Waiting Game – Daniel Syndrome

I am realizing it has been a while since I last posted, and I am sorry I haven’t kept up with it as much as I really wanted to. The truth is the further along in my pregnancy, the more exhausted I am, and the less energy or brain power I have after Daniel goes to bed.

I thoroughly appreciate all of the love and support we have received from everyone reading and following along with this blog.
Since April, we have returned to Toronto a number of times to meet with Dr Schneider, we have had multiple encounters with MAS, and we feel a bit like we are running in circles.
As I wrote about in my last post if and when Daniel gets a fever we have a process to follow: pick Daniel up, call Dr Gibson, Dr Gibson calls emergency, blood work is done, Daniel goes back on steroids. What has happened over the last few months is this…
  1. Daniel is on steroids to control the MAS
  2. Daniel’s blood count begins to improve, Daniel looks well
  3. Daniel comes off steroids
  4. a few weeks later Daniel develops fever and rash
  5. Daniel goes back on steroids
…and around and around it goes…have I reiterated enough how much I hate steroids!! Daniel gains weight, is uncomfortable, irritable and miserable. But its either that or we are at risk of losing him to the MAS. So I am sure the question on everyone’s mind is, how do we fix this? When will we get answers? If you aren’t thinking it, then rest assured that’s what I am thinking too.
Mid-may, we traveled to see Dr. Schneider in Toronto to hear about results from the tests they sent to the States for the NLRC4, (that’s the new ground breaking research they were working on, that potentially links CAPS disease and MAS). We were excited and anxious about the answer! Dr. Schneider felt pretty confident that this must be it, and from here we can work on an additional treatment.
We sat down with him, and through the sound of Dexter screaming we talked.

The results were negative.
We were shocked and disappointed. How could they be negative? It seemed to fit everything we were facing. Through a fog of disbelief, I listened as Dr. Schneider explained that they really had no clue what the issue was – that this was something that has never been seen before. The only next step they could take was to do a full genetic profiling of Daniel, Will and I and see if there was anything out of the ordinary.
Genetic profiling is a long process, so unfortunately any diagnosis has turned into a waiting game. After we left, Dr. Gibson and Dr. Schneider met together, as they felt that there needed to be more doctors in London who were aware of Daniel’s situation. They arranged to come down and set up a meeting/training session with the pediatric oncologists in London on how to handle Daniel’s case. They also agreed that if a potential treatment for MAS on its own for “regular” cases was bone marrow transplant, that being prepared for that as a potential future option would be proactive. They would start the genetic profiling right away, and they agreed that we would continue to follow the same regime to protect Daniel from the MAS in the meantime.
So, the steps we are taking to figure out what the Daniel syndrome is
  1. Do a full family genetic profiling
  2. Save cord blood from Daniel’s sister to potentially use stem cells as a source for bone marrow transplant in the upcoming year
  3. Continue taking necessary precautions when fever and rash occur by treating with a combination of steroids and anakinra
  4. Wait…
We are doing our best to be patient. The truth is it’s been hard, especially when we are home with Dexter. It sucks, because one minute things look positive and we have are happy smiling boy and the next, we are back in hospital.
Luckily, we have learned to be a support for one another. Will and I have held tight to each other through this, so we can be the best parents we can be to this special little guy. Our faith has also played a huge role in this – sometimes when we feel utterly helpless we know we can always pray. It’s hard, we have faced a lot of stress, particularly the financial strain of driving back and forth to Toronto, the expenses of parking and food, and for those of you who don’t know, the cost of privately banking umbilical cord blood. Thankfully, with the support of the doctors and medical assistance coverage it is not so severe, so having approval for that is a huge blessing, but it still does not cover the whole cost.
Despite the difficulties, we have been blessed: we are together, we are being supported by an amazing team of doctors who are working really hard to help find answers, and we have each and everyone of you who are taking the time to read and pray with us.
We know it will still be a rough road ahead, especially with two little ones. This pregnancy has been incredibly hard at times too. As a little side note, my OB is concerned this baby girl may also come early just like Daniel did. In that pregnancy, my water broke at 30 weeks, Daniel was born at 32 weeks and 2 days, and we spent 20 days in the NICU. The doctors are giving me hormone injections to hopefully prevent early membrane rupture this time. I am 31 weeks pregnant tomorrow, and so hopefully all goes well and we won’t have another stay in the NICU.
But we are all in this together: Will, Daniel, baby girl and me! As long as we have each other what more can we ask for but your prayer and support.

3 replies on “Waiting Game – Daniel Syndrome”

Oh goodness. I sat and read the last few posts all in one shot, and in my mind I was right there with you. I can’t imagine. Big hugs and prayers– lots of prayers. May the Lord bring complete healing to his little body. You are incredibly strong and courageous parents– many have crumbled under much less pressure than you and you are holding strong, a true testament to God’s faithfulness and power in your lives. All the best to you guys.

Love Joe and Leslie

Thanks Joe & Leslie! We really appreciated your love and prayers, it certainly helps to keep us strong. As I write down our journey it becomes more and more clear God’s hand in all of this, it gives us the most hope.

We are praying for your family! Thanks for the detailed update…and for vulnerably allowing us into your world as a family.

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