Prenatal Testing - Friend or Foe?

I am not against the idea of prenatal testing. I had the triple or quad screens done with 4 out of 5 of my pregnancies.  But there are so many questions surrounding the pushes for prenatal testing coverage as a mandated insurance cost.  Can prenatal testing save insurance companies a lot of money and reduce risk from more invasive procedures? Can it help parents better prepare and make decisions? I am sure it can in some ways. But at what cost to our humanity?  And is it fair to push prenatal testing and/or its associated costs on families not interested in ever participating?  


For Rebekah's pregnancy, we had prenatal testing done in the form of an amniocentesis at 19 weeks gestation due to all of the problems and soft markers that were on our ultrasounds. Given a good guess that we were looking at a severe chromosome trisomy like 18 or 13, I found myself praying that my child would simply have Down's Syndrome and have a better chance at life. What a change in perspective, huh?  And, while never pushed for an abortion (because we made our stance very clear), we were painted a pretty bleak picture of what the future would hold...marriage stress, life with a 'vegetable', no hope, told our money would be better spent sending our 4 boys to college, and so on. 


Why did we get the testing done? We wanted to prepare and educate ourselves in order to provide the best options for our child. If she really was going to die at or before birth, we wanted to hold her, have pictures taken of her, to let her brothers meet her, have her funeral arrangements in order so we wouldn't have to deal with that stress at birth... We did not want her whisked away to a NICU to die on machines. 


Unfortunately, the testing backfired and, while we thought we were best preparing ourselves, we were just being inundated with old statistics and outdated/inexperienced opinions that led to palliative care preparation.  Resources from the internet (at that time) were 99% gloom and doom, and we received no positive resources from our doctors (in terms of being told about support organizations and groups, data on kids that survive, etc). Don't get me wrong... we had many compassionate, wonderful medical professionals that helped us prepare! We are extremely grateful for the consideration and understanding of our Maternal Fetal Medicine OB and perinatal hospice nurse - both who helped us make appropriate arrangements. 


But I can't help but think we sold our daughter short. We did not intervene early on, and she suffered from 5 weeks of worsening and life-threatening apnea events that, because of her prenatal diagnosis, were written off as symptoms of trisomy 18. Addressing them would only "increase her suffering, prolong her miserably existence, and lead to financial and marriage woes" because the problems were inherent to the extra 18th chromosome. In other words, trisomy 18 went beyond a diagnosis and, wrongfully, became the prognosis.  We did more harm to her not intervening early on and not pushing for medical interventions. Once we finally realized she wanted to be here and was fighting, we knew we had to fight with her. We soon pushed for all kinds of testing to determine her apnea issues, and the results amazed her medical team because they were TREATABLE. What our prenatal testing resulted in was prenatal genetic discrimination, reduction of early intervention options, no early "invasive procedures", and a preconceived idea from just about every medical professional involved of what our daughter would/wouldn't be. Let me just say that she has probably exceeded all of their expectations, and she probably did that before she even reached a year old. 


I am not against someone having a prenatal test... but I am against discrimination and genocide. I now suggest that families do not get their genetic testing done until after birth so that their child is given more opportunities. And yes, I am realistic. I think about my daughter's lifespan everyday because, statistically, she is a "long-term survivor" of trisomy 18 and I have not heard of any T18 children that have lived a normal life span. I am against giving false hope...but I am also against someone receiving false despair.  Already, we see at least 90% of babies diagnosed with prenatal chromosome disorders aborted. This number WILL go up with the newer and better prenatal diagnostic blood tests like Sequenom and verifi(TM), and that is precisely why and how prenatal testing will reduce medical costs.  


The real problem with this early knowledge is that parents are typically only given one side - the negative and worst-case medical/clinical side of things, and are not given the supports or accurate up-to-date resources parents need to make educated, well-informed decisions.  This is something that the Prenatally and Postnatally Diagnosed Awareness Act S1810 (Kennedy-Brownback Bill SB1810)  is suppose to help address.  Unfortunately, this was signed into law but no appropriations have been made to implement it. The law identifies the need for Physicians and health professionals to provide parents who receive a prenatal or postnatal diagnosis of trisomy 21 (Downs Syndrome), or other diagnosable congential condition such as trisomy 18 (Edwards Syndrome) and trisomy 13 (Patau's Syndrome), with updated, evidence-based information and resources about the condition. 
We love our Rebekah dearly and cannot imagine life without her sweet spirit! Our marriage has not fallen apart, our boys are not traumatized... in fact, our "humanity quotient" has grown a good deal and I know that my boys will grow up to be extremely compassionate, empathetic, and more "tolerant" than most of their peers. 


There is an article that I would love our followers to read. It is FIRST-PERSON: The Dark Side of Prenatal Testing by Penna Dexter from the Baptist Press news. 

"...Prenatal testing and the medical personnel involved are convincing far too many women to abort. We must change this."

