The Smallest Preschooler

Ellie goes to preschool.

WHAT IN THE WORLD WAS THAT GOING TO LOOK LIKE?!

And, this is technically her last year before becoming a kindergartner.

How was this going to work? She needs to be carried most of her day. She doesn't talk, engage with people, or follow directions like a typical student would.

Well...here is how I believe she feels about preschool....I know she loves me (and I love her SO MUCH), but I can tell you with 100% certainty that she is not happy at parent pick up to see me. No offense is taken of course because I know how HAPPY she is going to school.

A couple years back when the birth to three program talked to us about transitioning my 3 year old into preschool...I kind of thought they were crazy. She was at about a 3-6 month old in most areas of development. How would she do anything at school that would be more beneficial than the care I was providing her at home with frequent visits to therapists.

Ellie and her WONDERFUL teacher Shelley

Well, it has been amazing. Every step of the way. Ellie has a team (or staff, really) of kind, caring, loving, intelligent professionals that go out of their way to provide Ellie with the best and most beneficial experience she could have. They turned this crazy idea of preschool into a safe, therapeutic and fun atmosphere of growth and learning. Leading this team is Shelley, whom we love and adore. She is Ellie's teacher who instructs and coordinates what Ellie's experiences will be like. When we sit down for our IEP meetings, I am always impressed to see how she can get more than 10 working professionals to move their schedules around to meet and discuss Ellie.

Ellie goes 4 days a week for about 2 1/2 hours each day. When we arrive at school, Ellie's one-on-one para-educator, Tammy greets us. She makes sure Ellie stays safe throughout her day and helps transition her between classroom activities and therapy.

Ellie and her AWESOME para-educator Tammy

 One of the great things about preschool is that the therapy is part of the classroom experience. It is incorporated into play. Not always does this work for kiddos but at this point for Ellie it is ideal.

After her favorite "circle time" she works with audiologists, speech therapists, occupational therapists, vision therapists, physical therapists, her para, teacher and all of her friends.


She may not interact in a way that I thought was "preschool appropriate", but I have learned that there are many meaningful ways other than the way I thought, that shouldn't diminish the value or importance. It is still so important because it is her experience as an individual. She has a day that I am not 100% a part of, and that is scary. But it's also beautiful because I see the joy that the autonomy brings to her soul. My sweet girl Ellie is her own person...no matter how small.

Hungry for Help

I have not wanted to talk about our feeding issues for a long time because they cause so much pain in my heart. This has been absolutely the hardest part of raising a child with complex needs. I had been on such high alert and high anxiety that I wanted nothing to do with any of it anymore. No doctors, no tests, no talking about it, no blogging, no anything that would make me feel like we are anything other than a typical family.  But I am sick of carrying this anger in my heart daily. I am exhausted from how these negative feelings can just eat away at your soul. So I am hoping that by coming out of this hibernation of hate, my soul will feel less heavy and welcome in more love and gratitude for the beautiful things Ellie is currently doing.

Ever since Ellie had her feeding tube placed, the nutrition piece has been a challenge. It was always in the plans to do a blenderized diet. She would eat what we do, food! Not some concoction made in a lab that I wouldn't touch myself, UNLESS medically necessary. And in Ellie's case, it wasn't. She needs the tube because she refuses to eat, not because she physically can't.

I personally place GREAT IMPORTANCE on the relationship that good nutrition = good health and wellness. It is one of my strongest values, that I put so much of myself into. Sure, as a family we do eat junk food from time to time, but I try and keep it in moderation. However, I am very strict about what Ellie eats, ALWAYS. I feel as if this is one thing that I can control in her world of uncertainty.

It is a great deal of work that can seem exhausting and overwhelming, but is such a labor of love.

These are the groceries that go into 1 batch of Ellie's food. Each batch lasts me about 12-14 days. We spend approximately $350 each month just on Ellie's food, (if we used formula, insurance would pay 100% of Ellie's food costs).

Several blenders fill up a huge bin of beautiful colors from real food. Most everything is organic and raw, with the exception of the grains (quinoa) and sometimes the protein (which varies from bi-vals (clams, scallops) to beans and high protein sprouted tofu).

All foods are combined so that every serving has equals parts, ideally!

