Another Child lost

As I sit here this morning I opened my Email to see another child who is losing the battle with FA. Too many have died since we joined the group in August. It breaks my heart everytime I read about it because I know unless there is a cure found that will be at least one of my kids, possibly 2, we don't have anything on paper for the second one but I am fairly certain. It is a hard thing knowing all you can do is sit and watch time pass. I am so thankful for my knowledge of eternal families and that even after this life is over I will see them again and their bodies will be perfected through Christ. My heart is heavy today, and praying for the families who have lost children sooner than they should have, to this disease.

Perspective

This is just a personal rant. For a long time now I have had these thought floating in my head and I need them out, so here it goes. I follow an Autism blogger. She has a daughter who is just a year younger than Daniel, she is a very popular blogger, and has even met with the President. Now before I start I don't mean to offend, and I don't want to minimize anyone's situation, we are all fighting our own battles but sometimes I feel like I was handed a larger one. She blogs about all the things her girl struggles with and all the new achievements. I love reading it and can almost always relate to what she is going through. However lately I feel as though I always find myself thinking if he only had Autism it wouldn't be so hard, or if it was only FA, but he has both and together it is hard. Why does my boy have to struggle both physically and mentally? In a way Autism has sheltered him from the stares and comments of others so he has been oblivious about what others think of him. However he could talk to them and make friends easier if he wasn't Autistic. I keep thinking, this blogger needs to quit whinnying that her kid is Autistic, because at least that's all she is. Mine struggles with everything, physically, emotionally, and academically. I'm not trying to whine and I don't mean to complain I just feel like sometimes Daniel was given more than he should have to endure, I know he will come out stronger and an amazing person but it's hard to watch. And because the worst thing wrong is not autism, it's a life shortening disease, it makes it hard to read her blog. As his mother I want to protect him, to take away his pain, to understand how he feels, to change his condition, to relieve the heart aches, and to ease his worried mind, but I can't and it hurts. I am getting just a small glimpse of what our Heavenly Father must have felt watching his son suffer, and watching us struggle through life. He wants to bless us, he wants to help us, but sometimes he must let us struggle and hurt so we can become stronger, better, and painfully grow into what he wants us to be.

Staying Strong

You know when you look at that mom you see every week, or day, the one with the child who has special needs? And when you see her you always think, wow, she is amazing, she is so strong, she is so much better than me. I don't know how she does it. Well let me tell you a secret, we don't feel strong, we don't feel amazing, and we don't feel better than you. Most of the time we are tired, we are wondering how we have held on as long as we have, but mostly we know we have made it because we have help. We have people to lean on, and friends who care, and we have prayer. I just realized I am one of those women, I didn't see it before but now that I realize people are constantly watching me, I realized I am that woman, who people think is strong and amazing. We are only strong because if you aren't you wouldn't survive, we are strong for our children, to make sure we don't show them we are afraid. I act strong so Daniel doesn't know that every time he goes to school I pray they take care of him, and treat him with kindness. That I will see him at the end of the day smiling and happy. That when the phone rings and it's the school that it isn't the nurse telling me it's an emergency. I can relate to the mom in this video so much. This is what we are going through. Click the link and watch it. https://www.youtube.com/watch?v=dBKEz952RY4&feature=player_embedded Thursday we are doing a wheel chair fitting for Daniel. I am excited and sad all at the same time. I am however trying to stay positive, by focusing on how it will help Daniel. Instead of how he is losing his ability to walk and gets tired much faster. On another note, I have decided to get into extremely good shape so that I will be able to assist Daniel more even as he gets bigger. Which I guess means I'm getting both physically and emotionally stronger, which are both good things.

Realizations

To the girl who just parked in the handicap spot in front of the school and yelled at me when I showed you my tag to make sure you had one, because I am sick of parents parking there to drop there kids off who are perfectly fine and can walk. I apologized to you and felt bad when you did have one, until I watched you walk perfectly fine at a hurried pace into the building, leaving a guy in your passenger seat who i'M ASSUMING THE TAG WAS INTENDED FOR. I just wish you had stuck around long enough to see me carry my son to his walker which was behind your car because there was a curb on one side of my van and your car on the other. and I wish you had been there to hear him say ouch mom you're hurting my ribs, from me having to hold so tight because he can't help hold himself up. Because Quite frankly you are a rude ignorant witch(I wanted to call her something else) and I chose to leave before I had to see you again, I am hoping your passenger will make you feel like crap for what you did this morning. - a mom so sick of ignorant dip sticks Reasons why we need the spot, first Daniel needs access to the ramp, he can't take his walker up stairs or over curbs and grass is difficult as well. Second we need that extra space one one side to put his walker when he gets out. I don't use my handicap tag unless Daniel is with me. Ok I did use it when Nate had his broken leg, but I figured we needed it then. :) I am now super aware of others who are handicapped. I am also thankful at church people let us have the handicap bench, which we share with an older couple. The husband is in a wheel chair, they sit on one end and we sit on the other so Daniels walker and eventually wheelchair can be parked next to us without being in the way.

