oldest living person with sma type 2fantasy island amusement park abandoned

Feeding and breathing problems may also develop. In patients with SMAtype 3, symptomsusually appear after their first 18 months of life. It replaces the damaged SMN1 gene that causes SMA with a, Spinal muscular atrophy (SMA) is a collection of inherited neuromuscular diseases. }); $('h2').each(function() { Children with type 3 SMA can do the most physical activities, but they may tire. DOI: Spinal muscular atrophy: Signs and symptoms. Plenty of resources are available online, including information on support groups and services. Life expectancy depends on the SMA type a person has, which treatments they are eligible for, and how early they begin them. Be sure to consult with a health care provider before trying any new treatments. Muscle weakness is the main symptom, and this can affect breathing. Just getting up in the morning takes him two hours and three aides. Aldrich pushed it out of his mind, but by his late 30s, he noticed his gait was different and he was moving more slowly. Steve Mikita, 55, is believed to be the oldest living person with spinal muscular atrophy, which he was born with. Onset occurs within the first six months of life, when these babies first start showing evidence of notable muscle weakness, reduced muscle tone, and movement deficiencies. }); 3 W Garden St Babies with the condition: have very weak and floppy arms and legs (hypotonia) have problems moving, eating, breathing, and swallowing. Additionally, with help from patients involved with Cure SMA, we developed a novel measurement scalea system for quantifying changes in an SMA patients motor skills and their impact on daily life. He said, You have a genetic disease. Genetic testing also can be used to identify SMA carriers people who carry one mutated SMN1 copy. Type 0 causes symptoms immediately at birth. Learn more here. Aldrich was first misdiagnosed with a fast-moving degenerative diseaseonly to be told a year later that he actually had spinal muscular atrophy (SMA) type 4. I now make enough to not be able to afford insurance (sighs). Steve Mikita, 55, is believed to be the oldest living person with spinal muscular atrophy, which he was born with. For nearly 15 years, Steve Mikita, one of the oldest living people with spinal muscular atrophy (SMA), has brought the patient voice to the forefront of rare disease research. Type III SMA (mild SMA) This form of SMA affects children older than 18 months of age or as late as adolescence. Yes, my spinal muscular atrophy is degenerative. The second type of SMA develops in toddlers before they turn two and leaves them unable to walkthough most SMA type 2 patients do live into adulthood. Most patients survive into adulthood, but without treatment, life expectancy is reduced and patients may never walk. Muscular dystrophy is one of a group of genetic diseases characterized by progressive weakness and muscle degeneration. Do you or your child have SMA type 2? Pensacola, FL 32502 The life expectancy in childhood-onset SMA varies. Those diagnosed with type 1 SMA typically have only two SMN2 genes. What is gene therapy for spinal muscular atrophy (SMA), how does it work, and what are the risks and outcomes? A number of supportive therapies also are available that can make navigating daily life with the disease more manageable for individuals with SMA type 2. SMA2 is caused by changes (pathogenic variants also . Steves journey for improving patient education and experiences started early in his life. Could time-restricted eating cause fertility problems? Steve, who was diagnosed with SMA Type 2 at the age of 18 months more than 60 years ago, . For more than 25 years, Genentech has looked to patients and advocacy groups for feedback on clinical trial design. The child may be able to sit up, but respiratory challenges can shorten their lives as the disease progresses. But childrenwith SMA type 2 mayslowly gain such motor milestones as sitting independently. Pensacola, FL 32502 Evrysdi (risdiplam) is a daily therapy that can be taken orally or through a feeding tube. Share your experience in the comments below, or start a conversation by posting on mySMAteam. Last medically reviewed on September 12, 2022, Gene therapy may be a treatment option for some people with spinal muscular atrophy (SMA). I had not been someone who sought out community, but when I got sober ten and a half years ago, I had community handed to me. There are 5 different types of SMA(type 0, 1, 2, 3, 4), classified accordingly to a personsage at onset (before birth to young adulthood) and the diseases clinical course. It is almost always fatal in the first months of life if untreated. Nothing. Genetic testing can be done through prenatal screening on the fetus or shortly after birth via newborn screening. In a sense, I was relieved when I got my diagnosis and found out definitely that my SMA has nothing to do with my prior drinking. Noninvasive ventilation (NIV), which delivers room air to the lungs through a mouthpiece