I held my hand against the tiny baby inside my belly while she moved and thought of the past few months. During the 20 week sonogram the technician told me it appeared that there might be a cleft lip & palate, water on the brain, clubbed feet, dilated kidneys and no stomach. The doctor said she wouldn’t live to or past her birth and referred me to another physician. The clubbed feet & water on the brain were ruled out and eventually her stomach appeared. As my pregnancy progressed I became weaker, Remie wasn’t growing and my amniotic fluid was low. Our perinatologist didn’t have an answer although he had consulted with numerous colleagues across the country & our geneticist at our children’s hospital. I didn’t know anything except I was having a very small girl with a cleft lip, possible cleft palate & an unknown condition which had proven to be worrisome. They decided to deliver her 3 weeks early. All I had from that point on was my faith that everything would be as it was truly meant to be.
The next day, my family and friends were with me in a birthing room while my labor progressed. My friend, Liz, implemented the pressure points to relieve my pain. Maybe they worked a little too well. Remie was born rather quietly as soon as the nurse walked out with my strong request she get the doctor. The resident, who was also on her way out listened as my friend told her, “Yep, there’s a baby.” She came back and swooped Remie up. My boys had been standing outside the room while I’d been checked at a 5 just 3 minutes prior. Code White was called. The boys said that they were worried when they saw so many people jump from the desks. They weren’t sure what was happening. The room filled up so fast. “SHE’S BEAUTIFUL” were the words I heard often. I tried to hear the slightest sound but no cry. JUST SILENCE. . . . . . . . . I could see people’s backs as they huddled over her. Through all the commotion I felt so much love. I focused on her and thought, “This is it. This was all worth it. She’s going back now & I’ll let her go in peace. It’s time to be brave & ask to hold her.” It was then that I heard a tiny cry. I asked if she was going to be okay. Before long I was looking at Remie & SHE WAS BEAUTIFUL! I looked at the nurse & respiratory therapist & they looked satisfied she’s stable enough for me to hold her for a moment(nurses are amazing at calmness). I didn’t really see much of her cleft as there was tape across her face holding the breathing tube firmly in place. Remie was tiny, just over 4 pounds and 15 inches long.
I remember the NICU doctor telling me she had Coombs disease & other things that didn’t sound remotely close to what I expected to hear. All of a sudden I was thrust into NICU 101 and was being told she had a mysterious condition. Remie’s head was covered with one of those knit hats past her eyes down to where the ventilator tube was taped to her face. There were wires from her to various machines secured by stickers & tape covering her body, bags hanging with fluid and multiple syringes with medications in them running from slow moving pumps, multiple beeps and alarms and very quiet words. The nurses stepped aside for me to see her while continuously working. I looked at her for a few minutes. I soon felt faint. Seeing I’d passed the torch to my infant daughter and that it was hers to carry, I soon came to realize that I could give her my presence & through that I could experience love with her & try to calm her through the frightening & painful experiences. Through the birth experience I became a firm believer in the idea of integrative medicine and knew that having an advocate would be key to her well-being.
The loss of so much urine combined with the unsafe sodium concentration in her body told the doctors that it was possible she had Diabetes Insipidus. If Remie didn’t have a brain abnormality(central) then diagnosing the Diabetes Insipidus would mean that the disease was nephrogenic(kidney receptors not working). Also concerning were her glucose & other levels which were all over the place. The neonatologist suspected Central Diabetes Insipidus. I want to share what I wrote in my journal during her first brain MRI. “In waiting room, MRI. Chase just called & talked to me. I’m crying. Just so scared & emotional. I try to be strong. I know it’s best I not keep crying. I love Remie so much I can’t see not having her in this life with me. God-give her the opportunity to live. I’m trying to live & enjoy each tender moment w/her. I know every hr, min, second matters. So much changes from minute to minute. Everyone asks me what’s happening & yet I know not to even try to go there. No predictions, only HOPE & COURAGE & LOVE for this little girl. To see her suffer/cry/hurt is excruciating. I’d like to hold her, touch her but that’s only aggravating her. She is so tired of being bothered by everyone. Please God, comfort my baby. Give me strength – not cuz I deserve any comfort but to strengthen me to help her & comfort my children. Help my children understand & help me to help them & not leave their needs unmet….. I am so full of emotion. Is this normal? So scared. God is near helping me I know. When all else fails, PRAY. Remie, I love you for you & I love you for everything we have experienced together & everything you have braved alone.”
