Help Little Phoebe Please!!
Our friend's, (Dan & Adrienne Green) 3 year old daughter, Phoebe, has been diagnosed with a rare and life-threatening genetic blood disorder. Autoimmune Lymphoproliferative Syndrome (ALPS) is an inherited disorder of the immune system. In ALPS, unusually high numbers of white blood cells called lymphocytes accumulate in the lymph nodes, liver, and spleen, which leads to gross enlargement of these organs. ALPS can cause numerous autoimmune problems such as anemia (low count of red blood cells), thrombocytopenia (low count of platelets), and neutropenia (low count of neutrophils, the most common type of white blood cell in humans). Her medical bills are skyrocketing, and it's just the beginning. Her parents will need to travel the United States for specialists at their own expense. Because ALPS is so rare, even though it is life threatening, none of the costs are covered by insurance. Please share this page and forward it to whomever you can. Together, voice by voice, Phoebe's roar is getting louder!
Here is her Medical History Blog:
Phoebe Update: I know I have been pretty vague since we have been back from the NIH, and that is partly because I was hoping to have some more information rather than sharing "they said....but don't know what to do other than wait" and the other part because we have been living with "they said...but don't know what to do other than wait", and that has not been easy to deal with at all.
We have added 2 new specialists to Phoebe's team of doctors here in NJ since our return from the NIH. Both were added because of information and findings we were given while in Maryland.
The first specialist is a neurologist. The NP, lead doctor and genetics team found many "flags" with Phoebe's extensive physical exams. They discussed possibilities of Spina Bifida, tethered spinal cord, and other complex rare diseases (cause rare is who Phoebe is) that are impossible to say let alone spell off the top of my head. The neurologist could not rule any of the possibilities out as she found delays in every area she examined (global development delay), low muscle tone (hypotonia) and spine deformity. She has ordered a bunch of lab work and wants to do an MRI from the tip of Phoebe's head to the tip of her toes. But the reason that brought us to the other specialist has put the MRI on hold for now.
The second specialist is a pulmonologist. A few weeks before we left for the NIH Phoebe developed a dry cough. We took her to her pediatrician, who found no reason or evidence for Phoebe to have this chronic cough. Listening to her lungs sounded crystal clear and examining her fully showed no infection or illness. Her cough didn't go away. She went to the NIH still having this dry cough and her doctors listened and examined her and couldn't hear or see a reason for her to be coughing. The CT, however, showed a completely different picture. The images showed reticulonodular and ground glass densities in her right middle lobe. Which means her right lung's middle lobe has atelectasis (collapse of the lung).The CT also found a prominent enlarged right lower paratracheal lymph node.
At our first visit with the pulmonologist, he did a nasal swab checking for any viruses that could be the cause, but all results came back negative. He also tried a round of antibiotics to see if aspiration was the cause (which was a possibility because she has difficulty swallowing), but without other symptoms or signs of infection he felt this was the least likely case. Two weeks later we returned for a pulmonary function test and to follow up with him. Phoebe's cough was still present. We have incomplete results with her pulmonary function test. The first round showed some signs that could be consistent with asthma (also atelectasis), but given her age they were unable to complete the second part of the test. He ordered a chest xray and started her on a steroid inhaler at two puffs two times a day for a month. Today is day 5 of the inhaler, and I am sad to say that so far it has not made a difference. The pulmonologist is waiting to hear back from the NIH about their feelings/concerns of a repeat CT scan and advice on proceeding, especially if this lung issue is a part of her immune disorder. (which is a possibility - Middle Lobe Syndrome can occur in patients with immune issues like Phoebe)
What we do know is that our next step after trying this inhaler, especially if it does not help, is a lung biopsy at CHOP.
Which is why her MRI is on hold. She would need to be sedated for an MRI, and if she needs a lung biopsy they don't want to sedate her twice within a few weeks of each other.
The NIH also did not run all of the tests they wanted while we were there. Because many teams consulted and met her, they have been waiting for each team to conclude with their own evaluations and tests they want to have done so the lead doctor can compile a complete list of tests to run. We should hear from them within the next week or two, and then they will be sending the vials, kits, collection containers etc to Phoebe's immunologist so we can draw the samples here. Once the samples are drawn, they will be overnighted back to the NIH for the tests to be run.
