A Very Significant Birthday

This article came through one of the DS listservs I'm on and I thought I'd share :).

A very significant birthday
At 70, man with Down syndrome enthusiastic about life

Friday marked an important day in the life of a St. Joseph man and an accomplishment of modern society and medical care. Alan Walker, who has Down syndrome, celebrated his 70th birthday with a party at the United Cerebral Palsy building.

This may not seem significant, but in 1929, a mere 12 years before Mr. Walker was born, the average life expectancy for a person with Down syndrome was only nine years, according to the National Institutes of Health.

Fast track to 2011, and it is common for a person with Down syndrome to live to age 50 and beyond. In 2007, the Guinness Book of World Records said the oldest man with Down syndrome died at 67. But in 2008, they recognized a man who was 80.

“For adults with developmental disabilities, any birthday is significant, especially if you experience Down syndrome. The life expectancy is not high,” said Lindsay Williams, program specialist at UCP. “They’re living longer and that’s great, but their lives are enhanced as well.

“They’re not just living to an age. They’re experiencing everything that a person without a disability would.”

Mr. Walker has been attending the UCP’s day program since 1998 as one of the ways of enriching his life and letting him interact with as many people as possible. Workers and people who interact with him on a daily basis can’t hide their affection when talking about the 70-year-old man who wakes up every day with the enthusiasm of a schoolboy.

“He’s just excited about life,” said Jessie McQueen, who is staffed to work with Mr. Walker in his home, in addition to working with him at UCP. “If everyone was as excited about life as he is, we would have much better lives. He truly loves his friends and his staff and his friends. He’s just got a really big heart.”

His zest for life was on full display when Officer Henry Peña walked in the door at the UCP to surprise the birthday boy. Mr. Walker loves policemen, firefighters and basically anyone who dons a uniform. One worker recounted being with him and seeing a group of waiters that were decked out in black polo shirts and black slacks, and he lit up at the sight of them.

It looked like Mr. Walker’s whole body smiled when Mr. Peña walked through the doorway. Grinning ear to ear, he pointed at the officer and exclaimed “He’s my boy!”

When Mr. Peña offered to let him get into his Chevy Impala cruiser and turn on the siren and lights, Mr. Walker sprung up from his seat and scuttled across the room so quickly that some of the caretakers at UCP cautioned him to slow down and be careful.

“I like that feeling,” said Mr. Peña, who met him for the first time Friday. “I’m like ‘I can do no wrong!’

A police officer’s life is mostly negative contact with the criminal element and people that are upset with us.

“We love these types of events. It’s great for us as officers because we get to deal with something positive.”

Mr. Walker’s big day didn’t end at UCP with his 20 guests. He said he had plans to go out to dinner with all his friends Friday evening. When asked where they were dining, he quickly and happily boomed out “Olive Garden,” with the same zeal as he has for everything.

Will babies with Down syndrome slowly disappear?

Recently a new study came out with a more accurate (& safer) test to detect Down syndrome prenatally. Dr. Skotko posted on the Children's Hospital Boston blog regarding this new test and I thought I would share it.

It's sad that they would be looking to find a more accurate & safer test, because most of the time the tests are not used to help the child, but rather to abort the baby. As Dr. Jerome Lejeune said, he was disappointed that his research which found what caused Down syndrome was not being used to help these individuals, but rather to selectively get rid of them.

Yes, Dr. Lejeune's discovery of Trisomy 21 has been able to guide some research to find ways to help people with Down syndrome. But, the vast majority of Down syndrome research, is focused on ways to reduce & get rid of babies with Down syndrome.

Dr. Skotko has a sister with Down syndrome and has done a lot of study on prenatal diagnosis of Down syndrome.

Will babies with Down syndrome slowly disappear?

Written by Brian Skotko, MD, MPP

(Children’s Hospital Boston Clinical Genetics Fellow, Down Syndrome Program)

Last week a breaking study in the British Medical Journal offered a glimpse into our reproductive futures: soon, a non-invasive test will allow expectant mothers to know whether their fetus has Down syndrome.

Current prenatal tests for Down syndrome are invasive and can potentially cause a miscarriage, making them undesirable for many women. But now scientists have learned how to quantify the fetal copies of the 21st chromosome, the genetic basis for Down syndrome, with a simple blood test taken in the first trimester. These tests would be safer, faster, and, most likely, cheaper than anything available today.

