Should bad genes = no more kids? - Part 3: reaching out

We talked to other CF parents. One family we know decided to go ahead with more children despite the risks. Their next child was born with CF. They were plagued by feelings of guilt, pain and anguish but they, like us with Katie, have been comforted by the tremendous love, support and gifts that children bring.

We started reading. We stumbled across a blog post written by a guy in the US by the name of Ronnie "Sickboy" Sharpe. Ronnie has CF. He's in his twenties. He blogs about CF at runsickboyrun.blogspot.com. Ronnie's post, entitled, Parents, would you roll the dice with CF? caught our eye. In that post, Ronnie explained the debate and he asked:

What would your decision be?

Would you have more children?

CFers, how would you feel if you knew your parents made that choice?

Any parents out there struggling with this very issue?

The comments were inspiring and comforting to us. Parents offered differing views. But what stood out the most were the comments from other CF patients. One comment stood out for me:

As a CFer, I would never say life isn't worth living because of cystic fibrosis. EVERY LIFE is worth it and although it is difficult, it makes you a very strong person and gives the people around you a different take on life. I don't think it is fair for anyone to have a sick child, but I think it opens up people's eyes and touches a lot of lives when they do..and I think the world needs that perspective.

I face the same issues with having a child myself, although my husband is not a carrier, it means my child will be and the gene will continue on. But does that mean that I should be denied the chance to be a mother? I don't think so. As long as you can love and care for a child, illness or not shouldn't be a factor.

This captures the essence of it for me: "EVERY LIFE is worth it."

Next up: Part 4 - the larger ethical debate

Team Katie - Great Strides 2010 results!

Folks,

Just wanted to send out a big thank you to everyone that made this year's Great Strides Cystic Fibrosis fundraiser a HUGE success. Julie and I continue to be overwhelmed by the tremendous outpouring of generosity and encouragement towards this cause. Your contributions, support, prayers and encouragement have been extremely uplifting to us.

The day was fantastic. The weather was perfect. The kids had a blast. And the event was a success.

Some numbers from today:
Total money raised for the Canadian Cystic Fibrosis Foundation = $1,743,943+
Total money raised for the Niagara-Hamilton Great Strides Walk = $82,359+
Total money raised for Team Katie = $13,293
Total sponsors for Team Katie = 210
Total Team Katie walkers yesterday = 53

You can see a slideshow of some pics from this weekend's event here:
http://www.flickr.com/photos/toddhdow/sets/72157623622801160/show/

And, the complete flickr photo stream of the event is located here:
http://www.flickr.com/photos/toddhdow/sets/72157623622801160/

If anyone else has pictures from the event, please leave a comment to this note, providing a link so that others can see your pictures as well.

Again, we thank each and every one of you for helping Katie get closer to a much-needed cure for this terrible disease.

Much love,

Todd, Julie, Noah, Katie & the bump (yup, still no baby!)

Should bad genes = no more kids? - Part 2: our circumstances

Once Katie was diagnosed with CF, genetic testing was done to identify the defective genes that she adopted from Julie and I. In our case, Katie has the most common mutation, "double Delta F508". This meant that Katie received the same defective gene from both of us, "delta F508". Thus, Julie and I are both carriers of the problematic "delta F508" gene.

Noah was tested for CF as well. His sweat test result came back negative for CF. But, he has not been tested genetically yet. Like this discussion, there are ethical questions surrounding genetic testing in general. So, we've decided to let Noah make the decision to have further genetic testing when he's older and understands the ethical issues involved.

When Katie was first diagnosed, we immediately thought that we'd never have more children. This was difficult to accept because we had long thought that we would have a third child. But, for the first few months, we simply accepted the fact that we would not have more children due to the increased risk of CF with subsequent children.

But over time, as we learned to accept CF in our family, we started getting back to a normal family routine. Part of this routine included discussing our options for a third child. We had several options to consider:

• adoption
• in vitro fertilization
• surrogate carrier
• natural conception
• simply stop at 2 kids
• other - I'm sure I'm missing some options

As we considered the options, cost, timing, effort involved and ethical considerations conspired against us.

