Father's Day

We have had such a wonderful week! Lynda, David's mom, AKA Gema, came all the way from North Carolina to stay with us for a week and spend time with Charlotte. Having her in Baltimore with us has been such a blessing. She helped cook, clean, and stay with Charlotte while Laura ran errands and David worked. Having family support has been our biggest gift. We have a wonderful family. Today is David's first Father's Day! Charlotte and Laura spent a lot of time getting gifts together for David to make it extra special. It was very appropriate that on Father's Day, David received two gifts that were Tom's, Laura's dad's. Laura's dad was a model for fatherhood. David is already proving to be just as good a father as Tom. Donna, Laura's mom, gave David Tom's nice Nikon camera, so we can take beautiful pictures and videos of Charlotte. (When we learn how to use it!) Also, Laura and Donna gave David a book that Laura had given to her dad. The book is a compilation of stories from daughters to honor their famous fathers. The list of famous father's includes Johnny Cash, Nolan Ryan, George Bush, etc. Laura had written a beautiful dedication to her dad. Donna wrote a beautiful dedication to David underneath of it. Charlotte made David some beautiful gifts also. She made him a baseball with her handprint and on the back signed it "Happy First Father's Day. Love, Charlotte." He is going to proudly display this gift on his desk at work. She also made him a First Father's Day picture that we framed with her hand and foot prints. It was a very special day. Then, we found out Charlotte contracted meningitis. We don't know how. She spiked a 103 fever on Saturday, and they immediately started giving her the dose of antibiotics that treats meningitis. Then, they did a lumbar puncture that confirmed the diagnosis. So, Charlotte will get 21 days of antibiotics to cure the meningitis. Then, she will hopefully get her G tube. We are so thankful that they caught the meningitis early, because Charlotte is back to her old self now. She is just as feisty as ever!

4 months

     Charlotte is a whopping four months now! She is 7 pounds 4 ounces and growing. Charlotte is becoming much more expressive and interactive now. She loves her mobile above her bed, sitting in her bouncy chair, staring at the lights and sounds, and sitting in a warm bathtub. Most of all, she loves to be held. David and I love holding her. Now that she is the size of a normal full term baby, it is easier to cuddle her. The nurses say she is definitely their favorite. Maybe it's because they have gotten to know her so well in the 4 months we have been there!
     Charlotte will have a sleep study on Wednesday to see how much oxygen she will need when she comes home. Then, the doctors have agreed it is time to place the g-tube in her belly for feeding. This is great news, because that is the last  step before Charlotte can come home! She will work on swallowing as an outpatient with a speech therapist that will come to our house. When she is able to swallow correctly and drink a whole bottle, she will have the tube removed. She had her bone marrow aspiration surgery, and it showed that her red and white blood cells are normal. However, she has 1 platelet. A normal count is 150,000-400,000. Tentatively, the hematologist has diagnosed Charlotte with CAMT. However, there has been no gene found that causes this diagnosis. So, we are getting a second opinion from doctors at Texas Children's Hospital who are experts in this diagnosis. We are going to meet with the transplant team at the University of Maryland tomorrow and get lots of information regarding the next steps with Charlotte's transplant.
     Charlotte has her own Facebook event now to encourage people to register to be a bone marrow donor. The event was a huge success. We reached out to almost 7,000 people and counting. Countless amounts of people have registered to donate and we could not be more excited. If you would like to register to be a bone marrow donor, consider signing up online. They will mail a kit to your house and a simple swab of your cheek could save a life. We believe that this is the purpose of Charlotte's journey.
     Most people don't know this story, but one day right after Charlotte was born, a man and I were riding the elevator at Mercy Hospital. He saw my purple NICU badge and asked, "Did you just have a baby?" I replied, "Yes. I just had a baby girl." He said with a big grin on his face, "Maybe she'll be the first female president!" I smiled politely. After he stepped off the elevator, I began sobbing. All that I could think about was how hard Charlotte was battling to survive. How could anything good come from our situation? Now I know I was dead wrong. Charlotte is helping other people find their life saving bone marrow match. She is helping save other people's lives at 4 months old. What a change she is making already.

https://bethematch.org/Support-the-Cause/Donate-bone-marrow/Join-the-marrow-registry/
   

                                       

