Wednesday, February 27, 2008

Response to the study on Antioxidants in Down syndrome

Miriam, from the Einstein Syndrome site, posted part of her response to the recent study on Antioxidants in Down Syndrome.

It's a very informative article and can be found here, Just a waste of cash!

Monday, February 25, 2008

Coenzyme Q10 Supplemenation . . . beneficial

I happened to be run across this article today and I thought it was pretty interesting.

Coenzyme Q10 (ubiquinol-10) supplementation improves oxidative imbalance in children with trisomy 21.

Division of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center and University of Cincinnati Medical Center, Cincinnati, OH 45229-3039, USA.

Endogenous coenzyme Q10 is an essential cofactor in the mitochondrial respiratory chain, a potent antioxidant, and a potential biomarker for systemic oxidative status. Evidence of oxidative stress was reported in individuals with trisomy 21. In this study, 14 children with trisomy 21 had significantly increased plasma ubiquinone-10 (the oxidized component of coenzyme Q10) compared with 12 age- and sex-matched healthy children (historical controls). Also, the mean ratio of ubiquinol-10 (the biochemically reduced component):total coenzyme Q10 was significantly decreased. After 3 months of ubiquinol-10 supplementation (10 mg/kg/day) to 10 patients with trisomy 21, the mean ubiquinol-10:total coenzyme Q10 ratio increased significantly above baseline values, and 80% of individual ratios were within normal range. No significant or unexpected adverse effects were reported by participants. To our knowledge, this is the first study to indicate that the pro-oxidant state in plasma of children with trisomy 21, as assessed by ubiquinol-10:total coenzyme Q10 ratio, may be normalized with ubiquinol-10 supplementation. Further studies are needed to determine whether correction of this oxidant imbalance improves clinical outcomes of children with trisomy 21.

PMID: 18021919 [PubMed - indexed for MEDLINE]

Friday, February 22, 2008

Medical News: Vitamins Found No Help for Down's Syndrome Children

This is a new study that just came out. The full text can be seen at:

Of course, this doesn't change a thing with us! I know that giving my brother supplements has helped him tremendously!

I read the full text of the article and noted a couple interesting things.

The first quote here, they admit that they used low doses. They used some very low doses (5mgs of zinc, 10mcg of selenium, etc). I know, from experience especially, that higher doses of these nutrients are needed to see a benefit. I wonder if they checked the blood levels of zinc in these children? It didn't mention it in the full text. The only nutrient level tested, that was mentioned, was Vitamin E.

Also, in this first quote they admit that their low doses may not have been good enough to combat the biochemical issues in DS!

"One limitation of our study was the relatively low dose of supplements compared with commercially available preparations (Nutrivene-D and Euro TNI), which may have been inadequate to affect biochemical pathways."

I thought this was good too . . . In this second quote they admit that longer duration of supplementation may see effects.

"Our results do not exclude the possibility that subtle effects of supplementation on development might be detectable given longer term supplementation and follow-up."

Another thing I noticed is that they used RDA doses also, which is something that cannot necessarily be followed for those with DS. The reason being because the RDA is for "generally all healthy people," and therefore excludes those with something such as a genetic abnormality.

Vitamins Found No Help for Down's Syndrome Children

EXETER, England, Feb. 22 -- Children with Down's syndrome did not improve their development with the use of antioxidant vitamins, researchers here found.
Action Points

a.. Explain to interested patients that early vitamin supplementation for children with Down's syndrome may not improve development.

b.. Note that antioxidant supplements and folinic acid cannot be recommended for children with Down's syndrome based on the available evidence.
Psychomotor and language development scores were no better among British children with Down's given antioxidants or folinic acid (an active metabolite of folic acid) or both than among those who received neither, reported Stuart Logan, MBChB, of Peninsula Medical School, and colleagues online in BMJ.

Nor were biochemical measures of oxidative stress improved by the supplements in the randomized controlled trial.

Vitamin and mineral supplements marketed as holding substantial benefits for children with Down's are commonly used in the United States and Europe.

However, "parents who choose to give supplements to their children need to weigh their hope of unproved benefits against potential adverse effects from high dose, prolonged supplementation," the researchers wrote.

The lack of benefit from postnatal supplementation may not be surprising because Down's screening identifies differences between fetuses with and without trisomy 21 as early as 10 weeks' gestation, commented Tim Reynolds, M.D., of Queen's Hospital in Burton-on-Trent, England, in an accompanying editorial.

