December 22, 2008

The Diagnosis

Three years ago today, we were given the shocking news that Samantha has Cystic Fibrosis. Here's our story...

Thursday, December 8, 2005-After an uneventful pregnancy, Samantha was born, via scheduled c-section. Timothy's birth is somewhat of a blur (due to drugs), but I was wide awake the whole time with Sam and it was wonderful. We both were healthy, I was walking w/in hours, and we went home as soon as I could be released (I don't even think I was there the full 48 hours). Samantha's birth weight was 6 lbs 9 ounces.

The first week went by like all do. She slept a lot, and we were all just adjusting to our family of 3 becoming a family of 4. I've been asked if she displayed symptoms. Yes and no. If I were to have another child with these symptoms, I would know in a heartbeat, but did anything scream out as off? No. But this was Samantha: She glistened. Her poops were horrendous (and would be for months to come, actually). And she had a small cough.

After a week I started having nursing issues. I had milk supply problems with Timothy, but this time nursing was going well. So when I started having pain, I made an appt w/the lactation consultant, thinking I had an infection.

Monday, December 19, 2005 (11 days old)-I couldn't drive still, so all 4 of us went to the hospital for the appt. Dan and Timothy went to McDs while Sam & I saw the lactation consultant. It was a pretty basic appt. Samantha weighed in at 5 lbs 15 ounces-not possible to be back to birth weight by 2 weeks. I didn't have an infection, but she gave me some things to try, and I would return another day. As I was putting Samantha back into her infant car seat, she coughed (staccato, croupy cough).

The lactation consultant was extremely disturbed. She asked if that had been happening, often to which I replied yes. Then she said, "Well, infants aren't supposed to cough. She could be sick, and that may be the nursing problem. You need to go over and see the doctor right now."

I couldn't think straight. I remember just obeying the orders and being in this weird haze. I kept hearing "newborns don't cough" over and over in my head, and I just wanted to get to Dan. I remember crying quietly at McDs while Dan and Timothy were finishing their just don't tell a postpartum mother that kind of information in that way. I was exhausted.

It was too late to be seen that day, so we made an appt for the next day...

Tuesday, December 20, 2005 (12 days old)-After explaining why we made an appt to the pediatrician, she said, "Newborns can totally cough. Can you tell me how many times a day she has been coughing?" We didn't know we were supposed to be counting. Just every so often I said, and it's always that 1 barky cough. The doctor blew the whole thing off since there were no other "symptoms", and said to bring her back if there are more than 10 coughs a day. [This was Samantha's first, and thankfully only, missed diagnosis.]

Wednesday, December, 21, 2005 (13 days old)-we came home to find the following message on our machine:

Hello, I am RN B____. I work with Dr. W_____. We have received some results from Samantha's newborn screen, and the doctor wants to fit you in on his lunch hour tomorrow at noon. I know this is not a message you want to receive by phone, but we need to tell you the results in person. Please call me if you can't make it at that time.

Those words still make me cry 3 years later. Dan and I couldn't stand the thought of waiting until the next day, so we started looking for anything we could find on newborn screenings. We didn't even know what they tested for! None of the tests that California did seemed to be an option, so we were even more confused.

I remembered that the nurse had given the doctor's name, so I did a search on him and the first thing to pop up was the CF foundation's care center link. Besides being our hospital's pediatric pulmonologist, he is also the CF Center Director. Cystic Fibrosis was not one of the CA state newborn screening, but we discovered it was done in other states. In our heart of hearts we knew this is what Samantha had, but then we had to wait a day to get the official news.

That was the worst day. My heart breaks for those of you who went months and even years trying to get an answer, trying to get a doctor to take you seriously. The unknown was terrible, and we didn't want to alarm our friends and family, which made that night a long one. Dan and I each asked one person to pray for us. I called my dear friend, Christi. I hadn't even spent tons of time with her (at that point), but knew she was a "kindred spirit". Christi and I both have been through more than we could have ever imagined since that phone call 3 years ago, but that's another story (or 3 or 4)!