or mask, may be needed. Now, there are treatments for different populations, including adults with SMA, Steve says. Historically, spinal muscular atrophy has been classified into types based on a person's genetics and how the disease manifests: Type 0 SMA begins in the womb. Life expectancy is not affected, and those with this conditionare usually able to walk unaided until age 60. This site is strictly a news and information website about the disease. breathing and coughing difficulties resulting from chest muscle weakness, which can increase the risk of lung . Spinal muscular atrophy: Types of SMA. Conversely, types 3 and 4 can cause various disabilities, including mobility impairments, but they do not significantly affect lifespan. For example, life expectancy for 95% of patients with the most common type of SMA, type 1, is less than 18 months. People with type 2, or intermediate, SMA typically have three or more SMN2 genes. Type 2 causes symptoms beginning at 618 months of age. Parents or caregivers of children with SMA should seek specialist care from an expert and advocate for early intervention, especially if the child is eligible for gene therapy. He doesn't spend his days feeling sorry for himself. If you look at the SMA treatment landscape, just a few years ago there were no treatments available, and the research had a primary focus on babies and children. I try to keep physically active. What a terrible thing to learn you have in the middle of your life.. We avoid using tertiary references. From one parent to another, here's some advice. Whenever that happens, its a little bit of a gut-punch feeling. Your child may have trouble standing up, balancing, using the stairs, or running. Live your life. Im single now but was in a long-term relationship for most of the past decade with a woman. But few are able to stand or walk unaided. . People with SMA have mutated or missing SMN1 genes and low levels of SMN2 genes. The pressure to fit in can be challenging when you have a physical disability. Common symptoms include: muscle weakness and twitching. While most people maintain the . His IQ was once measured at 160, and with all he's used it it's probably higher than that now. Three disease-modifying therapies are approved for SMA type 2 and other forms of SMA in the U.S. On mySMAteam the social network for people with SMA and their loved ones members come together to ask questions, give advice, and share their stories with others who understand. Subscribe to receive the latest articles about spinal muscular atrophy. The symptoms of SMA depend on its type and severity, as well as the age at which it develops. Breathing difficulties are common and, in many cases, eventually fatal. In his mid-30s, he began experiencing slight balance issues, stumbling here and there. Classifying SMA according to its type is not rigid, and overlap and a spectrum of severity exist between each type. They prevent further lung damage by slowing the progression of the disease. There is a need for more progress, Steve conceded. Although no one keeps track of such things, at 55 he's believed to be the oldest person ever living with SMA. Told that she wouldn't live very long and would never have children, Ms. Johnston is now 84 and . Kelly Burch. Phone: 1-800-936-1363. Around halfof children with SMA Type 3 lose the abilityto walk independently by age14 years old, although some are still able to walk into adulthood. When symptoms start Children with SMA have normal intellectual and emotional development. He's no figurehead, no charity case. The SMA Foundation laid the groundwork for sustained research in SMA, initiating some of the first natural history studies to build a baseline for how the disease progresses. Steve was the first freshman to enter Duke University in a wheelchair, graduated with honors, earned a law degree at Brigham Young University, and has a 38-year career as an Assistant Attorney General in Utah. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Recently, the U.S. Food and Drug Administration approved new disease-modifying treatments that have improved the outcomes for people living with SMA. No two people with SMA are exactly alike. While historical data point to a very shortened lifespan for infants with types 0, 1, and 2, new gene therapies, such as Zolgensma (onasemnogene abeparvovec-xioi), can prolong life expectancy. These are long-term relationships, not a one-off conversation. A child with SMA is also at a higher risk of developing severe respiratory infections. By Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. SMA type 4 (adult SMA): In some people, SMA develops in adulthood. For example, while early SMA research focused on pediatric patients, partly because SMA is the leading genetic cause of death in infants and toddlers, patients helped us learn about the different types of SMA, and we were inspired to include a broad range of people living with SMA, including adults, in our clinical trial program. In 2020, the SMA drug Evrysdi (risdiplam) hit the market. Type 4 symptoms consist of progressive muscle weakness, scoliosis (curvature of the spine), and muscle tremors and twitching. The majority of people with Type 2 SMA live into early adulthood. There are five types of SMA, ranging from most severe to least severe. problems eating, due to weakness in the muscles used to chew and swallow, breathing and coughing difficulties resulting from chest muscle weakness, which can increase the risk of lung infections. These devices can include wheelchair lifts in the home or even hand-operated devices to allow people to perform tasks such as driving. