Joe's Fight Against Alveolar Soft Part Sarcoma
Organized by: Bridget Agnello
Pheresis Over & Gearing Up for Vaccinations
April 16, 2016
Hello and thank you for reaching out to help. I'm Bridget Agnello and my 13 year old son Joseph was diagnosed with Alveolar Soft Part Sarcoma (ASPS) - Stage 4, on June 27, 2015 when he was 12 years old. Please keep checking back for updated information.
On Sunday night, June 14, 2015, while lightly hitting his thigh, Joe turned to me and said, "Mom what's this thing in my leg?" Thus began this cancer nightmare for us. At least we had some luck on our side -the next day Joe had an appointment with his pediatrician, Dr. Linda Bolton, in Birmingham. After palpating the large mass, Dr. Bolton left the room and returned 20 minutes later, telling us Joe had an appointment at Beaumont Hospital for a femur ultrasound on Thursday morning, June 18. On Thursday morning the radiologist spent almost 30 minutes mapping and re-mapping the mass in Joe's thigh. Finally he dismissed us, only saying that Dr. Bolton would contact us later in the day. The fact that he didn't remark on what he observed told me something was wrong.
Just before 2 p.m. Dr. Bolton calld me at work and asked me to bring Joe back to the hospital for a complete blood panel (CBC), a chest x-ray and a femur MRI. We also had to meet with a pediatric surgeon to discuss the situation. The surgeon, Dr. Nathan Novotny, explained that he would do an incisional biopsy, to remove part of the mass for pathology testing. He said he would switch to an excisional biopsy (remove the entire mass) if he saw there was something unusual about the mass. The next morning, on Friday June 19, 2015 we showed up for surgery at 9 a.m. We were expecting a 45-minute procedure, but when several hours went by, it became apparent something was terribly wrong. Dr. Novotny came out and spoke to us at 1:30 p.m. and said that he removed a the tennis ball-sized tumor (7.5 cm - see picture) because it looked "suspicious". Joe was supposed to come home after the procedure, but Dr. Novotny admitted him for excessive blood loss and pain management. We began the 7 to 10-day wait for the pathology report to see what we were dealing with.
Saturday June 27th Dr. Novotny called me just after noon to tell me that Joe had this extremely rare, uncurable sarcoma that no one knew anything about. He followed up this devastating news by saying that the tumor only had 1 mm of cell margin clearance. In pathology terms, this is considered an "unclear margin". He went on to say that he needed to perform an incisional resection; re-open Joe's incision and remove even more muscle and surrounding tissue to ensure all the malignant tissue was removed. Needless to say, Joe took that news badly. He had a complete meltdown, upon finding out he had to go back into surgery in less than 38 hours. But, as usual, he dealth with the panic and the fear and became very zen about this second surgery. Dr. Novotny removed a large amount of Joe's lateral and posterior Quadriceps muscle. In all, Joe lost approximately 35% of his Quadriceps muscle. He spent the remainder of his 7th grade summer vacation working with physical therapists to regain full use of his right leg.
Following this second surgery, Beaumont Children's Hospital linked us up with St. Jude Children's Research Hospital, since Beaumont has never treated an ASPS patient. We flew to Memphis, TN on August 3, 2015 to meet with Dr. Alberto Pappo, Director of the Solid Tumor Division. He sent us home after 5 days of testing and consultations, saying there was nothing he could do for Joe. St. Jude has only consulted on/treated 11 ASPS patients in the past 40 years. He stated that there wasn't enough research data available to create a "successful" treatment protocol for this little known sarcoma. Despite that soul-crushing news, Joe began taking a full dose of a TKI medication called Sunitinib on August 8, 2015. However Sunitinib's side effects are not very pleasant. At various times Joe experiences one or more of the following side effects: nausea, vomiting, migraines, visual distortion, acute tiredness, open sores on his hands and feet, skin rash, hair loss, fluid retention, hair pigment loss and acute arthritis. That's not quite what I thought puberty would entail when Joe hit his teen years....
