--some cells have 46 chromosomes, some have 47 chromosomes.  This occurs either because: a) The person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split, creating a cell with 47 chromosomes and a cell with 45 chromosomes. The cell with 45 chromosomes can not survive but the cell with 47 chromosomes will continue to divide. All cells that come from this cell will contain 47 chromosomes. b) The person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. Mosaicism occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.  ( I swiped this mosaic section from DownSyn because it pretty much said what I was going to say, but in a more succinct way.)                          
                                                            

 Mosaicism is hard to get your mind around, but the easy way to think about it is sort of like a grafted tree.  My aunt once had an orange tree that had lime and lemon branches grafted to it.  Three fruits, one tree.  Where the lime branch was attached, all further branches and sprouts were Lime.  The trunk of the tree was genetically Orange.  In Mosaic Ds, a lot depends on where and when the hiccup in cell division occurs.   If it happens early after fertilization, most cells will have 47 chromosomes.   If it happens further along in the zygote or fetal development, all cells that stem from the trisomic cell will be trisomic.  That means an individual could have very few cells with 47 chromosomes, or they could have lots and lots.  There could be lots of branches with oranges and a few limes and lemons, or, it could turn out to be the other way around.  There is no way of telling.  
                                                    

Many people with Mosaic Down syndrome have traits and developmental milestones similar to individuals with T21 and Translocation Down syndrome. Others have fewer traits or markers.  Some individuals with Mosaic Ds are not diagnosed for years or decades!    Mosaic Ds can be difficult to diagnose, since a particular tissue or blood sample may not indicate any trisomic cells at all.   I have a friend whose daughter was tested at least 3 times before they had a definitive Mosaic Ds diagnosis.  
                                             

 All that genetics stuff boils down to pretty much everyone being in the same pot.   If you pull out the very small population with Mosaic Down syndrome who have little or no effect from the over expression of the 21st chromosome, then you are left with about 98-99% of individuals with Down syndrome who fall into the category of mild-to-moderate cognitive impairment.  The range of abilities within this category is varied.   Most individuals with Down syndrome learn to read and write.  Many are able to live independently or semi-independently (this means with some sort of help--perhaps with budgeting or grocery shopping--math seems to be a challenge to many with Ds).  All are able to have meaningful relationships with their families and friends.  All are able to contribute to the world. 
  

Every parent wishes for the very best for their children.   Every parent's heart is full of hope, love and aspirations. An unexpected diagnosis throws parents into a whirlwind of uncertainty.  It's difficult to tell which direction to go, or if there even is a direction.  At first, adding Down syndrome to the picture seems to crush all of the beautiful dreams.   Most families have plenty of ups and downs during the first year.  It's hard to deal with sorting out mixed feelings.  Down syndrome is not a club most people want to join.  There is heartache (I had my share, and occasionally still do).  There is fear (what will happen to my marriage? my other kids?  will this baby be ostracized? financial concerns? can I love this baby?).
                                                        

 I discovered that when I was lost, my child was the one who showed me the path out of despair.  It isn't always about us, and our fears and concerns, however well placed they may be.  It's about a child becoming a part of a family. It's about a family learning how to love and dream again.  
                                                                                                                   
 I hear from many parents of young children with Down syndrome.  Over and over again they say:  If I knew then what I know now, I would not have cried a single tear.

Don't stop searching for answers.  Keep on asking the questions.  Be brave. Talk to that friend-of-a-cousin who has a sister-in-law with Down syndrome.  Email me.  Call your local Down syndrome association.  We're not afraid of the tough questions.  We know what it's like.  We've been where you are.  

If you have a prenatal diagnosis of Down syndrome, please visit this new website:

Down Syndrome Pregnancy.

Be My Brother

I just was visiting another blog and Sheila posted a link to this great short film. It features a man with Down syndrome, who manages to befriend a woman who is very unsure of how to interact with a person who is "different". This film won first prize at Tropfest, the largest short-film festival.

You can view "Be My Brother" here. Then come back and tell me what you think! It's only about 5+ minutes long.

Home Sweet Home

I didn't manage to post about my trip to the AIA Conference in Washington DC, so now I get to do it after the fact! I was sent to the conference by our local support group, The Down Syndrome Association of Greater Richmond. It was great! Some of my favorite researchers and Ds supporters were there--Dr. Bill Mobley and Dr. Brian Skotko, as well as lots of other presenters. The conference was for affiliate Ds groups to connect and communicate with one another--what's working, what isn't and what is coming down the line. The DS Guild of Greater Kansas City created the Affiliates in Action conference three years ago. This year it was sponsored by the National Down syndrome groups (Society and Congress), and my favorite, the DSRTF. The new Linda Crnic Institute for Down Syndrome (in Colorado) also sponsored the conference.

A hotel room with a view!

The big news is that the NDSS has changed its mission and strategy. The old mission was to support education, advocacy and research. Now it's "to be the national advocate for the value, acceptance and inclusion of people with Down syndrome." They are focusing on Public Policy. They have also produced some public service announcements that Regal Cinemas will be showing nationwide.

The other NDSS news is that they are revamping some of their policies regarding the Buddy Walk program. They will now have a licensing agreement that requires a 7% net donation to go directly to NDSS. I personally do not have any problem with this--but there were many at the conference who were infuriated. Keep in mind that many groups did comply with the "requested" 10-30% of net donations, but others would send NDSS only $500, or nothing at all. I don't want to get into arguments about this, but it seems to me that 7% is a reasonable amount.

I missed the most exciting part of the conference though--I couldn't get child care for Thursday, so I didn't get to go to the Capitol to meet Congressmen/women and Senators to discuss the Down syndrome Caucus and other issues relevant to the Ds community. By all accounts, those who went had great success.

The first evening I happened to walk past a line for hors d'oeuvres and someone saw my name tag and stopped me. It was my online friend Kathy R from the Michiana Down syndrome group (Northern Indiana and Southwest Michigan)! We had never met in person, but used to correspond about our kids with Ds. Her son, Danny, is the same age as Hannah, and they homeschool as well. It was fun to meet her in person. I met many other new friends, from all across the nation, and some from Canada as well. I went to dinner with new friends from the DSA of Charlotte, NC, and also hung out with one of the researchers from the DSRTF. It was a great experience.

I've been to many many Down syndrome conferences and symposiums. If you have someone in your family with Down syndrome, I highly recommend that you attend at least one national conference--you'll come away excited and energized (well, after a good night's sleep in your own bed).

I had been hoping to meet up with some of my old college friends who live in the DC area, but the timing didn't work out. I think I'm going to have to plan another trip to DC just hang out with them! And meet up with my legislators...

This I Believe, on NPR

My new online acquaintance, Nicole, has this link on her blog. It is a rather sweet story from a Dad. Though we didn't have a prenatal diagnosis, we went through the same uncertainties. Hannah was about 8 hours old when the pediatrician came and told me that he suspected Down syndrome. Receiving an unexpected diagnosis is difficult, but we soon had to put it aside, since Hannah developed oxygenation problems within a couple hours. She became critically ill with pulmonary hypertension; Down syndrome was the least of our worries for her. We moved past the developmental concerns very quickly, and focused on getting her to LIVE. She fought hard, and with many prayers, she survived. We finally got to bring her home after nearly a month.

Five days old

Certainly any doubts we had about raising Hannah are long gone--it's not always easy, but there is an unexpected joy that comes with the challenges.


It's literally been a roller coaster, but it's fun, even when it's a little bit scary.