Our book is finished!

We are finally done with our book and it is published! After many delays and problems getting it published, it's done.

The book is $22.73 for the printed version and $5 to download as an e-Book. The proceeds (which are very small) from the sales of the book will go towards purchasing more books to be able to get these into the hands of doctors, hospitals & the public. We also hope to make some brochures about the book for Down syndrome associations and for public awareness.

The finished product can be bought from and seen at http://stores.lulu.com/gotdownsyndrome. A 15 page preview of the book can also be seen at this link.

We hope this book will be a great resource for many parents, families, friends, doctors & professionals.

~ Qadoshyah

Book Update!

Wow, a lot of time has gone by since I last updated about the book!! We have had several delays to finishing our book, but we are almost completed now. Our move to Oklahoma caused a big wave in the progress of our book, but we are caught back up.

The book is 589 pages long and it has come together beautifully! I am just in the final stages of getting the book published and then it will be available to all! We look forward to being able to get the positive side of DS out there as much as possible. We already have a lab office that would like to keep a copy of one of our books, since they get a lot of patients with DS! Hopefully we can get it into the hands of many doctors, hospitals, professionals and parents.

See more about the book at www.gotdownsyndrome.net/Book/whatyoucandobook.html

Qadoshyah

More on the CBS gene overexpression

While searching PubMed, I ran across another study showing the biochemical imbalances in DS. Several of the things they found in this study show the over expression of the CBS (cystathionine-beta-synthase) gene.

[Biochemical alterations in patients with Down syndrome]

Down syndrome is a chromosome abnormality with specific clinical symptoms and mental retardation caused by trisomy of chromosome 21. The basic genetic change cannot be cured, the control of the associated symptoms, however, may improve the patients' quality of life. AIMS: Authors studied the possible correlations between the Down-specific genes and the related biochemical changes. Expression of superoxide dismutase, cystathionine-beta-synthase and S100 protein was investigated. Further aim of the study was to determine the total serum antioxidant capacity (transferrin, ferritin, total protein, albumin and bilirubin) along with the extracellular antioxidants as well as concentrations of homocysteine, folic acid, and vitamin B 12 . To assess the vascular damage, the activity of NAG and S100B level was measured. METHODS: Standard laboratory methods were used to determine the antioxidant capacity (Stocks, 1974), homocysteine (HPLC), folic acid (capture, IMX-Abbott), vitamin B 12 (MEIA, IMX-Abbott), S100 B protein (chemiluminescence sandwich immunoassay) levels, and N-acetyl-beta-D-glucosaminidase (spectrophotometry). RESULTS: Plasma homocysteine value proved to be lower in 7 of the 30 and higher in 6 of the 30 patients studied than the reference range. Plasma homocysteine was found 95 +/- 21% of the reference value. Relative value of plasma folic acid - expressed in percent of the normal value - was 85 +/- 51%, and that of B 12 was 78 +/- 30%. Deficiency of folic acid was detected in 2 of the 30, decreased level of B 12 in 2 of the 30 patients enrolled. No difference was found in antioxidant activity values between Down syndrome patients and healthy controls, however, neither of them reached the adult reference range. S100 protein concentration of 4-8 times higher values (average value: 0.68 +/- 0.27 microg/l) than upper limit of the reference range was observed (> 1 year: > 0.15 microg/l). Mean value of serum N-acetyl-beta-D-glucosaminidase remained within the reference range (10-30 U/l). No statistically significant correlation between the antioxidant activity and N-acetyl-beta-D-glucosaminidase values could be observed. CONCLUSION: The lower homocysteine, folic acid and B 12 values may be considered as the consequence of an increased cystathionine-beta-synthase activity ("atheroma free model"). There was no significant alteration in antioxidant activity level. It can be supposed that the hydrogene peroxide produced due to increased expression of superoxide dismutase is metabolized by the induced glutathione-peroxidase and catalase keeping by this the balance of the antioxidant system. This hypothesis is supported by the normal N-acetyl-beta-D-glucosaminidase values not indicating any vascular damage. The high S100 values, however, reflect certain brain damage which shows a progress with the age. Based on these experiences, regular control of these parameters is recommended. Furthermore authors think that folic acid supplementation is indicated in order to improve the patients' learning capacity, inhibit the development of Alzheimer symptoms and improve the quality of life.