"Until evidence of any benefit of expensive vitamin supplements is available, they cannot be recommended," he said.

Developmental delay in Down's has been thought to result from oxidative neuronal damage, abnormal folate metabolism, or both, they said. The evidence, though, for nutritional interventions to counteract these effects has been poor, particularly in younger children, who had been thought to be most likely to benefit.

So the researchers undertook a well-designed study among 156 infants younger than seven months with Down's but no severe cardiac defects or other serious long-term illness.

They randomized the children to a daily oral dose of antioxidants (selenium 10 μg, zinc 5 mg, vitamin A 0.9 mg, vitamin E 100 mg, and vitamin C 50 mg) or folinic acid (0.1 mg) or both, or placebo.

All were given as a powder to be mixed with food or drink and were increased in dose by 30% after a child's first birthday.

After 18 months of follow-up, overall developmental scores as measured on the Griffiths mental developmental scales were similar between children given antioxidants and those who were not (mean 57.3 versus 56.1; adjusted mean difference 1.2 points, 95% confidence interval −2.2 to 4.6).

Likewise, developmental scores were similar for children randomized to folinic acid supplements or not (mean 57.6 versus 55.9; adjusted mean difference 1.7, 95% CI −1.7 to 5.1).

For language development after 18 months of follow-up, the number of words said or signed was similar for children given antioxidants versus none (ratio of means 0.85, 95% CI 0.6 to 1.2) and for those given folinic acid versus none (ratio of means 1.24, 95% CI 0.87 to 1.77).

Nor was there any difference in the age at which infants reached milestones in motor development.

Age at sitting without support was not significantly improved with antioxidants (hazard ratio 1.10, 95% confidence interval 0.77 to 1.56) or folinic acid (HR 1.25, 95% CI 0.88 to 1.78).

Standing did not start significantly earlier with antioxidants (HR 1.25, 95% CI 0.88 to 1.78) or folinic acid (HR 1.14, 95% CI 0.76 to 1.71).

To see whether the supplements could be having a subclinical effect, the researchers looked at biomarkers of oxidative stress in blood samples obtained blood at age one and urine samples.

Activity of antioxidant enzymes -- red cell superoxide dismutase and red cell glutathione peroxidase -- was not detectably different between treatment groups. Urinary isoprostane concentrations, a marker of lipid perioxidation, were also similar across groups, "indicating that supplementation did not affect oxidative stress."

The only short-term side effect in the study was an increase in vomiting among infants taking antioxidants (P=0.002), "but the side effects of higher dose preparations used over a long period are unknown."

Doses used in the study were at least 100% of the recommended daily allowance for all the vitamins and folinic acid, but still were relatively low compared with commercially available preparations, they noted.

"We were reluctant to use higher doses, as data on the safety of high doses for young children are lacking and high dose vitamin C may in fact exhibit pro-oxidant properties," Dr. Logan and colleagues wrote.

Monday, February 18, 2008

Couple with Down syndrome win contest, exchange vows

Couple with Down syndrome win contest, exchange vows

(February 18, 2008) - HENRIETTA - Cluster after cluster, relatives swarmed around Eric Neatrour and Christine Kurvits, leaning in for bear hugs and kisses on the cheek.

When it seemed that all of the adults had finished congratulating the couple, the flower girl crept up to Christine's side.

"You are going to be his partner?" asked Eric's 9-year-old niece, Elizabeth.

"Always," Christine replied.

On Sunday, Eric and Christine took the next step in their lives together, pledging their commitment to each other in a ceremony they had won.

As she watched her son read the vows he had written for Christine, Beverly Neatrour was overcome with joy.

"It just struck me that their love for each other is so innocent, that it's so genuine," she said.

Eric, 29, of Pittsford, and Christine, 24, of Victor, were born with Down syndrome.

"I never really thought this would be possible for her," said Jaak Kurvits, Christine's father, as he looked at his daughter in her white gown and thin silver crown, sitting next to the man she habitually talks about at home.

"It's Eric this, it's Eric that," said Kurvits, smiling. "It's constant."

The couple met three years ago when Christine enrolled in a program for people with disabilities at Cobblestone Arts Center, a nonprofit organization in Farmington, Ontario County. Eric said he was instantly taken by his new classmate.

"When I saw her face, I fell in love," Eric wrote in his essay to the Nuptial Network of Rochester, the group of wedding planners that awarded the ceremony at the RIT Inn and Conference Center.

