When Maslynn was born she needed oxygen immediately. Two days later we were able to go home and enjoy our new daughter. The unthinkable happened when she was just 5 weeks old. Her body shut down, she stopped breathing and she went cold. We rushed her to the local hospital while giving her CPR. At that hospital, she was given too much fluid. Her pediatrician met us at this hospital and was trying to find a hospital that would intubate her while screaming “she is dying on the table we have to do something now”! By the time we arrived, she was a purple/blue tint to her body, and she was still cold with no response. The doctors and nurses acted fast and got her intubated and stable. She was still completely unresponsive and remained this way for days. They ran every test they knew to run, and every test came back pretty normal. They had no idea what caused her body to shut down. The neurologist came in to visit and told us she had extreme and damage had been done due to the overage of fluid she was given. He left us with little to no hope. He wanted to have a shot flown in from California for infant butulism. He had it flown in and it was administered. We were given limited information about Infant Botulism and were told it was exceedingly rare. The day after the shot was given, she was starting to open her eyes, the next day she was taking some breaths, the 3rd day they wanted to take out her vent (hardest day ever with us not knowing if she could breathe on her own), the 4th day they took out her feeding tube. Her recovery time was not adding up to Infant Botulism at all. They did three independent botulism tests which all came back negative. We have yet to find out what she had or what caused this near-death experience, but we believe it is related to Kleefstra Syndrome.
“Not one of her doctors have ever heard of Kleefstra or know anything about it here in Oklahoma.”
Jennifer Cosby, mother of Maslynn
My daughter was not diagnosed until she was almost six years old when another genetic test was performed. We were told she was 1 of 75 in the world. I was absolutely devastated. The hardest thing to hear was there is no cure or treatment plan.
I am a Christian and believe in the power of prayer. This is what got me through all of these horrible days, watching my daughter on her death bed, crying in agony night after night, not being able to tell me what was wrong, not even able to point to what was hurting her, what seemed like endless days and nights in the hospital with absolutely no answers, test after test, being told I don’t know time and time again. God led me to a doctor in California, however, it took us two years to get an appointment. I knew without a doubt that was where He told me to take her. This doctor is an MD but practices holistically as well. Upon completing what seemed like an endless blood test, we finally got in to see her in person. The day we were scheduled to fly out my daughter was in the hospital yet again, but I heard God tell me to go, he would take care of her. I checked her out and we got on the plane. We got to her office and she gave our daughter an IV treatment. She stopped vomiting, an hour later she ate and drank. That night she slept through the night (I kept waking up putting my hand on her chest thinking she stopped breathing because she was not crying or screaming). She received a few more various treatments while we were there based upon her blood test results. Over the past four years, we have worked closely with this doctor and we have been able to greatly to reduce viruses, bacteria, allergies, metal, and toxins that were causing inflammation and causing her so much pain every day. She has also been able to raise her immune system and keep bacteria and viruses away with LDA and LDI treatments. Our daughter started to make progress in her therapies, started sleeping better at night (no longer cried or screamed in agony). Although her sleep pattern is still like a newborn baby, she is no longer hurting. Her hospital stays started getting farther and farther apart. We are down to 1-2 times a year now! We continue to see her every 2-4 months for IV treatments and follow-up (or as we can afford treatments) and continue treatments on a 7–10-day plan at home.
Maslynn’s Kleefstra Syndrome Foundation 