Alex . . . a young girl with a mystery diagnosis

Cross-posting this information incase there is anybody who can help this girl. Feel free to pass a long to anyone you may know!

-------------------------------------------------------------

From the Spencer Daily Reporter

Alexandria “Alex” Hermstad before.

This was written by the family of Alexandria “Alex” Hermstad, a teenage Storm Lake, Iowa girl who has lost all movement of her body in an undiagnosed illness. How can you help? Print it out, send it to a doctor, a hospital, a university medical school, a media company, the White House. The Hermstad family is praying that somehow, somewhere the story will reach someone who may have an answer. The story is written from Alex’s viewpoint.

Hi, my name is Alexandria Hermstad, but everyone calls me Alex. I have an identical twin sister named Jaci and we are 15 years old. I was always healthy but for almost four years now, I have been fighting an illness that nobody seems to know what it is or why it is happening to me. I live in Storm Lake, Iowa and I am paralyzed. I have to use a ventilator to breathe through a hole in my throat which sometimes gets plugged and I can’t breathe. I cannot swallow food anymore so my diet consists of liquids through a tube in my stomach. My mind still works fine and I understand everything that is going on around me. I can’t speak either, so my mom is helping me to put my feelings on paper.

Jaci and I used to love playing sports, riding horses and snowmobiling. When I turned 11, I began having trouble moving my left arm. By the end of the year, I could no longer walk. We were told to leave our house because the cause might be environmental. So we left. We left everything! Our dog, Gracie, couldn’t even come with us. After nine months and being in three different hospitals, I finally went home.

Since my illness began, we have met so many caring people. We are very grateful for all those who have reached out and shared whatever they could give. I am very thankful for those who have tried to help me. But at the end of each day, I am still here.

Many times I want to scream, but I have no voice.

Many times I want to hide away in my room, but I cannot move.

I want to hug my family and tell them I love them, but I can’t.

I can still move a little corner of my mouth to answer “yes” questions.

I can still cry and tears can still roll down my face, but I cannot wipe them away.

It takes a long time to be able to communicate with my parents. Many times it’s very frustrating to get my thoughts across and then for someone to understand me. What is more frustrating is why do the doctors and researchers we have written to and who have the capability to help me, choose not to help me — like I don’t exist?

I want to do so much but because I am trapped inside my body, I can’t.

(Photo submitted) Alex and her mother, left, sharing a moment now.

I have been ignored by almost everyone who has the power and knowledge to help me. I used to watch medical mystery shows and was always overwhelmed in seeing how a doctor on the show would come forward and do a little extra to save or help their patient. I don’t know why someone won’t do that for me? What I do know is that my illness is “atypical” and not the obvious, which seems to be why doctors are so perplexed. But I can’t get their attention to care enough to help me. I just need someone to care. Even Make-A-Wish denied my wish. St. Jude’s never even tried to help me. President-elect Obama met me in my home, took his picture with me and promised to help me, yet I still wait. My own governor looks the other way. Nearly every national foundation and organization my family writes to responds back saying I don’t meet “criteria”. Every major news organization we write to ignores me. They must not believe five minutes is worthy of helping to save my life. Has our society come to the point that celebrities become a higher priority than rescuing a child with an extremely rare condition?

Celebrities, foundations, politicians, physicians, hospitals, and the list goes on, do not find it in their hearts to get back to me. Why? What would you do for your loved one? All I want is someone with the power and knowledge to help me. I have been rejected because I don’t meet criteria. How sick do I have to get to meet “criteria”?

Recently, a local charity has offered me and my family support by trying to help bring about awareness to my story in hopes it will save my life before it is too late. I am fighting so hard to survive, and even though my voice is silent, I AM SCREAMING ON THE INSIDE TO BE HEARD! PLEASE help me! So many people have told me they love me and they can show this by contacting everyone they know about me so my voice can be heard. There is strength in numbers. Something as simple as taking a few minutes to send a message to all the people in your mailbox could make a big difference.

I am also writing big newspapers. I am asking that all newspapers come together for one day to do something that is completely unprecedented: Publish the same letter across the country so that all may hear my plea … a fresh start to the new year.