~ Qadoshyah

Glutathione & oxidative stress

It is known that there is an increase of oxidative stress in Down syndrome due to over expressions of certain genes. There is also a decrease of glutathione due to over expressed genes. I happened to come across a study today while I was searching PubMed that was done in April 2008. It is called, A mathematical model of glutathione metabolism. This study was done at Duke University.

In the conclusion in the abstract it states,

"The model shows that overexpression of genes on chromosome 21 and an increase in oxidative stress can explain the metabolic profile of Down syndrome."

I thought this was interesting. It shows one of the mechanisms and reasons why glutathione is low in DS. The full text of the study can be seen here.

~ Qadoshyah

Bill Passed House & Senate - Prenatally & Postnatally Diagnosed Conditions Awareness Act

BROWNBACK, KENNEDY CELEBRATE PASSAGE OF PRE-NATALLY AND POST-NATALLY DIAGNOSED CONDITIONS AWARENESS ACT

WASHINGTON – U.S. Senators Sam Brownback (R-KS) and Edward M.
Kennedy (D-MA) celebrated Senate passage of the Pre-natally and Post-
natally Diagnosed Conditions Awareness Act, legislation which would
require that families who receive a diagnosis of Down syndrome or
any other condition, pre-natally or up until a year after birth, be
given up-to-date information about the nature of the condition and
connection with support services and networks that could offer
assistance.

"I am very pleased that the legislation co-sponsored by Sen.
Kennedy and me passed the Senate," said Brownback. "This bill will
greatly benefit expecting parents who receive the sometimes
overwhelming news that their unborn child may be born with a
disability. This legislation will provide parents with current and
reliable information about the many options available for caring for
children with disabilities."

The Pre-natally and Post-natally Diagnosed Conditions Awareness Act
would provide for the expansion and further development of a
national clearinghouse on information for parents of children with
disabilities, so that the clearinghouse would be better equipped to
assist parents whose children have recently been pre- or post-
natally diagnosed. The bill also provides for the expansion and
further development of national and local peer-support programs.
The bill also calls for the creation of a national registry of
families willing to adopt children with pre- or post-natally
diagnosed conditions.

"One of the hardest moments in the life of an expectant mother is
when she receives news that she is going to have a child with
special needs," said Melissa Wagoner, spokeswoman for Senator
Kennedy. "Access to the best support and information about the
condition, and the quality of life for a child born with that
condition, can make all the difference to a woman trying to make an
informed and difficult decision. Senator Kennedy believes this kind
of support is a vital element to strengthening a true culture of
life in America."

Currently, 90 percent of children pre-natally diagnosed with Down
syndrome are aborted. That percentage is similar for children pre-
natally diagnosed with other conditions such as spina bifida, cystic
fibrosis and dwarfism.

Serbia's mental institutions . . .

There has been a lot of talk on various adoption blogs about the Dateline special on Serbia's mental institutions. I watched it and it is truly horrific. You can watch it here (http://www.msnbc.msn.com/id/26332429)

The people & children in these institutions are not treated like humans. They are tied to cribs for hours at a time, they are fed a very small amount. Yet, the Serbia government tells parents that these institutions are better for these children than their parents who could raise them.

This really got to me and it is very sad and if I think about it too much, I will cry. As I was watching the Dateline video, I was holding my little 3 1/2 year old brother. He was sleeping on my lap. He is such a joy and a blessing to have in our family. God has truly blessed us with him.

My brother thrives greatly . . . he runs & jumps, laughs & plays with his siblings, and acts like any other toddler. The children in these institutions could have achieved many of the milestones that all toddlers have to achieve, if they were given the appropriate affection, love & care. But, now you have no idea what these children could have accomplished, because they have just laid in a crib, with hardly any attention & care, for their whole life . . . whether it be 4 years, 11 years, 21 years, etc.