While the research brings a scientific breakthrough, the prenatal tests also usher in a provocative question: will the births of babies with Down syndrome begin to decrease because of this testing? Since the new tests are non-invasive, researchers believe that the overwhelming majority of expectant parents will pursue such testing. And, with the tests being safer and cheaper than current methods, insurance companies will most likely have no problem defraying costs for anyone who wants one. As a result Down syndrome will most likely become a prenatal discovery for nearly all pregnant women. And, when prenatal testing does confirm that the child will be born with Down syndrome, more expectant parents will need to decide:  should we continue or terminate our pregnancy?

Part of their decision will be based on the information they receive about Down syndrome from their medical providers. Yet, the majority of medical students argue that they get minimal education on children with intellectual disabilities; and nearly half of obstetric fellows claim their residency training is “barely adequate” to “nonexistent” in terms of how to counsel would-be parents of a child with intellectual disabilities. Some physicians who do routinely deliver a prenatal diagnosis also admit to purposely describing Down syndrome in negative terms. Not unexpectedly, then, many mothers feel that they receive inadequate, incomplete and sometimes offensive information about children with this condition.

Currently, 92% of all women worldwide who receive a definitive prenatal diagnosis of Down syndrome choose to terminate their pregnancy. Based on those numbers, what does the future hold for the Down syndrome population once the new prenatal tests are available? The answer lies nestled in profoundly personal decisions, but still raises an important question, one that will be asked more and more frequently as other forms of prenatal testing come to the market: which forms of human genetic variation are valuable, and which are not?

Strengthening the Lips

While I talk a lot about strengthening the jaw when it comes to helping speech, working on the tongue & lips is also important. If you work on the jaw, the tongue & lips will improve. But, they still may need some extra nudging.

This is one exercise that we do regularly with O. It can be pretty hard to do and there are multiple levels of it.

Take a popsicle stick or a tongue depressor. Tongue depressors can be easier than popsicle sticks, as they are a bit wider. A lot of therapy supply stores sell tongue depressors.

We happen to use grape flavored ones, as that is the kind we got from one of the first ST's we had.

Place the tongue depressor in between the child's lips and have them hold it there. Make sure the child's lips are on it all the way. It takes a bit of concentrating sometimes to get O to have his lips fully on it & holding it.

There we go, this is a much better hold!

You can either just have the child hold the stick in between their lips. Or, you can step it up a notch and lightly pull on the stick to give some resistance. You can also tape a penny on each end of the stick to add some extra weight, which therefore makes a more interesting dynamic for the child to hold it in between his lips.

This will all help greatly with keeping the lips shut, help with tongue retraction & to also help decrease any drooling problems the child may have.

Book is back on Amazon!

The book, Down Syndrome: What You CAN Do (edited by Kim & Qadoshyah Fish, Foreword by Karen Gaffney, Introduction by Dr. Leichtman), is available now on Amazon.com.

Due to some technical difficulties it was unavailable on Amazon for a little while, but it is on there again!

This will help make it easier to get the book for some, especially those who are international. It is a little more expensive to order through Amazon when compared to LuLu or International Nutrition. But, I have no control over the price that Amazon sets.

Here is the direct link to the book on Amazon:

http://www.amazon.com/Down-Syndrome-What-You-CAN/dp/0615259162/ref=sr_1_1?ie=UTF8&s=books&qid=1294980527&sr=8-1

Since It's Flu Season...

With the colder months, typically comes a lot more sicknesses, especially the flu, croup and head & chest colds. Thankfully God's been very merciful to all of us this year and we haven't had a cold for several months.

Since some kiddos with DS can have a challenging time with the cold, due to their narrow airways, I thought I'd post an article from our book on certain things you can do to help combat the nasty chest congestion that some colds bring.

O struggled with croup and chest congestion from colds when he was little. But, thankfully, we were able to get him healthy again pretty quickly by using the things below. Especially by giving him Ridgecrest Herbals Clear Lungs. That made a huge difference for him when he was little and actually helped prevent him from getting very congested.

So, without anything more, here is the article.

Home Remedies for Croup
By Kim Fish

Croup is usually a viral infection that affects children under the age of six. It can appear suddenly or be the result of the common cold. The vocal chords will swell, usually at night, and result in a cough that sounds like a barking seal. If the child wakes up in the middle of the night while having a croup attack, it can be a very scary experience. The key is to try to keep the child (and yourself!) calm. The more the child cries, the harder it will be for him to catch his breath.