I have to agree. Because, even if you are "Pro-Choice", you have to respect that receiving one-sided information is not going to result in a happy ending when a family terminates because they ultimately had no choice presented to them. I have been contacted by many women who were pushed into abortions because of genetic anomalies. When they see Rebekah, or one of many, many other children, surviving and thriving with their disorder, they have indicated that they feel robbed of that choice. My heart aches for these women. 
The article has many good points but here is another.

"There is a bill making its way through Congress, the Prenatal Nondiscrimination Act, which would ban sex-selection or race-selection abortions. This bill, or another, should also address the disabled. New Jersey Congressman Chris Smith, a champion for pro-life legislation, says children, whether they are "sick, disabled or healthy" possess "fundamental human rights that no sane or compassionate society can abridge.""

There are many things that could be done to help families make informed decisions for their children. One way is to help lobby for the above-mentioned Prenatal Nondiscrimination Act to take into consideration the disabled. Sex- and race-selection abortions are already included. And if you wonder why we should even have an act to protect again sex, race, disability-based abortion selections, just look at how prenatal discrimination cases are on the rise and costing taxpayers a lot of money. But, that is probably a whole long discussion in and of itself...

TAG-Teaming the SOFT Stroll for Hope

SOFT (Support Organization For Trisomy 18, 13, and Related Disorders) is a volunteer organization that offers support for parents who have had or are expecting a child with a chromosome disorder (especially Trisomy 18 and Trisomy 13), and education to families and professionals interested in the care of these children.  Every year they hold an annual SOFT Conference which provides an opportunity for grieving families to celebrate the lives of their children and learn skills to help them in their grief. It also offers an opportunity for families of living children to come together and spend time with families who understand their daily struggles, medical concerns and stresses, and the joys found in having a trisomy child. Most importantly, it offers opportunities for doctors to get hands-on experience with trisomy children through a medical clinic offered to all trisomy attendees, and provides important up-to-date education opportunities to families and medical professionals alike.

I am excited and honored because I will be representing the Trisomy Advocacy Group (TAG) at a conference session, along with several other TAG Board members. Our session is entitled "How to Advocate for your Trisomy Child".


All of the TAG Board Members attending the SOFT Conference will also be involved in a conference Stroll for Hope event that is designed to raise funds for SOFT. Some of the money goes to future conference costs, and some of the money goes to SOFT's general funds for operating costs.  I fully support SOFT and can attest to the positive impact it can have on families no matter where they are in this journey. Please consider supporting TAG's efforts to help SOFT by donating towards our TAG Team's SOFT Stroll for Hope fundraising efforts!


Here are some photos from the SOFT Stroll for Hope event in Chicago, IL in 2011. This is our Budd Zoo Team! But this year, we will have a TAG Team instead!

The Budd Zoo Team posing in our 2011 Stroll for Hope position.

Here is the back of our team Budd Zoo t-shirts. The design was created by our son, Elijah. We then used  ink jet t-shirt transfers to put them on matching t-shirts.

Go Team Budd Zoo! Notice how Elijah is holding Rebekah's hand. :-)

PLEASE DONATE to our TAG Team SOFT Stroll for Hope here: https://www.firstgiving.com/fundraiser/TrisomyAdvocacyGroup/StLouis1

Find out more about SOFT's Annual Conference, to be held in July at St. Louis, MS this year:

http://www.trisomy.org/conference/

To learn more about SOFT, please visit -

website: http://www.trisomy.org/

facebook support group page: https://www.facebook.com/groups/TrisomySOFT/

To learn more about Trisomy Advocacy Group (TAG), please visit - 

website: http://trisomyadvocacy.org/

facebook organization page: https://www.facebook.com/TrisomyAdvocacyGroup

facebook support group page: https://www.facebook.com/groups/T18Mommies/

Bella Santorum's Impact on the Trisomy 18 Community

I was quoted in an article on Politico on 4/14/12!   Juana Summers (the reporter) did an awesome job of posting a NON-POLITICAL piece by interviewing several different people and perspectives and showing how Rick Santorum's daughter, Bella Santorum, has helped make Trisomy 18 a more widely-known disorder.  Of course, Santorum-haters used the article to attack him, Bella, and trisomy parents, like myself.

