Friday, May 4, 2007

Caden's Hero - A Tribute Marking the Two Year Anniversary of His Diagnosis

Two years ago (May 10, 2005), I was delivered one of the most devastating realities that would shake any parent. I found out I was a carrier of Fragile X Syndrome and had passed on the full mutation to my son Caden Bray. Fragile X is the most common inherited cause of mental impairment. It is also the most common known cause of autism.

Now, two years later, it could be any morning...5 a.m...and I can’t fight back the tears. It’s not brought on by my newborn twins, Camden and Braylin, crying or aching for attention, they’re sleeping soundly - they are my miracle babies created in their brother's honor, the namesakes of their big brother Caden Bray.

He is now three and a half but has the mentality and cognitive ability of a two year old, even though he's 35 pounds and 38 inches tall, as strong as an ox and as cute as a button. It’s not exactly the way I like to start my day especially with little ones who still wake during the night. In the quiet of the morning, when others are sound asleep, I awake in tears of worry and frustration.

You may wonder what I have to cry about with the miracle of the twins being born healthy and our family finally complete. Simply put, I need a hero. I need someone to help me, help my family, help my son, with Fragile X.

Why the tears? Why now? Why two years after his diagnosis. Because I will fight until my last breath for him - it’s a combination of things. Caden’s third birthday was in September. His siblings were just born and we have all their milestones to look forward to - each milestone will be a powerful reminder of what Caden didn’t do compared to what typical children his age did or are now doing at his age.

At three, he should be talking in sentences, learning to ride a trike, and singing his ABC's.

At three, he should have friends, be interacting with his peers at daycare instead of isolating himself or pushing or biting them.

At three, he should be walking up and down stairs but his lack of muscle tone causes him to still use the banister.

At three, he should use a fork and a spoon but his hands are still his utensil of choice.

At three, he should be potty training but can only utter the word ‘potty’ with no idea of its purpose.

At three, he should be able to hug his parents and tell them "I Love You."

Instead, at just three, he’s held hostage by Fragile X.

I always wanted to be a mother - but this is not the life of motherhood that I signed up for. This is where the tears come in. We’ve had our ups and downs. We’ve been at the end of our rope. We’ve had a long stretch of not doing too bad. We pray he’s not one of the many Fragile X kids that develop seizures at the common age of five. We wonder how we will handle this if we are unlucky enough to encounter this in the future. Although I’m not one to feel sorry for myself, there have been times when I’ve felt like a battered woman wondering how many more of life’s fastballs I’m going to be able to hit out of the park. Sadly, I’ve got a few minor scars at the plate, yet the biggest scar won’t ever be seen with the naked eye, because it’s on my heart, which has been broken far too many times when I’ve been unable to help my son or think of how the future might treat him.

I want to be his hero but who will be my hero. The hero I’m looking for won’t be made of steel or have extraordinary powers. My hero is going to be that person or team that can improve the interventions that will help my son and others like him.
They’re going to be the men and women who have dedicated their life to science, attempting to unlock the mysteries of the human brain and the mystery behind Fragile X.

I don’t know what drives the Fragile X researchers or what’s behind their passion but I pray it never weakens. They’ve made remarkable breakthroughs since discovering the gene that causes Fragile X. They’ve made a medical breakthrough with the effects of a link between genetic mutations found in individuals with Fragile X and dysfunction in the metabotropic glutamate (mGluR) neurotransmitter system (the brain chemistry that allows cells to “talk to” each other).

Recently, noteworthy scientific breakthroughs included:

In a February issue of the journal, Public Library of Science Biology, the University of Wisconsin-Madison researchers reported that, in mice, the Fragile X mental retardation protein may regulate the material responsible for the plaques and cell death seen in the brains of Alzheimer's patients.

In March, the federal Food and Drug Association (FDA) granted an Orphan Drug Designation for an experimental new drug based on the metabotropic glutamate (mGluR) theory, that has the potential to reduce intellectual deficits and relieve the symptoms of Fragile X and will now go to human clinical trials.

I thought this was amazing and that Fragile X would finally make the New York Times. I thought there would be international news releases littered with information on Fragile X especially with all the autism press we've seen lately. Instead, the media focuses on Britney Spears shaving her head and the dysfunctional life and death of Anna Nicole Smith. It saddens me to think that one of the world’s leading causes of mental retardation, and a known genetic cause of autism, has relatively no public awareness, while other conditions are known in almost every household.

