Gene-Mapping....Interesting

I came across the article below on the news. It was very interesting to me, because the parents ended up using targeted therapy to treat their children.

While Gene-mapping is very expensive and I don't think it is necessary for people with DS (at least right now), it still made me think.

We already know what causes the symptoms of Down syndrome. An extra chromosome. And therefore all sorts of proteins, genes, etc are overexpressed and rearing their ugly head at times.

I wonder, if in the future, if Gene-mapping ever becomes a more routine thing (and therefore less costly), if it would be beneficial for people with Down syndrome? Because every person with Down syndrome is different, their 255+ extra genes on the 3rd chromosome are going to be affecting their body differently. And to get a targeted nutritional plan for them based on Gene-mapping may help a lot.

That is something which may never happen or may be years in the future. So, for now, I'm extremely thankful for what we can do and target with nutrition via all the research that is done. There is SO much that can be done. My brother, along with thousands of other children with Down Syndrome are living proof of that.

Gene-mapping solves Calif. twins' mysterious illness

Will gene-mapping technology transform the lives of people suffering from serious illness? For one California family, it already has.

Alexis and Noah Beery of Encinitas, Calif. are now healthy, fun-loving teens, but that wasn't always the case. From birth the twins - now 14 - suffered from one illness after another. "It was a household, kind of, under chaos" their dad, Joe Beery, said in an interview on CBS' "The Early Show."

When the twins were two, their doctor diagnosed them with cerebral palsy. But their parents were skeptical.

"When you have cerebral palsy, you normally don't get any worse, and Alexis continued to get worse and worse," Joe said.

The kids were experiencing seizures, uncontrollable vomiting, and problems with balance and coordination. A family video shows young Alexis losing her balance, and her mother said during this time she wasn't even able to put on her own seatbelt. By age five, Alexis was regressing to the point where she lost motor abilities she had before. "At that point I knew something wasn't right," their mom Retta said.

Retta took to the internet and found an article about Segawa's dystonia. The rare movement disorder that mimics cerebral palsy, but can be treated with the Parkinson's drug, levodopa. A new doctor confirmed her suspicions, and once Alexis got treatment, she improved dramatically.

But two years ago Alexis suffered a serious setback experiencing breathing troubles that sent her to the emergency room. "We almost lost her a couple times," said Retta.

The same tenacity that led Retta to find the Segawa's disease diagnosis led her to find Baylor University's Human Genome Sequencing Center. She thought if her twins had their genomes mapped, doctors could pinpoint the defective gene and fix it.

And that's just what happened.

"We were able to zero in on the exact gene that was broken or wrong" the center's director Dr. Richard Gibbs, told CBS News. "These twins were immediately able to be offered a new treatment that could benefit them, and we're able to see that directly from the DNA information."

Today, Noah and Alexis are symptom-free on a personalized treatment of dopamine and serotonin supplements.

CBS Healthwatch medical correspondent Dr. Jennifer Ashton calls personalized medicine like this is the wave of the future, but says it's not for everyone.

"It's really most effective when you're talking about a disease or disorder where there's a single gene that's mutated," Ashton said. "That's where the targeted therapy becomes really effective." Gene mapping isn't cheap either - Ashton reported that Baylor's genome mapping costs $100,000.

But for the Beerys, it was all worth it. "The sequencing gave us answers, the sequencing gave us new life," Retta said. "To see our kids doing all the things that we only dreamed of, is truly a miracle."



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Life On The Ranch: Birds

One of the newest additions to the ranch have been more chickens and 20+ ducks.

Chickens are of course for eggs and the ducks are for bug patrol & meat (once they start laying eggs & hatching out chicks).

O & the kiddos have quite a fun time letting the birds out in the morning and closing them up at night. They also enjoy trying to catch the chickens.....and do a pretty good job of it most of the time.

O & his twin sister also enjoy playing in the kiddie pool when it's first filled up in the morning before the ducks get it.

The ducks are quite hilarious to watch in the little pool once it's all filled up :).

Twitter anyone?

Yesterday I fixed up my twitter account and "personalized" it to go along with the blog here. I figured it's just another way of social networking, advertising and getting the word out there about Down syndrome, our book, nutrition, etc.

You can follow us on twitter @GotDownSyndrome.

Do you have a twitter account? Add it here to this link up below so that others can follow you as well!



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Which Blood Tests?

There's a question that is commonly asked in regards to what blood tests should be done for people with Down syndrome, both on DS forums & listservs and in emails I get. I thought I would put a post up with an explanation of each test here for easy reference whenever the question arises! And also, for those who haven't heard of or thought of what the recommended blood tests are.

The list, taken from Dr. Leichtman's website:

"-CBC every 6 months until 6 years of age.

-T3, T4 and TSH every year for life.