Thursday, December 22nd, 2005 (2 weeks old)-As we were checking in at the appointment desk, one of the hospital workers said to another, "Yeah, they're here for CF." Obviously, he had no idea that we didn't know yet, but our inclinations were confirmed. I think our doctor was a little surprised by our lack of surprise, but the actual words coming out of his mouth were a bit anti-climactic at that point. I actually liked that the night before I was able to be prepared and have some concept of what in the world CF was.

We considered waiting until Christmas was over with to tell our families, but I'm so glad we didn't. My mom flew out here as quickly as she could get on a plane, and honestly we spent Christmas just appreciating that we had each other. I had always known of a cousin who died as an infant, but never knew Michael died of CF. There are no known cases on Dan's side, as is normally the situation.

One reason the tests took 2 weeks to get back to us is that after the first "positive" CF test, Sam's blood was sent on to another lab for full genetic testing. There can be false positives, so this way, there was no question of the results. Dan and I both are carriers of the most common mutation, Delta f508. The Wed after Christmas both Samantha and Timothy had sweat tests done, but that was basically for documentation. Samantha was positive, Timothy was negative. In time, we will find out if Timothy is a carrier. It's a simple test since they already know what mutation to look for.

I have to be honest. Samantha has been healthier in these last 3 years than I ever imagined she would be. For me, this disease has been such a roller coaster. I get comfortable thinking everything is smooth sailing, and then I'm jerked sideways. So it's a journey, and like everything in my life, I'm learning to experience each moment instead of avoid them. Jeremiah 29:11 For I know the plans I have for you," declares the LORD, "plans to prosper you and not to harm you, plans to give you hope and a future."


Sharon said...

Wow, as a mommy I was empathizing with you throughout your recounting -- Thanks for sharing and opening your heart to bless others. I'm so glad that Sam is doing well -- and it's a reminder to all of us that good health is not to be taken for granted.

Stephanie's Mommy Brain said...

I remember praying for your nursing struggles because of what you had gone through with Timothy. The last 5+ years have been a wild ride, haven't they? Thanks for sharing the story, friend.

Cindy said...

Our stories are much the same. CF was not one of our screening tests, which is why Reilly was not diagnosed until 19 months, but the signs were there, we just didn't know where they pointed. Reilly also has DDF508. I will keep your family in my prayers, and hope that Samantha stays healthy!

Christi said...

My sweet friend, I remember just crying over the phone and praying all night that they would be wrong. I am so thankful that God has given her such good health these 3 years! I miss you and love you very much.
( I love the baby pictures, she is so beautiful)

Christy said...

This post brought tears to my eyes. As a CFer, I know that I have had it much, much easier than my parents ever have. As a mother, I know that too.
What an inspiration all of you moms to CF children are to us adults with CF. I can't tell you what your courage means to us.
I'm so thankful that Sam is doing well, and that she was born in a time that CF research is booming and there are new treatments everyday. There is no reason she can't live a very long life in these times. Bless you and your family!

Julie said...

Your post brought tears to my eyes. I feel blessed that my OB did routine CF screening, even though our state didn't require it at the time. Finding out Seamus had CF before he was born was hard but it gave us lots of time to prepare so from day one we were ready (as ready as we could be.) My heart goes out to you and other families who have to live with the uncertainity.

Lil' Chris' Mom said...

I'm so glad you posted this! It brings back memories of when Lil' Chris was diagnosed. He was also diagnosed at 2 weeks old, and has DDF508 too. It's so encouraging to know she had a great 3 years. I hope she has many more great years =)

Kelli said...

Oh the is surely one memory that will never fade. I am so glad she has had such a healthy and happy 3 years experiencing each moment!

jill said...

i remember getting that email from you and it broke my heart. i'm so glad she's been healthy and her percentile has been up! what a blessing to be in CA that screened her.

therextras said...

Thank you for sharing your story so beautifully.

"we spent Christmas just appreciating that we had each other"

A good reminder for us all.
Merry Christmas!

Michele said...

Wow - thank you so much for sharing all that - what an amazing journey God has you on...and holding you in the palm of His hand all the way.