The couple became friends, dancing together in their performing arts classes at Cobblestone.

Friendship soon became something more. Christine didn't want to have any other dancing partner.

"I had to keep saying, 'This is not a dating service. We have classes to go to,'" said Lorene Benson, executive director of Cobblestone Arts Center. But, Benson said, Eric and Christine are great students. They not only take care of each other but also watch out for classmates.

The pair began spending time with each other outside of class, at night and on the weekends. They would monopolize the Neatrour family living room with their board games. They would cuddle on the couch and watch American Idol and Dancing with the Stars. They would go out to dinner at Applebee's with Eric's older brother, Paul.

Then, last spring while sitting at home, Eric saw a flier from the Center for Disability Rights advertising a fundraiser being organized by the Nuptial Network of Rochester. The group was also advertising a $25,000 wedding giveaway to a couple with the best love story.

Eric asked his mother if he could enter. Why not, she said.

In June, she received a phone call from Sue Kurvits, Christine's mother. Eric had asked Jaak Kurvits for his daughter's hand in marriage. In September, Jaak received a phone call from the Nuptial Network, telling him that the group had chosen Eric and Christine over 25 other couples.

The two families decided that for now, a commitment ceremony would be more appropriate than a wedding.

And for now, Eric and Christine will each continue to live with their parents. They hope that maybe in a year or two they will be able find an apartment of their own, a place where they can be independent but also receive assistance when they need it.

Sarah Schleider, vice president of marketing and communications for the New York City-based National Down Syndrome Society, said that in each of the past few years, her organization has heard about two or three couples with Down syndrome who get married.

"It is becoming more common because individuals are living longer, living more fulfilling lives and living more independently," Schleider said.

After Sunday's ceremony ended and the guests had piled into the dining room, Eric and Christine took their place as they waited to be announced to the crowd.

Eric turned to Christine, took her hand and whispered.

"I want people to know that I won this contest for you," he said.

Friday, February 15, 2008

Article: 'Abortion is never an easy option: Why I aborted my first child'

What a terrible and sickening article!
She even admits that she killed her baby - "I pass Down's children on the street and think, 'I killed mine.'", but still says, "I remain certain that, for us, it was the right decision."

'Abortion is never an easy option: Why I aborted my first child'


YOU reader Katherine Mobey, 38, is a customer manager for a supermarket chain and her husband Neil, 35, is an operations manager for a recruitment company. Six years ago, they aborted their first child after it was diagnosed with Down's - a traumatic decision that took their marriage to breaking point. Here, Katherine tells their story...

Every mother can remember the moment when that blue line appears on the pregnancy test and, all of a sudden, you are contemplating a whole new future.

Neil and I had been married less than a year when, in 2001, I discovered I was expecting. We were so ecstatic, we immediately went out and bought three more tests - just to be sure.

The routine 12-week scan gave us the first sight of our baby and all appeared to be well. When we were offered the chance of another more detailed scan, we saw it as a bonus. There was no family history of complications, but it seemed wise to take every precaution.

The nuchal translucency scan - so called because it measures the nuchal folds at the back of the baby's neck to help detect Down's syndrome - was to be carried out at King's College Hospital in South London, and has to be done before you are 14 weeks pregnant.

My appointment was delayed when my GP surgery lost my notes and I made it just before the deadline.

The sonographer scanning me was calm and obviously experienced. I trusted her completely. But when she became quiet for a few moments, I knew instantly that something was wrong. She explained that my baby had exomphalos - a rare condition in which part of the intestine grows outside the body.

It was something that could be corrected by surgery, she said, but it could be an indicator of further problems. Neil was holding my hand. We were both in shock and I was crying. Four or five doctors poured into the room to look at the screen. I had become an exhibit.

A measurement of the nuchal folds revealed a one in 56 risk that my baby had Down's. To get a firm diagnosis, I was told I would need a chorionic villus sampling (CVS) test.

This involves taking a sample of amniotic fluid and can accurately detect Down's and other chromosomal abnormalities. We agreed to have it done there and then. By the time we left the hospital, it was early evening.

As I walked on to the street, I was physically sick. It had been such a shattering experience. Driving home, I realised my relationship with my baby had changed.

Every pregnant woman wants the little person growing inside her to be perfect - but my dreams had turned into a fearful vision.