So unfortunately, I cannot say much more than what they said, and that they really don't know, and all we can do is wait. And while it does seem unfair and cruel, I have to keep repeating what Phoebe's immunologist told us when we returned home. "If they had an idea, even if it was a rare disease but one they have heard of or know things about, they wouldn't have accepted Phoebe into the program. The NIH wants her because she is THAT rare, with probably more than one rare disease. And they won't stop researching. Because she is helping so many people by being there."
Which, from day 1, is what we have always wanted. We have always said our fight, a purpose to our events, the reason for our blog, why we participate in Rare Disease Day in DC, basically everything we do is NOT just solely about Phoebe. It's for ALL the families that struggle with rare disease, insurance denials, and chronically ill children/family members.
I guess the easiest way to start this post about our last day at the NIH is to say that even before we went down there I did not expect to come home with any answers or a diagnosis. Phoebe's health has been a mystery for almost 4 years and she has baffled over a dozen specialists. We have heard "I don't know" from doctors more times than I can count. I was not expecting three days to give us the answers we have been fighting so long for.
But what I never expected was to be coming home with what we did.
I never expected to be coming home with more questions than we went down there with.
I never expected to be coming home with the knowledge that it is most likely multiple diseases/disorders affecting Phoebe and that they don't know what any of them are or how any of them are connected let alone if they are connected.
I never expected to be coming home knowing testing that we thought could help us with a diagnosis offer very little help because of the severe lack of knowledge and understanding of the complexities of 90% of the genome and immune system.
I never expected to be coming home knowing that there is a very good possibility that we will never have a diagnosis. That far too many people pass without ever being diagnosed.
I never expected to be coming home with another system of Phoebe's having complications, which is as equally scary as it is a blessing. It was not what they were looking for or expecting to see on the CT. But we would have never known until it became really dangerous.
My first initial question after hearing all that I did at our exit meeting was "what do I do for Phoebe now?" A simple question that for a brief moment I forgot I already knew the answer to.
We continue to fight. We continue to search for answers. We continue to raise awareness for Rare Disease and Undiagnosed patients. We continue to treat every flare up. We continue to do for Phoebe everything we have been doing before we went down to the NIH. We continue to Roar.
And while we do, the NIH will continue to run tests and do research on Phoebe's case. And maybe, if we are lucky, one day we will have the answers we need.
Phoebe woke up Saturday morning and her face was really round and swollen, her eyes were sunken in with dark circles underneath them and she did not have a lot of energy. Normally she would want to run around and play, especially when friends are over, but instead she just wanted to sit around whether she was with the other kids or not.
Something told me to check her neck to see if any more nodes had grown or if any of the ones that are already enlarged grew any more.
My heart sunk as soon as I felt her neck. Two areas with protruding masses. And as her history has proven, what is visible is never the whole thing. Their size is always much bigger, buried into her neck.
The last time they got this big multiple nodes had fused together and she was barely eating or drinking because of the difficulty it gave her swallowing.
But like we normally do, we look for some joy or reasons to celebrate each day. Anything to help us focus on the positive and not be consumed with the stress and fear of the unknown. And our reason this weekend was something we never thought we would see or celebrate.
Phoebe is a preschool graduate!!
This is first school year that Phoebe has been able to be a student and attend from September through June! With the amazing special education program in our school district, Phoebe was able to attend preschool in a program that made a schedule that fit her medical and physical needs.
In the fall Phoebe will start Kindergarten at her home school, and her team there is already starting to put a program and schedule in place for her that will be based off of her health, physical abilities and with complete guidance of her doctors.
We are so blessed to be a part of this program in our school district. It is allowing Phoebe the chance to experience things we never thought she would get the chance to.
At her follow up discharge appointment with her immunologist earlier this month, they officially stopped Phoebe's medication. The ulcers are a side effect that effects 15% of patients. With Phoebe falling into this 15% and how severe they affected Phoebe and the condition it put her in, her doctor felt that it is not safe to restart the medication.
While her parents absolutely agree it is not worth the risk to restart this medication, the decision to stop it has put them back to where we were in October... no answers, no treatments, and no relief from the pain and swelling for Phoebe.
Hoping for a cure and recovery for Phoebe
Hello Tressa, Thank you for leaving your message. Our prayers go out to your daughter and your family as well. The Greens are determined to raise awareness and attention to ALPS and offer help to others like yourselves. Stay with us on this journey!
My daughter, Presley, has ALPS as well! She just turned 3!! I will keep you and your family in my prayers, as I know your struggles!