There is a strong possibility that this breakthrough will not only help those with Fragile X, but those with Alzheimer’s disease and autism as well. It would be a domino effect into a cure for other syndromes.

Fragile X researchers get little recognition, in the big scheme of things, and little funding. So why do they do it? They need to know that one mom (well many Fragile X moms) is counting on them. They are my heroes. They are the individuals who give me HOPE and keep my faith alive knowing that one day their research efforts will put an end to my heartbreak and provide a normal future for my son. Then, and only then, when I wake up at 5 a.m. I can worry about whether the coffee pot was set the night before or whether to hit the snooze button one more time.

In all honesty, I was never a big charity-giver before learning of Caden’s condition – out of sight, out of mind. I have since learned the importance of charity and have become the regional director for FRAXA, the Fragile X Research Foundation. I know we all have special charities or issues that are close to our hearts. I’ve given money to the Lance Armstrong Foundation as my mom and aunt both died of cancer. I’ve given to the Retts Syndrome Foundation because I work with someone whose little girl is affected. So if you want to be a part of a great charitable challenge for someone you know…be one of Caden’s heroes.

Doris Buffett, president and founder of the Sunshine Lady Foundation, has donated $500,000 to FRAXA, The Fragile X Research Foundation. Ms. Buffett has also promised to donate an additional $500,000, if FRAXA can raise $500,000 in new money by October 31, 2007. If you would like to help, please consider making a tax-deductible donation, in honor of “Caden Norton”.

FRAXA's mission is to find effective treatments and a cure for all children and adults with Fragile X. FRAXA has funded over $11 million in research at universities around the world.

To donate contact FRAXA at 978-462-1866 or donate online, or send a check made out to FRAXA Research Foundation, 45 Pleasant Street, Newburyport, MA 01950, with Caden’s name listed in the memo area.

Thank you.

***This was inspired by an email I read from another Fragile X mom - it felt so good to write and let out some of the things we tend to build up over time.

Welcome to Holland!

by Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability to try to help people who have not shared that unique experience to understand it, to imagine how it would feel.

It's like this... When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guidebooks and make your wonderful plans. The Coliseum, the Michelangelo David, the gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting. After months of eager anticipation, the day finally arrives. You pack your bags and off you go and several hours later, the plane lands. The stewardess comes and says, "Welcome to Holland."

"Holland?" you say. "What do you mean Holland? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy." But there's been a change in the flight plan. They've landed in Holland and there you must stay. The important thing is that they haven't taken you to a horrible, disgusting, filthy place full of pestilence, famine and disease. It's just a different place.

So you go out and buy new guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It's just a different place. It's slower paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around, and you begin to notice that Holland has windmills, Holland has tulips, and Holland even has Rembrandts. But everyone you know is busy coming and going from Italy, and they're all bragging about what a wonderful time they had there.

And for the rest of your life, you will say, "Yes, that's where I was supposed to go. That's what I had planned." The pain of that will never go away, because the loss of that dream is a very significant loss. But if you spend your life mourning the fact that you didn't get to Italy, you will never be free to enjoy the very special, very lovely things about Holland.

My POF Story

When we found out Caden's diagnosis, we went through the initial stages of shock and what do we do next. Once things settled down, we decided to come back to reality a little and realized that the next child we might have would have a 50/50 chance of being passed the Fragile X gene. So we researched PGD testing (preimplantation genetics) where to a 90% certainty we could go through the IVF process and have the embryos tested for Fragile X.

So we started down this road in the summer of 2005. The initial round of IVF blood work came back fine except for one little test for my FSH. This is the chemical that your brain uses to tell your ovaries to produce eggs. The normal 30 year old woman's count should be less than seven. A menopausal woman's count is near 45. I had two blood tests and they came back 19.5 and 25 respectively over two months. So blow after blow, we learn that I cannot have anymore biological children.

I sought another opinion a few months later and was turned on to the Genetics and IVF Institute where they do a procedure called Sperm Sorting. We basically would sort David's sperm to try for a girl (remember we still have a 50/50 chance of passing on the gene and girls are less affected). The price tag on this route was about $1500 per IUI (artificial insemination) versus $30,000 for the egg donor route.

We were too little too late and by the time I went in for my FSH screening in October, my count was now 45 - that of a menopausal woman - so my only options were egg donation or adoption. So we made an appointment with GIVF for the egg donation. You learn that waiting and patience are two key skills needed for any invitro process but especially with egg donation. I wanted an appointment that day but had to wait a couple of months for the initial consultation on January 31, 2006. Then after the initial meet and greet, I sat in a room with a book of potential donors. I felt like I was playing God determining which of these women could potentially be the biological mother of my future child(ren). You are instructed to select three potential donors and luckily GIVF gives you child and adult photographs. Of course the three I selected already had a laundry list of other recipients waiting and it was looking like we were at least six months out and that's if these donors didn't want a break. More waiting.