We didn't have the money to pursue some of the options: IVF looks like a $10K+ undertaking. And, IVF has some ethical considerations as well. What do we do with the leftover embryos, for example? We weren't comfortable with the destruction, freezing or donation of unused embryos.

We didn't feel ready to consider adoption.

And, we weren't comfortable with having a surrogate carrier.

So... our options were limited. We weren't quite sure what to do.

Next up: Part 3 - reaching out

Should bad genes = no more kids? - Part 1: background

We are expecting our third child any day now. This is an exciting time for us. And, for a while, it was a difficult time as well. Why? Because the odds are 1 in 4 that this baby will be born with Cystic Fibrosis.

Some would consider us reckless or ignorant. Others would call us brave or compassionate. And others may think that we are simply crazy.

But I ask… what would you do?

First of all, here's the science behind this debate:
Cystic fibrosis, a genetic disorder, is present from birth. CF occurs when a child inherits two defective copies of the gene responsible for CF, one from each parent.

Approximately one in 25 Canadians is a CF carrier, carrying only one defective version of the gene responsible for cystic fibrosis. Carriers do not have, and can never get, cystic fibrosis. In most cases, they are not even aware they are carriers.

When two carriers have a child, there is a

• 25% chance the child will be born with cystic fibrosis
• 50% chance the child will not have CF, but will be a carrier
• 25% chance the child will not have CF and will not be a carrier

With each pregnancy, the risks are exactly the same. Two carrier parents may have several children with cystic fibrosis or none at all.

Thanks to the Canadian Cystic Fibrosis Foundation for the above info. source)

Next up: Part 2 - our circumstances

Should bad genes = no more kids? - Prologue

In this series, I'll be touching on an ethical debate within the CF community - should CF parents have more children? This is not unique to CF though. Other genetic diseases like Sickle Cell Anemia and Huntington's Disease struggle with this same question. Here's an overview so that you can follow along:

• Part 1 - background
• Part 2 - our circumstances
• Part 3 - reaching out
• Part 4 - the larger ethical debate
• Part 5 - our choice

Feel free to leave comments. Discussion is encouraged.

Thanks!

Todd

Help us find a cure for Cystic Fibrosis

Folks,

As many of you know, my daughter Katie has Cystic Fibrosis. Katie was diagnosed with CF on September 30 2008. She was 17 months old at the time.

On Sunday May 30 2010, the Canadian Cystic Fibrosis Foundation will be hosting the annual Great Strides walk for cystic fibrosis. We will be walking and invite you to join us for this annual event.

Please watch our video, Katie - Great Strides 2010, which provides a window into our world.

CF, which affects the lungs and the digestive system, is the most common, fatal, genetic disease affecting Canadian children and young adults. Forty years ago, most children with CF did not live long enough to attend kindergarten. Today, half of Canadians with CF are expected to live into their 40s and beyond.

While life span has improved for patients with CF, quality of life is still an issue. Daily treatments, medication, clinic visits and health challenges are always present. When Katie is healthy, we do two treatment sessions a day with her. When she is sick (cold, flu, etc.), we do three or four treatment sessions with her.

Here’s a brief list of her regular medicine intake and treatment regimen:

• approx 20 pills a day (enzymes - they help Katie digest food);
• vitamin supplements twice a day;
• 2 to 4 Pediasure nutrition supplement drinks each day;
• Nebulizer + medicine - basically, a mist mask that Katie wears twice a day for 15 minutes each time;
• Percussion treatment - 15 to 20 minutes of hitting her chest and back - twice a day;

Plus, the following “specialty items” when she is sick with a cold, flu or other sickness:

• Oral antibiotics;
• Additional medicine in her nebulizer from time to time as her health dictates;
• Additional nebulizer and percussion treatment - typically 3 or 4 treatment sessions a day when she’s sick;

Each year, on the last Sunday in May, friends, family and co-workers of people with cystic fibrosis participate in “Great Strides”, which is the Canadian Cystic Fibrosis Foundation’s largest national fundraising event. Walk with us on Sunday May 30 2010.

