Felix’s Condition and Treatment: An Explanation

Felix in hospital
For those who wanted a better understanding of Felix’s condition, and the treatment options we’re exploring, here’s a more detailed explanation. This is my understanding of it, from a totally non-medical perspective, so you’ll have to forgive me if some of the details are slightly off.

So as you know, Felix was diagnosed with severe combined immunodeficiency (SCID), which was caught via newborn screening.

SCID is a genetic disorder that Felix inherited from us — Ben and I, it turns out, are both carriers. SCID is actually unusually common among the Mennonite population, though I’d never heard of it before Felix was diagnosed.

There are 10-15 different kinds of SCID, and Felix has the most common and most serious kind — SCID ADA. A mutation in his chromosomes prevents his body from creating ADA (Adenosine deaminase), an enzyme required to make T-lymphocytes, which are needed to fight off infections. The initial blood test showed that he had almost no T-lymphocytes.

On other words, Felix has virtually no immune system. As a result, even bacteria, viruses and fungi that pose little problem to the rest of us can be deadly. Something as ordinarily harmless as the herpes simplex virus (i.e. cold sores) can kill him. If left untreated, babies with SCID don’t make it to their second birthdays as a result of frequent and serious infections.

That’s why for now, Felix is in isolation in the hospital, so that he can’t catch anything. He’s also being treated with antibiotics for the (so far mild) infections he did pick up in his bladder and lungs. He also needs to be on a really low dose of oxygen right now, because his breathing is slightly impaired from the infection. His eating has been affected as well, so that he may need a feeding tube if he doesn’t improve.

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Treatment Options

The most effective and long-term treatment for all forms of SCID is a bone marrow transplant (BMT). This treatment essentially involves taking the working immune system of a healthy person and transplanting it into the patient. The patient must first undergo chemotherapy to wipe out any of his original immune system and to “make room” for the new one.

By far, the most effective BMT involves a matched sibling. If the sibling is a match, a transplant typically has an 85% success rate. I have come into contact with two families who have experienced miracles thanks to sibling transplants. Lydia (along with me and Ben) was tested two weeks ago to see if she was a match. This was our greatest hope.

Unfortunately, we got the news on Wednesday that she’s not a match. (Ben and I weren’t even close.) We were devastated to get the news. Now we have to look at other options. Fortunately, there still are a few.

First, because Felix has ADA SCID, he can actually receive injections of the missing ADA enzyme. Now that we know a sibling BMT is not an option, we are pursuing that option immediately, and hoping he can start getting the treatment in the next week or two. Most patients begin to improve after a month or so as the immune system builds up, and we’re hoping to see his lungs and his eating improve enough that he won’t need oxygen or a feeding tube. If he gets healthy enough, we might actually be able to take him home in a few months!

However, ADA injections are generally only effective for a year or two, at which point they begin to wear off. So we still need to look into long-term solutions.

The first is a BMT from an unrelated matched donor. Because we’re Mennonite, we actually have a pretty good chance of finding such a donor — there are many in the bank, in large part because many Mennonite children have already been affected by SCID and their families tested. We’re more likely to find a match within our own ethnic group. Unfortunately, though, the success rate for BMT’s with unrelated donors is a lot lower — it has typically been more like 50-70%. (Our doctor pointed out, though, that these figures all come from children who were very sick at the time of the transplant. Felix is the first to have been caught before he was very sick. He has an enormous head start.)

The biggest problem with all BMT’s, but especially unrelated ones, is that the healthy new transplanted cells can attack the patient in what is called graph-versus-host disease.

So another option for SCID ADA patients is something called gene therapy. It’s a very new, cutting-edge, experimental kind of treatment that involves using the patient’s own bone marrow. It’s a modification of a BMT that attempts to avoid graph-versus-host disease: bone marrow is taken from the patient, the genes are corrected, and then transplanted back into the patient. This treatment is only being done in three places in the world: Los Angeles; London, England; and Milan, Italy.

Because it’s so new and experimental, it’s hard to say how successful it is, though I’m told the outcomes look good. The other advantage is that the cost of treatment would all be covered, since the researchers want more opportunities to try it.

So these are the options we’re considering. We have a few months to learn more about them and decide. Obviously, they’re all terrifying, as they all involve risking our child’s life. It’s difficult that we have to grapple with percentages of survival.

As of right this moment, though, we’re feeling hopeful. At least there are options. (Our feelings could be different by tomorrow).