Bella Santorum's Fight - By Juana Summers on Politico
Here's my part in the article:

“A couple years ago, nobody knew what trisomy 18 was,” Susan Budd, the mother of a 2-year-old who has the chromosomal abnormality, told POLITICO. “Now, when I’m out and about and when somebody will ask me about my daughter, they’ll see trisomy 18 and they’ll say, ‘Oh, isn’t that what Rick Santorum’s daughter has?’ So Bella Santorum has done a lot for trisomy awareness in a very positive way because I think that more and more people are seeing that children are living with it.”
Budd – a mother of five including 2-year old Rebekah, who also has the disorder – said during her pregnancy several years ago, “if you typed trisomy 18 into Google, everything that you’d pick up would be negative,” but that now – partially thanks to the Santorum family – there’s a greater awareness and more resources for families like hers, impacted by the rare condition.
Without resources to turn to, she started a Facebook group that now boasts nearly 1,000 members and also keeps a blog about her daughter’s life.
“During the pregnancy and early on, my local contacts and my online community - that got me through things,” Budd said. “Now, I’m at the point where Rebekah is fairly healthy and stable, and so I spend a lot of time helping other families that are just beginning this journey, or who have never known that there is a big community to help them.”
Budd’s problem is less common now, after Santorum’s decision to step off the campaign trail – twice – to be with his ailing daughter made national headlines.
Read more: http://www.politico.com/news/stories/0412/75120.html#ixzz1tOfQlv5n 

The article made it to another blog where I was re-quoted!
How Bella Santorum Had a Positive Impact on Families With Sick Children by Laura Donovan

I wish I could get our story out there even more and help share HOPE for trisomy kids!

Medical Futility Policies

Thankfully, most people do not ever have to deal with Medical Futility policies. Unfortunately, parents of Trisomy children need to educate themselves about it.


The Free Dictionary defines it as:
medical futility,

1 a judgment that further medical treatment of a patient would have no useful result.

2 a medical treatment whose success is possible although reasoning and experience suggest that it is highly improbable.

Mosby's Medical Dictionary, 8th edition. © 2009, Elsevier.

---

futility [fu-til´ĭ-te]

the quality of not leading to a desired result.

medical futility the judged futility of medical care, used as a reason to limit care. Two reasons for making this judgment are (1) to conserve resources and (2) to protect clinician integrity. The types are physiologic futility and normative futility.

normative futility a judgment of medical futility made for a treatment that is seen to have a physiologic effect but is believed to have no benefit.

physiologic futility a judgment of medical futility based on the observation of no physiologic effect of the treatment.

Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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medical futility

Futile resuscitation, futility Biomedical ethics A subjective term that encompasses a range of probabilities that a Pt will benefit from efforts designed to improve his life and survive to discharge from a health care facility Medtalk The lack of efficacy of a particular maneuver in ↓ M&M. See Advance directive,DNR, Futility. See DNR orders. Cf Euthanasia.

McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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Yes, MANY hospitals have policies regarding medical futility! These covert policies guide withholding treatment to infants (and adults) in certain circumstances, DESPITE PARENTS' DESIRES. It includes things such as a physician-written DNR that trumps the parents' choices, to covert injections of medications in doses high enough to cause death, to withholding of nutrition and fluids, to mysterious deaths for no apparent reason.

If you don't believe this happens, there are many stories of trisomy children mysteriously dying after routine procedures or surgeries where the prognosis was good. Mary Kellett, from Prenatal Partners for Life, unfortunately has first hand experience of medical futility policies. Mary's son, Peter, passed away in 2011, and the hospital led them to think he died of a infection. They were encouraged by the funeral home to have an autopsy, it confirmed that the hospital was responsible for his death and they knew what they were doing. They allowed sweet Peter to fill and drown in his own blood while pumping him with fluids, all while lying to the mother who kept asking them if he was internally bleeding. This is the worst nightmare of any parent whose child is in the hospital... that the doctors and hospital you entrust your child to allow things like this to deliberately happen.

Do you know about the Medical Futility Bill? Until this is federally mandated, we (the disability community) should fight for this at our state's level. It requires hospitals to disclose their medical futility policies to parents of minor children and to the Department of Health. It is currently being lobbied at the federal level by Michele Bachmann. Idaho has recently signed into law the Medical Consent and Natural Death Act. It is being discussed in MN. The amendment was adopted, but must now go to conference since it was not in the original house bill that is has been added to. It was recently debated in a MN House informational hearing. Here is the audio of the brave testimonies of several families. The first person to testify is Mary Kellett.

Here is a good resource to follow what is going on across the country with respect to medical futility issues.

Sweet Peter Kellett, trisomy 18, victim of a medical futility policy.

Testimony in Support of SF2238 - by Mary Kellett

Thank you, Mr. Chair for the opportunity to speak before the committee. My name is Mary Kellett and I am a resident of Maple Grove.

I am a mother of 11 children the youngest of which, Peter, had a condition known as Trisomy 18. I want to speak in support of Senate file 2238 and tell you my story because I believe it is important for you to know as you consider the need for this legislation.