To assist, you can:

1. Donate money;
2. Donate and/or collect pledges and Walk with us on Sunday May 30; and/or
3. Recruit others to join us in this fundraising event;

To join our team, “Team Katie”, and walk with us on May 30 at Safari Niagara in Stevensville, click here:
http://my.e2rm.com/TeamPage.aspx?teamID=146408&langPref=en-CA

To sponsor Katie directly in her fundraising efforts for Team Katie, click here:
http://my.e2rm.com/personalPage.aspx?registrationID=889262

We thank you for your support. Our wish is that one day, CF will stand for “Cure Found”.

Thanks!

Todd, Julie, Noah & Katie Dow (and the bump - Dow baby #3 is due any day now!)

Cystic Diagnosis Part 7: First clinic visit at McMaster

Tuesday October 14 was our first clinic day at McMaster. We met with our CF doctor (Dr Pedder), primary nurse (Val Carroll) and the rest of the CF team (a dietician, who is very important for keeping up Katie's body weight, a physiotherapist for coaching us on Katie's physical therapy (for now, that means chest percussion) and others.

The meeting was quite overwhelming. For the doctors and clinicians, this is their everyday routine. But for us, it was foreign territory. Needless to say, we were emotional, nervous and preoccupied. It's a wonder that we remembered anything from that first visit!

Dr Pedder was fantastic - she did a thorough health history of Katie and she asked about our family health history. Val was fantastic as well. She gave us a thorough overview and demonstration of the nebulizer (the mist machine that Katie uses daily) along with an overview of all of the medicines that Katie now consumes daily.

From there, we were sent off to the pharmacy to pick up Katie's meds. The CF clinic ordered the meds from the McMaster pharmacy on our behalf. We then went to the on-site pharmacy to pick up Katie's medicine. I waited patiently in line. Julie took Katie and occupied her in the lobby of the hospital. My turn came and they passed me a large bag full of medicine. They then explained each drug to me in detail.

The pharmacist then said that that's it... we're done. Goodbye. I was puzzled... I had to pay, right? I asked, and she said no. The entire cost is covered by our provincial government as part of their CF support program. I was floored. CF can cripple families financially. But thanks to the Ontario government, the bulk of Katie's medications are covered. (I'll write more about this in a separate blog post in the future).

I left the pharmacy almost in tears. I had a big bag of drugs, at no out of pocket cost to me. I kept thinking that Katie had this terrible illness, while at the same time, being so overwhelmed with the level of care, support, professionalism and compassion being shown us at such a difficult time.

So... off we went...

We were told to start her treatments immediately. All of this was overwhelming, but necessary. Katie's health was priority #1. And, the treatments improved her breathing quite quickly. Within a matter of days, she was breathing much better. Her colds lessened in severity and frequency quite quickly and she started sleeping better through the nights.

So... from start (August 22) to finish (October 14), the entire process tool less than 2 months. It was a whirlwind.

This concludes this 7 part series. Thanks for following along. Stick around. I'll have more posts shortly.

Todd, Julie, Noah & Katie (and the bump - Dow Baby #3 is due any day now!)

Cystic Diagnosis Part 6: My nightmare the night after the diagnosis

The night after we received news that Katie had cystic fibrosis, I had a nightmare. Here are the notes that I took that morning after I woke up:

I dreamt that I heard Noah calling me from outside. Now I am frightened that I may lose both of my children…

It was a faint crying, calling out. I thought that it was one of the neighbours. But, I looked out the windows (bedroom & bathroom), trying to see if Noah was there. I didn't want to check on him in his room in case I woke him.

But, I had this horrible fear that he was sleepwalking or just walked out the front door on his own. I envisioned him stuck outside, curled up on the porch or field beside the house under the big tree, curled up in a ball, freezing.