There were a few times, early on as a mom, that I called 911. This is not a bad thing, especially if the child is gasping for air. It is better to have some oxygen given to the child to stop the attack than to have something serious happen. I have also spent one night in a hospital with one of my sons with a serious croup attack, accompanied by stridors (a high pitched sound usually during inspiration that shows there is a blockage of the airway). During that night, I learned several things from the Respiratory Specialist about things to try out at home. Since then I have discovered several home remedies that can help with croup and there are a few things that can be done to actually help stop an attack that is in progress. Probably the most important thing to remember is to remain calm as the parent. If you are freaking out then this will not help the child to calm down.

Here are a few things to try DURING a croup attack:

A Hot Steamy Room: Sometimes taking the child into a small bathroom or shower stall with the water turned all the way onto hot will create enough steam to help the child to breath easier and in turn the child calms down. DO NOT put the child into the hot water, just hold him on your lap, and encourage him to calm down and breathe in the steam.
A Blast of Cold Air: Sometimes, just the opposite helps to stop an attack midstream. I usually wrap the child up in a blanket and walk outside into the cool air. I have spent many nights just sitting outside on a chair holding a child.
Molasses and Castor Oil: This is used when a child is having a croup attack. Mix 1-Tablespoon molasses with 1-teaspoon castor oil (this can be found cheaply in the pharmacy section of Wal-Mart). Mix together and spoon down being careful not to choke the child. I do not know the scientific reasons as to why this works, but it does.
Whiskey and sugar: Mix 1 Tablespoon of whiskey with 1 teaspoon (or more) of white sugar. Spoon it down. As in the remedy above, I also do not know why this one works but, it does.
If a child wakes up unexpectedly and has a croup attack then I do several of the ideas below for the next few days in order to help prevent another attack. Here are a few ideas for dealing with tight lungs, coughs, or croupy coughs:

These first two are what I do first for my family:

1. Onion packs - Slice a brown onion all the way down. Do not separate the rings. Place in between 2 pieces of thin material (an old t-shirt works good for this). Lay it on the chest with a hot water bottle or heating pad on top. It is usually more comfortable to be in a semi-reclined position (propped up with pillows).
2. Onion syrup - Slice a brown onion. Then make alternating layers of onion and brown sugar; maybe 3 or 4 layers of each. Place a lid on it and set it off to the side for awhile. After a few hours, there will be juice in the bottom of the pot. Spoon out some on a teaspoon or Tablespoon and take it. You can let it sit over night on the counter but after about 24 hours, strain out the liquid, and keep it in the fridge.
You can also do the following things:
3. Thyme tea - Take about 1 Tablespoon of this ordinary kitchen seasoning and place it in a coffee cup. Cover with boiling water, add a little honey if you like, and let steep for about 10 minutes. Strain out the thyme and drink the tea down.
4. Traditional Medicinal Throat Coat Tea - This can be bought at most health food stores. It's main ingredient is Slippery Elm, which is known for its soothing properties. You can also find just straight Slippery Elm tea, although it is not quite as tasty as the Throat Coat.
5. Water, Water and More Water - It is best to drink a sip of water every few minutes rather than chugging 8 ounces every hour. Continual hydration is key in keeping a cough at bay.
Other ideas:
6. Ridgecrest Herbals Clear Lungs - This is a capsule formula that can be bought at most health food stores (about $18 a bottle) or online (it is cheapest at www.luckyvitamin.com). But, if you are in a hurry, it is definitely worth the price. I have found this to work really well. Usually after 1 or 2 treatments there is a noticeable difference.
7. Vicks Vapo Rub - Great to put on when you don't have an onion pack on. Rub on the soles of the feet and put socks on the child. Works great!
8. Cool mist - The item to buy is called an Ultrasonic Cool Mist Humidifier. They go on sale sometimes at Wal-Mart for $30 or so. Set it up so that it can blow directly over the sick person's head while they are sleeping.
9. Cool mist in a tent set-up - For extremely tight chests and/or croup, place the humidifier in a small pop-up tent (2 man works well, set-up in the house). Zip the doorway halfway (or more) shut and create a tent of mist. Have the sick person sleep in it.
10. Cool mist with Hydrogen Peroxide added in - There is a lot of information about hydrogen peroxide treatments online. This will oxygenate the air coming out of the humidifier more. The amount is 2 cups of 3% Hydrogen Peroxide mixed into 1 gallon of water (distilled water is better for humidifiers but, if you do not have it on hand use normal faucet water).

