Hope for the Pattons

Family of 5 in need of help with medical travel expenses. Mother Qwyntnn Patton and three daughters Kaydence (8 yrs), Mallory (4 yrs), Presley (1 yr); diagnosed with extremely rare genetic mutation of the EPhB4 gene and CM-AVM2 an extremely rare vascular syndrome. Your help is greatly appreciated! Please view our story below and in the updates. ⬇️⬇️⬇️⬇️⬇️⬇️⬇️⬇️⬇️⬇️ ————————————————————— At the age of 2 (July 2018) Mallory was referred to Children’s Mercy in Kansas City, for a very large spot on her leg that was very hot to the touch and a few marks on her collarbone. From here Mallory was diagnosed with a rare disease called Scleroderma, imaging and tests were done, treatment started which included multiple steroid infusions and weekly injections of a chemo medication that treats autoimmune diseases along with certain cancers as well as a bi-weekly arthritis injection. Fast forward 1.5 years we were still traveling to and from KC frequently for appointments all while she was still receiving treatment. The only changes we witnessed were side effects from the medications and rapid growth of the areas as well as new spots forming, there was no improvement in the areas we set out to treat. Mallory experiences severe joint and bone pain in her lower extremities especially the leg in question. In September 2019 we decided it was time to seek answers as to why she wasn’t improving. We traveled to Pittsburgh, PA to UPMC for an appointment with one of the leading pediatric specialists for Scleroderma. At the appointment we were told multiple times by doctors that they had never seen anything like what Mallory has. From there she was seen by multiple doctors from all over the hospital and at one point we were sent to another hospital in Pittsburgh to be seen by one of Dr. Torok’s colleagues Dr. Garret. As soon she met Mallory she looked over her and told us from there after looking at myself as well that it was likely that we both had a condition caused by a genetic mutation and that was vastly different than what Mallory was diagnosed with, after looking at a picture of Mallory’s older sister Kaydence (8 yrs) she was fairly certain that she too had the same mutation and syndrome. After this Mallory was able to stop the medications and it was decided that she did not Have Scleroderma. From here we traveled back to Joplin and started traveling to Kansas City even more frequently. Mallory went from seeing one specialist every month-3 months to a team of specialists multiple times a month in Kansas City. We live 2.5-3 hours away so taking so many trips is financially straining. In October 2019 Mallory received her genetic results. She is positive for and even more rare genetic mutation and syndrome than doctors initially suspected. She was diagnosed with a mutation on the Ephb4 gene and CM-AVM2 or Capillary Malformation Arterio-Venous Malformation Syndrome 2. There is very little known about this and very few diagnosed with this. The particular gene that is mutated normally forms a protein that helps the body form vascular systems, the gene being mutated causes the vascular system to be severely irregular and form AVMs or tangled webs of arteries and veins. These can form all over the body and can cause various conditions and problems. Unfortunately there is no clear cut treatment for CM-AVM2. Following Mallory’s diagnosis Kaydence (8 yrs) and I were both tested. Following strange markings all over our bodies and health issues with multiple systems of our bodies. December 2019 our results came back positive as well and we were diagnosed with the same syndrome. More appointments in KC have been added for Kaydence for imaging/tests/appointments , trying to find a specialist for myself is proving more difficult because of the extreme rarity of tall of this. From here it was decided our youngest Presley (1 yr) should be tested as well. Even showing little to no obvious signs externally. In January 2020 Presley’s results came back and she too is positive for the mutation and will undergo imaging and tests again more trips to Kansas City. From here not much is known about the future for the four of us, other than the fact that we will be taking the 2.5 hour trip to and from KC from Joplin more frequently than ever. We will also at some point be seen in Pittsburgh, PA and possibly elsewhere. The financial toll this is taking and will continue to take on our family of 5 at this time is almost immeasurable, we are so appreciative of the love and support that we have received during this journey.