The diagnosis

This has been the most informative week so far! We finally have an answer for what has been causing Charlotte to be so sick. It is both a relief and terrifying at the same time. This week she finally received a diagnosis of Congenital Amegakaryocytic Thrombocytopenia from our hematologist. This is a long name that basically means Charlotte's bone marrow does not make platelets like it should. We knew she had a low number of platelets in her body, but there are many reasons why this can happen. After endless amounts of testing, we finally have the answer. What caused Charlotte to have this bone marrow failure syndrome is that we passed it on to her. This is where you need to pull out a genetics text book. We are both carriers of a recessive gene for a very rare bone marrow failure. At conception, we both passed on our recessive gene to Charlotte. Therefore, she now has a bone marrow failure syndrome. The probability of both of us having this rare gene, and then passing it on to Charlotte, is so slim it is almost unbelievable. Our hematologist has never had a patient with this diagnosis. This diagnosis also explains why she had growth restriction in Laura's belly, why she had a heart defect, why she had an endocrine problem, and why she had low platelets. This diagnosis causes those things to happen. To be honest, as a mother, it is a huge relief to Laura to know that it is not something she did while pregnant that caused Charlotte to be so sick. (Even though Laura had followed all of her doctors instructions to a T.) Ultimately, Charlotte has a syndrome caused by genetics. The genome study in which Charlotte is involved is searching for the gene that caused this bone marrow failure syndrome, so that we can have that knowledge when we have children in the future. So, now Charlotte will be having a bone marrow transplant. This is the only way that Charlotte's bone marrow will ever be able to function properly. Because she is Caucasian and she is small, we will have a large selection of donors to search for a 10/10 match for Charlotte. (There are 10 antigens that a person needs to be a perfect match for a bone marrow transplant.) Charlotte will have a bone marrow aspiration next week which is a procedure to draw out part of her bone marrow and look at it under a microscope. This will tell us definitively that she is not making any platelets. Then, we will start looking for a transplant donor. Charlotte will most likely have her transplant when she is around 7-8 months old. It will be a difficult road for a little while, but we have several friends and doctors from around the country who are well versed in bone marrow transplants. We are armed with lots of information and lots of support! We will look at several hospitals including Hopkins, CHOP, and DC Children's hospital and pick the best one for Charlotte. In regards to Charlotte's stay at the University of Maryland, we are working on the final piece of the puzzle to get her home: swallowing. One day at a time, as they say. As for our family, we are stronger than ever, and this is only going to make us closer. As for Charlotte, "Though she be but little, she is fierce!"

The Theory of Everything

Charlotte is a whopping 7 pounds now! Laura's sister and brother in law, have given Charlotte a bouncy seat that vibrates and has a bar overtop that plays music and lights up. Charlotte is awake more during the day now, so she loves to sit in her bouncy chair and stare at the lights. She is almost done with using a breathing tube. She is down to .1 liters, which is almost no support. She has been doing well with the feeding tube in her intestine. Her food is given over 24 hours, so she gets very small amounts at a time. This helps to decrease her reflux. Because she has done so well, the doctors have moved the feeding tube back into her stomach to prepare for tolerating food in her stomach. She is doing really well. Her breathing is stable, and she is not refluxing very much. However, Charlotte had a second swallow study and didn't pass it again. So, we have to wait 3 more weeks to see if she improves. If she doesn't pass the third time, she will receive a tube in her belly that will allow us to bring her home but give her food to her through the tube until she can swallow all her food by mouth safely. Some children who have required extended assistance for breathing take longer to learn how to swallow because their breathing/swallowing structures are very weak. We have several friends who we have met in the NICU who have had this procedure done on their child, and it has gone very well. We will do whatever we need to do to get Charlotte home. We are still working on finding a reason for Charlotte's low platelets. She still needs transfusions of platelets 1-2 times a week. Charlotte is the subject for a pilot research study at the University of Maryland which aims to look at a person's entire genome, which is their entire genetic code, to find a reason for their disease. After looking at Charlotte's entire genetic code they still can not figure out why she has low platelet levels. Laura is currently reaching out to several experts in the field of hematology around the country to obtain second opinions that might help the doctors manage Charlotte's low platelets. She is gathering lots of great information and is hoping to pass it along to the doctors at Maryland this week.

Having a critically ill child can pull a parent to a new low they never knew existed. With the unceasing amount of tests, scary possibilities, and unknowns that we have had to endure since December when Laura's pregnancy troubles began, our strength and faith have truly been put to the test. Recently, we watched an inspiring movie about Steven Hawking called "The Theory of Everything." For those of you who don't know, Stephen Hawking is regarded as one of the most brilliant theoretical physicists since Albert Einstein. At the age of 21, he was diagnosed with a motor neuron disease and given two years to live. He is now 72. Towards the end of the film, Steven Hawking makes a bold statement that truly puts life in perspective. He says, "There should be no boundaries to human endeavor. We are all different. However bad life may seem, there is always something you can do, and succeed at. While there is life, there is hope."

Best Part of My Day

The most significant things in life are rarely easy, that is what makes them significant. With Charlotte being born three months early, we were told to expect to be in the NICU until roughly her original due date. Well, the original due date (May 4th) has come and gone, and here we sit, still in the NICU, waiting for answers.

Is it frustrating?
Yes.
Is it difficult?
Oh course.
Do we have bad days?
Ask any parent in the NICU....You can find new lows you didn't know existed.