I had a sense of panic, as if I was too late to save him from freezing. It was all I could do not to panic.

It was pretty upsetting. I was already worried about Katie's mortality. And now, I was also worrying about Noah's mortality as well. I felt so helpless. I felt so afraid. I felt frustrated. I felt scared.

I was processing what CF meant to Katie and to our family and it scared me. As a father, I am supposed to protect my family. But, in this case, I felt that there was nothing I could do. I'm not a doctor. I don't have a cure. I don't have the means to fund a cure.

It took a while for this cloud to lift. But it did. The cloud comes back once in a while. It is what it is. Can't do much about it.

Up next: First clinic visit at McMaster

Cystic Diagnosis Part 5: Diagnosis

On Tuesday afternoon (Sept 30) just after noon, Julie called me at work, crying. She said the CF clinic just called, and Katie's results came back positive for CF. I took the afternoon off. Shortly after I got home, the Celiac doctor (the one that referred us to the CF clinic) called us from his cell phone. He was in Israel on the last day of a vacation and he felt the need to call us to reassure us that even though the results were positive, there was reason for hope. He said he would be back in the office the following day and he would follow up with another phone call then.



The next day (Wed Oct 1), the Celiac doctor called us from his office at McMaster. He explained what the positive result meant:

• Katie most likely has CF.
• There are few, if any, false positives.
• But, they'd do another test to make sure.
• He explained that CF isn't as scary as it once was.
• Half of CF patients now live into their 30s and beyond.
• And, he said that the daily regimen of treatments has been key to the increased life span (only 20 years ago, the median life span was only 16 years of age).

Our lives changed in an instant that day. We entered into a period of mourning for a number of days. We were devastated. We were fearful for what this meant for Katie. We were fearful for what it meant for us as a family. Noah, only 19 months older than Katie, would be impacted by this as well.

We surrounded ourselves by those that could offer comfort during those first few days after the diagnosis. Our immediate families, friends and our extended church family became our strength in those first few days and weeks after the diagnosis.

We did our best to put on a brave face though... just two days later, on October 2, we hosted a large family gathering to celebrate Noah's 3rd birthday. Life had to go on. We couldn't deprive Noah of joy during this time. So, we did our best to celebrate his birthday on his special day. We did have a good time, but, it was the first time that we had to address having a good time while having sad thoughts always lurking in the background.

Next week, I'll conclude this series with a couple of posts on the days following the diagnosis.

Thanks for reading and talk to you next week.

Todd

Cystic Diagnosis Part 4: Sweat Test at the CF Clinic

On Thurs Sept 25, we visited the CF clinic at McMaster Hospital.

Sweat Test machine at McMaster

The clinic at Mac was fantastic. The CF test itself is pretty archaic, but, apparently, it's also extremely accurate. They refer to Mac's test as "the gold standard". And, I've been told that if you get a CF test, McMaster is the place to get it. Other hospitals do the test, but, even if their results come back positive, they still send you to McMaster to "make sure". The test involves measuring the amount of salt in the patient's sweat. It goes like this:

1. They clean the person's forearm with alcohol or some other cleaning material.
2. They put a metal plate about the size of a credit card on the arm. They connect this metal plate to a big battery-sized device that looks like a radio from WWII. This machine sends an electrical pulse through the arm, stimulating it and making it sweat. This happens for approx 5 minutes.
3. They take the plate off and they put a piece of sterile gauze on the arm, cover it with a plastic bandage and wrap the whole thing in a towel and tape the towel over the arm.
4. You go hang out for a 1/2 hour, while the arm sweats and the sterile gauze soaks it up.
5. Go back into the clinic room where they take the gauze off and send it off for testing.
6. Done. Pretty simple.

NOTE: none of this is uncomfortable for the child. At most, the person will wonder why the plate is buzzing on their arm.

They told us that the results would be available quite quickly - our doctor would likely get the results back the next day (which would have meant Friday Sept 26 in the afternoon) but we likely wouldn't hear back until the next week, as it takes doctors FOREVER to follow up on this stuff.

