Friday, January 16, 2009

Jan 15th Sandbox for Marco

Today was a red letter day for Marco. My Mom and Leif got him a SANDBOX. He loved it! He played in it for about an hour, I had to tear him away. When he was done, most of the sand was still in the sandbox! I will let the pictures speak for themselves. Oh, for the Dutch people who are freezing their asses off right was about 20 C here yesterday...Groetjes uit Californie!!! :)

Jan 13-14 Ode to Single Moms

Aaron had to go back to work this month, after 6 weeks of FMLA. His first shift back was a double, that means he worked 48 hours. Count into that his commute (to San Francisco) and prep/shower time after his shift, that means he is away 2 and a half days. When he is gone, I am a 'fire house widow'. During those long shifts, I get a very small glimpse of how it must be to be a single Mom. It gives me a whole new appreciation for these women, because I know that at the end of the shift, Aaron will come home (OK, well, one hopes, at least. LOL!) I also know I have the emotional support if I need it (he is only a phone call away). I can not imagine having to do it all on your own, every single day, with no spouse to help or at least support you. Wow. That takes a LOT of strength, character and dedication.
On the calendar it does not look like he is gone a lot, he works about 10 shifts a month. Since his shifts are 8 am to 8 am, and he has to drive 2 to 3 hours to get there, that means that I do the morning routine with the kids 20 times a month. This is part of the reason I chose daycare near my work (it is < a mile from work). It allows me to spend the commute with the kids (and use the carpool lane- that saves about 10-20 minutes if I am stupid enough to leave during rush hour). I still have a long time before I have to go back to work, but boy, it will be a huge difference from the days I used to roll out of bed, into the car and to the office with maybe a stop at Starbucks on the way. I came to the conclusion that as long as I am still nursing, with the 2 kiddos, it will take me 2 1/2 hours in the morning from getting out of bed to daycare. Thankfully, there is a brand new Starbucks between daycare and work!

Tuesday, January 13, 2009

Down Syndrome- What I know about it

I spent a lot of time reading about Ds in the past 6 weeks (oh, by the way, Annelies is 6 weeks old today). Here is a synopsis of what I know so far (kind of what we learned in Biology, but for me it has been a while).

Ds is also called Trisomy 21 (Tri = 3). The most common type of Ds is called Nondisjunction, approximately 95 % of people with Down Syndrome have this type and I am pretty sure this is the one Annelies has (we will know for sure once we speak with the Geneticist). Nondisjunction Ds is the failure of one of the reproductive cells (can be the sperm or the egg) to separate during meiosis (this is when the cell divides- normally it would divide into 2 sets of 23 chromosomes. In this case, it divides into one set of 22 (dies off) and one set of 24 chromosomes. When it comes together with the other reproductive cell which carries 23 chromosomes, there is a total of 47 chromosomes instead of 46 (the normal amount). The extra chromosome is an additional 21st chromosome, so instead of 2 21 chromosimes, a person with Ds has 3 of them. Because the 21 chromosome is smaller than the others (it is the smallest one) it carries less genetic material than all the others, and T21/ Ds is survivable as opposed to Trisomy 18 which is much less so.
Approximately 4-5% of people with Ds have "Translocation Trisomey 21". In this case, the extra 21 chromosome attaches itself to anothe chromosome, usually 14, which also results in 3 copies of chromosome #21. As in Nondisjunction T 21, approximately 75 % of cases of Translocation are caused 'spontaneously' during fertilization. 25% of cases of Translocation can be inherited from a parent who has a genetic abnormality, called a 'balanced carrier'. This person has no symptoms and would never know they are a balanced carrier until they have this genetically researched.
A picture of a person's chromosomes is called a "Karyotype", we will have a copy of this for Annelies once we see the Geneticist, and I will post it. Much research is still being done as to specifically which genetic information is located on that 21st chromosome, a lot has been found already and helps in determining what people with Ds should be aware of.
Having this extra chromosome affects individuals in different ways, most significantly health wise. I learned that Ds in itself is the least of your worries. Here is the list of health issues we are grateful we don't have to deal with at the moment:

  1. Approximately 50% of people with Ds are born with congenital heart defects, many require surgery in the first 6 months of their lives.

  2. Gastrointestinal problems, partial or total block in the part of the duodenum (just beyond the stomach). Occurance approximately 7 %. Higher occurance of Hirschsprung and Celiac desease. Also possible problems are reflux and constipation, caused by decreased muscle tone. Neither of these are problems for Annelies, and with a healthy diet she should not have constipation issues.

  3. Decreased muscle tone: Depending on how low the muscle tone is, this affects motor development. Much is done to help with Physical Therapy /Early intervention. Annelies has Low-Normal muscle tone, meaning it is low cpmpared to 'regular' babies, but still in the normal range, and on the high end compated to others with Ds. I am so grateful for this.

  4. Higher occurances of Umbilical hernia's, Epilepsy.

  5. One to be aware of is Atlantoaxial Instability: Too much movement between the first and second vertebrea in the neck, 15% occurance rate. This may cause spinal cord damage if not detected and fixed. Annelies will be screened for this around her 3rd B day. If this is a problem, the treatment is surgery. I am hopeful that in the next years, advances will be made for this problem.

  6. Sight and hearing will have to be screened on a regular basis, probably every 6 months. To me, these are things that can be fixed and I am not afraid of them, but it is so important to catch any possible issues with sight and hearing since they would hamper development.

  7. Higher occurance of Leukemia

  8. There are more, but these were the hard hitters for me.

I have been told (and I agree) that this is the best possible time to have a disability. So many advances have been made. Open heart surgeries that were not possible even 15 years ago are now routine.

We plan to live out lives on a day to day basis, without getting too freaked out about what the future holds for Annelies. I see her horizons the same as I see them for Marco, with many opportunities to find out what she enjoys, and build on that. Kids with Ds go to college these days, they play sports, they live on their own, get married, etc. She will have the best of the best of early intervention and therapy to help her on her way, but she will also be expected to live a 'normal' life. When I go back to work, she will attend the same day care Marco goes to, they have already welcomed her with open arms.

There is no reason for me not to be positive and hopeful for our future.