Hopefully, some of these ideas will be beneficial. These ideas are not necessarily meant to replace the care of a doctor, but they are things that can be tried to help the child.

(P.S. You can get up to 30% off our book by a couple codes that are good in January. You can see the info & codes here.)

Recipe 12: Gluten Free Crepes

We have to be very careful with what foods we cook around this place, since there are so many food allergies in our family. We recently found out my 18 yr old brother has a corn allergy. So, we've had to cut out corn now too (which makes corn tortillas go out the window, at least for him!).

That makes it so that we cut out wheat & gluten, cow dairy (except for rare occasions for some of our family) & now corn.

Since we were eating a lot of corn via corn bread & corn tortillas, we had to make a few adjustments. The corn bread recipe we use, is now just rice bread. And it's actually really good (hopefully that recipe can come soon!). And, in place of corn tortillas, we make rice crepes. They are delicious and make a great sandwich (with lunch meat in them), a breakfast "burrito" (with eggs & meat) or even a taco. You can also add some sweetness to them by using fruit with some whipped cream or syrup as the filling in the middle.

So, here's the recipe.

Gluten-Free Rice Crepes
Makes 5-6 large crepes
(we triple or quadruple the recipe for our family)

Ingredients:
1 cup rice flour
1 cup water
2 eggs
salt, pepper, other seasonings *optional (they still taste great with  no seasonings)

Directions:

1. Mix all ingredients together well. The rice flour will be a little thick at first.

2. Using a ladle or measuring cup, pour the batter into a pan. A frying pan works best. Note: You will want to stir the batter before you put some in the pan each time. It settles and gets a bit separated if you don't.

Use enough batter so that you can evenly spread it out over the pan to make a decent sized crepe.

3. Once the top of the crepe starts looking "dry", it's time to flip it.

The bottom should be light brown after it's flipped. Leave it on the pan for just a minute or less, and then take it off.

 Both sides should look "done" and lightly brown.

Add some toppings and fillings into the crepe and you're done :).

2 nice rice "tortillas" .... I mean, crepes :). Enjoy!

Remember there is a printer friendly button at the bottom of each post :)!

Well, Well

I've got several things to post up here, but it's getting a bit too late tonight to do it. More tomorrow, Lord willing!

Goodnight!

A new Folinic Acid Study

This Folinic Acid study came through one of the DS listservs I'm on. It's a recently published study using high levels of leucovorin (which is basically Folinic Acid).

This study showed benefits with the FA, but there is one drawback. The doses used in this study were extremely high. Doses that would be very hard to achieve due for a couple reasons.

1) A prescription would be necessary for such high doses of Leucovorin (it's prescription FA used during chemo treatments to counteract the harmful effects of methotrexate).

2) It's very likely that a lot of people with DS would not be able to tolerate such high doses and it could actually cause more problems, due to methyl sensititivity.

Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status.

Abstract
BACKGROUND: Seven genes involved in folate metabolism are located on chromosome 21. Previous studies have shown that folate deficiency may contribute to mental retardation in Down's syndrome (DS).

METHODOLOGY: We investigated the effect of oral folate supplementation (daily dose of 1.0+/-0.3 mg/kg) on cognitive functions in DS children, aged from 3 to 30 months. They received 1 mg/kg leucovorin or placebo daily, for 12 months, in a single-centre, randomised, double-blind study. Folinic acid (leucovorin, LV) was preferred to folic acid as its bioavailability is higher. The developmental age (DA) of the patients was assessed on the Brunet-Lezine scale, from baseline to the end of treatment.

RESULTS: The intent-to-treat analysis (113 patients) did not show a positive effect of leucovorin treatment. However, it identified important factors influencing treatment effect, such as age, sex, and concomitant treatments, including thyroid treatment in particular. A per protocol analysis was carried out on patients evaluated by the same examiner at the beginning and end of the treatment period. This analysis of 87 patients (43 LV-treated vs. 44 patients on placebo) revealed a positive effect of leucovorin on developmental age (DA). DA was 53.1% the normal value with leucovorin and only 44.1% with placebo (p<0.05). This positive effect of leucovorin was particularly strong in patients receiving concomitant thyroxin treatment (59.5% vs. 41.8%, p<0.05). No adverse event related to leucovorin was observed.

CONCLUSION: These results suggest that leucovorin improves the psychomotor development of children with Down's syndrome, at least in some subgroups of the DS population, particularly those on thyroxin treatment.