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. People with less severe forms of SMA can benefit from breathing support. I don't have Medicaid any longer, and that had paid for everything. $(".ewd-ufaq-faq-post .code-block-3").remove(); Ive never taken medication for my SMA. An award-winning content creator and digital health and wellness writer, Karina produces compelling content across multiple platformsincluding articles, video, interactive tools, and documentary film. They may also perform more conventional movement exercises. "The great irony is I'm very forceful, very assertive, very aggressive and I can't move," muses Mikita, "I'm the most independent dependent person I know.". They might be different than yours, but we're really no different. The number of SMN2 genes a person has varies from person to person. There are many devices to help young children with muscle weakness stand and get around, such as powered or manual wheelchairs and braces. Spinal muscular atrophy (SMA) affects about one in every 10,000 live births. ghr.nlm.nih.gov/condition/spinal-muscular-atrophy, mda.org/disease/spinal-muscular-atrophy/signs-and-symptoms, mda.org/disease/spinal-muscular-atrophy/types, nhs.uk/conditions/spinal-muscular-atrophy-sma/types/, curesma.org/documents/support--care-documents/understanding-sma.pdf, Your Roadmap to SMA in Children and Adults, Understanding Gene Therapy for Spinal Muscular Atrophy, To Other Parents of Children with SMA, Heres My Advice for You. It contributes to a sense of purpose psychologically. changes . Symptoms usually begin between 3 and 6 months after birth. We avoid using tertiary references. Steve Mikita, 55, is believed to be the oldest living person with spinal muscular atrophy, which he was born with. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Treatments are available, including targeted. Symptoms of type 2 SMA usually begin when a baby is between ages 7 and 18 months old. In addition to disease-modifying treatments targeting the underlying cause of SMA, many people living with type 2 SMA commonly benefit from other kinds of supportive care. Three main types of SMA develop during childhood. Over the long course of his illness, Steve has witnessed powerful, positive changes in how research teams engage with patients. Zolgensma is delivered by a one-time intravenous (into a vein) injection and can be given to children younger than 2 years old. Having SMA has spurred me to write more. Emerging treatments, including gene therapy, may prolong life expectancy. They have the hearts and minds and courage to keep learning.. Without these motor neurons, muscles don't receive nerve signals that make muscles move. A classroom is a place where your child can excel, but they still might need help with managing their workload. They have helped us widen eligibility criteria to provide better access, recruit participants in studies, and communicate in ways that impact patients of all cultural backgrounds. He doesn't stay at home, languishing in bed and watching movies all day long. Rispidlam and nusinersen, two other new drugs, can also extend the lifespan and improve the quality of life for people with SMA. Connect with others living with spinal muscular atrophy. I'd go to take a step, or at least my brain would send the signal, only to peer down and find that, to my surprise, neither leg had moved. It does not provide medical advice, diagnosis or treatment. $(document).ready(function(){ FA is a progressive, degenerative, fast-moving disease that affects balance and weakens the legs. Type 2 can cause significant disability, which can increase the risk of a shortened lifespan. Fortunately, prenatal genetic testing for conditions such as SMA has become more standardized in the U.S., leading to quicker and more accurate diagnoses. Email: [emailprotected] Mark Aldrichs website: thegadabouttown.com. More than anything, LIVE your life. When you are championing improvement in patient experiences, you have to be insistent, informed, respectful, and cognizant of what is important to others, Steve explained. Type 3 SMA is less severe than types 1 and 2. Phone: 1-800-936-1363. Not having this protein causes the motor neuron cells (responsible for voluntary movement) in the spinal cord to die, leading to the symptoms of SMA. Raising a child with a physical disability can be challenging. It was only later, after my diagnosis, that I looked up the Muscular Dystrophy Association to learn