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.

Just an Average Girl

They were young

They were married

They were military

They were educated

They bought a home

They started a family

They had a typical healthy baby girl

She was rambunctious

She was spirited

She was sensitive

She loved her mommy

She had average grades

She enjoyed singing and playing barbies

She was a fashion designer

She was a mom of twelve cabbage patch kids

She played legos with her brother and built forts

She made a mess of the house

She listened to loud music

She played soccer

She fell in love

She had her heart broken

She went to prom

She applied to college

She was accepted into nursing school

She met her prince charming

She got married

She owned a family business

She had babies …1, 2, 3

And all of her babies were perfect

And the last one was a different kind of perfect

And it has been scary

And it has been tough

And it has been full of grief

And it has been full of fake smiles

And full of doctors, paperwork and uncertainty

And it has been full of love

And it has been full of hope

And it has been full of heart and reason and purpose

And she never thought this would happen to an average girl like herself, but it happened to me

And I never thought I would have a child with special needs

And I never thought this is what it looked like

And I never thought I wanted this to happen...

And I am so blessed that it did.

UN-Diagnosed

This quiet hesitation that has been eagerly lingering in the back of my heart...

Ellie does NOT have Paternal UPD 14

The lab was wrong.

They will walk away from this unscathed.

We will walk away from this saddened by the loss of hope.

I started writing this blog several weeks ago because something never made sense to me. I didn't understand how Ellie could be diagnosed with something so extremely rare when it seemed that the possibility of human error was far more likely. Ellie did have some of the signs, but not some of the key markers. I always thought that when I saw another child with the same diagnosis, I would have this "ah ha" moment. After spending weeks researching medical journals of children with Paternal UPD 14, I never really felt as if we resonated the same note.

I am SO grateful for our brilliant geneticist who did not accept this diagnosis and then wash her hands of us, but for pushing forward, seeking to understand Ellie better, for correcting the labs mistake and repeatedly pushing to have the results released to us. We just love her and she makes this difficult journey so much easier to travel on. We could have lived a lifetime without knowing the truth and I believe that to be the greater tragedy.

And on this journey, I have met so many wonderful families with undiagnosed children. They feel like home to me. They are truly some of  the most amazing people I have ever met. I am so blessed to know them all. Part of me is at peace to once again feel wholeheartedly connected with them.

But the answers I had with this diagnosis, I am mournful to lose. 

I am sad for the unknown...again.

I am scared to start looking for answers...again

 

The prognosis for Paternal UPD 14 had a promising lifespan after infancy and medications for methylation disorders are currently being researched. I had hope for the possibility that one day a miracle drug could flip the cognitive light switch on. I am so fearful in what we may find, as I was finally beginning to take comfort that the following statistic wouldn't apply to us,"30% of rare disease patients die before the age of 5." I am terrified at the thought of having to watch my child die when too many of the mothers I have met are already living this nightmare. 

 Every breath I take is for my family.

But even though I feel exhausted and unable to keep up with life...I still have hope. And it gets stronger with every glance into my daughters' eyes, windows to her soul that etch into my heart an irrevocable and unspoken love.

She is my baby, my love, my life.

"I surrender who I've been for who you are

for nothing makes me stronger than your fragile heart...

If I had only felt how it feels to be yours... 

I would've known what I've been living for all along"
   
                                            Lyrics written by Ryan O'Neal (Sleeping at Last)

Our New Way of Eating

It has been 10 weeks since Ellie was in the hospital for g-tube placement. Things are going as expected and unexpected. I hardly know where to begin....

 The Supplies

Rite Wright-Aid

Less than a 1 month supply!!! Crazy

Our Joey Pump

The G-tube site...

The site itself has been pretty uneventful. It doesn't seem to bother her too much. The "button," also know as a "Mini ONE Button,"looks like the picture on the left. The round apple shape on the button is the balloon that is filled with water to keep it from coming out. To feed her, you just use the attachment shown on the right as a key to lock into the tube. The whole system is removable and is changed every couple of months including the button itself.

We are beginning to see lots of granulation tissue forming around the "button" (under the gauze). For that, there are many different techniques and lotions that are used but none of them seem to work for everyone. The most common form of treatment for granulation tissue seems to be "silver nitrate sticks" that burns off the tissue. They look like long matches that you touch to the skin. I have read such conflicting reports about this being painful but effective. Ellie has had one treatment and didn't seem to notice it (THANK GOODNESS). The trick is using Vaseline to protect the skin around the granulation tissue to keep it from getting burned. The doctors have prescribed the sticks and lidocaine so that I can start treating this at home. The overabundance of granulation tissue is starting to change the position of the tube and to avoid having it surgically removed I need to treat this daily. It is always so scary being trusted to do something new. I am praying that I become proficient quickly!!!

Transitioning

Nutrition has always been so important to me in regards to my children. So working out what I was going to feed Ellie was easy...it was how exactly I was going to transition over that was difficult. 

There are a few different ways to administer a meal. First, you have a pump that slowly delivers food over a selected period of time. Second, the syringe method, also known as a bolus feed requires you to sit there and inject in the food. Lastly, is a gravity feed where you hang the syringe above the g-tube site and allow gravity to push the food inside her belly.