So... we spent a really long weekend worrying. Me, not so much. I was in denial that this would be something we'd have to deal with. Julie was panicked though. She was certain that Katie had CF. She called it "Mother's intuition".

Monday, still no word. Our doctor hadn't heard. The clinic was unreachable. We started to get puzzled as to why it was taking so long.

Up next: Diagnosis

Cystic Diagnosis Part 3: Family Doctor & Celiac Clinic

McMaster Children's Hospital

Picking up where we left off, Julie visited our family doctor the following Monday (Aug 25). The doctor reiterated #s 1 to 3 that we were told at the emergency room the Friday prior:

1. It's random. It won't happen again. Don't worry about it.
2. Celiac disease - dietary disorder where the body can't digest wheat properly.
3. Cystic Fibrosis - but... the odds are quite low on this, so don't worry about it.

And, the doctor also repeated her earlier statement that it likely wasn't CF, because Katie didn't have any of the other symptoms.

So... our family doctor booked us to visit the Celiac clinic at McMaster Hospital. We went to the Celiac clinic on Thurs September 11 2008. The clinic took some notes. They examined Katie. They took some blood. And they also spent a fair amount of time looking at her body - looking back, we can now see that they were considering whether she had "failure to thrive".

Funny enough, at that time, she had started to look a bit small. It wasn't a huge deal, but we were starting to notice her slipping a bit in how skinny she looked. This was strange, as she was a pretty chubby baby. We look back at baby pictures and she was always a pretty good weight. But, around the time we started to have her tested for Celiac and CF, she started to look thinner.

Celiac results came back a week or so later - I don't have the exact date for that handy. Negative. She did not have Celiac disease. We were down to two options at that point: The prolapsed rectum was a random thing, or, we were looking at Cystic Fibrosis.

Next step: test for CF. The Celiac clinic booked that appointment for us for Thurs Sept 25.

Next post: Sweat test at the CF clinic

Cystic Diagnosis Part 2: Warning Signs

Katie's symptoms were subtle at first. She had colds that took a long time to shake. She had a hard time sleeping at night when she was sick with colds. Looking back, before her diagnosis, she had a LOT of sleepless nights. She was diagnosed at 17 months of age, and up until that point, Julie and I both wondered when she'd start sleeping through the night on her own. We felt that it was taking forever for her to do that.

But, that in itself wasn't a big deal. We repeatedly asked our doctor (who had been a pediatrician prior to going into family medicine) if she thought Katie's constant colds were cause for concern. Our doctor said no, because most kids will get up to 10 colds a year. It didn't seem unusual. Looking back, we didn't have any cause for concern as Katie wasn't exhibiting any of the other symptoms when she was younger (under a year old)... symptoms like failure to thrive, constant appetite, underweight, etc. So, we didn't worry about it much.

As well, she has always had a bit of a big belly. Nothing too major, but her belly has always been pretty big compared to the rest of her body.But, that's not really a big deal and she'll likely grow out of it.

The one other symptom that we had always noticed, but didn't pay much attention to was her poop. It was always really smelly and some of her food seemed to come out pretty undigested. But again, looking back, we didn't clue in to this until after the diagnosis.

Then, on Friday August 22, I was changing Katie's diaper and she had some kind of a brown walnut shaped thing coming out of her bum. I called Julie into the room. She didn't know what it was either. So, we bundled her up and Julie took her to emergency.

Note: Katie wasn't uncomfortable. It didn't seem to hurt her.

Julie FINALLY saw the ER doctor after waiting in the ER for about 4 hours. By that time, the walnut sized thing had disappeared. The doctor told Julie that it sounded like a prolapsed rectum. The doctor said it shouldn't be a cause for concern, but to go see our family doctor the next week to investigate further. The doctor said prolapsed rectums are typically caused by one of three things:

1. It's random. It won't happen again. Don't worry about it.
2. Celiac disease - dietary disorder where the body can't digest wheat properly.
3. Cystic Fibrosis - but... the odds are quite low on this, so don't worry about it.

