I know it has been awhile since my last post. It has been a busy summer and it has been hard to find time to write. I wish I had more answers to report but it seems the labs have been busy, too.
It has been great to see the improvement the glasses have given Ellie this summer. For the first time she is seeing a world in focus, while I continue to focus on finding answers. I feel with every passing day, a little bit of hope eludes me that the exome sequencing will provide any answers. I pray that I am wrong.
In the meantime, I have been working on our next steps. Ellie is enrolled in a research study at OHSU for children who aren’t growing (she has grown 1.5 inches in 1 year). I have applied to the NIH Undiagnosed Disease Program and after anxiously waiting to hear if Ellie would be accepted into this unprecedented study, yesterday was the day that I did indeed find out that she was. Woohoo -- this is AMAZING news for us. I am meeting with physicians who express an interest in wanting to be a part of our diagnostic team. I am looking into having exome data sent to various research labs for further evaluation and thinking about mitochondrial exome sequencing. Even with all these actions, thoughts and ideas it still feels like I aimlessly searching in the dark.
So, I try to take it day by day and focus on what is happening right here and now. With that said, here is where Ellie is at:
Playing and Personality- Ellie really enjoys swinging in her lycra swing, exploring her toys, being brushed with her therapy brush and being tickled. She will laugh at the ceiling fan, lights or sometimes it’s a brick wall. She is happiest being held and moving around and is very content in her own little world.
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| Swinging!!! |
If she isn’t happy she will throw herself back. She is very good at communicating this way with us. I look forward to finding other ways of communicating -- through spoken words, sign language and/or technology. I will say that it can be difficult playing because of the limited feedback. She won’t make eye contact and smile in delight the way a typically developing child would. This is one of the more difficult aspects of life that renders sadness, but the small milestones do give us hope.
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| Playing with sister |
We would love to see her holding onto a toy in one hand and passing it to the other hand, sitting unassisted with a straight back and without throwing herself backwards which she continues to do even when it hurts her.
In Physical Therapy- She can currently roll from her stomach to back on one side. We are working on rolling over on both sides. Her PT Mr. Larry also works with Ellie to try to get her on all fours in a crawl-like position. She often protests this one. Soon the correct size stander should arrive and that will give her a new prospective on life.
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| Learning how to weight bear on arms and knees |
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| Practicing walking |
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| Temporary stander |
Vision Therapy- We are working on tracking objects in all directions. This has greatly improved since we got the glasses. Ms. Barb her Vision Educator has built Ellie a special vision box that has more contrast for easier viewing. All the toys are set against a black background making them easier to grab.
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| Ellie's Vision Box |
For Occupational Therapy- Ms. Sheila her OT comes to our home and works on translating therapies into the home and everyday life. One of the things we are working on is keeping her tongue in her mouth. She will either keep it out or will constantly make a clicking noise with it. Even though we know it's mostly neurological, we are trying to address the low tone aspects by increasing tongue strength. Ms. Sheila is also our advocate on feeding and helping us with the delicate balance of medical necessity vs. developmental readiness.
Sleeping - Ellie is awake most of the day. If all goes well, she usually takes a two hour nap mid-day. She continues to feed much like a newborn and eats every two hours around the clock with the exception of 7pm-11pm (her longest stretch) She will only breastfeed so I am always close by.
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| Too much playing made her sleepy! |
Feeding- Well, there sure is a lot more to the story then one can imagine. I never thought this would be a big deal. I thought I would just give her a bottle and she would drink from it. Or, I would give her a spoonful of baby food and she would eat it. Unfortunately, it hasn’t worked that easily. Not even with a taste of ice cream. It took Ellie a while to figure out breastfeeding and since then feeding has been successful. It has been a strong bond that we share even when the smiles are not. However, Ellie eats every 2 hours and only breastfeeds . Her weight has been slowly dropping and I am frantically realizing that breastfeeding is no longer working well enough. I know that as much as I want to be, I am not enough for her anymore. Although all of her labs indicate she is meeting and absorbing all the nutrients from the breastmilk, she still needs to eat from other sources. Developmentally it would be like giving a 3 month old solids so I felt that she wasn't ready until recently.
Feeding her has been a struggle but we have made progress. Everytime I would put food on her tray she would refuse to look or even acknowledge it was there. Her thumb would go in her mouth and her head would stay turned until it was gone. Now, she will look at it and try touching it once before she decides she is done with it. Small steps but it the right direction. She will also look at a bottle and knock it over on her tray as long as you don’t bring it close to her face. If you do she will try and throw her head around until its gone. With Ms. Sheila’s help we are getting creative with bottles, sippy cups, spoons and toothbrushes. Anything we can to get her to tolerate a different texture in her mouth we are trying.
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| Sitting in her highchair ignoring the food |
Hearing- I KNOW she can hear. However, multiple hearing screens, 3 physicians and a BAER test have yet to determine to what degree she can hear. We are still researching this.
We will often get lots of questions when we are out and about. As long as they are nice and people are kindly curious, I am happy to talk about our situation even if I don’t always know what to say. Some of the nicer questions we are often asked when going out:
1. Are her glasses real? Yes they are real.
2. How did we know she needed them? She wasn’t looking at us or reaching for toys.
3. How did the doctor determine what kind of glasses she needed? It took us three different doctor and finally the last one held up small lenses in front of her eye and shined a light on her to see how they responded to those particular lenses.
4. Is she OK? Yes, she is great thanks for asking.
5. Is she healthy? Well she is not contagious.
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| Say what???? |
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Aside from numerous doctor appointments, this is a peek into Ellie's world on a weekly basis. One things for sure, she is so loved, cared for and adored by so many. It is such a blessing having our little angel and we are ENORMOUSLY grateful for each and everyday.