Of this 12-14 day supply, each 24-48 hour supply is divided out and frozen so that food stays fresh. Each day, Ellie receives 4 feedings of food of 6-7 ounces usually around the times of 8:30am, 12:30am, 4pm and 7:30pm. She is also hooked up to a pump while she sleeps to provide her with 400ml of additional water per day. Whenever we travel, whether it be running errands or out of town, the feeding has to be carefully planned as Brad and I are the only ones who know how to feed Ellie. This means we can't be apart from Ellie for more than 3-4 hours. For example, when we went to the National Institute of Health, we filled up a cooler with the exact number of bags and plenty of dry ice to last us for the entire journey. This meant having to call different grocery stores along the way to locate more dry ice if we were running low. Then, we had to make sure the hotel could accommodate us with some freezer space and access to the food, (not always the easiest task) and a fridge in the room for storing the ready-to-go food. For meals eaten on the road, we had to stop and find places that could give us a cup of very hot water, (not many fast food places had this) that we would use to dip her food cup in to warm it, similar to heating up a bottle. When running local errands, we have a little thermos we use to keep the next feeding warm and ready to go. We also bring with us extra extensions, buttons, syringes, small syringes for when food gets stuck in her tube and we have to unclog it, and PLENTY of wipes for when we make a mess and shoot food all over the place.

It never made sense to me before why a blenderized diet would be tricky. I don't count calories and scrutinize everything my family eats. And yet, they still grow and are healthy. Why do it any differently? However, being that this was new to everyone, it was important that I wrote down recipes, charted, graphed, measured, weighed, calculated and prepared everything that went into the blender. This would be a team effort between myself, the GI doctor and dietician. I assumed we would all be in this together.

Immediately following the placement of the g-tube, I started introducing foods into Ellie's tube. A huge part of me felt a sense of happiness and relief; this kid could finally start taking in and enjoying all the health benefits of kale, lentils, oatmeal, quinoa, sweet potatoes, avocados, etc. The dietician and GI doctor put together a sample day of what Ellie should be taking in. We would continue to monitor her and make changes accordingly.

As the weeks and months went by Ellie started dropping some weight. I speculated that some weight loss would occur due to the fact that she: a.) just had major surgery, and b.) went from a very high calorie, oil-based homemade formula to kale, lentils, and quinoa. However, we needed to find the exact cause by determining what she was deficient in. The GI doctor and dietician kept telling me that there was a nutrition program they could have access to that would allow the dietician to input all of the recipes and calculate what we need to change. I thought this was a GREAT idea and just what we needed.

Months and months went by waiting for this program as Ellie continued to lose weight....The hospital had it and was utilizing it, but for some reason the GI doctor and dietician couldn't access it.

Every appointment we heard the same thing, just waiting on the program, and then we can get started.

Finally, it was appointment day once again. I remember feeling really good about this particular visit. Maybe today we would make some progress.

When the door swung open 40 minutes after the appointed time both the dietician and GI doctor walked in and the tone changed. The smile on my face quickly turned into disbelief by the words he directed at me in frustration and anger.

"This is horrible, this is terrible. She is trending poorly, what you are doing is not working."

Not only was I caught off guard by the demeanor of my "teammates", but was appalled at the level of frustration that was directed at me. As if I am not trying hard enough with: my over 40 unique recipes, pictures of the products I am using, and calculations of measurements.

I don't remember if I ever left my seat, but in my heart I jumped out of my chair, and I know for a fact that I lost all composure. My voice was raised as I attacked back, "How can you say that, I have done everything you have asked me to. Where is this program that will help us with answers? Why aren't you doing YOUR job? How can you tell me what to improve on if you haven't even taken the time to establish a baseline of her nutritional needs?!"

After telling me not to get so defensive (about MY child ) this GI doctor responds with "I am not happy with this at all, her size is disgusting to me."

Now, her weight was getting scary, but her height was symptomatic of the underlying unknown genetic condition, and not something that she or we could help. REALLY??? I asked? Would you say that to someone who has a form of dwarfism...that their size was disgusting to you?" He replied, "no because they have growth potential." Ellie is a small beautiful person and her short stature doesn't make her disgusting...she is perfect!