Neil and I stayed at home for the four days it took for the CVS results to come through. In the three years we had known each other, we had been so happy. Now, for the first time, a black cloud was hanging over us.

It was mid-afternoon when the midwife called. As soon as she told me it was bad news, I broke down. The baby was seriously affected by Down's as well as the intestinal complications.

We didn't know what its life expectancy would be or what medical treatment it would need, but we did know that we would not be able to cope with a severely disabled child.

Going ahead with the pregnancy wasn't even up for discussion. Neil stayed strong and made all the necessary arrangements.

I saw a consultant the following day and talked through the abortion procedure.

The delay caused by my GP losing my notes meant that, at almost 16 weeks pregnant, I had passed the safe threshold for a surgical termination and would have to go through an induced labour.

The first step was to take drugs that block the pregnancy hormones and stop the baby's heart beating. I was booked to return a couple of days later for the abortion itself.

Neil and my mother came with me. At Farnborough Hospital (now replaced by the Princess Royal University Hospital) in Kent, I was put into the side room of a maternity ward.

I couldn't see what was going on around me, but I was aware of healthy babies being born nearby. A pessary was inserted to bring on contractions and I was moved into a delivery room.

Mum sat on one side of me, knitting, Neil rubbed my feet and I had gas and air and some pethidine to ease the pain. I was told the labour would take up to 16 hours; in the event, it was only six. The midwife had asked me at the outset whether I would want to see the baby when it was born.

My reaction had been, "Oh God, no."

I know a lot of people name and cuddle their baby.

But I couldn't do it - hold the dead and deformed being that had been inside me. I never even found out the sex, although I have always thought of it as a girl. In the years since, I have struggled hugely with the way I rejected my baby. I know it was a dreadfully unmotherly thing to do.

At the point of delivery, Neil and Mum left the room. On his way back, Neil saw someone taking away the baby in a bundle of tissue down the corridor – presumably to the incinerator. He often talks about that moment and it is extremely painful for him.

Afterwards – and I know this will sound bizarre – we were elated. Mum and Neil were saying, 'Well done,' and relief flooded over me. For Mum, it had meant losing a grandchild, but she was totally supportive of our decision – her priority throughout was me.

When I left hospital the following day, I was given a leaflet on miscarriage – a mistake, but one that made me feel very alone.

Friends and colleagues were incredibly kind - no one has ever criticised me - but it was hard for many people to understand fully what we had been through.

I returned to work after a couple of weeks, but couldn't concentrate and kept breaking down in meetings.

My employers agreed to let me reduce my hours temporarily and King's College Hospital referred me to a psychotherapist. I saw her on and off for two years, and without her I don't think I would be where I am today.

There were three conflicting emotions that I had to deal with.

First, the guilt at having rejected my baby was foremost and overwhelming. Second, I was battling with a massive sense of failure - I am the third of four children, my elder brother and sister each had two healthy children, and my younger sister Pippa had just announced she was pregnant.

I could hardly bear to be around her. Losing the baby had become the catalyst for a whole mass of deeply rooted emotions.

My family were all academic high-achievers. I had done well, but not as well as them.

And Neil was my second husband - my first, to a boy with whom I was at school, had ended disastrously after a year.

I felt like the black sheep - the one who couldn't even get having a baby right the first time round.

My third irrational but very real feeling was that my body had been contaminated by having a sickly child in my womb.

I was desperate to replace the baby we had lost but, looking back, it was too soon for Neil. He had had to be strong for me, but no one was taking care of him.

He needed time out, but I was pushing and pushing to try for another baby, and after eight months, I fell pregnant with our daughter Honor.

The pregnancy was fine, and tests showed nothing untoward, but that didn't stop me having panic attacks. My life was consumed by the baby "project".

When Honor was born, I couldn't quite believe my 'contaminated' body had produced a healthy baby.

I was so focused on being a good mother that I was probably overprotective, and Neil ended up feeling abandoned.

On the surface, we looked like any other happy new parents, but underneath there was a build-up of problems that we weren't addressing.

Both of us were still struggling to come to terms with what we had been through.

I had had the support of therapy and a network of friends and family; Neil had me, but now that we had Honor I wasn't so available for him.

When Honor was a year old he left, saying he needed a break. It was a terrible shock. Until then, I hadn't stopped to acknowledge how troubled things were between us.

More than anything we needed to talk. Splitting up forced us to do that. I listened hard and realised that the pain lived on inside Neil, just as it did in me.