-Metabolic Testing:
        If working through a local lab only: Obtain serum levels of Vitamin A, iron, ferritin, zinc, selenium, and homocysteine, IgA tissue transglutaminase anitbody, endomyseal antibody."

Now, to explain the testing.

1) CBC or Complete Blood Count. This tests all the levels of white blood cells, red blood cells, and everything that has to do with blood. This test is mainly to look for leukemia, because it can be more common in kids with Down syndrome.

2) T3, T4 & TSH (Thyroid Stimulating Hormone). Ideally, you should have the Free T3 & Free T4 tested. If there are concerns that the thyroid may not be functioning well, you can also get a test for T3 Uptake. These tests are all to keep an eye on thyroid problems - hypothyroidism, hyperthyroidism, etc. Thyroid problems, particularly hypothyroidism is at an increased risk for people with Down syndrome.

3) Vitamin A. This is to keep a level on a fat-soluble-vitamin which is given kids with DS to ensure that the level does not get too high.

4) Iron & Ferritin. These tests are to keep an eye on, well, iron levels ;). Ferritin is a very important test in addition to the Iron test, because it is the actual stores of Iron in the body. If ferritin (the storage of iron) is low, then you have a problem.

5) Zinc. This test is watch for deficiency in zinc. Zinc is commonly deficient in people with Down syndrome. O was deficient in zinc from the first time we tested him, which is why he takes 25-30mg/day of extra zinc. But, we still routinely test him to make sure that his levels stay good.

6) Selenium. Selenium is another thing which is commonly deficient in people with DS, which is why it is recommended that it is tested. O was also initially deficient in selenium, but since taking Nutrivene-D, his levels have normalized.

7) Homocysteine. The messed up SAM cycle (because of the overexpressed CBS gene), causes a folate trap, where the body is not able to adequately use folate. Therefore one of the problems it creates, is low homocysteine levels. Homocysteine is very important for proper mental function and if it's too low or too high, it causes problems. It can be hard to correct this low level of Homocysteine, but there is supplementation that can be done to help.

8) IgA tissue transglutaminase anitbody, endomyseal antibody. These tests are looking for Celiac Disease, which is another thing commonly seen in the DS population. This routine testing may be able to identify Celiac before it becomes a severe problem.

One thing I stress all.the.time, is to get a copy of your child's lab results. It happens all too often where the doctors do not truly tell the parents the complete results. It's happened to us, even though we request copies of the results!

Even though the lab results may be within "recommended range", it doesn't mean everything is okay. Is it on the low end of the range (deficient)? The high end of the range (too much of something)? Is something just not right (like a slightly high MCV, most people will not catch it)?

Ask questions. Request copies. Research. You'll be able to help your child's health a lot better. And potentially save yourself a lot of trouble.

Plus, make sure you get someone who knows how to do hard draws, if your kid is a hard stick. We don't put up with anything and always ensure that the person who draws O's blood knows how to get it the first try.




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Changed Things Up A Bit!

I was writing a blog post up yesterday (which is scheduled to go live in a couple days ;)) and thought it was time to change the design of the blog. Within an hour and a half everything was changed up on the blog!

So, come on over here (I linked this, so those of you on email readers can click to view the blog) and see the new design. Let me know what you think. I made it so that it is only a two column blog now, which makes it so that it looks a bit less cluttered, and can have bigger pictures in the posts.

Let me know what you all think!

Enjoy!

Saving Down Syndrome

A New Zealand group has formed called Saving Down Syndrome. The goal of the group is to counteract the genetic screening which the New Zealand government has recently pursued to find out about the diagnosis of Down Syndrome prenatally.

As I've said numerous times on here before, I have no problem with prenatal testing for Down syndrome if the goal is to help and better improve the life of the baby with Down syndrome. But, unfortunately, most of the time, the child is aborted and not helped. As the statistics show time and again 90% of babies prenatally diagnosed with Down syndrome are aborted.

It's sickening and sad.

Here's a quote about what Saving Down Syndrome is trying to do:

At savingdowns.com we advocate for the life of people with Down syndrome from conception to natural death.

We are a New Zealand based group of parents and siblings of people with Down syndrome. We have formed in response to the New Zealand Government's new state funded eugenic antenatal screening programme that targets and identifies unborn children with Down syndrome for selective abortion. Were in the news for standing for the life of people with Down syndrome.

As reported on TV3 News we lodged an application with the International Criminal Court (ICC) on 29 June 2011 against the screening programme. The ICC has confirmed that this application is being considered. The Office of the Prosecutor has been asked to investigate and intervene in the Ministry of Health's antenatal screening programme, as it persecutes against people with Down syndrome through the prevention of their births.

The eugenic nature of the screening programme was exposed in TV3's 60 Minutes documentary on 12 June 2011 “Down but not out''.