The first brain MRI didn’t show any clues. Her sodium instability was probably the biggest hurdle in the very beginning and we started to believe she had nephrogenic DI as hours became days without any response. Late one night the nurse called me shortly after I left the hospital to tell me Remie’s sodium had decreased. That meant that she was responding to the medication! I was overjoyed yet cautious knowing she was still a very sick little girl with a collapsed lung from being bagged for her lengthy breathing support during the MRI.
After 2 weeks the neonatologist approached me with the idea of transporting Remie to the nearest children’s hospital to see if there was anything further that could be done. She was stable enough for the transport and there were endocrinologists there. She couldn’t be removed from her ventilator because her tongue would fall back and block her airway. I agreed that we should utilize the resources available. I was very intimidated by the reputation of the new NICU we would go to. I heard it was very intense.
Intense was a good description. It was also comforting to see posters made by parents or volunteers. I could read about what Remie’s roommates liked or what their parents preferred for their baby. I liked the idea of Remie having preferences and started to consider what Remie liked such as a hand firmly placed on her or her bottom being patted in a rhythmic pattern in times of intense stress. She seemed to like music and it wasn’t often she like being wrapped up but instead she liked being snuggled around her shoulders with a blanket. Hearing about oral aversions, I chose to apply lip balm with a Q-tip to her lips to help create a positive oral experience. This is still one of her favorite things to do.
In her 2nd MRI something was discovered. Afterwards the nurses weren’t able to tell me what they’d found as they didn’t understand much about what it meant. I looked up at Remie’s nurse, Melissa. She was being strong, yet I could see that she was holding back tears which had welled in her eyes. Melissa then said something that has stayed with me. “She won’t know anything is different unless we tell her.” Later that evening a doctor called me. She said the nurse had asked (insistently advocated) her to call me. The doctor told me that they didn’t find a pituitary gland in the MRI. I was ill-equipped for the news as the only recollection I had of the term “pituitary gland” was from health class in the 7th grade. She told me they could replace the vasopressin, thyroid, cortisol and give her growth hormones. I didn’t think about the long-term meaning of all of it at that point but was comforted by the things that we could do.
Remie’s tongue was blocking her airway as her jaw was 11 mm too small, leaving it to fall back . Her first surgery was to pull the tongue forward and button it down to her bottom lip, causing an adhesion to form as a semi-permanent solution. Eventually Remie’s jaw grew and the adhesion was snipped during her fourth surgery about 1 year later. Her tongue free, we were able to see her bottom 4 teeth.
Remie’s soft palate (uvula) was split down the middle from clefting so she would gag and retch from her feeding tube going through it down to her stomach and then throw up. It became a vicious cycle. She suffered so much and her oxygen sats would drop to dangerous levels. I believe because she struggled so much with the overall stress of the situation and has issues with pain and temperature regulation that her heart rate reflected her stress level and still does. This combined with her sodium levels fluctuating tachycardia and high temperatures are a huge challenge, although not nearly as often now since time has helped along with strict fluid management. We soon learned through several medication errors that diluting Remie’s DDAVP(an injection) was a good idea since her dose was less than a microgram. When she was 4 months old a feeding tube was placed through her stomach wall. The G-tube helped to alleviate the stress of having a tube in her throat but it didn’t decrease her symptoms. She was discharged shortly after the tube was placed only to be readmitted within a couple weeks. She had failure to thrive and it wasn’t getting any better. After a year her feeding tube was advanced past her stomach and into her jejunum(small intestine). The GJ tube helps Remie to keep her milk down so that she can grow. Remie wasn’t a candidate for an esophagous wrap because of her strong retching.