It may only take a few minutes, but sharing my letter with someone, a simple random act of kindness, may very well save my life. Please prayerfully hope that I can celebrate another birthday… another Christmas…the day I prayed I would get to graduate from high school.

But even more, a miracle to share in God’s glory.

I am respectfully and passionately asking people who have the power to move — to move for me.

I am asking those who have the ability to scream, to scream for me.

I am asking those who have the capacity to talk, to be my voice.

Everybody tells me to “keep fighting Alex”, so I do. I fight relentlessly … each hour of every day.

Now, I am asking people to fight with me AND for me.

I don’t know why doctors won’t help me … will you?

Last summer, my family began “Alex’s Army”. Will you join Alex’s Army and help me by contacting my e-mail at: alexsarmy@hotmail.com with suggestions and your ideas on how you can help me? Hopefully, and prayerfully, I can find someone who will be willing to help me.

Those who pray, please pray for me as my faith in God has helped sustain me in this battle.

Thank you and God bless.

— Alex Hermstad

Editor’s note: See Alex’s Caring Bridge site at www.caringbridge.org/visit/angelsforalex for updates on her case. A video is also available online at http://www.youtube.com/watch?v=Lq6qotHIiCM (inserted below on this site)

Please spread the word.

January: National Birth Defects Awareness Month

I came across an article at healthnews.com through my Google Alerts today.

January is National Birth Defects Prevention Month.

The article below from healthnews.com is a good article, encouraging help for babies & mothers. But, the truth is that a major part of this so called, "prevention" includes abortion, whether the public wants to admit it or not. So, I thought I'd post this incase anybody has any ideas on any awareness that can be spread from the DS community. I know the awareness may not necessarily be the kind of awareness that is being encouraged, but nonetheless something may be able to be done I think.

I hope to be able to spread a lot of awareness this month by giving copies of our book to doctors, hospitals & even the general public.

National Birth Defects Prevention Month
By: Lara Endreszl
Published: Monday, 5 January 2009

Infants are by far the most fragile form of life that hospitals and families help bring into this world because they are new and have no way of telling us if something is wrong. November was Premature Baby Awareness Month and now it is no surprise that January is National Birth Defects Prevention Month, because babies are a high priority.

A birth defect is defined as a structural, functional, or metabolism abnormality and several thousand of them have been recorded throughout history. As a leading cause of infant mortality including over 20 percent of all infant deaths in the United States each year, the impact of birth defects is greater than anyone would care to think about. There are 18 birth defects common to the rest of the infant population that survive the initial diagnosis and the estimated cost to provide care for those infants is more than $8 billion. According to the National Birth Defects Prevention Network (NBDPN) nearly 70 percent of birth defects are caused by unknown circumstances. Other causes include genetic and environmental factors or any combination of the two. Factors such as quality of life for the mother and baby, history of certain disorders, gene defects, etc, can all cause birth defects.

Research done by the NBDPN says that there are currently 37 states with operational birth defect facilities, 8 states with plans for operational facilities, and still 5 states without any functioning data centers for birth defect research. The main Centers for Birth Defects Centers for Research and Prevention are in the following states providing incredible investigations into trends among infants born with certain defects, innovative prevention tactics, and developing policies for children living with these disorders: California, Texas, Arkansas, Iowa, Georgia, Massachusetts, North Carolina, New York and Utah.

Each January the NBFPN develops a theme in which to provide information relating to birth defects and prevention in a concentrated way. The theme for 2009 is “Getting Fit for Pregnancy,” helping newly pregnant women to deal with the pressures of keeping their bodies healthy while eating for two or more. By spreading national awareness with their theme, many women can benefit from knowing the risks involved in carrying a baby by having the stress of excess weight on their bodies prior to conception. Obesity is a growing epidemic and women who fall into a specific weight bracket in conjunction with their age and height, tend to have riskier pregnancies as a result of the body’s added exertion and are more likely to have hypertension, preeclampsia or gestational diabetes.