~ Qadoshyah

Hi & more

I'm sorry I haven't updated the blog much at all the past few months. We have been extremely busy with our move from California to Oklahoma. Things are going well though :).

Richard from the DSTNI yahoo group posted this abstract earlier today and I thought it was pretty interesting. I'd like to see the full text of the study!

Serum cholinesterases in Down syndrome children before and after nutritional supplementation.

INTRODUCTION: Down syndrome (DS) children have different degrees of developmental abnormalities associated with mental retardation. A cascade of pathological changes triggering alterations in cholinesterase-mediated functions seems to be the cause of neuronal and muscular dysfunctions, such as memory loss, disturbed cognitive skills, and language impairment in virtually all DS individuals, but there are currently no efficacious biomedical treatments for these central nervous system-associated impairments. The present study aimed to evaluate the effects of nutritional supplementation on cholinesterases in serum of DS children. METHODS: Activities of acetyl- and butyrylcholinesterase were analysed in the serum samples of 40 DS children, along with an equal number of age- and sex-matched controls under study. RESULTS: The activities of serum acetyl- and butyrylcholinesterase were found to be low in DS children before nutritional supplementation, compared to controls, and showed considerable improvement after six months of supplementation of zinc in combination with antioxidant vitamins and minerals. A significant improvement was also observed in cognitive skills and behavioural patterns after nutritional supplementation. CONCLUSION: The present pilot study suggests the significance of early intervention with nutritional supplementation in DS children to ameliorate the severity of this disorder.

McMinnville woman with Down syndrome 'beats the odds' at 73

McMinnville woman with Down syndrome 'beats the odds' at 73

By CLAUDIA PINTO
Staff Writer

When Mary Perry was born with Down syndrome in the 1930s, people with the disability typically didn't live past age 9.

At 73, the McMinnville woman has managed to outlive all but one of her eightbrothers and sisters. She is one of the oldest living people with Down syndrome.

"She beat the odds," said Dr. Karen Summar, a developmental pediatrician at Vanderbilt children's hospital. "It's incredible."

The 2007 Guinness Book of World Records lists the oldest living woman with Down syndrome as Nancy Siddoway, of Utah, who was born on Aug. 18, 1937, and the oldest living man with Down syndrome as Keith Roberts, who was born in South Africa on June 6, 1953. Perry was born on June 9, 1934.

Dale Perry attributes his aunt's old age to her strong will.

The way her relatives tell it, in Mary's youth she could run "like a jackrabbit." She cleaned house. She "took care of her own bathing."

All of that changed for Mary Perry in adulthood, when her mother fell and broke her hip. From that day on, "Mary couldn't walk no more," said Jackie Perry, who met Mary Perry in 1956and went on to marry her brother.

The doctors never could find anything wrong with her legs, and she has spent the rest of her life in a wheelchair.

"It was one of those mind things," Jackie Perry said. "After she quit walking, she would say, 'I'm my momma's baby girl.' "

Dale Perry said his aunt "willed herself" to never walk again and he believes she tapped into that same strong will to live as long as she has.

Life span jumps to 55

While Perry's longevity is extraordinary, medical advances that have occurred since the 1980s have dramatically increased the life span of people with Down syndrome.

"In the future, it won't be so remarkable," Summar said. "This will become more routine, instead of the exception."

Down syndrome, caused by a chromosomal abnormality, causesmental disabilitiesand a host of medical conditions, including heart and respiratory problems. When Mary Perry was born, medical treatment either didn't exist or was not offered to this population.

Today, many of the medical conditions associated with Down syndrome can be treated. As a result, people with Down syndrome have an average life span of about 55, compared with roughly 25 in the 1980s.

"When Mary was born, they didn't have effective treatment," said Dr. Kuang-Tzu Lin, a physician specialist at Clover Bottom Developmental Center, a state-run home for people with disabilities in Nashville. "They were not too eager to pursue available treatment because there was no cure. People's concept is much different now."

