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.