Finally April came and a lucky break (for me not the other woman). A donor was available immediately as her recipient had some medical issue and had to cancel her cycle. We screened the donor's paperwork and photos and something drew me to her. She had had three biological kids of her own, she was a daycare provider, seeking her degree and she looked like my mom. Instant good vibe and I was tired of waiting. I have the patience of a time bomb when I can't control something.

So we were heading into the process, just needed to sign the paperwork and pay the bill. We actually are still paying the bill as we had to take out a $25,000 fertility loan along with wiping out another $5,000 from our savings for medications. We chose to only try once. Why? The shared risk program was like 50K+ - yes it guaranteed us a baby, but the cost of going through this process at least four times (four cycles) was too emotional - I don't think I could handle that many failures. And we had just bought a house and with the chance of twins couldn't afford a 50K+ loan. So we put all our money on the table and spun the roulette wheel.

Now I'm not a lucky person, every once in a while I get a good parking space but I never win when I gamble - always have to make or earn my luck. So this was a huge decision for me - but the funny thing is, I had such a positive gut feeling where I'm usually the half empty type. My gut told me I would get pregnant on the first try, with twins, and it would be a boy and a girl.

Our donor produced 12 eggs on June 7, 2006 of which 10 were viable, 7 fertilized, and only 2 made it to the fifth 'blastocyte' day. Those two were implanted in me on June 12, 2006. Now we waited again. We had a 67% chance one would take, a 50% chance of twins and 3% chance of triplets.

Day 0 - Retrieval was June 7th
Day 5 - Transfer was June 12th
Day 10 - negative urine prego test (it was too soon)
Day 11 - 2 positive urine prego tests
Day 12 - positive urine prego test (just to make sure!!)
Day 14 - positive blood test June 21st with 325 count (high probabaility of twins)
Day 21 - positive blood test June 28th with 7125 count (even high probabaility of twins)

Three weeks later we found out there were two heart beats. I already knew it deep down but it was nice to have it confirmed. Then we waited again until week 20 to find out what colors to paint the nursery which ended up being lime green and royal blue.

On the day of the ultrasound which we had to re-schedule after another long story and had the choice of going in the day prior to our original appointment (Dave would not be able to make) or waiting another week. I was not waiting any longer. So I went to this appointment by myself. If you can imagine how exciting it is to find out the gender of one baby, I was busting finding out two. They told me the first baby was a little boy (Baby B) and it took them forever to find Baby A. All I was thinking was 'please - let it be a girl, we have a house full of penises' and the relief when the technician told me Baby A was a girl. Then the rest of the appointment took two hours so I was bursting to get on my cell phone of which I was able to call two people - my husband and my best friend before the battery went dead. In talking to my husband, I could feel through the phone his heart soften when he found out he was going to have a daughter.

So only 20 more weeks to wait to see them born, well only 18 more weeks with twins. I went out on modified bedrest at 28 weeks and spent 2 weeks getting things done then the 30 week mark came and instant misery. I didn't gain the weight in this pregnancy, but I got all the other side effects. Our c-section was scheduled for Feb 16th at 8:30 a.m. but the babies had other plans and my water broke at 12:30 a.m. on Feb 12th.

These miracle babies are the namesakes of their big brother Caden Bray. Braylin Faith was born at 5:55 a.m. and Camden John was born at 5:57 a.m.

We asked God for a miracle and he gave us two.

My Story (Authored December 2005)

Many people say, “I wish I had known then what I know now."

I wish I had known.

It started when Caden was nine months old and wasn’t reaching certain milestones such as sitting up or crawling. He had always been a ‘back-baby’ and not a ‘tummy-baby’ and I figured he lacked some of the upper body strength because he never wanted to be on his stomach. His pediatrician thought otherwise and was proactive enough to refer me to my county’s infants and toddlers program where Caden received occupational, cognitive and physical therapy once a week. This progressed and Caden would make small improvements, but not substantial enough that the program therapists recommended he see a Developmental Pediatrician, who evaluated him and then referred us to a Geneticist.