A month later he moved back, and it was tough but we were determined to make it work. I hope we will be together for ever, but I no longer assume anything. I've learnt there are no guarantees.

After a lot of thought, we've decided against having another baby. Honor is now aged four and wonderful, but my pregnancies were dark days and we don't want to go back there.

I no longer feel a failure. I'm proud that I have such a lovely family.

Having Honor was the proof my psyche needed that my body isn't contaminated.

But the guilt, I realise now, I will have for ever. I pass Down's children on the street and think, 'I killed mine.'

I know they can be wonderfully loving. There is no escaping the reality of what I did, or the way I mentally rejected my baby. The hospital took photos, but I have never seen them, and it feels too late to go back there now.

Abortion can never be described as an easy option. I still cry as though mine were yesterday.

And yet I remain certain that, for us, it was the right decision.

Wednesday, February 13, 2008

An Interesting Thing To Note . . .

The study below is interesting. I've seen it before, but came across it again today and noted something in it that I hadn't noted before. The results of the study showed that in these patients with DS their zinc levels were low in plasma and urine. It says before this that the dietary intake of zinc was adequate ~

"The diet of both groups presented adequate concentrations of lipids, proteins, carbohydrates, and zinc."

-- I just thought this was interesting because a lot of people say, if they are consuming an adequate amount of these nutrients in foods from their diet, there's no need for a supplement, like TNI. It makes a point to show that getting an "adequate" amount of certain nutrients from the diet isn't always enough. Supplementation can't always be avoided.


Zinc nutritional status in adolescents with Down syndrome.

Studies have evidenced that zinc metabolism is altered in presence of Down syndrome, and zinc seems to have a relationship with the metabolic alterations usually present in this syndrome. In this work, the Zn-related nutritional status of adolescents with Down syndrome was evaluated by means of biochemical parameters and diet. A case-control study was performed in a group of adolescents with Down syndrome (n = 30) and a control group (n = 32), of both sexes, aged 10 to 19 years. Diet evaluation was accomplished by using a 3-day dietary record, and the analysis was performed by the NutWin program, version 1.5. Antropometric measurements were performed for evaluation of body composition. The Zn-related nutritional status of the groups was evaluated by means of zinc concentration determinations in plasma and erythrocytes, and 24-h urinary zinc excretion, by using the method of atomic absorption spectroscopy. The diet of both groups presented adequate concentrations of lipids, proteins, carbohydrates, and zinc. The mean values found for zinc concentration in erythrocytes were 49.2 +/- 8.5 microg Zn/g Hb for the Down syndrome group and 35.9 +/- 6.1 microg Zn/g Hb for the control group (p = 0.001). The average values found for zinc concentration in plasma were 67.6 +/- 25.6 microg/dL for the Down syndrome group and 68.9 +/- 22.3 microg/dL for the control group. The mean values found for zinc concentration in urine were 244.3 +/- 194.9 microg Zn/24 h for the Down syndrome group and 200.3 +/- 236.4 microg Zn/24 h for the control group. Assessment of body composition revealed overweight (26.7%) and obesity (6.6%) in the Down syndrome group. In this study, patients with Down syndrome presented altered zinc levels for some cellular compartments, and the average zinc concentrations were low in plasma and urine and elevated in erythrocytes.

Thursday, February 7, 2008

I was waiting for my baby to stop breathing, but.. he refused to die

God's mercy on this baby and showing once again that the doctors aren't always right.

It's sickening how the doctors encouraged the mother to abort her baby!!

I was waiting for my baby to stop breathing, but.. he refused to die

'Watching my newborn son's tiny chest rise and fall, I found myself breathing in sync as I waited for him to stop.

I couldn't stop crying because I had been told my time with him was limited. The moment I had dreaded was about to arrive.

My baby had a serious heart defect and doctors had warned that he would only live a short while after birth - just enough time for our family to hold him and say goodbye.

As the minutes passed, any joy at spending more time with Asher was tinged with agony. I froze at every movement from him, wondering if this was when he'd die. There was no point even hoping doctors had got it wrong.

I asked for a moment alone with him after dressing him in the blue sleep-suit I'd bought. "You don't have to keep fighting love," I whispered. I hated thinking of him in pain. But still, it felt wrong asking my baby to give up.

A scan at 34 weeks had shown the problem with Asher's heart. The doctor asked my ex-partner Rob Foley, 31, to be with me as they explained it may be Down's Syndrome.

