|Posted on March 21, 2017 at 3:05 AM||comments (11)|
This will be my 3rd World Down Syndrome Day.
A day that brings an interesting set of mixed emotions. What does this day mean? Do I really want to celebrate it? Or what am I celebrating? What am I supposed to DO?
Our first WDSD- I was still processing the whole diagnosis. Connor was a few months old, and a few months out of open heart surgery- I was still trying to get my bearings. I certainly did not want to celebrate a condition or disease (whatever you want to call it- that is for another blog...) that was the cause of my child having to have open heart surgery! A condition that rocked me to the core, and the more I learned about it (meaning the biochemistry- what is ACTAULLY HAPPENING........) scared the &%#(% out of me.
I probably "boycotted" our first WDSD.
But time has moved on, I have processed a lot, learned a lot...and loved a lot.
Trisomy 21. 3 of chromosome number 21. You have 2, Connor has 3.
So we have this extra chromosome here- this extra chromosome that has genes that are fully functional and expressing, and causing massive changes at the biochemical level that directly effect structure and function in profound ways. Mostly profoundly BAD ways.
And we have ways that we can HACK these genes- either by down-regulating them directly or through the up-regulation of other proteins that then down regulate over-expressed proteins, and this in turn, dramatically changes biochemistry- which then dramatically changes function, structure, health and vitality.
No- there is not currently "A CURE" (whatever THAT means) for Down syndrome. Or at least not yet- this is a little different that other diseases that are largely EPIGENETIC in nature. It's one thing to have mutated genes...it's another to have a whole extra chromosome.
For me, this whole thing is a glorious messy dichotomy....in which I can hold space to bless and be grateful- yes you heard that right- for the extra chromosome, while at the same time I am addressing it. I try not to think of it as 'fighting it". I don't want the energy behind that. I want to focus on what I WANT, versus what I DON'T want.
And to be honest, we don't KNOW for sure, all of the GIFTS the extra chromosome brings. We spend so much energy on how bad it is, that we don't look for or acknowledge the possibility that there might be some good. When you are an empath, and intuitive, you can sense those intangibles. There is something different, something unique, something extra that comes with an extra chromosome. This however is a VERY touchy subject in our Ds community.
For me, this is a day to try to bring some awareness about Down syndrome-
that it is not a contagious illness, or caused by incest, or a punishment from God......(please.........)
that people with Down syndrome have just as much potential as anyone else, especially when given the opportunities to succeed
that having a child with Down syndrome is NOT a burden- none of us are suffering
that the vast majority of babies with Down syndrome are aborted- based off of fear and misinformation and prejudice- there is a world wide genocide here- and it is important people know about it
that people with Down syndrome are more like you and me than they are different
that is it still ok that people ARE different. Different does not have to be a bad thing.
that people with Down syndrome learn, go to college, start business, have jobs, get married, have children...you know- have a life
you HAVE a diagnosis, you ARE NOT your diagnosis
you can have a diagnosis, and still be expressing health and vitality
that much of the biochemical complications of it can be treated- and more discoveries are being made!!!!
there are so many wonderful things out there- Targeted Nutritional Intervention, Neurodevelopmental programs, light therapy techniques.....so many things available to help people that can dramatically change lives
that even with all these things, there are still unknowns, people with DS that are struggling, and not responding to treatment- and so more research is desperately needed.
Researching Down syndrome is not "sexy". Much of the research has to be privately funded- which means organizations like https://www.lumindrds.org/ and www.http://lejeuneusa.org/ need your help and support.
Connor AND his diagnosis expanded my heart so much, I see the world differently now, I FEEL the world differently now. That just would not have happened without that blasted extra chromosome that I am frenemies with. #truth
Without DOWN SYNDROME my life would be totally different. And I am convinced not for the better. I am a member of a club, a tribe of other people lucky enough to have been chose to walk this path. I have met the most beautiful souls through this diagnosis. The mamas I have met have become some of the closest people to my heart. My life is better because of an extra chromosome, and I am so thankful God designed it that one.
One Extra Ordinary Journey. One Extraordinary Journey.
UN Secretary-General Ban Ki-Moon's message for first WDSD celebrated in the US- 2012
"On this day, let us reaffirm that persons with Down syndrome are entitled to the full and effective enjoyment of all human rights and fundamental freedoms. Let us each do our part to enable children and persons with Down syndrome to participate fully in the development and life of their societies on an equal basis with others. Let us build an inclusive society for all."