He left the room for a moment with just the dietician who just sat uncomfortably quiet. I lost it and started crying. I was so mad at myself for crying in front of them, as if I was being weak. I did not want them to think that they had such power over us. But they did. My daughter was getting down to a scary weight and I was in dire need of help. The people I trusted to care for my daughter.

I posted this picture in another blog post. This is the worst I can stomach to share.

Ellie would act lifeless. She would hang in her jumper unable to hold up her head while her tears fogged up her glasses. 

Two weeks later, we had a follow-up. Why I went, I don't know....probably out of desperation, or because I wanted to see that things were better. That maybe time had cured us of all of our anger. After all, doctors are people too and I liked this particular one very much. I respected him. I also felt sad for him. I think his ego was getting in the way. Ellie is so complex, and like many other professionals, he didn't have an answer and didn't have the time to deal with someone who is not a "by the book case."

The GI doctor told me at that appointment that they had finally located the software to input Ellie's data, that they would be doing it that day and that they wanted some additional labs drawn. That was the last time I heard from this doctor or the dietician. They never once called me, either one of them to tell me what I could do to help my child who was still under their care. Never. Even when our geneticist reached out for guidance as Ellie's health and weight continued to spiral down...he responded with silence. He had given up on her and didn't care.

Ellie was looking worse. Her bones were visible, her spine and ribs were noticeable. My two year old was nearing 13lbs. She was throwing up and appeared to be deteriorating. I was crying everyday.  I felt so helpless. I would have given her anything they told me, formula or any concoction to make things better. But they had given up on us and I didn't know what to do. My core of motherly instincts had been shaken from not knowing what was right for my child anymore. Where do I go?Who do I turn too? I was frozen, scared of trying other GI doctors at other hospitals (many of which were not accepting new patients or had a 3-6 month appointment wait time). I felt as if no one was going to help us. They wouldn't understand a blenderized diet and be able to provide the support we needed to go along with it.

We had an appointment with our geneticist Dr. Lawson Yuen. She said they have a metabolic dietician that she would like to bring on board to one of our appointments. She really thought this woman would be a good fit for how we were trying to go about feeding.

The next appointment we met her. I was terrified of her. I could feel my face turning a pasty white color and the adrenaline rushing through my body. What was she going to say? Was she going to help me help my daughter? Was this going to be a waste of time? Was she going to tell me that I am a horrible mother?

Karyn, the dietician, listened, asked thoughtful questions, suggested and applauded the effort I had given to Ellie's diet. "I've never seen anything like this!" she said after I gave her my "book" of recipes. She was excited to work with us...she actually wanted to! She was a blessing and the miracle we were looking for.

She went home and spent one weekend inputting a few recipes into the software, and determined less than five things I needed to change. For instance, reducing 1 cup of nuts to 1/4 cup, substituting a higher carbohydrate liquid such as rice milk instead of the hemp milk I was using, switching from 1 cup of quinoa to 2 cups. Ellie has been GAINING weight ever since. No more throwing up and acting lethargic. She finally outgrew her 6 month clothes!  I feel like between the dietician and geneticist, they saved her. They bought us time. I am so grateful and relieved but also...OH...SO...ANGRY. All of those months my child lost weight and suffered grievously at the hands of this locally revered GI doctor, who took an oath to do no harm, and his dietician's lack of care. MY CHILD. My beautiful, sweet, kind, loving, PERFECT little girl waited, while they did nothing, with the promise of doing something. Inspite of this, the despair has begun to fade and the blossoming of my sweet girl into her beautiful small body is such a blessed thing to watch.

Closing an open heart

I know it has been a long time since my last post. I think going 100% for the last 3+ years has made me so exhausted that I have just wanted to play "typical" for the last few months. We slowed down the doctors appointments, testing, therapies and research and instead have focused on sleeping in, playing in the yard, BBQ's and movie nights. It has been great!!!

It has been so beautiful watching Ellie GROW (in all areas) these past few months. Since finally reaching a perfectly portioned menu, Ellie has gone from 26" to 28" and now weighs over 16lbs, THIS IS HUGE!!! It has been such a struggle getting to this point (angry ranting blog post soon to follow) that this growth gives us so much hope. She seems so much more alert and present in the moment. She watches us move about the room and giggles at her siblings. It is so exciting to see.