Peter’s story- when I was 19 weeks pregnant, an ultrasound revealed markers for a condition called trisomy 18. We were offered an amnio, which we refused because we didn’t want to risk hurting our baby. We were told we would have more choices if we knew for sure. We said we would never abort our baby, but would love him no matter what he had.  We named him Peter. We were told there were no survivors beyond 2 weeks with trisomy 18 and that most people aborted babies like this. At 33 weeks I had an emergency c-section. Peter weighed 3lbs and 2oz. Peter was given excellent care until day 2 of his life when a fish test revealed he did have trisomy 18. At that time it was recommended to us that we stop all treatment, wrap him up in a blanket and let him die. We were told he would lead a life of terrible pain and suffering and would never know us or respond to us. My daughter went on the Internet and found many children living with this, some in their twenties and thirties. When I asked the doctor why he had lied to me, he said, “ Well how these children do largely depends on the choices their parents make for them.” I responded,” How can parents make decisions when they don’t receive accurate information.” He then said, “Well, we have to think about resources and you know Peter will never be able to contribute to society and will be a horribly burden to your family.” I started to cry, because I knew resources meant money and it hurt so badly to have a doctor tell me my son wasn’t worthy of the needed treatment to help him live.

Another woman doctor who I had never met until after Peter was born came into my hospital room and said she wanted to talk to me as a mother, not as a doctor. She said that if I wanted to be a good mother to my other children, I had to let Peter go, because he would be a burden to our whole family and it would not be fair to them. I could do nothing but cry. We were told our son’s heart defect was fatal. Something told me the doctor was not telling the truth, so we made our own appointment with a pediatric cardiologist who shook his head and said Peter’s heart was stable and functional, but he did need a minor surgery called a PDA ligation. The doctor at the hospital told us that Peter was not a candidate for this surgery that was described to us as open-heart surgery. We were asked why we would want to put our son through that. It was not open heart surgery but a minor procedure to close a blood vessel. This is just a small example of the incomplete, inaccurate information and out right lies we received. We were pressured over and over to sign a DNR. We were even told we could not receive home care visits from a nurse unless we signed a DNR. I called the director of the home care-nursing program and asked her if this was true. She was flabbergasted and told us this was not their policy, nor had it ever been their policy. When I confronted the doctor about that she said, “Well they must have changed their policy, to which I responded no, it has never been their policy. We were very concerned about our son’s welfare. It was very hard leaving him at the hospital, knowing they felt as they did. We called the head doctor of the NICU at the U of M for a second opinion and shared our concerns. When the doctor at the hospital Peter was staying at found out, she was very angry. The next day she said we had 2 choices, we could take Peter home or we could transfer him to Childrens, she already called and they had a bed ready for him. She said we had to leave HER hospital.

We decided to take Peter home. He only weighed 3lbs 11oz. He thrived on all the love and attention and grew and did many things we were told he would never do, like drink from a bottle and eat by mouth. He knew us and loved us, and we loved him. He was the happiest, sweetest little boy, who was everyone’s favorite. He was never, every a burden, only a joy and a blessing. He made us all better and taught us so much about love and compassion for others. He was the best of us. Peter died at Children’s hospital in Mpls at the age of 6 1/2 after having his appendix removed. I have to wonder if he was a victim of their hospital’s futility of care policy. I have talked to many other families who also have children with disabilities that have similar concerns and stories to share. By having this policy, doctors and hospitals are making a value judgment about children that only parents have the right to make.

In conclusion, I want to say that this bill simply gives parents the right to know if a hospital has a futility policy and what it is.  It provides a level of consumer protection in health care choice. Parents shouldn’t carry the burden of fear and stress over the policies of the hospital, especially during a medical crisis. They have a right to know before they bring their child, disabled or not, to that hospital. And they have a right both legally and naturally, to be the decision makers of their child’s health care. Please pass this bill. Thank you.

---

Peter Kellett - Little Teacher of Souls

“There is a place in the world for children with special needs. We all are ‘differently-abled,’ with flaws and gifts. These children are teachers of our souls, and society desperately needs the lessons and blessings they bring.” ~Mary Kellett

March is Trisomy Awareness Month!

Rebekah started out Trisomy Awareness Month with two accomplishments! First, she is one of the featured Toby's Kids on the Passy-Muir company website. Rebekah wears a Passy-Muir Speaking Valve which allows her to talk despite having a trach. She also learned something new and very special. When told, "Give me a kiss!", she will now turn her head toward you and give you a nice, slobbery kiss! Every now and then, she makes really funny fish lips trying, but it is mostly a closed lip peck right now. She will even kiss her stuffed animals!! Her nurse, Becky, got teary-eyed when I showed her.

Rebekah turning her head to give mommy a kiss!

Rebekah and I have have kicked off Trisomy Awareness month by trying to do as much local awareness as possible. My boys' school had Disability Awareness Week this week for the 3rd graders. I took Rebekah into the school and was able to share her story and some information about children with disabilities. Her brother, Jeremiah, was so proud when I brought her around to his classroom! He loved showing off her g-tube and trach, and wanted to talk about the SOFT conference we went to last summer in Chicago and how we will be going to St. Louis this summer for it. (SOFT is Support Organization For Trisomy)

Then this afternoon, we had the privilege of having 6 MUSC (Medical University of South Carolina) 3rd year med students/interns come to our house and meet Rebekah and her friend, Maddy, who has a 2q microdeletion. What a WONDERFUL opportunity to work with future doctors so that they can have more compassion and empathy for disabled patients! This is part of a program to give these future doctors some exposure to the disabled community, since most of their exposure will be with sick patients in a 'hostile' environment. I think these poor students got a little more education than they expected. Thanks to the Budd Zoo, they learned how loud and chaotic a house of 5 kids can be!

