One Step Forward, Two Steps Back - April 24, 2017
Journal entry by Kate Brown — 4/24/2017 After a few great days with some progress in the right direction, Ella's condition got drastically worse yesterday.
She was crying and breathing over her vent causing her oxygen levels to decrease and CO2 levels to increase. To capture her and get her to an ok place the nurses had to give her a paralytic and significantly increase her vent settings. We were confronted with the possibility that this was her diagnosis getting worse. The other possibility was that she had a new infection.
Dan and I again faced the reality that this might be our last day with Ella. This is by far the worst we have ever seen her, which was even more difficult to accept after a few days of her appearing to get better. Twelve hours later some bacteria grew on her culture. Hearing that our very sick daughter had a "treatable" infection (on top of everything else she has going on) was actually a relief compared to the possibility that her disease was getting worse and they had already done everything they could.
Again we are stuck waiting to see if she can overcome even more. This week is going to be a very difficult one. Thanks for the continued love and support!
Ella, Kate, and Dan
THURSDAY - April 6, 2017
"Stable" - Journal entry by Kate Brown
Before this week when the doctors told me that Ella was stable I wanted to pull my hair out. She was in the ICU with a breathing tube and a morphine drip and everyone kept saying, "Well, she is stable". I imagined that whole time that the line between stable and critical was very thin. And it was. Now stable is exactly what I hope to hear when I wake up in the middle of the night, or after I run downstairs to grab a bite to eat. That she is still stable. And she is.
The good news: We got the new experimental medicine. She is on a new treatment plan and she is "stable"... stable will all the medical support the hospital can offer... hopefully stable for long enough for this medicine to work. Hopefully it will work and hopefully all of the stress and damage done to her body is reversible. Those are the things we are hoping for now. The doctors have been honest with us and told us that while they have seen babies as sick as Ella recover, it is rare. But for the past 12 weeks everything about Ella has been rare so we are hoping the trend will continue and we will start to see things swing in the other direction soon.
We will continue to try out best to keep everyone updated and continue to believe in Ella's strength. #lilasskicker #ellastrong
Thanks for the continued love and support,
Dan, Kate, and Ella
WEDNESDAY April 5, 2017
Some good news! Approval for IL18 was granted late yesterday by the drug company and the FDA. This is a huge step in brining Ella closer to a recovery. She is scheduled to start the new medication today. Your continued thoughts and prayers for a positive result are greatly appreciated.
Hi, my name is Ella Brown. This is the story of my life...so far...as told by my parents Dan and Kate.
March 23, 2017
Ella was born prematurely on January 11, 2017 by emergency caesarian section. She was born with a rash, an enlarged liver and spleen and other complications requiring frequent blood products. On January 26th she was transferred from the NICU at UMass Memorial to the NICU at Boston Children’s Hospital with a diagnosis of HLH (Hemophagocytic Lymphohistiocytosis).
While initially Ella was diagnosed with HLH her doctors continued searching because despite her symptoms they could not find a cause. After a never ending string of tests and weeks of treatment, including chemotherapy it was discovered on February 21st that Ella has an extremely rare genetic mutation on a gene called NLRC-4. The genetic test looked at all of Ella’s genes for variants and they found one on a gene called NLRC-4. Due to these results her diagnosis has changed. Ella does not have HLH.
The mutation is both newly discovered (within the past 3 or so years) and rare as less than 10 people have been identified with it. Due to these factors there is not a lot of information on it. What they do know is that it is an autoimmune inflammatory response that they believe is related to the stomach. Food in the stomach can trigger an inflammatory response and cause the high levels of inflammation we have seen in Ella since she was born.
The Rheumatology Team has talked to other doctors who have treated patients with this genetic variant and the treatment for each individual has been a bit different. For Ella they are giving her stomach some time to rest by putting her on IV nutrition and continuing with an experimental medicine that she has been on for a little over a month. This experimental medicine blocks the protein that is known to cause inflammation that may be contributing to her inflammatory state. The hope is that once she is stabilized, they can start to find a food her stomach will tolerate and then throughout her life we will continue to do the same.
The good news is NO MORE CHEMOTHERAPY and NO BONE MARROW TRANSPLANT in her future!
The scary part is this genetic variant is so new and so rare that we do not know what the future holds for Ella. We are hopeful that they will find a medicine that helps her and we know that most likely she will have a very restrictive diet throughout her life and very frequent medical follow-ups. We still have a long road ahead finding a treatment plan that works and allowing her body time to heal.