However, there has been a dark cloud hanging over our summer sunshine and it has been talking with Drs about Ellie's heart. As I mentioned before, Ellie has a congenital heart defect known as a PDA (Patent Ductus Arterious). Here is a quick breakdown on what this means:

According to the NIH, "In PDA, abnormal blood flow occurs between two of the major arteries connected to the heart. These arteries are the aorta and the pulmonary artery. Before birth, these arteries are connected by a blood vessel called the ductus arteriosus. This blood vessel is a vital part of fetal blood circulation. Within minutes or up to a few days after birth, the ductus arteriosus closes. This change is normal in newborns. In some babies, however, the ductus arteriosus remains open (patent). The opening allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This can strain the heart and increase blood pressure in the lung arteries."

We have known about this now for about 2 years since our geneticist first heard the murmur and we have monitored her heart very closely. It was recommended to us that we close  the PDA for several reasons. First, Ellie's left side of her heart is becoming enlarged. We wanted to make sure it was trending this way and not just "beefy" to begin with before having this procedure and it is infact increasing in size. Second, calories....we don't want Ellie losing calories that could go to growth and development instead of pulling double duty in her heart. She is also losing a lot of water in terms of sweating. Everynight I check on her in bed and it looks as if someone dumped a bucket of water on her.

We have chosen to close this now while it is still summer time and not flu season. It scares me to think of going into the time of year where pneumonia is prevalent with a heart condition that effects the lungs.

Here is a link of how the procedure will go. We will be staying overnight and as long as everything goes well, we will be discharged the next day.

The tentative date for this to happen is August 8th. Here is why it is tentative....the hospital says that I am to give Ellie to the nurses where she will go to a room where I am not allowed to go while they administer gas to put her to sleep before they try and get an IV going.  I am not ok with this. My daughter is going to be on high alert already from just being in hospital . How can I put her into someone elses arms, scared, with people she doesn't know, not understanding what is happening as they hold her down helpless? I don't care if this is their "policy" because it is a bad one. I want to be able to hold my baby while she drifts off to sleep. Knowing that mommy loves her and will always be there through the best and worst of times. 

Two other hospitals have allowed me to go back and hold my baby right before a procedure. If this hospital can not accommodate our wishes, then we will reschedule at a different hospital. After all, the hospital is a business and it has to earn ours by way of respecting the wishes of our family. So we will wait and see how this plays out. Either way, we have decided to go through with the procedure. We feel that this is the best choice for Ellie and her well being.

We welcome lots of prayers, well wishes and happy thoughts for Ellie! It is suppose to be a "simple" procedure and I pray that it goes that way.

Farewell words for Ellie's Project...

The speech I gave at the end of the event benefiting Ellie and SWAN USA <3

I would like to take this opportunity to thank:

• Brad, Jessica and Mathew...the loves of my life for helping to put on this amazing event
• Discovery Village for always being gracious hosts and wonderful people
• Chris Olsen at Fondi’s for donating all the fabulous food  
• Stacy, Kim and Ericka for all their help organizing this event
• My Aunt Sue for flying in from NYC to make most of the beautiful baskets you see
• The beautiful and talented musicians -- Chris and Kirsten Gothold   
• All of the people and businesses who so generously donated to the silent auction 
• And, our very special community.

Some of you have been following Ellie's story since the beginning, while others are new to our family of supporters. Ellie is an extraordinary child. She is truly an angel sent here to teach us all about love, kindness and helping others. 

From day one we knew Ellie wasn’t going to be our typical child. With her beautiful uniqueness has come some heart wrenching fears that we never knew existed. A world where there isn’t always an answer. An unexplained disease causing a complex developmental brain disorder, heart defects, failure to thrive, hearing loss, retinal degeneration, cortical visual impairments, extremely small stature, developmental delays, sensory processing disorder, being unable to speak, unable to crawl or walk and 100% reliant on a feeding tube.

If this wasn’t our life and we were looking from the outside in, I would just think that maybe that family didn’t try hard enough. That maybe they just hadn’t seen the right doctor. Someone has to know, right? Well, we have traveled the country. We have seen amazing doctors at the National Institute of Health at the Undiagnosed Disease Program. We have been regulars at Seattle Childrens and Mary Bridge. We have seen the best of the best. I have researched top physicians and have gone as far as tracking them down on there home number and begging them to help my child. We are so blessed to have found the best of the best right here in Washington. Our geneticist Dr. Lawson Yuen. She even made it here tonight to support Ellie. Her support and brilliant mind has made this journey more bearable. We are one of the very lucky ones and I know that if there was an answer to be found, she would find it. 

