Reagan’s Story

March 5, 2013

This blog is just to tell our story.  I started it in 2011 only for myself…and I wrote sporadically when I felt like sharing something.  The blog was private, which kind of defeats the purpose of the blog, but what I was writing at the time I felt was no one’s business.

One of the last blog entries has us leaving off in the pursuit of adoption…and today I am happy to say that we have adopted our baby girl…

We went active with our agency at the end of September and by November 8 we had been matched.  A birth mom picked us right out the lineup…she didn’t want anyone else; she knew we were the family.

The day we had that call on November 8, was also my late grandmother’s birthday and the day we left to go on our dream vacation (only God could orchestrate that timing). Our trip started with a pit stop in California to see my family and then off for seven days in Kauai.

Photos from our 6 hour hike on the Kalalau Trail.

Photos from our 6 hour hike on the Kalalau Trail.

Napali Coast

Napali Coast

Kauai is the most beautiful place I’ve ever been in my life.  And to go there with the knowledge we were going to be parents in a few short months made the trip even more meaningful and memorable.  We dreamed about how she would look, what she would accomplish. We were so excited!!

On February 19, 2013, sweet Reagan Elle came into this world.

First photo!

First photo!

She was one of those beautiful babies right off the bat…super sweet, beautiful eyes, perfect lips and a tiny button nose.  She had, and continues to have, the daintiest of cries…it sounds like she’s singing (unless she’s really angry, then it’s a brutal cry, with lip quiver and major frown face).

Our stay in the hospital was great; we were able to have our own room to start the bonding process.  After 48-hours, we could go home…but first, she needed to stop at a Dr. apt to check out a heart murmur.  I know heart murmurs are common and people can live with them into adult-hood, but as a first time parent, I was petrified.

So on her second day of life as we left the hospital, we headed toward a pediatric specialty clinic 45 minutes away for her to get an EKG and echocardiogram.  It was awful watching her get hooked up to these machines to see if something was wrong.  I laid on the table with her caressing her face and head and she was the perfect little patient, sleeping right through an hour long check of her heart.

Reagan's heart being checked out.

Reagan’s heart being checked out.

Good news, the heart murmur was gone…they wanted to check her in another 6 months to make sure another valve had properly closed, but she received a clean bill of health.

The next day, we had an apt. with our own pediatrician for Reagan to be checked out.  Our pediatrician said she was such a “chill and beautiful baby…beautiful color, very relaxed” and she was just in awe.  I remember asking her, “How did we get so blessed with such a perfect baby?” and she said…”b/c you were meant to.”

Later that day we had some newborn photos taken and we just relished in being parents and our perfectly healthy baby girl.

First family photo.

First family photo.

Reagan Elle…our miracle!

Reagan Elle…our miracle!

That was Friday…and then, Saturday came.

Saturday afternoon on day 4 of Reagan’s life, we received several missed calls and a text from our birthmother that said she received a call that some of Reagan’s newborn screening tests were abnormal and provided a number for us to call.  Apparently, the state of Florida does newborn screening to see if there’s anything that would cause alarm.

One of Reagan’s levels were elevated…the tone in the Dr. and his nurse’s voice was concerning..  The nurse kept saying, “I’m so sorry…I can’t imagine receiving this phone call.”  Both her and the Dr. told me what level they were concerned with, and what disorder they suspected she had…it’s an extremely rare genetic disorder that 1 in 40,000 infants have.  The nurse encouraged me not to Google it…and I didn’t.  For the remainder of the weekend, I did not search the Internet. I waited to hear when our appointment was at Nemours.

Monday came, and so did our Nemours appointment.  As the Dr. sat down and solemnly explained what the disorder was, I tried to keep it together…I nodded, as I felt my entire body begin to heat up…

“Her body can’t process proteins…acid builds up in her body and it attacks the brain.  If she gets sick, she could have a stroke and brain damage…you will need to be vigilant to keep her from getting sick.  If she gets sick, you need to take her to the ER right away and tell them of her condition. She will need to be on a special diet, likely for the rest of her life to manage this condition.”

I interrupted…”I’m sorry Dr., how rare is this exactly?”

“It’s extremely rare,” she continued.

“How many patients is Nemours seeing for this disorder?” I asked…

She replied, “Three.”

Ok, wow…THREE?! So she’s number four?

The Dr. continued to say that it is a serious condition but that it can be managed…she continued to tell me that b/c of newborn screening Reagan can live a completely normal life by strictly managing her diet and being very aggressive with her care when she gets sick.

As first time parents, we’re already a little freaked out…by adding this serious disorder…magnify it by, oh…I don’t know…a billion?