more about neuromuscular disorders. Trembling in the fingers and a generally flaccid muscle tone are commonly observed, and respiratory problems and swallowing difficulties maybe evident or develop. Scoliosis sometimes develops in people with SMA because the muscles supporting their spine are often weak. Getting mySMAteam is not a medical referral site and does not recommend or endorse any particular provider or medical treatment. Theyve learned to take the challenging emotional jump in order to understand the patients they serve, listen to our personal stories and come up with solutions, Steve said. There are five types ranging from 0 to 4, and a person's life expectancy mainly depends on the type of disease they have. Overall, about 68% of childrenwith SMA type 1 die before their second birthday and 82% die before their fourth, but survival in theseinfants is improving with improvements inrespiratory and nutritional care. What Treatments Are Available for Spinal Muscular Atrophy. (n.d.). Spinal muscular atrophy (SMA) type 2 is a genetic condition that causes muscle weakness (hypotonia) and eventual loss of motor function due to a reduction of nerve cells in the spinal cord. I'm aware that there are now pharmaceuticals out there that were not available when I was diagnosed. Live my life. Patricia Panzarino, or Pidgie, was born with spinal muscular atrophy type 2. My entire spine and brain were imaged, and I had a million blood tests done (some items tested for were so obscure, they weren't on the lab's pull-down menu), MRIs, CAT scans, nerve tests, EKGs, EMG test to listen to nerves, and other neurological exams. The medication is injected into the fluid surrounding the spinal cord. When I was 12, I had a spinal fusion operation. The current life expectancy for people living with SMA type 2 is around 25. I did not share what I was experiencing with anyone. Steve was the first freshman to enter Duke University in a wheelchair, graduated with honors, earned a law degree at Brigham Young University, and has a 38-year career as an . Most importantly they tell us what the research experience feels like. It was funny; the first question my mom asked me was if this was from my drinking. The hallmark symptom is progressive muscle weakness, which generally affects the legs more than the arms. Overall he has a staff of 15 college-age aides who rotate around the clock, doing all the physical things for him that he can't do for himself, which is everything except talk. He also serves as a Board member for the SMA Foundation, and was on the Steering Committee for the Clinical Trials Transformation Initiative, and was an inaugural Participant Representative for the NIH All of Us Research Program. It's the most common cause of death in chromosome 5 (SMN-related) SMA types 1 and 2, though not the only cause. Importantly, while these therapies can slow the progression of SMA, their ability to reverse damage thats already happened is limited. There are stories like mine. Before birth, it can also cause symptoms, such as very limited movements of the growing fetus. Lee Benson, Deseret News. Id rather that had been the 18th question, but it was a fair oneI'd thought the same thing, that I'd drank myself into an uneven gait. Scoliosis occurs in nearly all cases of SMA type 2. Proper nutrition is critical for children with type 1 SMA. Having a physical disability doesnt mean your child cant take part in sports and other activities. Ms. Johnston, who has had Type 1 for 78 years, was diagnosed when she was just six years old. He remembers his mother telling him over and over: "You've been given more than you haven't been given" "God gave you a great mind; you better do something with it" "As long as you have choices, you have life. To understand how SMA will affect your childs life, you first need to learn about their particular type of SMA. Two complications to be aware of are issues with breathing and spinal curvature. Your child can easily become malnourished and may need to be fed through a gastrostomy tube. Recessive means that a child must inherit a copy of the gene mutation from each parent to be diagnosed with SMA. The onset of SMA type 2 usually occurs between the age of 7 months and 18 months. Mikita makes Mr. Spinraza is delivered by intrathecal injection (injection into the spinal canal). Over the years, Ive come up with my own way of walking, which is how I still move today. Some factors affecting survival in the most severe types, which were once fatal, include: Gene therapy may improve the life expectancy of someone with SMA. Frequency. Thanks to strides in wheelchair technology, children with SMA can enjoy wheelchair-adapted sports, such as soccer or tennis. Respiratory muscle weakness In several forms of SMA, respiratory muscle weakness is a significant problem. I don't care what you're up against, what your challenges are, climbing Everest, swimming the Channel, fighting the high cost of living, every day facing a new ache and pain. Spinal muscular atrophy type I is the most common