An appointment was made for me go down to London and see a specialist the next day. That night I felt sick with panic. Rob and I had split a few weeks into my pregnancy and I'd lived alone with our daughter Jada, now five.

If my baby had Down's Syndrome, I worried how I'd cope.

Rob joined me the next day as doctors said my unborn baby had congenital heart problems.

"There's nothing we can do," the doctor explained. "We believe your baby will die shortly after birth."

Devastated, I couldn't speak. I was offered an injection to end his life but shook my head.

"I want to meet him," I said. "Even if it's only for a few minutes."

An amniocentesis later revealed my son didn't have Down's Syndrome. Having no obvious reason for his heart condition made it harder to come to terms with.

When I went into labour it was dread, not excitement, I felt. I knew I'd lose him when he was born but while he was in my womb I could keep him safe.

Before leaving for hospital, I tucked the sleep-suit in my bag. Along with some teddy bears, it was the only thing I'd bought for him.

However much it hurt, I had to be realistic. My baby didn't need a wardrobe of clothes or toys. He just needed something to be buried in.

Rob, Jada, Mum, my sister Samantha and some of Rob's family came with me to hospital.

The doctors wanted to break my waters. But my dad wasn't there as he'd been working nights. I begged them to hold off until he arrived. I couldn't bear the thought of him missing his grandson's precious few minutes. Before long Dad was by my bedside, clutching my hand. We knew then it was time.

Asher was born weighing 7lb 7oz. As the nurse placed him in my arms, I wept at the sight of his blue-tinged face. We'd been warned about that but to my surprise, after a few minutes, his cheeks turned pink.

My heart raced watching him taking one breath after another, dreading the one which would be his last. The room was frozen in silence.

I passed him over to Rob. I watched him hold the son he knew couldn't live.

As minutes ticked by, everyone took their turn to hold Asher - even Jada.

Everyone wanted to hold him but no one wanted to be cradling him when he finally stopped breathing.

While Dad was cuddling him, he started to panic. "He's stopped breathing," he gasped, thrusting him back at me. This was it. Those few precious minutes were all we'd have.

Suddenly, Asher took another breath and the relief knocked me for six. He'd started breathing again.

As minutes passed, Asher kept taking breath after miraculous breath. I was so wrapped up in him, I had no idea how much time had passed. Then Samantha said: "It's been six hours and he's still alive. Speak to the doctors."

I felt a wave of hope. Maybe they had got it wrong? After examining Asher, the doctor arranged for him to be seen by specialists that night.

But after more tests there, we were dealt another blow. He was only alive because his heart duct was abnormally large.

It would eventually close over and he would die. There was still nothing they could do for him. "But he's made it this far," I pleaded.

"He looks well, but it's only a matter of time," the doctor explained.

Devastated, we began the wait for Asher's heart to give up, too terrified to leave his side.

But after five days, he was still thriving and we were moved to a local children's hospice.

We'd been told Asher would survive minutes, maybe hours - not days.

If our baby was fighting, I had to fight too, so I grilled the doctors.

After two weeks, I demanded a second opinion. Finally, a consultant at Birmingham Children's Hospital agreed to see whether Asher was eligible for the Norwood Procedure - open-heart surgery to improve the defect.

Dad drove us but just 30 minutes into the three-hour journey from our home in Norfolk Asher started turning blue. Pulling over, I was faced with an awful decision. Turn back and risk having no one to help him or try making it to Birmingham to give him a chance.

"He's fought this far," I said. "We can't give up on him now." So Dad sped us to Birmingham as we prayed Asher would hold on.

Doctors hurried through tests then explained if Asher responded to medicine to open his heart duct then they'd operate. It was the first time since Asher was born that anyone had been positive and two days later came the news I'd prayed for.

Asher had responded well to the drugs and was ready for surgery. He was barely a month old when doctors fitted a shunt in his heart and opened up the valve on the right side. For six days we had an agonising wait as Asher lay in intensive care.

When he was moved to a normal ward, I could hardly believe it. Asher had to stay in hospital for more surgery four months later and we went through more ups and downs.

Then when Asher was seven months old, Dad drove us home.

He's not out of the woods yet. He'll need more surgery and one day will require a heart transplant.

He has now celebrated his first birthday and, looking at him, it's hard to believe he was given only hours to live.

Update on Petition

The petition can be signed by family members, friends, teachers, doctors, therapists, etc, not just parents of children with DS.