While hospitalized, a chest MRI showed that the ASPS has metastasized to his lungs. The Children's Hospital of Detroit oncology radiologist said there are too many tumors on the surface and deep in every lobe of Joe's lungs to count. At this point, radiation and surgery is no longer an option; the amount of radiation required to shrink these dozens of tumors would destroy his lungs. Surgery is also not an option; the only U.S.-approved lung cancer surgery would lead to critical blood & tissue loss due to the amount of tumors and ultimately infection. Doctors said Joe won't survive the procedure. So in my research, I found several overseas locations (England, Israel, Japan) that perform "Laser-Assisted Metastasectomy" for treatment of ASPS lung tumors. This is a targeted laser procedure that's been performed abroad successfully for over two decades. Dr. Novotny is helping us vet each location before we decide what would be best for Joe in the long term.
Joe is a patient at University of Michigan C.S. Mott Children's Hospital and he also has a Miami, Florida oncologist, Dr. Breelynn Wilky of University of Miami-Sylvester Comprehensive Cancer Center. Dr Wilky is one of very few ASPS cancer researchers in the U.S. She believes that a new targeted combination immuno-therapy medication is the strongest method available to keep ASPS from not only advancing but to shrink existing tumors. Unfortunately, Joe is only 13 years old and over 90% of U.S. medical trials are geared toward adults. Dr. Wilky is talking with Merck Pharmaceuticals to see if they'll allow Joe into the trial she has beginning in February, since Joe is currently the height and weight of an adult.
ASPS is not a typical sarcoma, because it involves a specific breaking and swapping (in utero) of an arm between chromosome 7 & chromosome 11; known as an “unbalanced translocation.” Symptoms are often undetected until the cancer has spread and secondary symptoms surface. ASPS is one of the rarest sarcomas in existence striking young adults and children. Between 1,500 and 1,700 individuals are diagnosed with a bone or soft tissue sarcoma each year, comprising about 15% of all pediatric cancers. Out of those 1,700 sarcoma patients, less than 85 young people a year will be diagnosed with Alveolar Soft Part Sarcoma.
ASPS metastasizes to the lungs and to the brain primarily. Unfortunately, ASPS is highly resistant to chemotherapy. Surgery and radiation remain the primary methods used to control the cancer's growth. But this has not proven to be a very successful treatment protocol.
Because of the rarity of this sarcoma type, treatment options are extremely limited. Forms of treatment such as chemotherapy, surgery and radiation have not proven fully effective for the long-term management of the disease. Very early clinical trials using inhibitor therapies (Tyrosine Kinase Inhibitor [TKI] medication that shuts down the blood flow within the tumors) have shown some response in less than 30% of patients it was administered to. So much more research is required. Because ASPS clinical trials are still in the early stages, long-term prognosis of patients is classified as unknown to poor at best. To give you a high-level view of where your research dollars go; sarcoma research receives less than 1% of cancer research funds. ASPS itself receives nothing just like other rare sarcomas such as Pediatric Wild Type Gastrointestinal Stromal Tumors (GIST).
We are hoping to use the CrowdRise funds for several purposes.
1. To help pay for the medical costs that aren't covered by our Blue Cross policies.
2. To help offset daily living expenses. When I (Bridget) take time off from work for one of Joe's medical appointments or hospitalizations, I don't get paid because I've used up all my paid time off. (Traveling to Miami or to Boston or elsewhere in the U.S. costs airfare, ground transportation, housing, meals, etc.).
3. To pay for surgical/medical treatment outside of the U.S., if oral/IV medications fail and that becomes the only viable treatment option.
4. I am starting a non-profit charity to raise money specifically geared toward ASPS research so that Dr. Wilky, Dr. Kevin Jones (Univ. of Utah-Huntsman Cancer Institute), Dr. John Goldberg (Agenus Inc.), Dr. Giannoula Lakka-Klement (Tufts University Floating Hospital for Children) and Dr. Yosef Landesman can concentrate on finding a cure for ASPS and not halt their precious work to pursue funding sources.
I've just listed the major ASPS researchers in the U.S. They need all the help they can get to save current and future children/young adults with this unrelenting disease. Thank you so very much for reaching out and helping us to save not only our teenage son, but also future generations of young people who will never have a life without your generosity. Please know that Joseph and I appreciate every one of you! Keep checking back for updates and thank you for walking this painful journey with us....