With an estimated 120,000 babies born each year in America with birth defects, one in every 33 infants struggles to stay alive each day. Down syndrome, cleft lip or palate, and spina bifida are among the most common birth defects dealt with on a daily basis. Other birth defects include a type of dwarfism called Achondroplasia, a disease affecting connective tissue called Marfan syndrome, a nervous system disease called Tay-Sachs, cystic fibrosis, hemophilia, muscular dystrophy, heart defects, and other musculoskeletal, eye and gastrointestinal defects. To keep your children and their future children safe from birth defects, spread the awareness in order to garner attention and gain support and donations in order to open research facilities in all states and keep prevention—and future infants—healthy.

Qadoshyah

Gabe's Story

Debbie Johnston is a mother to a little boy named Gabe. She is on the Einstein-Syndrome list, so I have followed their journey for a few years.

I will quote what Debbie said, as she explains Gabe's situation well.

Gabe's diagnosis, originally HLHS with DS was considered rare and the original prognosis was very grim. Even the very top pediatric cardiothoracic surgeons had very limited experience with this dual diagnosis. They all wanted to treat him the same as they would a child who did not have DS, which meant he was to have a single ventricle repair. Most kids with DS do not survive beyond age 7 with this repair. We prayed, we researched, and finally we found a surgeon who was able to give Gabe a bi-ventricle repair. As a result, several other children like Gabe were spared the single ventricle repair. They went to the same surgeon we went to, Dr. del Nido of Boston who specializes in bi-ventricle repairs and kids with DS. Only recently he has gained enough data points to start spreading the news of this success, and to warn other surgeons that a single ventricle repair in a child with DS is a very poor option.

If you know of any child with DS who has an unbalanced heart (meaning one half is underdeveloped) I would greatly appreciate it if you could have them contact me. It makes me cringe to know that most surgeons are continuing to perform single ventricle repairs on these kids when there is a better way.

Gabe has a CaringBridge website which can be viewed at www.caringbridge.org/visit/gabrieljohnston

Debbie also made a video montage about Gabe's story, which can be viewed at http://www.youtube.com/watch?v=y7BNDJC_-kM.

If anyone would like to contact Debbie, feel free to leave a comment here or send me an email and I will give you her contact info. Debbie's email address can also be found on Gabe's site.

Qadoshyah

Squidoo page on our book

I made a page up on Squidoo.com about our book. It creates more publicity about the book and also has a spot for comments to be left (a guestbook) . . . so sign the guestbook and leave a comment about the book!

The link is http://www.squidoo.com/gotdownsyndrome.

~ Qadoshyah

In-Womb Treatment For Down’s Syndrome

Posted on: Monday, 1 December 2008, 12:50 CST

Scientists are hoping to develop a treatment for mothers who are aware their unborn child has Down’s syndrome.

In a study with mice, scientists used gave nerve-protecting chemicals to unborn mice who had a syndrome similar to Down’s. They found that some of the noticeable developmental problems were removed among those who received the chemicals.

These mice were engineered to have an extra copy of a segment of chromosome 16, because children with Down’s suffer from having an extra copy of chromosome 21. These so-called "trisomic" individuals may also have learning difficulties and symptoms of Alzheimer's later in life.

Other studies have shown similarities between people with Down’s and trisomic mice revealed malfunctions in glial cells - brain cells that regulate the development of neurons by releasing certain proteins.

Researcher Catherine Spong and colleagues at the National Institutes of Health in Bethesda, Maryland sought to determine if the addition of segments of proteins known as NAP and SAL to mice pups would protect the neurons as to prevent developmental delays.

"We were able to prevent a significant amount of the delay," Spong said.

Researchers noted normal levels of ADNP, which is a regulatory protein that is often underproduced in children with Down’s.

Now Spong is watching to see if mice treated as fetuses also display less of a learning deficit as they mature. She hopes that the prenatal treatment might permanently increase the expression of the proteins in question.

Spong hopes her team’s new findings will translate into a workable treatment for humans affected by Down’s.

"I'd love to see these early screening tests lead to therapy and not just termination," said Charles Cantor of Sequenom in San Diego, California, which is developing a non-invasive prenatal blood-screening test for Down's. "It would have a big impact, especially for families that are not willing to consider abortion as an option."

The book . . .

I added a version of the book that has cheaper shipping costs for international people wanting to buy the book. You can see that at this link http://stores.lulu.com/gotdownsyndrome

~ Qadoshyah

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