The 60 Minutes documentary was introduced with the statement “people with Down syndrome may soon disappear from the face of the earth.'' 60 Minutes revealed the new screening programme was introduced without public consultation and the Ministry of Health “did not bother'' asking the opinion of anyone who has Down syndrome, about the programme.

Mike Sullivan, father of three-year-old Rebecca Sullivan who has Down syndrome, featured in the 60 Minutes documentary. He said people with Down syndrome and other disabilities are human beings who live full and rewarding lives. “They must be treated on an equal basis with other members of our society, without any form of discrimination.''

De-Anne Jensen, mother of three with her oldest son having Down syndrome also featured on 60 Minutes. “Government documents say it costs less not to have children with Down syndrome around, so it looks like they are working to do away with Down syndrome. It's cheaper; you don't have to pay for the special needs things. The Government and medical experts are putting a monetary value on our baby's lives,'' Mrs Jensen said.

The complaint references Government Cabinet papers obtained under the Official Information Act stating the outcomes of the programme will be a reduction in the number of births of people with Down syndrome, with around 90% of unborn children diagnosed with the condition being terminated. The persecution of an identifiable group of the civilian population through the prevention of births is specifically prohibited under the Rome Statute of the International Criminal Court, to which New Zealand is signatory.

The programme is promoted and funded by the government at a cost of $9.4M per year, or around $75,000 per unborn child diagnosed with Down syndrome.

We are supported by parents of children with other disabilities that are being similarly targeted and other organisations who support their concerns.

Our position statement is that genetic screening must not be used to prevent the birth of unborn children with Down syndrome, or cause harm to any unborn child.

We recognises genetic testing may help some parents prepare for the birth of a child with Down syndrome. Any testing must respect the life and integrity of the unborn child, cause no harm, be only directed towards safeguarding or healing the unborn child and be presented in a way that does not discriminate against people with Down syndrome or any disability. Any testing must be developed in full engagement with those with Down syndrome.

Recipe 16: Gluten-Free Baking Powder Biscuits

Well, I haven't posted recipes up for a bit now, although I've had some to post up for a couple months!

So, I thought I'd start with a simple, quick & yummy biscuit recipe.

Baking Powder Biscuits
Remember there is a printer friendly button at the bottom of each post :).

Ingredients:
4 cups rice flour
8 teaspoons baking powder
1 teaspoon salt
1 cup shortening
2 tablespoons sugar
2 eggs
1 1/2 cups milk

Directions:
1) Mix together flour & baking powder
2) Stir in salt & sugar.
3) Cut in shortening until crumbly.
4) Stir eggs & milk together.

 

(O cracking an egg into the bowl)

5) Mix wet with dry ingredients with fork. Stir just to moisten.

6) Turn onto lightly floured surface. Knead about 15 times.

7) Pat into a circle about 1/2" thick.

8) Cut out rounds with a sharp round cutter. *Note: We use a small Mason jar lid to cut the rounds out.

All the biscuits from one batch, ready to put into the oven.

9) Bake at 350 degrees for 15-20 minutes until they look golden brown.

Enjoy!

The Importance of Straw Drinking

I recently received an email from one of my followers who is also a fellow blogger, Gretchen Mather (Julian's Journey), and she was wondering why straws should be cut for kids with Down syndrome.

Since I knew I had put a post up sometime ago in regards to cutting straws, I went back to read it and see if it covered the question, and it did not. It's an important thing to note and remember for kids with Down syndrome, so I thought it deserved it's own post.

When it comes to using straws, they can be very beneficial. But, if they are not used correctly, they can cause more harm than good. Part of the TalkTools oral motor program is to use their straw hierarchy. We've slacked from following it strictly, but it works very well.

Now you might ask "what does drinking from a straw have to do with oral motor therapy?"

Well, there's a lot to it.

A child can learn to drink from a straw from an early age. We taught O how to drink from a straw around 13 months old (because that happened to be when we found out about it) with the Honey Bear cup from TalkTools. It's very easy to to teach a baby how to drink out of the Honey Bear because you can squeeze it and the liquid will go up the straw into the child's mouth.

For a child to learn how to drink out of a straw, it'll greatly encourage tongue retraction and discourage tongue protrusion. But,  most of the time, when the child learns to drink from the straw initially, they will drink with their tongue sticking out and therefore be sucking with their tongue, not their lips. This does the exact opposite of what you want the straw drinking to do. This encourages tongue protrusion and completely prohibits tongue retraction.

Therefore, you have to start out with the first straw from TalkTools and slowly cut it down to where there is just 1/4"-1/2" of the straw for the child to suck on. The first few straws also have a tongue block so that the child's tongue won't be able to stick out. After the child gets accustomed to drinking out of a short straw with straw #1, you can move onto straw #2. Straw #2 uses a lip block as well. You move on as the child progresses with each straw.