Scary to say the least. I looked back at my husband’s family history and mine and we had no sign of any abnormalities or genetic problems. We just thought maybe he was a little slower. Caden looks normal and for the most part acts normal. We always heard boys were slower than girls in milestone achievement. But this was not the case. We met with a great Geneticist and she evaluated Caden and ran the first round of tests. They all came back negative. We were relieved thinking, “well if her first instincts were wrong, maybe there’s nothing wrong.” Well we were proven wrong on the second set of blood work and we were lucky she only ran this test to check it off her list; she didn’t even think ‘he met the profile’ for Fragile X.

What a horrible phone call to get at work knowing something I carried in my gene pool was transferred to my son and now he would pay for it for the rest of his life. It was crushing. It’s every parent’s worst fear, except for death, that his or her child would be diagnosed as impaired or retarded.

No touchdowns, no applications to Duke or Harvard, no grandkids. My son was diagnosed with Fragile X on May 10, 2005.

Fragile What? Yeah, that’s what I said too. I had never heard of it. Fragile X is the most common inherited cause of mental impairment. It is also the most common known cause of autism. It is second to Downs Syndrome as the leading cause of mental impairment. Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source Centers for Disease Control (CDC)). About 1 in 259 women carry fragile X and could pass it to their children as I have. About 1 in 800 men carry fragile X; their daughters will also be carriers. Many carriers also face side effects. It is carried on the X chromosome, so women who are carriers have a 50/50 chance to pass it on to their children. Men only pass it on to their daughters.

There are two mutations of the gene: premutation and full mutation. Carriers have a premutation of the gene -- like I do --where there is no mental impairment but other side effects. My son has a full mutation, which means one gene has shut down causing delay and mental impairment. It is too early to say to what degree Caden is. Think of it as a bell curve with a normal IQ to the far right percentile and being institutionalized in the far left portion with the majority having a lower than normal IQ. Every persons X gene has a ‘repeat’ number. Normal people’s repeats are less than 55. Carriers like me, our repeats are 55-200 and once the gene mutates and repeats over 200, there is a full mutation. Caden’s count is 600, mine is 108.

Caden is the first in my family to be diagnosed. Remember where I said earlier that there are side effects associated with being a carrier, well I'm one of the lucky 20-28% of FX carriers experiencing Preovarian Failure or POF. Another lucky 25% of FX women carriers get early menopause.

I wish I had known.

Caden is the sweetest child in the world. We truly believe he was born for a reason. He melts everyone heart no matter where he goes, he has this smile that draws complete strangers in. I know everyone says that about his or her children, but he was put on this earth to touch people. And I’m starting to come to the realization that he was put on this earth for me to touch people as well.

Now that I know.

I’d like to help in the quest for a better life for our FX children and inform people like ‘me’ who could have known. I never knew this existed or that research now shows that 1 in 259 women are carriers. I wish I had known that for a couple hundred dollars for a blood test, I could have found out and made a more informed decision about planning my family or using other options available to me (i.e. PDG, egg donation, sperm sorting) or at least prepared myself going forward. My OBGYN told me not to drink or smoke and cut out caffeine, but I was not told about the leading cause of genetic mental impairment in the world and my chances of being a carrier. If there were a test for carrying Downs Syndrome, I'm sure people would jump at it. So why not offer a test for the second leading cause of mental impairment? It baffles me.

So back to reality.

If any of you know me well, you know I’m not satisfied with what’s handed to me. I always have to take on another project or do something. So, I went straight to the source. I contacted and went and met with the President and co-founder of FRAXA, the Fragile X Research Foundation. She was at a conference in DC in November and her organization has local chapters, there are about 12 nationally. FRAXA's mission is to find effective treatments and a cure for all children and adults with Fragile X. FRAXA has funded over $11 million in research at universities around the world since its inception in 1994. These local chapters typically run small-end to large-end fundraisers from yard sales to dinner galas. So I said, “I can do that.” I sort of almost had an epiphany that maybe this is the reason I went into the field of Marketing. Now I can use my experience and contacts for good versus evil.

I’ve become the Director of the National Capital and No. Virginia area Chapter of FRAXA and have done speaking engagements and fundraising such as buying the rights to the DC Hoop It Up basketball tournament in 2006 and selling sponsorships to raise money. I've also taped a 5-minute segment about Fragile X that ran on via Comcast on CNN news.

If you know anyone who would be willing to hear my story and either tell it or sponsor it, please let me know. My goal now is to find a cure and we are only one gene away. The latest research has been so positive, so anything I can do to raise the next batch of research might put them over the hump and get a cure for my son.

Thanks for listening and feel free to share my story.

Lindee Norton