<div> Elena è una bellissima ragazza nata nel 2006 a Genova. Purtroppo la vita non è stata molto generosa con lei, perché è venuta al mondo con una rarissima malattia neurodegenerativa denominata NUBPL . Lei ama molto la vita e combatte da anni contro un male che le ha seriamente precluso tutte le prerogative dell'infanzia e oggi dell'adolescenza . Essendo l'unico caso in Italia, non esiste alcuna casistica, nessuna possibilità di confronto . Elena è diversa anche dagli altri 24 casi esistenti al mondo, che conosciamo grazie alla NUBPL Foundation . Un caso davvero unico,insomma! Di cosa si tratta, vi chiederete? Vi spiego con parole semplici: lei ha una mutazione nel DNA a carico di un gene che impedisce alla cellula di realizzare delle proteine necessarie alla produzione dell'energia . Questo difetto ha causato negli anni le molte patologie di cui soffre Elena. La situazione odierna è la seguente : -ritardo cognitivo -epilessia -ipotonia e ipotrofia muscolare - scarso accrescimento( per farvi capire a 15 anni pesa 15 kg ed è alta 115 cm) -perdita sali minerali al livello renale (da 13 anni le somministriamo ogni 3-4 ore i sali minerali che perde, per mantenere un livello accettabile ) -interstiziopatia polmonare ( sostanzialmente un'inspessimento delle membrane polmonari responsabili dello scambio ossigeno/CO2) -alimentazione enterale via " Jpeg" (somministrazione nutrini in orari diversi e nottetempo nell'intestino ) megacolon e diarrea cronica. Fortunatamente prova ancora soddisfazione ad alimentarsi per bocca.Purtroppo questo apporto non è sufficiente dal punto di visto calorico. A causa di queste problematiche ha un'equilibrio estremamente delicato ,in particolare dal punto di vista metabolico. Perdonateci alcune parole o concetti complicati, ma pur non essendo dottori abbiamo dovuto imparare tanto le une quanto gli altri e convivere quotidianamente con esse. E' un dolore immenso per una madre o un padre vedere un figlio spegnersi lentamente. Noi in questi 15 anni abbiamo dovuto trovare una " misura " pure a questo, per dare il meglio possibile anche ai tre fratelli di Elena. Iniziamo questa raccolta fondi allo scopo di finanziare il laboratorio di ricerca già esistente .Da due anni ci siamo affiliati all 'AMMeC( Associazione Malattie Metaboliche Congenite Rare con sede a Firenze ) e tutto il ricavato verrà devoluto al progetto IL SORRISO DI ELENA. Se vorrete ,con il vostro aiuto, potremo fare la differenza,anche donando i soldi di un caffè. Confidiamo molto nella ricerca e crediamo ,inoltre che l'unicità della nostra Elena non deve precluderle il diritto ad avvalersi di essa. Grazie a tutti!
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"Il sorriso di Elena"

<div><strong>Let's help Abed family so they can help others:</strong>
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<div>Abed family is a resilient and highly educated family, which includes an Arabic teacher, a software engineer, an Arabic-English translator, a physiotherapist, and a future doctor. Let's help them evacuate and regain stability, so they can help others!
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<div>This fundraiser is organised by Marika, a family friend, based in Austria. Our first priority was to collect funds for Mamdouh's medical studies in Egypt. Since his family could not sponsor his education any more, he risks losing his student status and eviction.
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<div><strong>Before the War:</strong>
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<div>Naseem, the father, ran a successful shop in Khan Younis, which allowed him to support his family. Reem, the mother, a trained Arabic teacher who imparted her love for learning to her children. Their children were thriving academically, with Nahariya and Lubana recently graduating with degrees in Information Engineering and English Translation, respectively. Mohammed was pursuing his passion for computer science and multimedia at Al-Azhar University, while Mamdouh got accepted to study medicine in Egypt and is on his way to becoming a doctor. Luqman and Asim attended school, and Bayna attended kindergarten.
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<div><strong>Current Situation:</strong>
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<div>The family lost their home, the shop was looted and bombarded, and they had to evacuate multiple times from Khan Younis to Rafah and back to Al Mawasi. They currently live in a tent in Al Mawasi near Khan Younis - apart from Mamdouh who is in Egypt alone, risking the dismissal from his university due to overdue tuition fees.
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<div>At the end of June, Nahariya became a mother to a beautiful baby boy, Aziz. The family faces many hardships with no income or stable place to call home. Despite these challenges, they remain hopeful and resilient. They stick together and hope for a better future.
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<div>We, kind strangers, are their hope.
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<div><strong>Meet the Abed Family</strong>
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<div><strong>Naseem (50 years old)</strong>, the father, used to run a shop in Khan Younis, which allowed him to support his family. Unfortunately, there is nothing left from this shop or their home. He has health issues like high blood pressure, a weak heart, and rheumatism. Despite his struggles, he still hopes for a better future.
