Mar 12, 2018 Latest post:
Mar 20, 2018
Where it all began, from the beginning to how we continue to inspire and support her determination every day.
The day Talia was born we were so elated and couldn’t wait to see her precious little face. To hug and hold her. However, after she was born we noticed that something didn’t seem right with her. Yes, she had 10 fingers and 10 toes along with a beautiful little face. When we held Talia it was quickly recognized by us that her muscle tone was not how it should be. We looked in her eyes and just knew something wasn’t right, but what it was we didn’t know. The experience being pregnant 6 times, with 7 babies and one baby dying before being born gave us the knowledge of what to expect with a new baby and when something isn’t ok. We then had our precious little 3 ½ year old boy die. We honor him every day and continue to cherish all our children. This experience being a parent to all these beautiful children along with the healthcare education and training made us realize something was very different with Talia. At two months old Talia had a grand mal seizure. She also still had such low muscle tone it was like holding a newborn. At 4 months old Talia had another grand mal seizure. It was at this time we insisted someone take a closer look at her and figure out what is causing her seizures and low muscle tone. After her second seizure the neurologist discovered that her metabolic labs came back abnormal. From then on she was sent to Mayo in Rochester to see a metabolic doctor. This doctor specializes in children with a disease called Methylmalonic Acidemia. This is a genetic disease that affects a child’s ability to digest the amino acids in fats and proteins. When this happens to Talia her body produces a toxic chemical called Methylmalonic Acid. It is this acid that becomes destructive to Talia’s healthy cells and body. Over time it causes deterioration in her muscles which causes her to have low muscle tone and to be unsteady when moving. Talia was over two years old before she took her first steps towards walking. This was a huge milestone since we didn’t know if or when she would walk. Talia has Right Hemiparesis, which causes her right side of her body to be weaker then her left side. The Methylmalonic Acidema is invisible to you and I, but it is causing destruction in her. Talia’s white blood cells that aid in fighting off infection are compromised called Neutropenia. She has been hospitalized for Pneumonia at times since her body cannot fight off infection like others can. A simple cold can raise the level of the Methylmalonic Acid, causing more damage to her. This is why it’s important that we minimize any exposure to infectious illnesses. At one point when she was younger the doctors even discussed a possible bone marrow transplant if her white blood cells were too low. If she does get sick she needs certain IV fluids and medications to try and minimize the damage. Talia also has significant vision impairment. She has worn glasses since being a baby in the hopes to prevent long term damage to her eyes. However, the last time at Mayo we learned some very upsetting news about her vision. Talia has now lost most of her vision in the left eye, leaving her basically blind in that eye. We can’t fix it and no surgery can repair the damage her disease has caused. Talia also has two other eye conditions called Strabismus and Nystagmus. Both cause her eye to turn in and both eyes to involuntarily move from side to side at a rapid pace. This affects her vision too and causes debilitating headaches for her at times including migraines. Talia also has a history of an enlarged liver due to the damage from the Methylmalonic Acidemia and has ultrasounds and liver enzyme testing to keep careful watch of her liver. She also has a condition called sleep apnea. We have learned through testing that Talia stops breathing 7 times every hour during sleep. This is caused mostly by Central Apnea which is her brain not telling her to breath. She also has Obstructive Apnea, which is due to her anatomy. Talia will have her tonsils and adenoids out next Summer. This will still leave her with the Central Apnea which will still cause about 6 episodes per hour where her brain doesn’t send a signal to breathe. Talia’s low muscle tone called Hypotonia also has an effect with her ability to move like you and I. She becomes fatigued easily and has a pediatric specialized wheelchair to use for any long distance walking. This low muscle tone is also causing her abdominal muscles to be separated. This can cause injury to her abdomen and result in hernias. Talia had her Umbilical Hernia repaired recently and we will continue to take precautions to avoid any abdominal stress or strain causing injury to her. Talia has Cognitive Developmental Delay and processing issues too along with GI issues caused by her low muscle tone. For Talia, each day is a challenge that brings her daily struggles. Whether she is trying to fight off a virus or infection, she faces many obstacles every day. One of the main struggles that Talia deals with are her legs giving out, which cause her to fall frequently. She now has leg braces to try and help prevent as many falls as possible, while also giving her legs more support since her muscles are so weak after any exertion. Talia continues to inspire all of us with her determination along with her kindness she has for others. Talia receives Physical Therapy, OT and Speech Therapy every day. We spend several hours a week at therapy to try and help give her the best possible outcome since her medical condition causes deterioration over time. She also struggles with her swallowing and is at risk for choking. Talia has amazing doctors taking very good care of her and doing what they can to help minimize the damage over time. We are still shocked by the diagnosis of her vision loss since it is one of many things we have tried to prevent. Talia also receives frequent injections of a medication in her legs to try and help minimize the destruction the Methylmalonic Acidemia has on her body. Long term we don’t know what the outcome will be for her so we continue to give her the best possible care. Due to Talia’s Methylmalonic Acidemia she receives specialized care at Mayo and stays at the Ronald McDonald House. Recently, we stayed at the Ronald McDonald House for a month while Talia was getting all her medical care. Talia struggles daily and all the medical intervention is hard for Talia, however, we continue to give her all the medical care needed along with all the support from so many to her. We will continue to travel to Mayo for her medical care and continue all her medical interventions. As her parents it can be hard to see the daily struggles and difficulties that are present for Talia every day. She still keeps that smile through all these obstacles even with kids bullying her. Yes, she has been bullied by kids due to her medical condition. This breaks our hearts that at such a young age kids would do this. We do everything imaginable to make sure she knows how amazing, beautiful and gifted she is. All this is a lot for Talia and many nights of tears and talks about this don’t make it easier. Some of the medical care that Talia receives include; injections, blood draws, biopsies, tests, procedures, therapies, hospital care, clinic care, and now some surgeries which continue to be very hard on her along with other medical interventions as needed. We do our best to balance her being a kid with a fragile medical condition. Through all the tears, pain and setbacks we believe her determination through all this will give her the strength to fight this disease. She is now 7 years old and in first grade. Thank you all for your love, kindness, support and compassion to Talia. She has a lot to deal with but is so blessed by all the love given to her! Your continued support brings hope for Talia!