Please sign this petition and forward to family members, friends, teachers, medical professionals and therapists of children and adults with Down syndrome.

On March 21st we encourage everybody who has signed this petition to print it and take it to their OB/Gyns to encourage them to provide accurate information to their patients who receive a prenatal diagnosis, and make sure they know of the resources currently available to them.

Tuesday, February 5, 2008

Down Syndrome Advocacy!

This was created by one of the yahoo DS groups I am on, so I thought I'd post it here.

Please Sign and Forward the Online Petition if you are a Parent of a Child
with Down Syndrome. click this link:

The text of the Petition that will be sent to the National Down Syndrome
Society and the National Down Syndrome Congress on World Down Syndrome Day 3-21
March 21, 2008. The deadline to sign the petition is March 20, 2008.

Know that this is not about the legal right to an abortion, it is about the right for parents to have complete information in which to make a decision. That information is not currently provided for, and until our National Organizations advocate for the fetus by taking a stand with ACOG to educate their physicians on how to deliver the diagnosis with the proper BALANCED information parents will continue to be making decisions without all of the information they need.

The Petition reads:
We, parents of children with Down Syndrome are appalled and offended by the
discrimination that the American College of Obstetricians and Gynecologists
(ACOG) has shown in recommending prenatal screening for Down syndrome for
all pregnant women, regardless of age.

It is very well known that Down syndrome cannot be corrected in utero, and
preparation emotionally could be a very valid reason for the prenatal
testing of all women, but in reality, it is clear that the purpose of first
trimester screening is not to provide time for parents to prepare for the
birth of a child with Down syndrome, but to enable and encourage parents
to terminate a pregnancy once a diagnosis of Down syndrome is obtained.
Research has shown that ACOG has provided no education to the physicians
on how to deliver a prenatal diagnosis, and has provided NO information on
the life realities of raising a child with Down syndrome, and, as a
result, the majority of expectant parents are being put in the position of
having to make decisions regarding their unborn child based on inaccurate
and unnecessarily negative information. This leads to the astronomical
statistic of 90% of the babies being aborted! This is, quite simply,

The true purpose of ACOG's recommendation is to prejudicially eliminate
babies with Down syndrome. We parents believe that the National Down
Syndrome organizations need to take a stand on the abortion issue, not as it
relates to the laws in our country, but as it relates to Down syndrome.
Advocacy on behalf of individuals with Down syndrome needs to begin at
conception, not at birth.

Learning Deficit Blocked in Mouse Model of Down's

This is pretty promising research!! Hopefully it can be redone in persons with DS.

SMFM: Learning Deficit Blocked in Mouse Model of Down's

DALLAS, Feb. 4 -- The learning deficits of mice with trisomy 21 appear to have been prevented with a peptide combination, investigators said here.

After nine days of treatment, adult mice with the model of Down's syndrome navigated a water maze test as easily as a control group of animals and significantly better (P<0.001)>

Ten days after stopping the peptide treatment, the water maze performance of treated animals had deteriorated to the level of untreated trisomic animals, suggesting a need for ongoing therapy, she said at the Society for Maternal-Fetal Medicine meeting.

The results have sparked anticipation about the peptides' use in patients with Down's.

"[One of the peptides] has already gone through all the toxicology studies and is in phase II clinical trials for Alzheimer's disease," said Dr. Spong. "The hope would be that potentially this would have application in other things as well."

Newborns with Down's syndrome have altered levels of vasoactive intestinal peptide, which releases and regulates multiple neuropeptides, including the neuroprotective peptides known as NAP and SAL, said Dr. Spong. Previous studies showed that administration of NAP and SAL to trisomic mice during pregnancy prevented developmental delay.

In the current study, investigators examined the potential for NAP plus SAL to prevent learning deficits in adult trisomic male mice given either NAP plus SAL or placebo. Their learning ability was assessed by means of a Morris water maze, which requires animals to use visual cues to locate a platform hidden in a pool of water.

Beginning on day four, the animals had four water maze trials daily for five days. The time required to locate the platform reflected spatial learning. On days nine and 10 the animals underwent a test of memory retention, determined by the amount of time a mouse stayed in the water pool quadrant where the hidden platform had been placed.

