Tag: Cystic Fibrosis

  • 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:

    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!)