So... we waited through a long and agonizing weekend before booking a visit with our family doctor the following week.

Next up: family doctor & celiac clinic

Cystic Diagnosis Part 1: Intro

My daughter Katie was diagnosed with Cystic Fibrosis on Tuesday September 30 2008. Life changed for our family that day.

This post series is a documentary of our family’s experiences in the time leading up to that diagnosis. Writing these posts have been a cleansing experience for me. Putting my thoughts into words is helping me to process our predicament. And it is also helping me to focus on next steps.

My goals for writing these posts are two-fold:

• First, I hope to offer encouragement to other families that are faced with difficult health issues. Whether the struggles are Cystic Fibrosis or something else, there is a common understanding when we face our mortality and that of our loved ones. We share the same hopes, fears, dreams and disappointments.
• Second, I hope to raise awareness for Cystic Fibrosis. Much has been accomplished, but there is still much to be achieved. I feel that we’ve measured how deep and wide the Grand Canyon is, and now in order to reach the other side we need to either build a bridge or fill it in. Uncovering the genetic source of the disease and enhanced treatment options to slow the progress of the disease have significantly improved the lives of CF patients. But the end goal remains elusive.

I’ve been told that we’re fortunate. “At least she’s doing okay.” “It could be worse.” And my personal favourite, “She doesn’t look sick. Maybe she’s got a less severe kind of CF”. Most days, I tend to agree. Katie is doing well. She’s a little spitfire. She’s stubborn, tenacious and above all, she’s healthy. For now. But the truth is, she is sick. She needs her daily treatments. Without them, her health will degrade in a hurry. And, unless a cure is found, she will likely die from this disease at a younger age than any of us would like. And for the record, no, there is no "less severe kind of CF".

But… for now, it’s not as dire as it sounds. Things COULD be worse. And she IS doing okay. But the question remains: for how long? We live every day in denial. Maybe CF won’t catch up with Katie. Maybe she will be one of the lucky ones that lives a full life, growing into adulthood, getting married, having kids, having grandchildren. Hopefully.

In the meantime, we live each day to the fullest. We enjoy our time together as a family. We learn as much as we can about CF. We pray for a cure sooner rather than later. We fundraise and raise awareness in the hopes that it will make a difference. We do her treatments religiously. And we thank God for the time that we can spend together as a family.

Follow us for the next few days as we share our personal story of learning and accepting Katie's CF diagnosis.

Here is my post schedule for this series:

1. Intro (this post)
2. warning signs
3. family doctor & celiac clinic
4. Sweat test at the CF clinic
5. Diagnosis
6. My nightmare the night after the diagnosis
7. First clinic visit at McMaster

I'll try to provide a new post in this series every weekday until it's complete. Be sure to check back daily.

Talk soon,

Todd

May is Cystic Fibrosis Awareness Month

Folks,

Just wanted to remind you that May is Cystic Fibrosis Awareness Month. Please do your best to help raise awareness to help fight CF. I'm personally raising awareness by blogging, fundraising and participating in the Great Strides walk on Sunday May 30 2010 at Safari Niagara in Stevensville Ontario.

What are you doing to help raise awareness and to help fight CF? Drop your comments below. And, send others to this site as well.

I haven't posted much over the last month. That's gonna change for May. I'm putting the finishing touches on a series of posts, entitled, "Cystic Diagnosis". In this series, I'll be sharing our personal diagnosis story. When we found out that Katie had CF. The process that took place to verify things. How we responded. etc.

And, I'm also going to fit in a post series on bioethics. As many of you are aware, we're expecting our third child. Our daughter has CF. That means that Julie and I are both carriers. That means that Dow baby #3 has a 1 in 4 chance of having CF. Plenty of thought went into the decision to have a third child. We'll share a bit of our thinking on that one. And, Dow Baby #3 is due this month (due date = May 27 2010). So... this bioethics series will be especially timely.

Thanks and stay tuned!

Todd