Over the last few weeks I have realized for the majority of my life, most of the decisions I make will all be based around Daniel and how they will affect him. Everything from where we live, jobs that beau will take, how we spend our money, jobs I can take, what we will do for vacation, how we will get there, where we sit in church, where we sit when we eat out,and so many more. I am also aware that now when ever we go any where people stare, so I can no longer pretend to be invisible, we have to talk to people so they move out of the way, and I also see how uncomfortable Daniel makes them as we walk by, they don't know how to react. That's ok, I understand.

Hypertrophic Cardiomyopathy

So Daniel went to the Cardiologist today and it was confirmed he has the heart condition associated with Friedreichs Ataxia. His Doctor said his is in a mild to moderate state and we have started him on medications to help manage it. Here is some information I found online the website is listed at the bottom of the page.

Hypertrophic cardiomyopathy (HCM) is a condition in which the heart muscle becomes thick. Often, only one part of the heart is thicker than the other parts. The thickening can make it harder for blood to leave the heart, forcing the heart to work harder to pump blood. It also can make it harder for the heart to relax and fill with blood. Causes, incidence, and risk factors Hypertrophic cardiomyopathy is a condition that is usually passed down through families (inherited). It is believed to be a result of several problems (defects) with the genes that control heart muscle growth. Younger people are likely to have a more severe form of hypertrophic cardiomyopathy. However, the condition is seen in people of all ages. Symptoms Some patients have no symptoms. They may not even realize they have the condition until it is found during a routine medical exam. The first symptom of hypertrophic cardiomyopathy among many young patients is sudden collapse and possible death. This can be caused by very abnormal heart rhythms (arrhythmias), or from the blockage of blood from the heart to the rest of the body. Common symptoms include: Chest pain Dizziness Fainting, especially during exercise Fatigue Light-headedness, especially with or after activity or exercise Sensation of feeling the heart beat (palpitations) Shortness of breath with activity or after lying down (or being asleep for a while) Signs and tests The health care provider will perform a physical exam and listen to the heart and lungs with a stethoscope. Signs may include: Abnormal heart sounds or a heart murmur. These sounds may change with different body positions. High blood pressure The pulse in your arms and neck will also be checked. The doctor may feel an abnormal heartbeat in the chest. Tests used to diagnose heart muscle thickness, problems with blood flow, or leaky heart valves (mitral valve regurgitation) may include: 24-hour Holter monitor (heart rhythm monitor) Cardiac catheterization Chest x-ray ECG Echocardiography (the most common test) to diagnose and follow the condition MRI of the heart Transesophageal echocardiogram (TEE) Blood tests may be done to rule out other possible diseases. Close family members of people who have been diagnosed with hypertrophic cardiomyopathy may be screened for the condition. Treatment If you have hypertrophic cardiomyopathy, always follow your doctor's advice about exercise and medical appointments. You may be advised to avoid strenuous exercise. If you have symptoms, you may need medication to help the heart contract and relax correctly. These may relieve chest pain or shortness of breath when exercising. Some medications used include beta-blockers and calcium channel blockers. Some people with arrhythmias may need treatment, such as: Medicines to treat the abnormal rhythm Blood thinners to reduce the risk of blood clots (if the arrhythmia is due to atrial fibrillation) A permanent pacemaker to control the heartbeat An implanted defibrillator that recognizes life-threatening heart rhythms and sends an electrical pulse to stop them. Sometimes a defibrillator is placed, even if the patient has not had an arrhythmia, but is at high risk for a deadly arrhythmia (for example, if the heart muscle is very sick or the patient has a relative who has died suddenly). When blood flow out of the heart is severely blocked, symptoms can become severe. An operation called surgical myectomy may be done. In some cases, patients may be given an injection of alcohol into the arteries that feed the thickened part of the heart (alcohol septal ablation). Patients who have this procedure often show significant improvement. If the heart's mitral valve is leaking, surgery may be done to repair or replace the valve. Expectations (prognosis) Some people with hypertrophic cardiomyopathy may not have symptoms and will have a normal lifespan. Others may get worse slowly or quickly. The condition may develop into dilated cardiomyopathy in some patients. People with hypertrophic cardiomyopathy are at higher risk for sudden death than the normal population. Sudden death can occur at a young age. Hypertrophic cardiomyopathy is a well-known cause of sudden death in athletes. Almost half of deaths in hypertrophic cardiomyopathy happen during or just after the patient has done some type of physical activity. Source http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001243/