One night about one week post-surgery I had a feeling to check on Remie. She was sleeping but as I stood there she began to scream a loud cry. Remie has never been a big crier so something wasn’t right. She looked flushed and she became very lethargic. We rushed her to the hospital. It was such a scary event watching her decline rapidly. I placed my head on her chest for a brief moment while the nurses were getting help and told her to please stay. I felt then that her mission wasn’t complete and that I should step away so that the team could begin. She went into respiratory arrest. The room filled up with more people than I expected. A social worker stayed with me and they explained that there were probably 25 people in there and although that was overwhelming to see it was more about having someone available for any need they may have. Someone commented how calm I was. I didn’t feel calm. I was petrified. I remember hearing a voice, “We’ve got her back.” I wasn’t sure I’d known even at what point she’d left us. We still do not know the cause for what happened that day. I have a couple theories.
When Remie is doing well she really doesn’t need more than a trace of oxygen. She’s weaned from it a couple of times. Right now we are unable to decrease her oxygen below 1.5 liters at night because of the concern for pulmonary hypertension, although we don’t see any secondary symptoms.
Beginning early fall 2013 Remie began struggling with respiratory infections more often, the pulmonologist citing her lungs a victim of something else unknown, possibly micro-aspirations. Upon being told she had chronic lung disease I began searching for a cause. She would turn blue and become acutely ill, sometimes just dropping over after appearing to be okay. Calls to 911 and trips to the ER were becoming frequent. My attempts were futile but I kept learning more and more and soon I was convinced she had cystic fibrosis. Remie was tested again and it was determined she didn’t have it. Although disappointed to not have an answer I was very relieved she didn’t have CF.
It was while searching online that I’d found another person while researching other symptoms who had a 6 year old daughter born without a pituitary gland. After talking with him one night on the phone I realized Remie’s endocrine system was probably as stable as it could possibly be through giving medication and that whatever else was going on wasn’t related to her pituitary issues. I started to understand her unknown condition could be related to the exocrine system. That’s when I started to consider her baby formula. I researched and discovered online that her formula had been known to cause respiratory issues in many babies, even respiratory arrest! That might explain the chronic lung disease and asthma and increased need for oxygen. It was then that I decided to consider switching to a different formula. I researched and decided to try a brand that didn’t include some of the first ingredients in her formula – high fructose corn syrup and palm oil. I discovered that palm oil prevented absorption by coating the intestines with a filmy substance. We started out very slowly but eventually switched over to the new formula with the blessing of our gastroenterologist and pulmonologist after they recognized she sounded and looked better than they’d ever seen her in January 2014. She still has difficulty with respiratory viruses, her asthma or when gagging on secretions but the frequent and drastic life-threatening events that went on for many months have decreased to a more stable pattern which don’t include the daily throwing up. I am hopeful she will no longer require oxygen when her lungs have healed although she is very dependent on it now.
Remie has several physical features I’d like to make mention such as a different crease pattern on her palms, shorter fingers, a small birthmark near her collarbone, a small closed sacral dimple and hydronephrosis. She has a mild hearing loss and ear tubes. Her optic-nerve has a very distinct coloboma. She has a Chiari I malformation. I’m suspicious that her brain has suffered immensely because of the baby formula as most food allergies affect the brain primarily.