Summar said the increasing life span has huge policy implications.

"There are going to be more and more people with Down syndrome living to this ripe old age," she said. "They will outlive their parents. Who will take care of them when their parents pass on? We've got to be thinking of what's ahead."

Treated like her siblings

In the 1930s, it was the standard for babies with mental or physical disabilities to be hidden away in institutions, but that wasn't the case with Mary Perry.

More than medical advances, Summar believes the care and love she's received from her family have helped her live so long.

"Being raised at home, she had proper nutrition," Summar said. "She wasn't in the crowded environment of an institution. Contagious illnesses would sweep through those places."

Her relatives say she was dearly loved and was treated just like all her other siblings growing up on the farm. But Mary Perry's mother experienced decades ago what's just becoming commonplace today.

After she fell and broke her hip, Mary Perry's elderly mother, Delia, could no longer physically take care of her 37-year-old daughter. So, Mary Perry went to live at Clover Bottom.

Renee McCormick, Mary Perry's niece, said she remembers her coming to visit the family when she was little.

"She touched my heart years ago," Renee McCormick said. "She didn't want to leave her mother."

Being a small child herself, McCormick could relate to the feeling. After a while, Mary Perry got used to her new surroundings and didn't want to go back home.

A lovely, lively lady

At Clover Bottom, Mary Perry came to be known by employees as the "Queen of the Clinch Home," after the dorm where she lived. She liked to spend her days relaxing on a recliner and looking at pictures in fashion magazines, Lin said.

"She is a very lovely lady," Lin said. "Always smiles. Always says, 'I love you.' "

But she had a wild side, too. "She was just constantly flying around in that wheelchair," Dale Perry said. "Something sparkled with her."

Mary Perry has slowed down of late. She suffered several mini-strokes and though she's conscious and moving her arms, she's not talking, Lin said. Last week, Mary Perry moved to a nursing home in McMinnville. She was reunited with her only living sibling, a sister, who also lives in the nursing home.

"We don't know how much time we have with her," Dale Perry said. "It could be a week. It could be six weeks."

But Dale Perry said he wouldn't put it past his aunt to surprise them all.

http://tennessean.com/apps/pbcs.dll/article?AID=/20080429/NEWS07/804290359

Sorry haven't been around too much . . .

Sorry I haven't posted more on here. We have been very busy lately with many things right now. We are really trying to finish writing the book and we have also been busy dealing with moving (we will be moving to Oklahoma the end of Summer, Lord willing).

More later . . .
~ Qadoshyah

In-Utero Vitamin B6 Deficiency

I just happened to be looking through PubMed (yep, something I like to do every few months ;)) and ran across this abstract about a Vit. B6 deficiency in-utero. Thought it was interesting.

Qadoshyah

Pyridoxine-related metabolite concentrations in normal and Down syndrome amniotic fluid.

Baggot PJ, Eliseo AJ, DeNicola NG, Kalamarides JA, Shoemaker JD.

Hollywood Presbyterian Medical Center, Los Angeles, CA, USA. pjbaggot@hotmail.com

INTRODUCTION: Some studies of children with Down syndrome have found mild abnormalities in the metabolism of pyridoxine (vitamin B(6)); therefore the present question is whether such abnormalities might also be present in the amniotic fluid of fetuses with Down syndrome. MATERIALS AND METHODS: Archived specimens of amniotic fluid were obtained from chromosomally normal and from fetuses with Down syndrome. Gas chromatography/mass spectrometry quantitized B-related metabolites, including oxalate, xanthurenate, kynurenine and 4-pyridoxic acid. RESULTS: Oxalate, a marker of pyridoxine deficiency, was elevated in the amniotic fluid of fetuses with Down syndrome. This result was statistically significant. The other marker results were not statistically significant. CONCLUSION: A marker of pyridoxine deficiency, oxalate is elevated in the amniotic fluid of fetuses with Down syndrome. These results in amniotic fluid are consistent with previous studies done in the urine of young children. (c) 2008 S. Karger AG, Basel.