And for now, Felix is still doing quite well. He’s a pretty content guy, sleeping a lot but with plenty of alert time, and he’s easy to soothe when something upsets him. He’s handling all of this stuff amazingly well.

And we’re just so grateful for the amazing people — doctors, nurses, family, and friends — supporting us through this all.

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Comments

  1. We will keep praying for sweet Felix, Kathleen!
    Haley @ Carrots for Michaelmas recently posted..What I Read in 2014My Profile

  2. Hi, Kathleen,

    I’ve been thinking and praying for you so much–thank you for posting this update! The strength of faith you display in these posts is simply breathtaking.

    I’ve been reading your blog for years and have always kind of imagined you as myself a couple years down the road–oh, how I would love a country home with kids and chickens. I can only hope that, if I am ever tested in the way you are, I can have the same faith.

    My husband and I have been praying for you and your family, and we’ll also pray to St. Nicholas, our patron protector of children (we’re Eastern Orthodox, so we are also thankful for the prayers of the saints :)

    God bless you guys!
    PS: Um, can we just talk about what a sweetheart Felix is?! I showed the second picture to my husband and both our hearts just melted. Oh, those eyes!!

  3. Thank you for taking the time write all of this out. It’s helpful in understanding what all is going on with his condition. I will pass this on to as many people as I can think of for prayer. Thinking of you guys especially in these days at Christmas time. So much love and prayers and light to you. xoxo. Beth
    Beth recently posted..50+ Decadent & Nourishing Holiday Brunch RecipesMy Profile

  4. You are in pour prayers. All of our positive energies goes to you and you family. Such a steessfull moment… stay positive. All will be well.

  5. Thanks for sharing. Sending love and prayers.
    Praying for a miracle

  6. Felix is just so adorable!!! Praying for strength for all of you, and most of all for successful treatment.

  7. My heart goes out to you, prayers that sweet Felix will find a successful treatment.

  8. I am so sorry you have to go through this! I am praying that he gets better! I can’t imagine what you’re going through. Plus, your body and hormones adjusting from being pregnant on top of it. It’s hard. It must all be so overwhelming. You’re doing so good trying to learn everything you can about SCID ADA because eventually it will help little Felix in the long run. (Plus, others get to be educated as well!)

    I have also been reading your blog for a few years and I enjoy your perspective on life. I’m just a Mormon girl all the way from Salt Lake City, Utah! I have a 14 month old baby and I know how hard it is to see your children endure difficult trials. Although we have different faiths, we still believe in the same God and I pray he will help you through this difficult time. Merry Christmas to you and your family.
    Terri recently posted..The 1st of Many Bike RidesMy Profile

  9. This was so informative and detailed. Thank you for including this in your blog.

    I’m so sorry that a family match wasn’t found. I can’t imagine the disappointment. I’m glad to hear there is hope in other options.

    I love these pics of Felix. He is the cutest little bugger. :-)

    We are continuing to pray, Kathleen. Much love from Wisconsin.

    Zoé

  10. I missed this update. I’m so sorry to hear about Lydia not being a match. I was wondering, can we be tested to see if we are a match?
    alison recently posted..He is exactly the same.My Profile

    • Hi Alison! The doctors explained it this way: we should definitely encourage people to get tested and be put into the “bank” of potential bone marrow donors, but not for Felix’s sake specifically — the odds of finding a match among our friends and family are almost nil. But you could potentially help another child, and the more people in the bank, the better they can match donors in general. Thanks for asking! I’m glad I’m now in the bank. I wouldn’t hesitate to donate my bone marrow if someone needed it.

  11. Great point. Thanks for explaining that. I guess unfortunately sometimes it takes this happening to someone close to you whom you love to realize the importance of these technologies.
    alison recently posted..He is exactly the same.My Profile

  12. I’m so sorry to hear Lydia isn’t a match. :-( Praying that one of the other treatment options will be successful. He’s so sweet and cute! Praying for you guys.

  13. Katharine says:

    Praying for you and your beautiful precious baby <3

  14. Sending positive thoughts and prayers to you and your family.

Trackbacks

  1. […] Best Blog by a Non-Papist: Some great ones here. But seems like a great time to mention our Mennonite friend Kathleen whose blog Becoming Peculiar made the list. Please pray for her baby boy, Felix, who is critically ill with a rare disease. […]

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