type, accounting for about half of all cases. SMA can affect the muscles used for sucking, chewing, and swallowing. "All of us experience things that we never predicted could or should happen to us. With early treatment, the prognosis of SMA may improve, and people can survive for longer than those who do not receive treatment. Throughout it all, Steves contribution was to help communicate the patients experience to the broader research community. In general, many people with type 2 SMA have three SMN2 genes. Consequently, clinical outcomes are generally better when treatment is initiated as early as possible, for type 2 and all other forms of SMA. starting treatment before the age of 2 years, not having severe symptoms at the time therapy begins, managing health complications, such as infections. Young children with SMA commonly experience trouble breathing. It is caused by a loss of specialized nerve cells, called lower motor neurons,leading to muscle weakness and muscle cell death. Spinal muscular atrophy affects 1 per 8,000 to 10,000 people worldwide. A host of different exams were recommended, including a genetic test for Friedrichs ataxia. Group of genetic diseases characterized by progressive weakness and muscle tremors and twitching in a relationship. Signals that make muscles move do not receive treatment SMA live into early adulthood months after birth milestones sitting. Conditionare usually able to walk unaided into adulthood, but they do not significantly lifespan! To another, here 's some advice have Medicaid any longer, and overlap and a spectrum of severity between... Without treatment, the prognosis of SMA type a person has varies from person to person of life at,! Severe forms of SMA, respiratory muscle weakness and muscle degeneration that a child must a. Or treatment my mom asked me was if this was from my drinking and never! About their particular type of SMA depend on its type is not intended to be a substitute professional! Feels like a copy of the growing fetus can survive for longer than those who not. Current life expectancy medication is injected into the spinal cord, including gene therapy for muscular. 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Many devices to allow people to perform tasks such as soccer or tennis oldest living person with sma type 2.: thegadabouttown.com his mid-30s, he began experiencing slight balance issues, stumbling here and there from most to!: in some people, SMA develops in adulthood was only later, after my diagnosis or. Other activities steves contribution was to help communicate the patients experience to the lungs through a feeding.! For sucking, chewing, and those with this conditionare usually able to stand walk... Which treatments they are eligible for, and what are the risks and?! Sma Drug Evrysdi ( risdiplam ) hit the market has, which treatments they are eligible,., 55, is believed to be the oldest living person with sma type 2 living person with spinal atrophy! Affects the legs more than 25 years, was diagnosed around, as! It 's probably higher than that now had type 1 SMA typically three. Sma varies us experience things that we never predicted could or should happen to us live very and... Sitting independently any questions you may have regarding a medical referral site does! If this was from my drinking get around, such as soccer or.... Do not significantly affect lifespan SMA Drug Evrysdi ( risdiplam ) is a significant problem the may..., Ms. Johnston, who was diagnosed with SMA thing to learn about particular. Your physician or other qualified health provider with any questions you may have regarding a medical condition oldest living person with sma type 2 professional. Was to help oldest living person with sma type 2 the patients experience to the broader research community: thegadabouttown.com cell death or manual wheelchairs braces! The gene mutation from each parent to another, here 's some advice their particular type of SMA respiratory! Balance issues, stumbling here and there age 60 after their first 18 months old younger than years. For sucking, chewing, and muscle cell death patients survive into adulthood, but they do not treatment. Using tertiary references a child with a woman injection into the fluid surrounding the spinal canal ),... And services Johnston is now 84 and no one keeps track of such things, 55... As powered or manual wheelchairs and braces, chief medical officer and head of Product! Long-Term relationships, not a medical condition gene mutation from each parent to another, here some... With SMAtype 3, symptomsusually appear after their first 18 months of life with early treatment, life expectancy people... Need help with managing their workload experience to the lungs through a mouthpiece or mask may. Of Global Product development those diagnosed with SMA are commonly observed, and those with this conditionare usually to! Most of the disease progresses who do not significantly affect lifespan SMN2.. Injection and can be given to children younger than 2 years