For more information, see www.oneextraordinaryjourney.com
|Posted on March 20, 2017 at 3:10 PM||comments (1)|
This blog was inspired by this post where we learn how countries are loudly and proudly affirming that they will have Down syndrome eradicated, via abortion based on prenatal testing. To read about this, please see the post below.
This makes me want to rage and cry at the same time- like my heart and my feelings are so extreme and conflicted…the anger and the despair…..it is like a great storm…..partly because it brings up my own unhealedness with myself and my own prejudice I had before Connor.
Where I am at now, the person I have become…all because of my beloved son, my soulmate…….. I think about how governments and doctors push abortion….and those poor mamas who chose to abort, it is all fear based. Fear based because people with Trisomy 21 are seen as different. And then that is used against families. We are taught that people with Trisomy 21 are a BURDEN on society, on families. That siblings and families “SUFFER” because of it. That they would be better off dead, we all would, because they can’t lead ‘normal lives” and all the other bullshit they say.
We are manipulated with the lies and prejudices, and we have done a massive.. massive injustice to people with Trisomy 21.
It is all fear based. All of it. And most get ‘the diagnosis” and their first reaction is fear and despair- and what is that based on? Lies. It is all based on lies.
And we thank God when our babies pass the test and “don’t have it”. Because what else could be worse than having a baby with Down syndrome? That is what we are taught.
And it is such a lie.
And I bought into the lies. And I grieved HARD when we got the diagnosis. It was the dark night of my soul. I puked ALL NIGHT, rejecting this truth. Feeling my life was over. How did this happen??!? Nothing can be worse. Why did this happen? How could God do this to me? How could I manifest this? My life is over.
And I was right. My life was over. I died that day. My heart was broken that day. My son broke my heart that day. He crushed me. He destroyed me. Annihilated me. To be reborn. To be resurrected. To learn and experience love in a form unlike any other. Connor transformed my heart, he broke my heart OPEN. And I THANK GOD EVERY DAY for Connor and for that damn extra chromosome, as much as I also battle with it, I bless it, I bless Down syndrome. I thank God for the plan, for the destruction, for the devastation. I am blessed. I am lucky. Because this experience is part of the plan, it is my soul’s journey. And Connor is my teacher, he is my catalyst.
And every other parent of a child with Ds will tell you near the same thing.
So I think about the extermination of these souls who are here to teach us LOVE in a way unlike any other, and it hurts so, so badly…..not to mention , I think about the souls exterminated who don’t even HAVE Ds, but it is ‘thought” they do because of a test. A test.
Oh how our planet would be different if we could all experience the love of a person who has ‘a little something extra”. If we could open our hearts to something different. Something special. Something unique. For us to be brave enough to look deeply into the eyes of someone who radiates love- let that touch us, let it transform us.
But I have faith, I KNOW God will not let this happen. It is a fact, Jack. These countries who feel they are so enlightened, they can play God and brag about their numbers, and Heaven laughs…… and those of us who can find it in our hearts to get past the sadness and anger from a world that tries to tell us our children are mistakes, disposable, and should not be here…..we will find the Grace to bless these poor misguided souls. Trisomy 21 isn’t going anywhere. It is all part of the divine plan.
