Aspyn's Story...

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Aspyn Remar was born on November 14th 2001, our first baby! And wow what a baby, she was beautiful. She was a healthy, but small little baby, weighing 5 lbs 12 oz. On November 15th she was sent to the NICU because her sugar levels were low and her temperature was also low. 5 days later on November 19th 2001 (her actual due date) we got to bring her home. (What an exciting and nerve wracking day, but what an awesome feeling, our sweetie pie got to come home). We were told just to keep her away from people who may have colds until she got a little bigger and could deal with colds on her own. Life was great, she was the best baby ever, she never cried and she was always smiling and happy. Our hearts were overfilled with joy. Every day was spectacular.

We took her to the clinic a couple of times just to have her weighed and have the doctor listen to her little cough. We were concerned that she seemed to be coughing, not a bad cough, just a recurring little one. They told us it must be a virus and just to keep an eye on her. This went on for about 5 months, we would take her in and they would send us home, her lungs were clear, ears looked good, everything looked fine.

For some reason, on April 18, 2002, we decided that this "little cough" just didn't seem right. We took Aspyn to the after hours clinic and she saw a doctor she'd never seen before. The doctor assured us that she thought everything was fine, but wanted to listen to her chest. She said, I don't want to alarm you, but her heart rate sounds kind of irregular. An EKG was done. It showed there was an abnormality there. We were asked to come in the next day to see the Pediatric Cardiologist who then ordered a chest x-ray. After seeing the x-ray he was concerned because her heart looked enlarged. He then ordered an Echo Cardiogram. The doctor asked us to meet him in his office so he could explain something to us. Nervously, we went to his office and waited for him. When he did come in, he didn't say a word. He walked over to his medical books, selected a book, and began to make photocopies of some of the pages. At that point we were so scared, we knew it must be something bad if he had to show us the books diagrams. He broke to us (what we thought at that time) the worst news ever. Our sweet, sweet baby had a condition called Hypertrophic Cardiomyopathy. The doctor explained to us, that it is the thickening of the heart wall that separates the right and left ventricle. We were told to bring Aspyn in on the following Monday for blood work, they wanted to check her for a metabolic condition. The doctor sent us home thinking that there was nothing that could be done. At that point we didn't know what to do or think. Where do we run? Where could the three of us go? There had to be something that could be done for her. After we got home, we received a call from the hospital staff. Rather than wait out the weekend, they asked us to bring Aspyn to the hospital for admittance that night. This way they explained, they could begin to run some blood work to see if this was related to a metabolic condition. Aspyn was discharged the next morning. After two days of misery, we were determined to find answers. We found a very helpful web site at www.hcma-heart.com. After contacting them we learned that this heart condition can be controlled by medication. We were so happy, but we soon found out that this rare heart condition doesn't usually show up in infants, it usually appears in early teen years, if not later. We called the Mayo Clinic in Rochester, MN and were able to get an appointment right away with one of their Pediatric Cardiologist.

To Rochester we went, her appointment was May 1st, 2002. The pediatric cardiologist asked us to first meet with a pediatric geneticist, Dr. David Whiteman, and then she'd see Aspyn. The first thing Dr. Whiteman said when we met with him is that he could not believe how good Aspyn looked. He told us that after reading her medical history, and reviewing her recent labs, he was prepared to admit her to the hospital on the spot. He said he had expected her to look ill and was so pleasantly surprised. With Aspyn's eyes a twinkling, she rewarded him with several of her contagious smiles. He told us at that point he had the results of the blood work done at our hospital back home. Aspyn's labs indicated she had lactic acidosis. Her additional blood work and urine tests led him to believe she also had a metabolic and mitochondrial disorder. Carbohydrates and fats were going pretty much straight through her system. Something in her genetic makeup was not allowing her body to breakdown the essential components of her food (breast milk). Based on how well Aspyn was tolerating everything her labs indicated she had going on, Dr. Whiteman told us he was very optimistic. He told us to meet with the pediatric cardiologist, and he would schedule several diagnostic tests (a skin and muscle biopsy), along with many more blood tests. After meeting with the pediatric cardiologist who performed a sedated echocardiogram, we were told Aspyn was going into congestive heart failure. This is why, we were told, that Aspyn, had that slight cough, and would get very sweaty when she ate. The doctor believed sheíd had this condition since birth. Lasix, Vasotec, and Lanoxin, which were blood pressure meds, were prescribed to help control her heart condition.

Even though we understood how important it was to have them draw blood for testing, we were ready to deny the vampires their wish. Aspyn's veins would contract and would not allow the blood to be drawn, when they would finally start to get the blood, her veins would than collapse, but they kept on despite her protests and our tears. Our poor baby, they poked her and poked her, they tried drawing from her head, her groin, her legs, her neck...they just couldn't get what they needed. Aspyn was bruised from head to toe. After little success, they decided to draw blood at the same time she had her muscle biopsy, which was scheduled for Tuesday, May 7th. We busied ourselves over the weekend, trying to keep our nervous minds occupied with anything but the reality of Aspyn's upcoming surgery. We met her surgeon on Monday, and Tuesday a.m. she had her muscle biopsy. Her surgery went very well, but they still did not get all of the blood necessary for the testing. Wednesday, Aspyn had an EEG, we met with an optometrist and had another echocardiogram. We were so excited. After only six days on the heart medication, Aspyn's heart function was much improved. We had one final appointment with Dr. Whiteman before we could leave for home. He explained to us that this disease is a genetic recessive condition, and the chances of any future children having this disease would be 1 in 4. He started Aspyn on what he called a "cocktail" of medicines, Coenzyme Q10, Thiamin, Riboflavin, Vitamin C, Lipoic Acid, and Biotin (in addition to the 3 heart medicines). We left Rochester on May 9th filled with hope and prayed everything would stay under control. We had no doubt that after Aspyn had a few doses of the "cocktail", her little system would have just what it needed to thrive.

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