Doing this straw hierarchy, or just implementing it at home by cutting straws short, putting lip blocks on the straw or reminding the child to suck out of a straw with their tongue in, will make it so that the child's tongue does not hang out of their mouth. And it will also make it so that the child's speech will improve, because their tongue will be stronger and not in the way as much.

We remind O to suck with his tongue in his mouth, since it can be a habit sometimes to have his tongue out when sucking out of the straw. But, most of the time he does it well and as he is just relaxed, most of the time his tongue stays in his mouth. The only times it does not is when he's very concentrated on doing something ;).

So, I hope this explains some how important straw drinking is.

Using Natural Beef & Organic Meats: The GAPS Diet

The weeks have been flying by and the blog posts have been definitely lacking! I have so many things I'd like to blog about. I've gotta get back into the routine of scheduling blog posts, so we'll see :).

Some of my family is on what is called the GAPS diet, or the Gut & Psychology Syndrome Diet. This diet was developed by Dr. Natasha Campbell-McBride. My 19 year old brother has a lot of food allergies and he seemed to just keep getting more. He would cut out one thing, then be good for awhile, then something else would bother him. We've known about the GAPS diet for a few years now, because a lot of people who have kids with DS and/or Autism use it.

The whole focus of the GAPS diet is to heal the gut and restore good gut flora & functioning. We've tossed around the idea of doing it with O for a few years because of his reflux problems. But, each time we think about doing it, we end up finding out what is causing his reflux problems. As of right now that's just gluten & cow dairy, so he has not gone on it yet. At some point, he may, but we don't feel it's absolutely necessary right now.

But, it is for my 19 year old brother, Norayah. He finally said, "Put me on the GAPS diet." It's been almost 2 months now since we started the diet. The diet starts out slow and goes through a series of introductory stages before going onto the full diet. It is recommended to stay on the whole diet for at least 2 years.

A LOT of the diet is meat and it should, ideally be organic meat. For us, this has been pretty easy, as we raise and butcher our own animals for meat.

We had already started doing this, because so much meat has been washed or "contaminated" somehow with corn and Norayah has an intolerance to corn. So, that left us with raising our own sheep, goats, pigs, rabbits & natural beef from cows my cousin raised.

You can buy organic beef online or find other organic meats at local farmer's markets or sometimes a grocery store, but we prefer to just raise our own.

And it has proven very beneficial and helpful in this diet. Another large part of the diet is vegetables and it all has to be cooked. The first stage is just meat broth (soup) with a few select veggies on it. As you change through the 6 stages of the introduction diet, you slowly add in more vegetables, eventually fruits, casserole dishes, etc.

The diet is pretty strict, but it works to heal the gut. Anyone with a family member or kid who has food allergies, candida gut issues, or pretty much any other major health problem or gut issue, should try the GAPS diet. It's helped a lot of people! We've seen some changes from it and the "die-off" effects of the diet thus far.

One good thing out of it so far: Norayah used to get heartburn from lemon juice. Well, we introduced it in the diet last week and he has not had any heartburn yet! That is very promising.

A few good helpful links for the diet:
gapsdiet.com
gaps.me
GAPS Guide
GAPS help Yahoo! Group

I will share more information as time goes on, Lord willing, with recipes and more information.

Disclaimer: This post is compensated by a blogger campaign from Bucks2Blog. This has no affiliation or compensation from those who developed the GAPS diet, it is strictly compensated by those who want to encourage using natural beef.  All the views & opinions are my own.

Life On The Ranch: 4th of July!

Well, we had a busy, fun filled holiday weekend. I hope you all had a good 4th of July as well :)!

Sunday was the last soccer game of the season for my brothers & dad, so they have a few weeks off until the fall season starts.

The 4th was a busy day with fishing, swimming and then a neighborhood BBQ.

We had an all gluten-free, cow-milk (dairy) free BBQ. It was all delicious and there was so much food! And then of course we had a bunch of fireworks to shoot off once it got dark. It was such a beautiful evening for the party also. We're very blessed!

Heading down to the pond....

O & I fishing....

 

 

Yay! O caught a fish (with a little help :))...

O is holding the fishing rod here, you just can't see him...

 
Just a cool reflection picture ...

Once O caught his fish, he was done with fishing and just held the baby goat. Until he got warm and then he was ready to swim in the pool!

A couple of my sisters attempting to fish...

One of my brothers reeling a fish in on the other side of the pond...

And another one of my brothers bringing a fish over to the ice chest...

All in all, we caught 8 catfish!

Now, a few pictures from the BBQ & fireworks.

Cookies & candies made by my little sister...

All the food....

And then the desserts.

Homemade goat milk ice cream.

Homemade blackberry cobbler...

Of course we had Sparklers...

And then some of the bigger fireworks.