Note from Bridget
Please feel free to friend me on Facebook, Twitter or Instagram. My contact information is below--I look forward to saying hello all of you!
Facebook: Bridget Agnello (in Rochester, MI)
UPDATE: JANUARY 12, 2016
I thought we would have more time before Joe became symptomatic, but it doesn't look like it. I took Joe to his Pulmonologist's office this afternoon for a Spirometry Test to assesses how well his lungs work by measuring how much air he inhales, how much he exhales and how quickly he exhales. In August 2015, Joe's lung function was measured at 96%. Today it measured at 85%. In 4 short months he's lost 11% of his lung capacity. Joe has a lung CT scheduled for Monday, January 18, so we'll see if the tumors are multiplying or if the existing tumors have gotten bigger.
UPDATE: JANUARY 18, 2016
Today, Joe had his first appointment with Dr. Mody, his new University of Michigan-C.S. Mott oncologist. He said Joe's treatment options would include either switching Joe to a new med called Pazopanib or putting him on an inhibitor medication called Pembro, if they discovered that Joe's tumor is expressing a high amount of protein. Mott is also going to perform a Tumor Profile, which will tell us exactly what the primary tumor is comprised of (and hopefully clues about how to kill it), as well as a full Genetic Sequencing of Joe's DNA. While the sequencing won't help treat the ASPS, it may indicate what other health issues Joe is coded for. It will take approximately 8 weeks to get these results. I have REALLY got to work on my patience!
UPDATE: JANUARY 25, 2016
Joe had a lung CT today at Mott. The radiologist will compare these results to the lung CT Joe had in October at Children's Hospital in Detroit. This will give us a clear picture of how the sarcoma is progressing in his lungs.
UPDATE: JANUARY 31, 2016
The lung CT showed that Joe's existing tumors have unfortunately doubled in size and now there are innumerable tiny new tumors in areas that were previously clear. This tells us that the current medication Joe is taking (Sunitinib) is not working. The GOOD news is that the CT showed no metastasis to any other thoracic organ, bone or soft tissue. At this time, it's contained within the lungs. His largest tumor is 9 milimeters (mm), which is 1 mm short of the FDA requirement for trial participation. Dr. Mody wants to put Joe on Pazopanib and see how he responds to that after a few months. But my gut feeling is that Joe's body is not going to respond to the chemo TKI class of drugs (Sunitinib, Pazopanib, Cediranib). Mody also said if the Tumor Profile shows that the tumor is expressing high levels of PD1 or PD-L1 protein, he would try to get Merck to allow Joe access to the new inhibitor medication Pembrolizumab (a.k.a.--immunotherapy drug PEMBRO) on a "Compassionate Use" petition.
Joe's father and I talked with Dr. Wilky in Miami, FL on Thursday, January 28th. She said she'd like to give Joe an anti-ASPS-specific cancer vaccine created using his own tumor. This is also known as Dendritic Cell Therapy (DC Therapy). It would re-start his immune system. Then she would layer the PEMBRO medication on top of the vaccine. This sounds good in theory to me, but in reality this combination has not been used on a child yet. Joe would be the first pediatric patient in the United States to undergo this treatment protocol. While the fighter and advocate for Joe wants to hit this sarcoma with everything available, the Mom in me stops and worries about the physical toll it will take on my baby....
These medications are all considered "experimental" and have not been approved by the FDA yet. They are only in trial use thus far. That means that Al's Blue Cross and my Blue Cross will refuse coverage. Merck has not responded to Dr. Wilky's request for "Off-label Compassionate Use" of Pembro. She will also make this request of the FDA; it can also provide us with Pembro for free. However, if the FDA refuses our request as well, then each IV infusion will cost $35,000. Joe would need one every 3 weeks.
I'll write more later... it's almost 11 p.m. and I'm so tired! Thank you for following our story. I'll be putting up a web page in the next couple of weeks, so if you want to write back to us you can. It would be great to hear from you.
UPDATE: February 23, 2016
Joe and I just got back from Miami, FL yesterday.