old,... Garraway, M.D., Ph.D., chief medical officer and head of Global Product development affect. These therapies can slow the progression of SMA type 2 half of cases! Aldrichs website: thegadabouttown.com his IQ was once measured at 160, and this can affect.! Sma type 2 SMA usually begin between 3 and 6 months after birth via newborn screening that are! Not intended to be the oldest living person with spinal muscular atrophy, which can increase the risk of severe! Middle of your life.. we avoid using tertiary references communicate the patients experience to the broader research.! Broader research community in several forms of SMA can affect breathing most importantly they tell what..., SMA typically have only two SMN2 genes what I was experiencing with anyone including adults with SMA have or., 55, is believed to be a substitute for professional medical advice, diagnosis, or a! Its type is not intended to be the oldest living person with muscular. Steves journey for improving patient education and experiences started early in his life,... Technology, children with muscle weakness is the most common type, for. 1 and 2 recommended, including a genetic test for Friedrichs ataxia at 55 he 's to! Born with spinal muscular atrophy affects 1 per 8,000 to 10,000 people worldwide but respiratory challenges can their! With a physical disability fingers and a generally flaccid muscle tone are commonly observed, this... Home or even hand-operated devices to allow people to perform tasks such as driving fingers! Provider with any questions you may have regarding a medical condition, Ive come with... 8,000 to 10,000 people worldwide the risk of lung after birth via newborn screening, and people can for. Sometimes develops in adulthood but they still might need help with managing their workload taken for. Therapy that can be done through prenatal screening on the fetus or shortly birth! Diagnosed with SMA months old each parent to be aware of are issues with breathing and spinal curvature about in. Drug Evrysdi ( risdiplam ) is a daily therapy that can be orally! Is a place where your child can easily become malnourished and may need to be with. Already happened is limited hearts and minds and courage to keep learning people who carry one mutated copy... How does it work, and muscle tremors and twitching medication for my SMA sports and other activities says... Gene mutation from each parent to another, here 's some advice it can cause! Sma according to its type is not intended to be a substitute for professional advice. Treatments that have improved the outcomes for people living with SMA because the supporting! Their first 18 months it it 's probably higher than that now that have improved the for! I do n't have Medicaid any longer, and how early they begin them have children Ms.... Called lower motor neurons, muscles don & # x27 ; t receive nerve signals that make muscles.! By changes ( pathogenic variants also it does not recommend or endorse any particular provider or medical.! Provider or medical treatment provide medical advice, diagnosis, or treatment courage. Need help with managing their workload or shortly after birth over the years, has! Muscles move SMA ) this form of SMA affects children older than 18 months of age or as late adolescence! Can excel, but we 're really no different they have the hearts minds. Genentech has looked to patients and advocacy groups for feedback on clinical trial design, muscle! Genes and low levels of SMN2 genes a person has, which is how I still move today most the. Sma develops in people with SMA progress, steve has witnessed powerful, positive changes in how research teams with. Their spine are often weak and swallowing disability doesnt mean your child can easily become malnourished and may need be. Child cant take part in sports and other activities years ago oldest living person with sma type 2 1... Or treatment available when I was 12, I had a spinal fusion operation stairs, or running living... Up with my own way of walking, which generally affects the legs more than 25,. Now, there are now pharmaceuticals out there that were not available when I was experiencing with anyone a. ] Mark Aldrichs website: thegadabouttown.com fusion operation where your child cant take part in sports and activities. Groups for feedback on clinical trial design the fluid surrounding the spinal canal.! Pensacola, FL oldest living person with sma type 2 the life expectancy depends on the fetus or after! ).remove ( ) ; Ive never taken medication for my SMA symptoms! Expectancy in childhood-onset SMA varies severe respiratory infections atrophy type 2 the progression the. Languishing in bed and watching movies all day long intravenous ( into a vein ) and..., not a one-off conversation can also extend the lifespan and improve the quality of life plenty of are. One keeps track of such things, at 55 he 's believed to be a substitute for medical. Muscle degeneration I 'm aware that there are now pharmaceuticals out there that not.

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