My Faith

Today I am filled with so many emotions, however the strongest is a feeling of warmth and peace knowing that because of my faith and the Gospel of Jesus Christ our Family will be together forever no matter what happens to my child or how early he is taken from me. Heavenly Father has a plan for him and I cannot question that.

If you would like to learn more about what I believe go to www.mormon.org

The Answer

So after a very long time we have our answer. Daniel has been diagnosed with Friedreich's Ataxia. We are relieved to finally have an answer. You can read more about it here http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm I'm still researching it so I can't answer very many questions because what I know comes off these pages. Here is another site http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/7/viewAbstract Beau and I haven't talked about it because he had to go straight back to work, but we might consider participating in research and now have a cause to raise awareness about. I am also determined to help Daniel live the fullest life and give him every experience I can. Be sure and read how it was inherited, I can explain that more if you need, but the rest I'm still figuring out. One last thing, it will be so nice to walk into school this year and have some information to give the teachers so they know what it is.

Our Journey to the Answer

This post is super long so I understand if you never make it to the end.

It was 5 years ago when we were told Daniel wasn't where he should be, socially, and with his motor skills. However laws prevented teachers from telling what I should do in terms of getting help.They didn't even suggest I should talk to a doctor, nothing. A year went by with me thinking He is how he is and there is nothing I can do, the pediatrician said he would catch up, that every child is different( isn't that what we always hear, don't compare your child to others). Now he is first grade, grandmas are noticing the way he moves isn't normal, we didn't see it because it happened so gradually. He was even making progress with hand writing, pedaling his bike finally, and other things. I voiced my concerns to the doctor and they were brushed away as if they were nothing, another year goes by. I take a child development class and realize things are worse than I thought and not only is it a physical problem, my child shows an overwhelming amount of signs for Autism. How could he be almost 8 and diagnosed? I always thought Autism was when you child is nonverbal, I had never heard of the other types. Now I know I need to fight for him. 2nd grade starts and it is becoming very obvious there is something wrong, but no one listens.I ask for screenings, the school physiologist says he isn't autistic, I know she's wrong. A five min. observation isn't going to tell you all you need to know. Another year goes by, I switch doctors he gives me what I want a referral to specialists. 5 months go by waiting to get in. 5 precious months, waiting. The neurologist runs test for everything he can think of. After 12 hours of testing The Neuro-psychologist diagnoses him with PDD-NOS (Pervasive Developmental Disorder-Not Otherwise Specified) It is in fact on the Autism Spectrum. That whole year we continued doing tests, and eventually ended up down in Salt Lake at Primary Children's at a Metabolic Geneticist. Everything keeps coming back normal. We move to Texas and another year has gone by..... We wait another 5 months to get into the Metabolic Geneticist here, everything is still coming back normal. All the while he his losing fine and gross motor skills. And there is nothing I can do about it, I can't stop it, teachers want answers from me and I don't have any to give. His physical therapist gets him a walker so he can walk. This year he lost his reflexes in his knees in a 3 month period, we replaced his bunk bed because he could climb up and down and refused to sleep on the bottom. He used to be able to make it around the house unassisted. He now uses his walker whenever he has to go anywhere. He can't pedal his bike, we never took off his training wheels. He can run and play like his bother and sister. People judge me because he watches T.V. and plays video games. But what else is a child supposed to do when he can't run and play? When he can't play with normal toys because if he sits on the floor he can't get up on his own. Sometimes it takes all his energy just to get dressed by himself. Next month another year will have passed. He is my sweet little boy who makes me laugh, has the sweetest spirit and a great sense of humor. He is a comic book encyclopedia, an expert on star wars, and many other topics. He has the memory of an elephant and you can't promise him things you aren't prepared to give/do, because he will remember and won't let you forget. I watch him struggle everyday with all the little things that you and I find simple and easy. I wish I could take his place, make things easy, or fix him, but I know I can't. God put him here in this body for a reason, it's not my fight to fight. He is being shaped into a wonderful, strong person. In 18 days I will get test results telling me why he is the way he is. I have been waiting for this answer for at least 3 years, and now knowing that it's coming, wonder if I am truly ready?