But......the best part of my day is when I push the button to open those automatic, double doors and walk into the NICU. I am supposed to scrub up before I visit her, but I at least have to walk in and let her know that I am there. I cannot seem to wash my hands quick enough so I can get back in there and be with her. Yesterday the nurse woke Charlotte up to do her cares and she started crying when the nurse began to change her diaper. I said, "Charlotte, its going to be okay." She immediately stopped crying and started looking around for me. The nurse and I both started laughing at the obvious site that Charlotte recognized my voice and did not know I was in the room until that moment. A moment I will never forget.

Part of life in the NICU is not knowing what lies ahead. It is easy to get distracted or overwhelmed with all the test results, new symptoms, alarms buzzing, and doctors running in and out. I sometimes find myself asking, "Why?". No matter how long or hard I think about that question, I never come up with an answer. God has a plan for Charlotte. God has a plan for Laura and me as well. There is no doubt that His plan will be difficult and challenging, but that is what makes it significant.

I love you, Charlotte.

See ya later, vapotherm!

We had a wonderful Mother's Day this week! We spent the morning with Charlotte and took her 3 month pictures in her pretty new outfits. It is amazing how far we have come from the day Charlotte was born. She is 6 pounds now! The speech therapist performed a swallow study and found out that Charlotte has been aspirating her milk. This means that instead of the milk going down her esophagus, it is going down her airway and into her lungs. They believe that this is happening for several reasons: 1) because Charlotte was intubated with a ventilator, her vocal cords are irritated 2) because she has severe reflux, her esophagus and vocal cords are irritated 3) she needs more time to mature due to being born very early. They have moved her feeding tube lower into her intestines in order to bypass her stomach. This will prevent her from having reflux and allow her esophagus and vocal cords to heal. Since moving her tube, her breathing has also improved, because now Charlotte isn't refluxing food into her lungs. This is allowing her lungs to heal and work more efficiently. The doctors decided to put her on a nasal cannula which is a lower flow of oxygen. Hopefully with less breathing support, Charlotte's lungs will get stronger. This is the last step before she can breathe on her own. They are going to repeat her swallow study in 2 weeks to see if she can swallow milk correctly. We also completed our first March of Dimes Walk this week! We walked on team Caleb Mason. Our friend Katelyn had a son prematurely, and he has been receiving care at the University of Maryland. It was so nice to be surrounded by friends and families who have also gone through the experience of having a child prematurely. If you ever get the chance to participate in this wonderful event, I encourage you to donate towards a great cause! The March of Dimes Organization helps moms have full-term pregnancies and healthy babies. If something goes wrong, they offer information and comfort to families. They research the problems that threaten babies and work on preventing them. The March of Dimes also funds lifesaving research and speaks out for legislation that improves care for moms and babies. 

Happy due date, Charlotte!

We have officially reached Charlotte's due date which was around May 4. She is "full term" now, and so she will start going by her adjusted age until she is 2 years old. So, even though she is 3 months old, she is really acting like a newborn, because she would still have been growing in Laura's belly until now. Charlotte had her developmental assessment now that she has reached her due date, and she passed it with flying colors! This assessment determined if Charlotte would need therapy at home. She is doing everything she should be doing for a newborn baby. The doctor "did not recommend any home therapy at this time." It must have been the UNC onesie! We give Charlotte sponge baths regularly now, and she loves to sit in the basin of water to rinse off. Charlotte is now wearing "newborn" sized clothing and diapers instead of "preemie" size. So, we brought in all of the wonderful gifts from our amazing friends and family! Everyone keeps commenting about all of the outfits and pictures we have hanging saying, "she is one loved little girl." It's true. The constant reminders of how blessed we are with a loving support system are all around Charlotte's room. Charlotte is part of a pilot research study which is looking at her entire genetic code to determine why she has the medical conditions with her heart, adrenal glands, and platelets. The study was hoping to find one cause for all of it, and help the doctors manage her medical conditions better. However, the test did not find any genetic causes for Charlotte's conditions. So, next week the hematologist is going to do a bone marrow aspiration to draw out part of Charlotte's bone marrow and look at it under a microscope to see if her bone marrow is making any platelets. Hopefully, this will give us some answers. Charlotte continues to work with OT to drink from a bottle with thickened milk. The thickened milk is to ensure that none of the milk goes into Charlotte's lungs. They are hoping to do a swallow study soon to determine how she swallows, and give her the right consistency of milk. However, Charlotte still needs "vapotherm" which is a machine that gives a high flow of oxygen and that makes it difficult to get her down to the swallow study room. The Occupational Therapist is working on a plan to get the study done, because when they see how Charlotte swallows, they can give her more milk. The physical therapists showed us massage techniques to help Charlotte relax and stretch. She loves to have her arms and legs massaged! Everyday is a new adventure, but we are so thankful for the exceptional medical care that Charlotte is getting! The University of Maryland staff have been such a blessing.