Remie will be 2 in March!! She isn’t walking yet, instead she mostly rolls around and has started to crawl forward. She enjoys standing against the furniture and hasn’t started to take steps forward yet. I feel that she wants to do so much more but she isn’t physically able to do them yet. She likes to talk and sing. She knows quite a few words and they aren’t always clear but she isn’t afraid to try out her voice! One great thing about Remie is her rythym. She likes to dance and music continues to be soothing and very fun for her and of course the rest of us with her. She also like the Itsy Bitsy Spider and Hush Little Baby sung to her along with playing pat-a-cake. Her favorite movie is Tangled and she can’t get enough of it.
I have found with Remie that she likes her routine. She tends to be concerned with others well-being with even the slightest horseplay among her brothers making her cry. She is a people watcher and looks right into a person’s eyes, leaving some mentioning how she seems to look right into their soul. She is definitely our little angel. She makes us smile often and everyday we laugh with her. I am often asked if she is always so happy. To constantly see her give so much joy to others warms my heart. To see her smile for her nurses when she is very sick in the hospital is humbling. We feel strongly that she has a purpose and I feel that we will find her diagnosis in time. Her full name is Remie Miette and it means sweet small remedy.
The first geneticist who saw her suspected and diagnosed Remie with CHARGE syndrome even after the testing came back negative. I asked the doctors to reconsider her diagnosis since I had studied it myself and their passive refusal to consider my requests was bothersome. She didn’t have the same type coloboma and she didn’t have the conditions which were most prevalent with CHARGE. I told them their findings were only secondary to the clefting which had occurred and that my fear was that if they diagnosed her too soon she would then be left with a diagnosis that would help her to get services but really no targeted treatment which may be more helpful to her. I also felt that sometimes doctors attributed unknown causes in general to the CHARGE and the panhypopituitarism. At times I reflect about how many symptoms were really valid to her that could have been better addressed with a closer look early on with my requests. Sometimes I was labeled as being difficult so I learned to talk to the ones who would listen and be patient with the ones who wouldn’t.
In January 2014 we were hospitalized with Hepa pnuemovirus. In that stay we utilized CPT to alleviate Remie’s mucous build-up. It helped her immensely. We were fortunate to get a visit with our integrative medicine doctor and she showed us more massaging techniques & pressure points for assisting in Remie’s healing.
What was most wonderful to me during our stay was the opportunity to sit with Remie’s geneticist who we have been working with for the past 2 months. He is a man we have known for 17 years through trying to find a diagnosis for my son. I explained to him my thoughts and he agreed with me that the coloboma she has is unlike the one mentioned in her genetic records. He was also unaware she was born without a pituitary. He was very receptive to my request to reconsider Remie’s CHARGE diagnosis and after consulting with an radiologist about her inner ear to rule out the hearing loss mentioned in the records incorrectly he sent me a letter telling me they were no longer looking at CHARGE as Remie’s diagnosis and they will continue to look for genetic answers for Remie.
I am so thankful for awareofangels.org because a child like Remie who has a rare syndrome is often the “teacher” to many healthcare professionals but without a diagnosis there isn’t much written in the journals about them. When a diagnosis is made someone will write a thesis about Remie and her experience will help others.
-Blog brought to us by Aware of Angels
Season Atwater is married with 4 amazing children. Her daughter Asia, at the age of 7, was diagnosed with a rare genetic disorder called 2q23.1 Microdeletion Syndrome. At that time, Season decided she wanted to be a patient advocate for the Rare & Undiagnosed and started a nonprofit organization called Aware of Angels. With a background in photography, she began providing photography services to children who had a rare, genetic or undiagnosed medical condition. The Aware of Angels Photography Project raises awareness on a global level not only for their diagnosis but who they are as a person, capturing their beauty and personality. Families are gifted life long memories and Season uses their images accompanied by a write up to raise awareness on her website and in portrait galleries; to date she has photographed over 50 Angels. These images have been used everywhere from gallery displays, television & magazines to blogs & websites. Getting to know these children, and their families has been a highlight of her photography career. You can inquire with Season on photo-shoots and portrait gallery collaborations at email@example.com or Visit her website at awareofangels.org