For the remainder of the apt, they took blood and urine and then sent us on our way with a follow up apt. for two weeks later to confirm the diagnosis.

After that appt we had to find a medical supply store to find syringes to measure out doses of her medicine and formula…I remember riding in the back seat just crying and saying, “this is not what I had in mind for our first child…I didn’t think we’d need to go to a medical supply store.”  Both Rob and I would be lying if we didn’t admit to feelings of “this is not fair.”

We also remind ourselves that everyone has good days and bad days, parents, single folks, married people…not every day is filled with roses, and this day would certainly count as a bad day.

When we sit and think of all the bad things that can happen, it is definitely depressing. Every time I feed Reagan, I pray for her.  But these prayers are ones I didn’t think I would be praying for any child I would have…”Lord, please let her develop her muscles properly, please let her walk and talk like any normal child. Let her meet her milestones.  I pray she has great friends, can go to a great school, is smart, doesn’t have any setbacks with her condition.  HEAL her.” I never thought I would have to pray for the things that just come naturally to most parents and their children.  Their child gets a heel prick at the hospital and they never get a call from the state of Florida telling them something is wrong, like we did.

We remind ourselves that even with any healthy child…something could go wrong during their life…smooth sailing isn’t guaranteed for everyone. But we know that something IS wrong and that all the effects of this disorder COULD have have horrible implications.

That Monday and Tuesday I cried…and I cried, and I cried…I don’t think I’ve cried more in my entire life than I did that Monday, continuing into Tuesday.  Rob and I sat on our kitchen floor and just hugged each other and wept.  We’ve waited four long years…had 15 rounds of infertility treatments with no positive result, we decided to pursue adoption…our hopes were as high as the sky for our new baby girl and we felt that all our dreams for us and for her were being dashed and smashed to the ground.

As we stumbled to catch our footing…I was reminded of this story that I read a year or two ago about a mom who knew her baby had Downs Syndrome as soon as she saw her and her heart wretched in pain…she wanted to go back to before.  But her daughter looked up at her as if to say, “Love me. Love me. I’m not what you expected, but oh, please love me.” 

love me. love me.

love me. please, love me.

We had to compose ourselves.  You can NOT live in that fear.  You just can’t…you’ll drive yourself crazy living in what if’s and letting your mind spiral out of control thinking of all of the negative in life.  There are a lot of positives to think of too.

We are confident in our God…and we are confident he can perform a miracle…we’ve already seen a few miracles performed.  For instance, there’s actually a prescription formula for this extremely rare condition.  A second miracle was performed in that they just started to recently test for this condition in newborn screening within the last decade…and some states still don’t automatically test for these disorders, we are lucky she was born in Florida where this is standard operating procedure. Had this disorder gone unnoticed, around month four to year two, she could be incapacitated by the harm the acid build up would cause her little body, and the effects are irreversible.  The disorder used to be misdiagnosed as cerebral palsy before Dr.’s were able to learn more and understand this was something different.

This is what Rob and I continue to call “Our new normal”…

We told our close friends and family and a few mighty prayer warriors.  The resounding feedback was, “she was placed in your home b/c you can provide her the best care, the best chance…a fighting chance.”  We also heard “all that you’ve gone through, has prepared you for this moment…you will be fine and so will she.”

Rob and I have always “risen to the challenge.” When Rob started his insurance agency, we didn’t know how that would go, how we would pay our mortgage…we rose to the challenge, with God’s help.  When I started in real estate and left a salary job to go full commission, God blessed me with each year better than the last.  When we decided to pursue fertility treatments, it strengthened us…our marriage, our ability to fight through uncomfortable situations, our ability to communicate, to have tough conversations, to have raw emotions and to see each other for who we really are…and LOVE each other fully and unconditionally.

And now…we have this beautiful baby girl, who needs us as her parents…as her advocates.  God sees that, that’s why he placed us with her…and we will rise to the challenge.  A friend of mine said, “Your type A personality is going to get her all the care she needs.” And another said, “Your daughter is going to be a fighter, just like you.”  Reagan already is a fighter…she’s strong and determined…I can see her beautiful will and her personality starting to shine, even at this young age.

In addition, our friends know that God has blessed us so that we can give Reagan everything she needs.  Rob’s insurance agency is doing great!  Consistently growing and adding new people…he has the flexibility to be a very present Dad…and he’s a great Dad.

Rob feeding our baby girl…she’s already got him wrapped around her tiny finger!

He changes diapers like a champ and swaddles like nobody’s business.  I’m sure Reagan appreciates what each of our swaddles provides her…Rob’s provides security, comfort, warmth and the ability to sleep in one position…mine provides a chance for her to break out of that swaddle in pure freedom with lots of movement for all her limbs.