Maddy (2q microdeletion) and her Mommy, Alisa

Some of the future doctors!

Two more future doctors (holding Rebekah) in front of Jeremiah and Michelle from our local Family Connections group.  A big thanks to Michelle for getting us signed up for this program! We hope to see many more doctors!

This weekend, I will be hard at work on a trisomy awareness video for the nonprofits I am involved in: Hope for Trisomy 18 and 13 and Trisomy Advocacy Group. I am so excited because our video will have examples of trisomy kids from 2 to 22! Woo hoo!  Make sure you subscribe to our you tube channel so you don't miss it! 

Monday, I am attending a SC Department of Disability and Special Needs (DDSN) Stakeholder Meeting. Even though this isn't directly trisomy-related, it is directly related to services we receive from the state and I go representing Rebekah, and all children like her.

Next Wednesday, Rebekah and I are off to FL to celebrate a Trisomy Awareness gathering of friends, several of whom will be at Disney all week thanks to Make a Wish Foundation. We are praying we will get some media coverage for our event!  I am so excited to spend just a few days hanging out with Rebekah's trisomy friends!

Later this month, I will be working hard on a presentation application to the TASH Annual Conference. TASH is an international leader in disability advocacy fighting for human rights and inclusion for people with significant disabilities and support needs - those more vulnerable to segregation, abuse, neglect, and institutionalization.  If the project gets chosen, Rebekah and I will get a trip to CA in November!

Needless to say, I will be taking a mental break in April, and probably sleeping for a week!

To learn about all kinds of helpful resources for special needs children, and to see some of the beautiful children that span across all trisomies, please visit our facebook page: https://www.facebook.com/TrisomyAdvocacyGroup

Trisomy 18 Children (and Parents) Can Experience Joy

The following opinion editorial was written by Michael Budd (father to Rebekah) and run in the Greenville News on 2/13/12.

Rick Santorum’s run for the Republican presidential nomination has brought to light a topic that is near and dear to me and my family. Like Sen. Santorum, my daughter has the genetic condition of Trisomy 18, or Edward’s Syndrome.

This condition was prenatally diagnosed, but my wife and I chose to continue the pregnancy despite the gloomy prognosis. Ninety percent of Trisomy 18 children die at or before their birth, and of those that survive, 90 percent die in their first year of life. We chose to cherish whatever life God gave to us.

I recognize that many don’t understand this decision and that there are many misconceptions about these precious children.

Much has been written recently about Trisomy 18, but the most profound statement in an online ABC News article said that survival “depends on the severity of symptoms and the quality of care.” The first part, “severity of symptoms,” is a wide range and something that cannot be changed.

Most of these children are lost despite the hopes and prayers of their parents. However, the “quality of care” is our choice. If the child survives their birth, we have to choose the amount of medical intervention we will afford this medically fragile child.

I have heard it said that Rick Santorum’s daughter, Bella, has received care because he is wealthy and privileged. This is not my experience. My family is middle class, we have private insurance through my employer, and my daughter, Rebekah, has received similar care that Bella has received. Additionally, in South Carolina, Rebekah is eligible for a type of Medicaid called TEFRA, which covers more services than our private insurance.

The truth of the matter is that Bella receives services because Rick and Karen Santorum are willing to fight for them. I did say fight. You see, Trisomy 18 children are categorized as “incompatible with life” or “a lethal diagnosis,” which many doctors and hospitals take as a license to deny care. This story is played out everyday across the United States and the world.

Like the Santorums, we are blessed to live in a community that has hospital systems and many doctors that have helped us address Rebekah’s medical concerns. Their care and interventions have enabled us to enjoy over two- and half-years of joyful life so far.

It is true that a child with Trisomy 18 faces difficult times and their family has to make hard choices about their care, but aren’t all of our lives difficult at times? Many people have told me how Rebekah’s demeanor and activities change when she hears my voice coming into the room. Not only does she recognize me, she is excited to know I am coming to see her!

If you could see Rebekah and Bella (and the numerous other Trisomy children across this country) at home with their siblings, friends (yes, friends) and favorite toys, you would see the true essence of happiness and peace. The joy Rebekah takes from life encourages us about the decisions we have made on her behalf.

My heart breaks every time I hear about a child diagnosed with Trisomy 18, because I know parents will have to make difficult choices in what are often hostile environments. Unless you have faced these choices, you have no idea what they feel like.

