Johns Hopkins Trip

Trip Overview

February 19, 2007 Happy 3^rd Birthday to our little girl

So, we just received an email from Ryli's Genetics doctor, Dr. Cohn, in Baltimore. Nothing abnormal was found with the Muscle biopsy but muscle atrophy (small muscle fibers). He wants to coordinate more blood work with our Neurologist here to test Ryli for Retts Syndrome yet again for the 3rd time. Johns Hopkins has a more thorough, more detailed way of testing for Retts Syndrome J

February 9^th, 2007 
My little sister had to fly back to Maine. Actually she is flying to Maine to pack up and move back to Denver. She doesn’t want to loose fragile time with her Nieces and Nephew. My older sister Tracie is flying to Baltimore to spend the weekend and bring Ryan back to Denver with her.

Ryli is doing ok. Her oxygen level needed to be increased for some reason.

The Pulmonary doctors wanted to sedate her again to do a Bronchial scope and break up the adolectisus but the Neurologist and Genetics doctor does not agree. They feel that this can be done at a later time when she’s well J

February 8^th, 2007 
Ryli is transferred to the IMC. She is still on “Precautions” meaning until the RSV and Influenza tests come back negative, we need to gown up. She is doing pretty well but not well enough for our scheduled 9^th departure back to Denver.

February 7^th, 2007 
Ryli is doing well. She will be transferred to the Pediatric IMC (Intermediate Medical Care) floor tomorrow. Her oxygen has been turned down to 28%. She is all over the board with her oxygen. She’s been at 28% before and they had to raise it to 50% and then hours later, lower it again. Xrays show Pneumothorax greatly decreased but Adolectisus in both lungs (build up of something).

February 6^th, 2007 
Ryli is still in PICU but doing better. Her Neurologist and Genetic doctor work closely together and ordered a muscle biopsy along with a skin biopsy for research on Ryli’s disorder. Her muscle biopsy is an incision on her thigh that is about an inch and a half long. The skin biopsy is a skin punch taken from around the ankle and upper thigh. We are waiting results of these tests.

February 5, 2007 
Ryli is still on the ventilator. She is still on 100% oxygen. She actually looks a little worse than yesterday. Maybe it’s the poking and proding L. Today we got excepted to stay at the Ronald McDonald House. This is only $15 per night for 2 beds, free use of washing machine/drying and detergents, free breakfast, lunch and dinner. This is an amazing place. Staying here, even just walking through this place and looking at all the pictures of sick children smiling—makes us want to do more for families in need. Doug and I plan on donating and serving dinner once in awhile at the Ronald McDonald House next to Children’s Hospital in Denver. I cannot say enough about this place.

We are staying here for the duration of our stay because it is only about 10 minutes away from Johns Hopkins and there is a shuttle that runs back and forth from the Ronald McDonald House to Hopkins. It’s a much closer stay for us.

Did I mention that my little sister Amanda met us in Baltimore January 31^st. She is a wonderful help for us and sits for 9+ hours in the waiting room at Hopkins with Ryan.

February 4, 2007 
We called 911. Ryli is having seizures. Worst feeling ever is calling 911 from your cell phone and not having an address or directions on how to get to our little girl. Ryli was transfered by Ambulance to GBMC.  Xrays showed Pneumothorax (collapse of the lung) also she had a fever of 102. She was stabilized at GBMC and transferred to Johns Hopkins. This was a very different experience for us because normally, we can be at Ryli's side during emergencies like this but at GBMC and Hopkins--we were not allowed in the room while they worked on her.  At GBMC, they had to get "aggressive" in suctioning her and for almost 2 weeks, she was still bleeding quite a bit through the trach.  Since we could not be there to see them work on her, we are not sure exactly how this happened.  Also, Ryli's collapsed lung could have been caused by the bagging that was performed on her.  Once they stopped the bagging, Ryli could not breath on her own. While Ryli was in PICU at Hopkins, we could not spend the night at her side.  Infact, there was not room for chairs at her crib side.  Beds are literally side by side. We had to leave every night which was not too bad because we did have Ryan with us since this trip was supposed to be Out Patient.  Before we left the night of the 4th, we had to sign consent forms allowing a Chest Tube to be inserted if Ryli could not recover her lung on her own.  She was on a ventilator w/CPap.  This was oxygen with pressure behind it hoping that it would push that lung back out.  This did not happen.  So, they took her off of Cpap and on 100% oxygen.  We got a call at Midnight saying that it was working.  Whew.  We've always said 2 things: 1) Ryli is the healthiest sick girl you will ever meet.  Meaning that her heart, kidney, liver etc. is all healthy. 2) Ryli is the strongest O'Hara

