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.