At these moments, it doesn’t matter what you believe morally, ethically, politically, philosophically or theologically. You must make a life or death decision. In a few hours, days, or weeks, you will have to make it again. Ultimately, you have to live with whatever choices you made.

For my wife and me, our first choice was to “cherish every kick and every moment” we had with our daughter. Almost three years later I thank God every day for how he has blessed us.

Michael Budd lives in Simpsonville with his wife,
Susan, and their five children.
For more information about Rebekah go to
http://buddzoo.blogspot.com.
Help is available at www.trisomyhelp.org.

Through My Eyes...

Through My Eyes...

If only you could see my little girl through my eyes,

 the way I see her...

She is so beautiful!

She is so happy!

She is so full of unconditional love!

She often looks at the ceiling and her eyes follow things I cannot see.

Then she giggles and darts her eyes in another direction,

as if to see the angels that are hidden from my view.

Her heart is so pure, she knows only love.

Oh, how it breaks my heart to hear the bold, ugly comments about 'her'

and her trisomy brothers and sisters.

"She would be better off dead."

"She doesn't know the difference between her father and the door."

"Kill them all!"

"How can you bring a child into the world knowing they will live a life of pain?"

"She 'suffers' from trisomy 18."

"You must've done something bad to have a child like that."

Oh, the terrible things said about these children from uneducated and heartless minds.

My daughter does not 'suffer' from trisomy 18.

Our world suffers from inhumanity and self-centeredness.

To love my daughter and those like her is to truly know and understand agape love.

SIGH...

"If only you could see the world through my eyes," whispers a voice to me.

"A world were love knows no bounds,

a world where everyone is beautiful,

a world where everyone has a purpose."

Was that her voice speaking to me?

Or that of Jesus, gently nudging me to love and forgive as he has.

I have been given a most precious gift...

the gift of life, the gift of love.

I wish you, too, could experience this.

I wish you could see things through my eyes.

Getting 'PLASTERED'

Rebekah has scoliosis, and it seems to be getting progressively worse.  We go to a Shriners Hospital to follow its progression and they have been reluctant to do many interventions. But each x-ray has been getting steadily worse, so they agreed it was time to do something to try to slow down the progression. The danger of scoliosis, especially an 'S' curve scoliosis, is that it will eventually crowd the heart and one lung restricting growth and obviously causing problems. We are a long way from that point, but it seems evident that we will eventually get there. The doctor would like to slow down the growth as much as possible so that we can hold off on any kind of surgery until she is a teenager. Once you fuse the spine, put rods in place, or any of the other surgical methods for correcting bad scoliosis, you stunt growth so that the patient can really no longer grow. While there are some nonsurgical casting procedures, they are not considered as effective for 'S' curve scoliosis as for 'C' curve scoliosis, especially in patients with a chromosome disorder.

There are many types of scoliosis braces. The original plan was to get a hard shell TLSO (Thoraco-Lumbo-Sacral-Orthosis brace, or also known as a Boston brace). But because the corrective pressure put on her during the casting did not result in a >50% improvement, we went with a TLSO that has more padding and less hard plastic and will be a little more breathable. The doctor is hoping it will encourage us to use it more often and therefore be more effective in the long term. But we have to try to balance maintaining her spinal curve with improving her development. In any case, the braces hinder her development by limiting her movement and adding a lot of weight to her already weak muscles.

Here is a picture story of the process of getting fitted for a TLSO, which includes being plastered in a cast.

9/21/11 S Curve Measurements: Top - 27 degrees, Bottom - 29 degrees
12/14/11 S Curve Measurements: Top - 33 degrees, Bottom - 30 degrees

Getting ready for the casting. First a tight body shirt is placed on the patient. The shirt has no obvious seams to cause irritation and the same kind of shirt is worn under the TLSO to help prevent breakdown of the skin.

Rebekah was placed on a crazy contraption and balanced on about a 2 inch wide 'sling'. Then warm, wet pieces of plaster were wrapped around her body from below the arm pits to right below the hip bones. Then they were smoothed down. Rebekah seemed in a trance and loved the attention, proprioceptive input, and the warmth. They stated she was, by far, the easiest 2 year old they had done!

Then her feet are put in straps at one end and her head put into a sling of sorts. They applied pressure to 3 different points in order to compensate for and correct the scoliosis. Then they 'crank' the contraption and stretch her out like the medieval 'rack' used in torture chambers. (It didn't really hurt her, just gave her a nice stretch. She actually didn't complain during the whole process; it probably felt really good on her back.) She was kept in this position for about 10 minutes until the plaster was hardened.

Once hardened, she was taken out and carried to x-ray to see how well the correction worked.

Here she is getting the x-ray done. The pins show the sections where the correction pressure points were placed.