During the five days of testing, the performance of trisomic mice treated with NAP plus SAL did not differ from that of the control group (P>0.05) and was significantly better as compared with untreated trisomic animals (P<0.001).>

On treatment day nine, the treated trisomic animals averaged about 10 seconds in the correct quadrant of the water pool, which was not different from the control animals, whose time in the correct quadrant averaged about 10 seconds. In contrast, untreated animals were in the correct area for only about four seconds of the timed test.

Ten days after stopping treatment, the mice repeated the memory retention test. Control animals remained in the correct quadrant of the water maze for about 14 seconds, whereas the treated and untreated trisomic animals had almost identical times of about eight seconds.

Two other preclinical studies reported at the SMFM meeting provided insights into the underlying mechanisms involved in preventing memory deficit in the Down' syndrome model.

One study showed that treatment with NAP plus SAL significantly (P=0.02) increased expression to control levels of the N-methyl-d-aspartate subunit NR2A, which was decreased in trisomic mice compared with controls (P<0.05).>

In the second study, investigators showed that treatment with NAP plus SAL prevented dysregulation of vasoactive intestinal peptide (increased levels compared with control, P<0.05)>P<0.05)>P<0.05),>

Primary source: Society of Maternal-Fetal Medicine
Source reference:
Toso L, et al "Prevention of learning deficit in a Down syndrome mouse model" Am J Obstet Gynecol 2007; 197(suppl): S3. Abstract 6.

Additional source: Society of Maternal-Fetal Medicine
Source reference:
Vink J, et al "Learning deficit prevention by NAP&SAL includes NMDA receptors in Down syndrome model" Am J Obstet Gynecol 2007; 197(suppl): S129. Abstract 433.

Additional source: Society of Maternal-Fetal Medicine
Source reference:
Vink J, et al "Prevention of Down syndrome learning deficits mediated through neuroprotective peptides, vasoactive intestinal peptide (VIP) and activity dependent neuroprotective peptide (ADNP)" Am J Obstet Gynecol 2007; 197(suppl): S174. Abstract 606.

Time Flies By . . . He Struggled To Catch Up, But Has Finally Passed Her By!

My brother has just turned 3 years old. It is amazing how fast time flies by. I so vividly remember that day he and his twin sister were born . . . it forever changed our life!

He and his twin sister were born with only an ounce different in their weight. He was 5 lbs, 13 oz and she was 5 lbs, 12 oz.

That quickly changed. She would be discharged from the NICU just 6 days after their birth, but he wasn't discharged until a week after her (they were 2 weeks old). It was all because of his lack of weight gain.

Over the course of the next few months, we would take trips to the pediatricians for "weight checks" to see how much he had gained . . . or lost. We did all we could and researched all we could to find out how to help him gain weight. Some things seemed like they may have helped some, but some did not help much. The doctors always told us "it's just the Down syndrome," they had no answer. They wanted my mom to stop breastfeeding him and to put him on a "high calorie" formula to make him gain weight. Okay, so take him off of the breastmilk that is extremely beneficial for him, nutritionally & physically, and put him on something inferior to make him gain weight?! No thanks, we didn't do that. He started to slowly gain weight with the breastmilk and all the techniques we were trying.
We weighed him daily at our home and kept accurate records to see how much he'd gain. It was a triumph when he would gain a couple ounces a week! Finally the docs said he was doing okay.

By the time he was 8 months old he was still much smaller, by 4 or 5 pounds, than his twin sister. Then, we found the answer . . . it was again by lots of searching and looking for information.

Nutrivene-D was the answer. Within just a month he had noticeably gained a lot more weight than he had been gaining. It would take the time of a few more months until he started to really catch up to his twin sister. Dr. L encouraged us to start my brother on the NightTime Formula when my brother was a year old. That made a huge difference in my brother! He has grown so much since starting him on it!

I happened to be looking at the dosages on the NightTime Formula bottle the other day and I thought, "I bet he needs to take a whole capsule, instead of the half he's been taking." So, I weighed him last night and sure enough, he is in the range of where he needs to take a whole capsule instead of the half of a capsule. Tonight, my curiosity was up so I weighed his twin sister and guess what . . . my brother weighs TWO POUNDS MORE than his twin sister!!! She's 26 lbs and he's 28 lbs.

He started off just an ounce heavier than her, he struggled for a year or a year and a half to catch back up to her and now he weighs 2 pounds more than her! It is awesome. I know without Nutrivene-D my brother would not be so well off! We are forever grateful that we learned about it when we did!

Thanks for letting me share another bit of our wonderful journey :)!

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