But in the meantime we wait...days, months, years. Not knowing what to tell strangers when they ask. Not knowing what to tell our other children. Not knowing what to tell ourselves. Wondering what is the prognosis and is there anything we could be doing to make things better while time appears to be slipping away. But as dark and scary as it may seem, there is tremendous beauty that only a child of special needs can bring. Ellie is flawless. Her heart carries nothing but love. She may not be able to speak but she certainly communicates, and that is why we are here tonight. To be her voice. To help families make the journey into the unknown a little brighter whether that be through helping them find answers in costly genetic testing, providing medical equipment when insurance companies say no thank, or even just coordinating a support group where the hugs are free and the coffee is strong. We are not alone as we may feel and seeing this tremendous turnout proves this. 

Thank you all so much for choosing to be a part of Ellie’s journey and supporting us. 

Total amount raised so far...$8353 and growing :) 

Uncertainty.

It is the loneliest place to be when you know something terrible is happening to your child before any doctors can confirm it. They might never confirm it, but as a mom, you just know it. 

 

There is such a symbiotic bond between us and I can feel her discomfort in the pit of my stomach. I can feel how her laughter fills my heart and how her tears break me into a million little pieces. I can see it when I look into her eyes how absolutely precious each and every moment is. I can see how her body is changing. I can see her soft skin wrinkly and loose hang off her tiny little bones. I can see how her little ear has lost so much cartilidge that it can barely hold up her glasses. With each breath she takes I can see each and every rib. I can feel her spine everytime I rub her back. Her pelvis is not much larger than a doll's waist and a newborn diaper fits. 

 

 I am scared. 

 

I am not giving up and I have not lost all hope. Being a realist doesn’t make me a pessimist.  I just  don’t want to be blindsided….I don’t want to say everything will work out and everything will be fine because it simply is not and I hate feeling like a crazy person all the time trying to convince, what feels like the world, that something is terribly wrong when so many just don’t want to “go there”.

 

Sometimes, it is sooo good.

 

Other times, it is so scary.

I do have faith all of this is for a greater purpose and I can cry tears of grief along with smiles of happiness knowing I am so blessed for every moment.

 

I need answers to why with a diet with more than twice as many calories as she needs, we still cannot stop the weight loss. I am scared because the more I try and give her to gain weight, she throws it up or sweats it out. 

 

I am not done trying.

 

I haven’t given up and I am fortunate to have such a wonderful dietician helping me brainstorm ideas. This gives me hope when we come up with ideas that haven’t been tried. Hope is everything, even if I am just riding on its fumes. 

 

Although nothing is certain, there is talk in the medical community that Ellie has some sort of DNA repair mechanism disorder that causes her body to age, in the same spectrum as Progeria/Cockayne syndrome. I check my email 100 times a day to see if there is any word from doctors or researchers who are currently looking at Ellie and her file, tests and data.  It is so painstakingly slow. I try and be patient. I know that we are not the only family who needs help…so often my mind wants to get angry and upset as I wonder if they would have such a laxed timeline if this was their child.

 

In the meantime, we have learned that Ellie will need heart surgery to close the PDA (hole in her heart that usually closes at birth). They are theorizing that her body is having to use too much energy to manage the extra blood flow that it could be contributing to her weight loss. I asked to see if the size of her heart was increasing and it is trending that way. I am planning on waiting until summer when we can hopefully get Ellie to put on some weight and avoid hospitals during the cold/flu season. 

 

We will also journey down to Portland next month to be seen by the Casey Eye Institute to further evaluate Ellie’s retinal degeneration. Doctors are thinking it is progressing so hopefully we will learn more after our visit. She has often been having bouts of intermediate nystagmus (her eyes look off to the side and shake) and I would really like some explanation on that. 