Here is the x-ray with the cast. From my untrained eye, it seemed tons better than the previous x-rays. But it didn't improve her scoliosis the desired 50% or better goal. The S curve was now about 117 degrees on the top and 21 degrees on the bottom. The bottom curve was much harder to correct and clearly is bone growth, not weak muscle as previously thought by the doctors during earlier x-rays. This means we will not be able to correct the curve, but we will try to slow down the progression so that it does not get real bad before puberty, the preferred time for any surgical interventions since growth of the spine can be stunted once surgery is performed. Even the growing rods only have a certain amount of growth capability built into them. All of this was disappointing to hear. But we are committed to doing what we can to improve Rebekah's condition without greatly hindering her developmental growth opportunities. The trick is to figure out how much use of the brace is necessary to slow the growth down while we continue to see developmental gains and encourage Rebekah to sit on her own and move and roll around. A brace would certainly limit her movement and exploration at this critical stage of her development.

With the x-rays over, the plaster cast can now be removed. A little hand saw is used and it is cut in a straight line that was drawn on her during the casting process. Right under the line is a heavy weight strip of material that prevents the saw from going into her skin.

Then a tool is used to separate the cast so we can pull her out. The cast needs to remain intact so it can be used to mold the new TLSO.

A few weeks later the base TLSO was completed. I forgot my camera the day of the fitting, but basically they put the tight white undershirt on like in the picture. The shell was placed on Rebekah and cut to fit her under the arms, far enough below the trach not to obstruct it, and high enough at the hips to allow her to sit in the TLSO. Then it was drilled to add airholes and the straps were added to it.

Here is the front of the completed TLSO. The round hole is cut for her g-tube so that the shell doesn't need to be removed for each feeding. The 3 straps are pulled so that the TLSO is tight enough to 'not move', but not so tight that it hinders breathing. We undo the lower straps during feeding just so we don't have so much pressure on her little tummy that it causes her to vomit.

The back goes all the way down past the sacram, but does not go too far to hinder sitting. The white sections with the holes are in areas where there are no pressure points. This adds a little more air circulation and comfort to the TLSO. However, if the casting had improved her scoliosis more, they would have stayed with a hard shell brace that would ultimately be more effective (but less comfortable). The lack of improvement is because the scoliosis is based more on hard bone curvature versus a muscular cause to the curve which is more 'correctable' over time.

So for anyone facing a casting scenario for your child's scoliosis, this should give you an idea of what you might expect. Although the process was time-consuming, it wasn't difficult on Rebekah. She rather enjoyed the warmth and confinement of the plaster session. She didn't care for the brace the first week or two and seemed to hold her breath. But we never really got much out of her than a little whining. She is now doing well in it, and can wear it pretty much all the time with no issues with her skin. We take it off for a few hours here and there for therapy and play time. It is supposed to be worn like 23 hours per day, but we have to balance physical development with reducing the curve progression. We will have to go through the process probably about once every 4 months or so, depending on her rate of growth. If her curve remains stable from the last uncasted x-ray statistics, then we will know we have a good plan in place.

Karen for First Lady!

Michael and I made plans to attend our first ever Republican Party even - a meet and greet dinner with Senator Santorum at a local restaurant. The thought came to me about an hour before we had to leave that I should give him a note with a picture of us with him from last year and an invitation to his wife to join our online community. Here's my short note. I included several of Rebekah's info cards and a picture of our family.

Dear Mr. Santorum,

We had the pleasure of meeting you at the SOFT Conference last summer in Chicago!

A group of us have started a nonprofit called Trisomy Advocacy Group – a group meant to educate and help parents advocate for their trisomy 18, 13, and any other trisomies not currently represented by a national organization. Like you, we have had our share of disappointing encounters with the medical community, despite our full trisomy 18 daughter being 32 months old. We would love to talk to Karen or you about it! We would also love to give Karen some trisomy support. We have a great moms group on facebook, and she could even join under a different name if she didn’t want the attention. I cannot tell you how much we have learned from our moms group and how it has helped us to be better advocates. God bless! We will be voting for you!

Michael and Susan Budd

I held a folded paper in my hand waiting for the opportunity to slip it into his hand when I had my chance to meet him as he made his way through the room greeting everyone there. We arrived 40 minutes before it was scheduled to start - good thing as he started speaking only a few minutes later. I would have to wait until after his speech to get my moment.

As I struggled admist the crowd to see Santorum as he spoke, I can honestly say I felt an amazing presence in the room. I believe this man to be a man of character, speaking words of truth - someone who can bring integrity back to the White House. There is no candidate that I agree with 100% on every issue, but I would take someone who I agree with on 90% of the topics and who I know would be true to their word. 

My excitement suddenly grew though!  I didn't expect to see his wife, Karen, standing next to him. For some unexplained reason, my eyes suddenly welled up with tears as I felt an inexplicable bond with this woman. The letter I wrote was really intended for Karen, but I didn't dream I would see her at this event since Rick was making his grassroots tour across the Upstate area of SC and visiting location after location every few hours. I was so excited! I could now give the letter to Karen directly!