|Posted on March 21, 2016 at 9:40 PM||comments (6)|
Recommended Lab Tests in Down syndrome
Dr. Elizabeth Hesse Sheehan DC QNCP CCN www.experiencehealth.info
Due to the nature of Down syndrome (a progressive disorder caused by the expression of various genes on the extra chromosome and the biochemical reactions that causes) appropriate management is critical. So much of not most of the issues in Down syndrome can be helped significantly with TNI (Targeted Nutritional Intervention). TNI allows us to support the various biochemical pathways that are being affected by T21. Lab test are a crucial and vital tool in the management of this disease. We have at our disposal several tools that allow us to not only assess various aspects of our biochemistry, but that also help us gauge the effectiveness of our treatments. This is a great gift in helping people with Down syndrome live lives that are more functional and fulfilled. This is a comprehensive list of different tests that are useful in Down syndrome management. Some of these tests can be run at your local lab (like Quest or Labcorp), and others will need to be ordered, as they are more specialized tests. Not all of these can be done or may need to be done at the same time. It depends on what is going on with your child, their age, etc. You might need to stagger some the blood tests. Basic Labs
* CBC w/ Differential- to check in immune status and screen for various anemias
* Chemistry Panel (including LDH, uric acid, phosphorous, iron panel(serum iron, ferritin, TIBC and % Saturation) along with the basic, electrolyte, liver, and kidney tests found in a chem panel)
* Thyroid panel (must include Free T3, Free T4, Reverse T3 as well as TSH- all 4 very important)
* Thyroid Antibodies (Anti Thyroglobulin, TSI, and TPO) need to be run at least once for screening
* DHEA-S and am Cortisol (collection for this test must be done 7-9 am)
This test can also be done via urine and saliva if needed. Nutrients
* Vitamin D 1, 25 OH and 25 OH- needs to be both in case there is an issue with Vitamin D receptors. If blood work is hard to get on your child- I do have Vitamin D blood spot kits available).
* RBC Mg (much more accurate than serum Mg)
* Celiac screening- if not been done. Very important in Down syndrome!
Other tests to add on or do at another time via regular labs
* RBC Copper
* RBC Zinc
* RBC Selenium (these are all important things to look at in Ds)
* Vitamin A
* Lipid panel
* Carnitine, serum
* IGF-1 (an way to monitor growth hormone, not the most specific, but will give you a general baseline- may require the real human growth hormone test which is quite a bit more intensive)
* Methylation Profile- the best test is from Doctors Data (a specialty lab, and can be done as a blood spot test!) which you can order from my office. Or ask your doctor to at least run homocysteine, to get an idea of what is going on with the SAM cycle due to the overexpressed CBS gene.
* Immunoglobunlin and IgG subclasses- especially if chronic immune issues
* T and B Lymphocyte Subset with NK 56- this test gives a more detailed look at immune system, and may be especially useful for those kids with TMD, leukemias and lymphomas.
Other Helpful Labs/ Specialty Labs These are lab tests that are very useful from a wholistic or biomedical/ functional medicine perspective. Most conventional medical doctors and pediatricians will not be familiar with them. I am happy to help you get these tests done for your child. Many of them are saliva or urine tests, and can be done separately from the blood tests. Please know that not all of these tests may be needed for your child! Work with your integrative doctor to determine which tests your child needs most at this time.
* 23andme from http://www.23andme.com to get a comprehensive list of other snp mutations that might also need nutritional support, like the famous MTHFR snp.
* Oxidative Stress Analysis- Genova Diagnostics- oxidative stress is the culprit for most of the issues we see in Down syndrome. These test help to monitor this vital issue.
* ONE- from Genova Diagnostics- is a urine test that gives you nutritional information on vitamin, mineral, antioxidant and amino acid status.
* OAT (Organic Acids Test) from various labs
This urine tests yields a variety of information from neurotransmitters, vitamins, yeast and bacterial infections, fatty acid metabolism, oxalate screening, and mitochondrial function.
* Heavy Metal Testing- from various labs, can be done via urine or hair- good to assess toxic metals and elements, which cause oxidative stress and damage tissues.
* Comprehensive Stool Analysis- ( various labs) especially if there are gut issues and a history of antibiotic usage.
* Food Allergy Testing (can be done as a bloodspot, from various labs
* Comprehensive Fatty Acid Testing
* Amino Acid testing- can easily be done via urine
Tests you can do at home!!!!!
* Electrolyte and Mineral Testing, and basic biochemistry buffers…we use the testing kits from SenseAble Supplements- these are simple taste/smell tests!
* Oxidata oxidative stress- a urine MDA (Malondialydehyde) test you can do yourself at home as another monitor of oxidative stress- kits are available from my office.
* Iodine Patch Test
Lab tests are a little scary, but overall very empowering. There is no reason why we can;t significantly affect the health of people with Down syndrome with proper diet, targeted nutritional and supplemental therapy based on their individual and specific biochemical needs. If you do not have a doctor who will work with you ordering tests, find a new one! Many doctors, like myself, will work with you via Skype and the phone. If insurance coverage for some of these tests is an issue, we can get many of them a significant reduction in cost by going through http://www.directlabs.com/experiencehealth. Blessings and Health to you! Dr. Elizabeth