 

Sometimes  I look back at my pictures and posts on Facebook  from 2011 and earlier...I do that often, trying to remember who I was before this journey began. I was a good mom to my other two children. Now I feel like I am hiding behind that; hoping they don’t see the person that is falling apart and just remember the good mom that I once was.

Our Visit to the National Institutes of Health - Undiagnosed Disease Program

Our visit to the National Institutes of Health - Undiagnosed Disease Program and what we learned.

The highly anticipated visit to the NIH’s Undiagnosed Disease Program has come and gone. All the hope and excitement that had been on our minds these past several months is now just a memory.  It was such a great experience and we were so blessed to be able to have so many brilliant minds working together to help our daughter.

We had our own thoughts of how this process was going to work, based on what others had told us and what we had expected. We were anticipating a seamless visit filled with appointments and crowds of doctors filling our room to learn about and possibly help Ellie. We didn’t expect a moment of down time and had prepared ourselves for that.

When we first checked in we met with our team of professionals who would be guiding us through this process. Our team “captain” was Gretchen Golas. Gretchen coordinated all of our care, kept us on track, got us into appointments she thought were necessary despite being told “no, there is no room”. She fought for us, explained everything in a way we could understand and was probably one of the most intelligent people I have ever met. She recognized all my concerns, and more, and pointed them out to each physician to weigh in on. She thought outside of the box and treated Ellie as a very special little girl who was “writing her own story”.

Jean Johnson, Ellie & Myself, Cynthia Tiff, Gretchen Golas

Immediately, Gretchen introduced us to our “first draft schedule” and arranged for people to walk us to each and every appointment.  Things were definitely busy and sometimes lunch was eaten while walking to the next appointment.  It wasn’t as seamless as we had anticipated though. It was still very much like a hospital…waiting around in the different clinics. However, what made it so nice was that everything was in one building. Back home, I have to drive all over the Seattle metropolitan areas on different days and very rarely can I get appointments all scheduled on the same day. And then, I have to re-explain Ellie’s story to everyone. Not only did all of the physicians read up on Ellie ahead of time but they were all in one place.

Inside the clinical center

I was also pleasantly surprised to see how accommodating they were to Ellie and her needs. If she was tired and wanted to rest or needed to eat, Gretchen would cancel and reschedule our next appointment so that she could have some time to rest. Ellie was able to call the shots :)

From the start of our visit there was concern with Ellie’s hearing. After seeing MULTIPLE doctors and audiologists throughout Seattle and based on Ellie reaction to sound, I fought the need for further testing. No part of me has ever felt that Ellie’s hearing was any less than hypersensitive.  She startles, she doesn’t like loud places and flinches when her brother screams.  There was NO DOUBT IN MY MIND about her hearing!!  

It’s hard because the NIH gives you the option to decline anything. It is all 100% voluntary but at the same time you think, well, what we are here for then if we aren’t going to take them up on some of their suggestions.

In planning for our big visit I wanted to make sure that ALL invasive procedures were done ahead of time. It was very important to me that we wouldn’t spend the whole week poking at her but rather having multiple discussions with top physicians while observing her. That is why when she had her g-tube surgery last November I asked for them to take a tissue sample to store until we needed it. And for her last MRI, I had the NIH add on any orders so that they wouldn’t need to repeat it when we got there.  I also had them take and store DNA for future use.

However, the team wanted Ellie to have a sedated ABR which tests to see if the brain is capable of hearing sound.  So once sound hits the ear, the test registers if the brain responds.  They also wanted to do a spinal tap to run metabolic tests on the cerebral spinal fluid and a skin biopsy (which would show us different information than the previously stored tissue sample). I was very hesitant…but after speaking with the doctors and knowing that if we agree to the sedated ABR she could have everything done that needed to be done while asleep, including all of the labs. SO after deciding we would do this, anything that I thought would make her uncomfortable we were going to save until the only available time for everyone to meet, which was Friday morning, the last day of our visit. Not the ideal time but it worked. Ellie was able to have the sedated ABR, ear cleaning, vision exam, dental exam, spinal tap, skin biopsy and blood work for labs/genetic testing all while asleep. She did not have to go through the discomfort of a single needle, and within an hour of the procedure she was acting and eating as normal.