The speech finished and I continued to push my way through the crowd waiting for my opportunity to get to the Senator. But as I got closer, I saw Karen was no longer by his side! My heart dropped. I asked a ady who had been standing there if she knew where Karen went. She said she heard her saying something about the bathroom.

So I snuck off to the bathroom to 'corner' her despite Michael's urgings to give her some privacy. Besides her, that bathroom was empty! I patiently waited until she came out of the bathroom stall and washed her hands, then I made my move! I quickly introduced myself as a fellow trisomy 18 mom, my heart welling with a pride that only another trisomy mom would understand. I gave her the letter and quickly said a few words about our Trisomy Advocacy Group, Trisomy 18 Mommies group, and my family.

Karen started asking me questions and took a glance at the letter and my info card with Rebekah's picture. She recognized Rebekah! She said, "You have a blog, don't you? It's beautiful, I loved it!" My heart burst with pride and I suddenly had the urge to run home and add to my long-neglected blog! My writer's block had been broken!  We chatted some more about advocacy and these words flowed from her mouth, "I have such a passion for this! [referring to trisomy 18 advocacy] I am so tired of doctors telling us our children are 'incompatible with life'."

She asked me about Rebekah's story. How did it start? What did the doctors do/say? What did we do with Rebekah? We chatted for long enough in the bathroom that someone from their security group finally knocked on the door, gave me an evil eye, and asked if she was okay. Before I could say a word, she said everything was fine. She gave me a hug and we left the bathroom. I paused her so Michael could snap a picture of us together. Then her son, Dan, gently told his mother they had to move on to the next location and were getting ready to leave. Michael just looked at me disbelieving I actually DID have the guts to stop her in the bathroom after all!

Let me tell you, I love this woman! She would be such a great First Lady for our country. She is as down-to-earth as Rick, not afraid to shake hands with those around her, and has such a kind heart. I am most honored to meet her, even though I thought it meant I missed my opportunity to speak with her husband. But she had my letter! So I knew he would at least get to see the picture from last summer of him with Rebekah, Michael, and I.

But my evening wasn't finished! I made my way across the room to our table, and I squeezed next to Senator Santorum as he was heading out a side exit door. I quickly stuck out my hand, and reminded him that we had met at the SOFT conference in Chicago last July. He gave me a hug, and asked about our daughter. He, too, gets my vote for the White House!

Quality of Life

Before Rebekah was born, we were told many things about what to expect because of her diagnosis of Trisomy 18. None of them were positive. It went beyond describing her as 'incompatible with life'. At one point when asking how far should we go to help her, we were told to save our money because we have four boys to send to college. When requesting a caesarian section in case of distress, we were told no, that it was too dangerous to me (the mother) and that trying to help a child like Rebekah was not why that person became a doctor. When exploring how best to address Rebekah's early blue spells and apnea and looking at the option of a tracheostomy, we were told that we would regret our decision a year down the road. When asked for an explanation of Rebekah's brain MRI, we were told that Rebekah is noncommunicative and may develop a little bit, but will then start regressing and basically be a vegetable, so we need to stop doing to her and start thinking about how to just make her comfortable.

All of these comments and opinions were based on a false assumption... the assumption that Rebekah's 'quality of life' would be or is poor and that her existence negatively affects our family.

What is 'quality of life'?

• a term used to evaulate the general well-being of individuals (subjective well-being)
• what makes life worth living
• the extent to which people's 'happiness requirements' are met

I like one definition from grdc.org: Quality of Life is the degree to which a person enjoys the important possibilities of his/her life. Possibilities result from the opportunities and limitations each person has in his/her life and reflect the interaction of personal and environmental factors. Enjoyment has two components: the experience of satisfaction and the possession or achievement of some characteristic, as illustrated by the expression: "She enjoys good health." Three major life domains are identified: Being, Belonging, and Becoming.

Rebekah had an appt last week with her Developmental Pediatrician. His name is Dr. Desmond Kelly and he is such a compassionate and understanding doctor.  We updated him on all the new things Rebekah has started doing in the last 6 months.

He had this to say about Rebekah:

• She seems to be genuinely happy.
• She explores her environment.
• She entertains herself.
• She has self-esteem and looks pleased when she accomplishes a task.
• Her highest area of development is her social skills.
• She recognizes and reacts positively to her family.

I said to him, "Wouldn't that constitute a good 'quality of life'?"

His response was agreement. "She obviously loves her family and brings you great joy. That is what it is all about."

How well stated! If only more doctors would look at 'quality of life' with the same view! And if you go back to the definitions of quality of life - I think Rebekah has mastered all the areas from her view: well-being, happiness, being, belonging, becoming, loving. She is, to us, all that God meant her to be. And I would say her quality of life is better than most people in the world. Even more importantly, she makes OUR quality of life better too.