February 3, 2007 
Satruday, Ryli isn't feeling well. She is a gurgly mess.  More than ever before.  When we got back, we doused her with Nebulizer treatments, vest treatments and lots of TLC.

February 2, 2007 (Neurologist)
We met with Dr. Thomas Crawford today. Again, after reviewing Ryli's workup - he was very impressed with how thorough it is. He knows our Neurologist in Denver, Dr. Julie Parsons, and has a lot of confidence in her work. He told us that she is "top notch" and asked why we were seeing him also. I told him that I hoped he was a notch higher and he confirmed that he was not, but would be happy to do whatever he could to provide another look at Ryli. This speaks volumes for Dr. Parsons, who we already knew is a great Neurologist for Ryli.
That said, Dr. Crawford discussed options for more children (I'm starting to think their bonuses are based on how many kids we have) and the risks that may or may not be associated with that.
After looking Ryli over and reviewing her workup - Dr. Crawford decided that there was a test that could be done in his office that had not been done for her yet. This was electrodiagnostic, and basically they connected electrodes to Ryli and measured the time it took for the signals to travel through her muscles. He expected this to be a formality that would result in another negative, but they did discover one interesting thing. The muscle fibers in her thighs are very minimal. Basically her thighs are mostly fat, where they should be mostly muscle. He does not think that this is atrophy, but the muscle fibers in her thighs did not form correctly from the beginning. This makes sense to us, and it explains her straight-legs as an infant. She never had the strength to pull her knees up, like most babies do. We always associated this with her hip dislocations - but that should not affect her pulling her knees up, but would affect weight bearing. We are learning that Ryli may not be anatomically "normal".
Due to this unexpected result, Dr. Crawford is planning to get Ryli in for a skin biopsy that may help us further track this down. Of course he is also interested in the muscle biopsy that we will be getting for her soon.
The appointment went great and we are happy with the possibility of progress. We'll see what happens!

February 1, 2007 (Genetics)
We met with Dr. Ronald Cohn in pediatric genetics today. Dr. Cohn confirmed that Ryli's previous workup has been very thorough. After discovering that we had recently had one of the most advanced genetic testing done for Ryli, his recommendation was for a muscle biopsy - which we have been working toward for some time now.
Dr. Cohn had some interesting thoughts about the reasons why a person seeks a diagnosis as in our case with Ryli. He believes that the only reason why we should endeavor to find Ryli's diagnosis would be if we were planning to have more children, and we were interested in the likelihood of having another unhealthy child. We immediately disagreed with this, because we want a diagnosis for Ryli so that we can help her get better, or if there is no way to "heal" her, than at least we know what to expect and we can be comfortable knowing that we have done all that we can to help her.
Dr. Cohn explained to us that we have already investigated further than most families ever do. Also, with Ryli's condition, and as many of the "easy" sicknesses that she has been tested negative for, even if she does receive a diagnosis, it would probably be a rare disorder where there would be no treatment nor would anyone know much about it.
This is an interesting point and one that we really did not ever consider.

January 31, 2007 through February 9  13, 2007
We finally got our trip to Baltimore for our Johns Hopkins/Kennedy Krieger visit. We will be updating this page as we go. Check back for updates each day.
We'd like to give special thanks to Donna and Steve Stoecklein for putting us up in their guest house and loaning us their vehicle for our trip. They have made this trip so much easier for us!