The first doctor to come out of the operating room to speak with us was the ophthalmologist. He explained that in previous notes from our home team there were questions about the health of her optic nerve. He concluded that although her eyes are small, the optic nerve was healthy. What did concern him was that she has retinal degeneration. He wasn’t sure if this was static or progressive but recommended we follow up with our home team for a procedure that would tell us exactly what was going on.  

Next was the hearing doctor. He informed us that Ellie does in fact have a mild to moderate hearing loss in both ears.  I had a lot to say about that.  I told him he was wrong and that it was not possible and that I am in complete denial about this.  Every reason I used to convince him why she hears just fine, he turned around on me. For instance, when we go to the park and the volume level is low, Ellie does fine. (She will even go in a swing now for me!!! ) But as it slowly starts to get busier and the overall volume begins to rise, she starts getting upset and shuts down…so of course she can hear. His response back was this: Ellie has been living in a quiet world and is not use to a lot of the sounds that are background noise to us. It’s like when we hear a loud noise that we aren’t used to and we get concerned.  So when Ellie starts to hear the world around us, she doesn’t know what is going on and is frightened by it.  He strongly recommended we start hearing aids and very gradually begin to increase the volume allowing her time to process this new world of sound. I appreciated his perspective and it helped me think about her hearing in a way I didn’t want to or was too scared to. 

The physiatrist we saw said that Ellie has extreme hypermobility and that her ligaments are like rubber bands (meaning her joints are very loose and kinda like she is double jointed  throughout her body) This is why she struggles to sit up straight or be mobile.  He also weighed in on the overall concern with her collagen and suggested continued efforts to better understand what is going on ( A couple of months ago I noticed her glasses were having difficulty staying on her face because her ear was losing collagen. Apparently it is now being seen in other spots of her little body).

I am so grateful with how thorough the NIH team has been.  The collagen and vision had never been explored as in depth by our home team. The whole week consisted of scrutinizing the following  systems:

Gastroenterology

Nutrition

Neurology

Pulmonary

Cardiovascular

Hematology

Endocrinology

Dental

Dermatology

Ophthalmology

Orthopedic

Developmental Psychology

Rehabilitation

Renal

Bedside muscle ultrasound

Other than the sedated procedures, Ellie had a muscle ultrasound, full skeletal survey with bone age, abdominal ultrasound and brain EEG.

Ellie is still a mystery to all. We didn’t really learn a whole lot more than what we already knew…yet. Many tests are pending and it will be about two months before we have most of the results in. One of the nice things is that they are not done looking at Ellie. In fact, they are just beginning. They used this week to get to know, understand, and order tests for questions they still have. They spend the whole time getting pieces of the puzzle so that they can try to start putting it together. I am hopeful that answers will still come. I didn’t go into this expecting to be one of the 10% that actually leave with answers…I just had hoped that we would have been.  Now the real work begins. Thinking about our home team of doctors and re-prioritizing…adding in some new ones and relieving some of the current ones. It almost feels like starting over from the beginning. I just hope that maybe by changing directions we will find some new answers. 

Scattered Pieces

“The day we met…frozen, I held my breath. Right from the start I knew that I had found a home for my heart.”  --Christina Perri

How do you hear “less than 50% chance she will be with you at 12” or “profoundly disabled” or “failure to thrive” and then go home to life?

Dinner to make and conversations about school and extracurricular activities.

How do you keep it together while remaining present in the moment to take care of your typical children’s needs?

It’s an implosion of the mind, a tornado of emotions:  uncertainty, fear, love.

Having to be strong under the weight of expectations when you just don’t want to be.

Struggling to find the patience to deal with frustrated physicians who are scrambling to play God with your child.

Knowing in your heart what is right, but not being able to prove it.

She is PERFECT.

Since when did she break? 

Her body and soul are to be loved and respected for their uniqueness and beauty.

The craziness sets in…

Being forgetful and yet having to be responsible.

Loving so much that it hurts.

Alone in your thoughts and screaming to get out of your head; the feeling of falling into a deep blue uncertainty. 

Failure is the fear that drives.

It’s painful to hear, “we may be able to help her if we knew what was happening”. It’s like watching someone you love drown, with your hands tied behind your back. 

Sometimes I just don’t think I will manage another day, and inspite of the knowledge I will shatter again, somewhere strength comes, and I pick up the scattered pieces and fix what has broken.