Is this scary? Yes.  Will we make it? Yes, with God’s help. God is in control of this situation…he created Reagan, perfect in his image…this diagnosis did not surprise God and He has equipped us for this very challenge.  We are praying like we never have, praising him for his blessings like we never have and putting all our eggs in the basket of the hope he provides.

Now…one last note b/c I’m sure the question is floating around in your mind as this is being read…What is this disorder called?  I’m extremely hesitant to say what the disorder is called b/c the Internet is a scary place and a lot of stories from this disorder are older stories, or cases where the disorder was not picked up on newborn screening and the outcomes are drastically different.  However, Rob’s point of view to reveal what it’s called so that God can be magnified when she thrives like any normal kid are overriding my fear motives…b/c he’s right.

It’s called Glutaric Acidemia Type 1.  The link provides a fact sheet.

The good news is that babies who were diagnosed through expanded newborn screening are doing great, including the other three being treated by Nemours.  They follow the strict diet and are monitored closely.  Reagan has a geneticist and a dietician at Nemours who will be following and monitoring her and her levels to make sure everything is OK or if a change needs to be made, it can be made.

It’s a lot to take in…but when we think of all that God has done to get her to us…we are also reminded that she’s right where she needs to be.
Below are a few miracles that God has already performed:

  1. Nemours is in our backyard…and just six months ago, the geneticist for Reagan was brought on…she actually specializes in this exact disorder and all of her training has been along this path.  If she weren’t in Orlando, we would likely have to travel to Gainesville and the Shands hospital for every visit (which looks like they could be every two weeks).
  2. There is actually a prescription formula to regulate this disorder…we are on the right side of science and medical advancement so that we can do everything possible to keep the effects of this disorder as far away as possible.
  3. Newborn screening! Through adoption, we had no say as to what was done in the hospital…some states don’t have this expanded testing, or you have to tell them you specifically want the additional tests done for a small fee of $50 – $90…luckily, the hospital Reagan was born at automatically did these tests and we received the results and began the diet within the first week of her life!
  4. Our insurance…which doesn’t even cover giving birth, covers the formula that our daughter needs.  The dietician said normally it’s not covered…but the exact verbiage needed for coverage is in our policy.  How incredible.
  5. Reagan is a miracle herself! We tried for four years to get pregnant and through adoption we have been given a precious life to care for.  If we didn’t have her…I don’t want to think what her life would look like.  We plan to care for her to the best of our ability…and it’s a miracle she was placed with us.  She is an answer to our prayers!
Perfection.

Perfection.

From speaking with our team at Nemours…they tell us that Reagan can still be a cheerleader, an athlete, a musician, a theater performer, go to school, ride her bike, have lots of friends and be like any other kid…she’s just not going to have a McDonald’s cheeseburger while doing it.  It’s important to remember…for me especially, that the outcomes are dramatically different when this is caught early…It’s hard to want to research online and have a tough time finding positive stories…and it’s b/c expanded newborn screening is a relatively new thing.  I’ve found a couple encouraging stories and I’ve provided two links below. I pray as Reagan’s story unfolds, that this blog will provide another encouraging story on the Internet for families who find themselves in this situation. I pray with all my heart that she thrives.

Pregnancy / She Knows Magazine – the positive on this story is at the end.

Unique Formula gives hope for rare genetic disorder

Now that I’ve shared…I’m asking all of you to pray for Reagan, for a healthy upbringing, free from illness.  I’m asking you to understand that I don’t want you to visit if you’re sick or if you’ve been around someone who’s sick, etc., I might not let you hold her, you might have to wear a mask…that’s just the way it is.  We don’t want to live in a bubble, but we are working toward finding a balance to keep her safe and healthy.

Her little onesie says it all…The Future is Ours!!

"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." - 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.” – Jeremiah 29:11

comments +

  1. Rachel

    March 14th, 2013 at 1:49 pm

    This family has a whole lot of love. That sweet and precious girl is lucky to have you guys as parents. I’m glad I get to watch the rest of her story unfold.

  2. Tracy

    March 14th, 2013 at 6:05 pm

    Love you three.

  3. isabel hoffmann

    December 31st, 2013 at 1:42 am

    Anne Marie and Rob, your email and your bog brought tears to my eyes. Reagan is so lucky to have you as parents! So much love! I sincerely hope that one day TellSpec will be able to help Reagan mange her diet. It is early on but w will work hard towards that goal!
    Isabel

  4. Anne-Marie

    December 31st, 2013 at 2:42 am

    Isabel! Thank you so much for your invention…we look forward to the future and what TellSpec could mean for our family!!

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