Now that we have a more definitive understanding of what is making Ella sick, we are looking forward to updating you on her continued progress of the next few weeks and months.
Baby Steps - April 21, 2017
Journal entry by Kate Brown — 4/21/2017 We are so happy to write a journal entry with some good news!!
After quite the roller coaster ride, over the past few weeks, Ella's inflammatory markers are decreasing at a steady rate! The new medicine, that we started about two and a half weeks ago, seems to be working well. Now we are waiting to see how well she will recover from any damage that has already been done. Some other recent tiny signs of progress: she is requiring a little less oxygen from her breathing vent, it seems like she is requiring a tiny bit less blood products, and she is having some nice, calm awake periods where she will interact with Dan and I while we read her books, sing her songs, and spin her elephant mobile. It is difficult to balance this great news with the reality that she is still very sick and requiring a lot of support and nowhere near "out of the woods". But we are so thrilled to see some progress in the right direction and praying for continued progress over the next few weeks and months. Thank you for your continued love and support. We can not possibly convey how much it means to us!
So much love,
Ella, Kate, and Dan
Lost - May 1, 2017
Journal entry by Kate Brown —5/1/17 Our beautiful princess lost her fight yesterday morning. We know if love could have saved her it would have a million times by now. She passed away peacefully in our arms and is no longer suffering.
Thank you for your continued love and support. We are so sad that Ella didn't get to meet you all.
Roller Coaster - April 14, 2017
Journal entry by Kate Brown — 4/14/2017 It goes without saying that these past 3 months have been a roller coaster ride for Dan and I. But this has never been more true than the past 2 weeks. We have been clinging to any signs of hope and recovery that we possibly can (and there have been some!). However, we have also been reminded how fragile Ella is right now. This past Tuesday, again Ella's Nurse Practitioner looked at Dan and I and said that she thinks Ella is dying and asked if we want to take her off the ventilator and hold her. Her blood pressures were climbing and her heart rate was dropping. We said no and spent a long time snuggling with her as best we could with head rubs, lots of kisses, and hand holding. They were able to stabilize her blood pressure with some medicine and her heart rate, although it still remains low at times, has been stable-ish since. We are constantly amazed that this little girl is managing to hang in there.
Signs of hope: since we started the new medicine she has had some really nice, comfortable alert periods every day, some of her inflammation markers are coming down (although others still remain too high to measure), and she is requiring a little less for blood products this week.
Thanks for the continued love and support,
Dan, Kate, and Ella
MONDAY April 3, 2017
Difficult Days - Journal Entry by Kate Brown
Thanks so much for all your continued support. Ella had a very difficult weekend. She rapidly declined over the weekend and yesterday Dan and I were asked to make a difficult decision: keep her comfortable and snuggle with her for the time she has left or ask the medical team to do everything they possible can to keep her alive and try to save her life, which means medically sedating her and putting her on a heavy duty breathing device that does not allow for her to be held.
Dan and I are not ready to give up on our little munchkin so we asked them to do everything they can and asked what that entails. She has stabilized a bit on the new breathing device paired with some pretty heavy duty medicines.
It is difficult to tell if her rapid decline is due to an infection that they can not find or the progression of her disease (which can look identical to an infection). The doctors have started testing and treating her for an infection. This is not something new for Ella. She has had many work-ups to test for infections and many courses of treatment to make sure we are protecting her against them.
As far as the progression of her disease, the experimental medicine that she is on does not appear to be enough to get her healthy, however because it is experimental the drug company does not want to allow the use of other drugs while using this one. There is a different experimental medicine that has been effective in treating patients with this genetic mutation. The doctors are working very hard to get Ella compassionate use of that medicine at which time we would discontinue the medicine she is currently on an immediately and start the new one in a last ditch effort to find something that will save her life!
We are not sure if it will work but we know in our hearts we have to try and we have to hope that it will.
We know that the weeks ahead will be difficult. We will try to continue to update everyone here and please know if you reach out directly that we love you and truly appreciate the continued messages and support from everyone! Please continue to reach out and send us your love! And if we don't respond please know that your message made our hearts smile for a moment, it is just a bit easier for us to type out all the details once where everyone can read them.
Again thank you so much, we are fighting hard and we know Ella is fighting even harder.
Dan, Kate, and Ella