For us, I chose to do a bolus feed. The pump does not allow for a blended diet because of the consistency of the meal and I didn't like the lack of control that the gravity method offered. I thought this to be the best choice but I still really didn't like it. How much would she take? How often? What if she is full or having an off day? How fast do I push it in?  Even though this gave me more control, it took away all of hers. This really REALLY bothers me. All the nurses I spoke with would advise me that if she throws up we know its too much so it really just has to be trial and error. WHAT? Is that really the only way? So full that she pukes? So I took it slow...

And then that's when nutrition stepped in.

My plan was to start her on the homemade formula I had been using and then slowly adding one new food every couple of days to that mixture so I could see how she did with the new food. This is how it is always done with infants beginning solids and this way felt more natural than going full force. Unfortunately, that's when the pressure hit that by doing this I was running the risk of malnutrition. The dietician wanted to see her tolerating 5+oz per feed 5-6 times daily with a full meal, not just one new food. My baby, who when I originally started documenting her food intake a few months ago, was taking in around 450 ml per day is now being told to take in a minimum of 740ml (optimal is 1080ml) of never before eaten foods almost overnight!!!So I had to figure out a way to make this delicate balance of malnutrition/overfeeding/puking/introducing new foods while-she-just-got-out-of-surgery-and-probably-wants-nothing-to-do-with-food WORK!

Ellie's Feeding Chart 

She threw up twice and I hated that. She had no way of telling me and both times I didn't see any signs that it was becoming too much for her sweet little belly. I had to figure out a way that would allow her to communicate that it was too much, so I decided to try something new. I would breast feed her while feeding her through the g-tube. That way when she would pull off the breast I would know that she was full. This method allowed her to comfortably build up a tolerance. She is currently taking in 5oz (150ml) per feeding..

The Recipes

Organic - Vegan - Gluten Free - Large Portion of Raw Foods

I taste each recipe I prepare for Ellie. They all taste like grass. I was really nervous about the process of preparing her food. I was afraid that I would feel overwhelmed. To my surprise, it really doesn't take me long at all. I make a full blender's worth and portion it out into the Lansinoh breast milk storage bags that are freezer safe. This way I can pull out 4 different meals per day, all from different recipes, improving the variety of nutrients that she is exposed to daily.

A Handful of Recipes

*Barley is not gluten free, my mistake, we no longer use it!

Growth 

We have seen some positive changes in her linear growth. She has grown an inch in 10 weeks! The last inch she grew took her a year. So I am very happy to see that. Her weight has dropped since surgery but when you take out all that oil we were using in her formula just to get her up to a safe operating weight and add nutrient dense foods, such as kale and lentils, plus throw in a week of being sick and recuperating from surgery...I can't say I am too worried at this point. Plus, Ellie is who she is and I don't want to "fix" her. I just want to provide her with optimal nutrients to allow her body to function at its best....whatever size she chooses to be.

The Sensory

I did not think this would be the most difficult part. I thought for sure the sensation of going from hungry to full by means of someone injecting it into your tummy would be a different sensation than originally known, but I did not fully anticipate the 24/7 shock to her body and how it would affect her ability to function. When Ellie has too much sensory input she has what we call "episodes." In these episodes she just shuts down for lack of a better explanation. Her tongue hangs out, her face glazes over, tears will stream down her face with a crying expression but with no sound (she will eventually scream) while her head and eyes go in opposite directions. For these first six weeks, I would say about 75% of feeds would initiate an episode. Sometimes it would last hours before she would snap out of it and then by that time she was due for the next feeding.

These episodes have also made it exceedingly difficult to work on oral feeding. When I first started feeding her the blended meals I tried to put the same food on her tray so she would associate the look and smell of the food with feeling full. That was simply too much. For several weeks following, Ellie would not go in the high chair without screaming. So with the help of our OT Sheila, we moved the highchair into another room with nothing but toys on her tray. Thank goodness that has worked and she will now tolerate toys on her highchair during meal times. Sometimes it is still too much for her to be around food when we are all eating as a family so we move her onto the couch to play. This bothers me so much. It is one thing if she won't eat but is still a part of mealtime, but when she can't even be near us eating that makes me upset. I always worry that she doesn't feel like a part of the family.

WATER

Ellie's diet consisted of alot of fiber, probiotics, high doses of vitamin D and magnesium. Even with all that she would still cry, scream and bleed from the severe constipation. I knew she needed more water but wasn't sure how much and when we would fit it in. She was taking in food every 3 hours throughout the day and sensory-wise she was not handling it well. I felt perplexed. I realized the huge importance of the water but I already felt like I was pushing her to the limit as it was. So we decided to set up the pump to do a continuous water drip throughout the night. I liked this idea because it didn't seem to bother her sensory system. She sleeps right through it. But I was worried about the cords in her bed. So we run the cords down her leg and got a video monitor to ease my nervousness. It is kind of fun watching her in there too. 

Smiling in the dark

Helping Hands

Both Jessica and Mathew are very interested in Ellie's new way of eating. Mathew is still trying to figure out how he can help so we put him in charge of getting Ellie toys for her tray while she is eating. 

 Jessica is very anxious to share the news about her baby sisters' new "system" wherever we go. She politely explains that her sister is very special because she has this "system" and needs it to keep her from shrinking. :)

 We are so blessed to have the children that we do who are so loving and compassionate with their baby sister. I love all three of my babies so much!

Playing at Discovery Village 

                *A side note that is too important to not mention. Even though the "art of feeding" is a challenge, Ellie and I are so blessed to have such a fantastic team. Our feeding team including our amazing GI doctor, hardworking dietician, wonderful occupational therapist and renowned feeding therapist are all such amazing people who really go the extra mile.