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<div><strong>Reem Ahmed (43 years old) </strong>Reem, the mother, is a trained Arabic teacher, supporting her husband and children through these tough times.
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<div><strong>Nahariya (23 years old) </strong>graduated with a degree in Software Engineering and just became a mother to baby Aziz. Her husband is a physiotherapist, and together they face many challenges of parenthood in a war zone.
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<div><strong>Lobana (22 years old)</strong> has completed her bachelor degree in English Translation and wants to continue with a master. She would love to become a legal or a tourist translator.
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<div><strong>Mohammed (20 years old) </strong>completed his first year in Computer Science, specialising in Multimedia, at Al-Azhar University. His university was destroyed, and the war stopped his education, but he still hopes to continue his bachelor degree at a university abroad.
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<div><strong>Mamdouh (19 years old)</strong>, who got a high school grade of 94.4, is studying medicine at Kafr El-Sheikh University in Egypt. As the only family member in safety, he tries to support his family in Gaza to the best of his abilities. Your kind donation will help him continue his medical studies so he can become a doctor.
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<div><strong>Luqman (16 years old)</strong> should be in the 10th grade. <strong>Asim (14 years old)</strong> should be in the 7th grade. <strong>Bayna (4 years old)</strong> should be in kindergarten. However, there are no schools or kindergartens anymore. As children, they are the most fragile to what is going on, they miss learning and playing with other kids.
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<div><strong>Aziz (2 weeks old)</strong>, the newborn, is a symbol of hope. Your support will ensure he has milk and diapers for a healthy growth in the upcoming weeks.
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<div><strong>Our first immediate goal is to raise €3000 until the end of September - due to the approaching deadline for the university fees.</strong>
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<div><strong>Our goal:</strong>
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<div>Here’s how your kind donations will be used:
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<li>€1,000 for baby Aziz’s immediate and urgent needs like milk and diapers.
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<li>€6,000 to cover the next year’s university fees and accommodation for Mamdouh, who is studying to become a doctor in Egypt.
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<li>€10,000 to help sustain various family needs in the upcoming months.
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<li>€80,000 to help the family either evacuate abroad or rebuild their home as soon as possible, depending on how the situation develops.
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<div>Since Mamdouh is in Egypt, he will be the main recipient of our collections, and be responsible for distributing the funds to his family and organising their evacuation at the first possibility.
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<div><strong>How to Help:</strong>
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<li>Your donation, no matter how small, makes a big difference in making this fundraiser a success. Please donate even a small amount if you can.
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<li>Sharing is extremely important. If you cannot donate but motivate two of your friends to donate $5 each, we are already $10 closer to our goal thanks to your actions.
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<li>If you know any other ways to help (refugee programs, university transfers, or available scholarships, especially for Mamdouh, Mohammed and Lobana), please reach out.
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<div>Thank you for your kindness and generosity.
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Help Lobana's family survive & her brother become a doctor

<div>Hello, I am Amira Ahmed Al-Astal, the only daughter of the pharmacist Ahmed Youssef, a graduate of Iași University, Romania, and his elegant wife Wafa Abdel Rahim. I am married to Muhammad Atef, the love of my life, with whom I have given birth to the most beautiful daughters. The eldest, Wafaa is 5 years old, named after my mother, from my husband’s profound love for her, and the youngest, Masa, is 4 years old.
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<div>After much hesitation, I’ve decided today to share my story, which is one of the thousands of heartbreaking stories in the Gaza Strip, to help reunite my family and rebuild our lives. It is an honor for a person to walk in paths that he does not want, but this is genocide...
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<div>I never imagined in my life that I would launch a donation campaign for my mother and father’s house and their lives, as well as for my house and my life... our life full of happiness and warmth, and my family’s house, which took us many years of hard work and struggle. I lived with my mother and father in one room in my grandfather’s house for more than 12 years, and after that we were able to settle in a separate house, which I need to pay in installments from my father’s salary for 7 years. This house is the harvest. Life...the house of dreams, memories, laughter and delicious food, my father’s home garden with a large tree of distinctive oranges and a peach tree from which we fed the neighbors every year with great joy.
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<div>My mother was creative in preparing the most delicious sweet and salty recipes, and she had an aesthetic touch in everything. She would never set her eyes on anything without turning it into paradise. My mother still kept my toys and clothes from when I was a little girl in the cradle, and she used to tell me that when I got married, she would give them to my children. Every corner of the house means a lot to my mother and father. Pictures on all the walls of the house, elegant antiques, vases, flowers, and everything that a person loves to have in his home.
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<div>Last summer I decided to travel with my mother and daughters to Jordan, and after intense hesitation for days, my husband finally agreed to the trip. He is very attached to girls and hates the idea of being away from them for a long period of time. Yes, I was living my life like a princess and getting all the love and support from my parents, never refusing me any request, but never have I found anyone who was as attached to his children as my husband, and in the face of my strong desire to travel, he agreed. I have always been passionate about traveling and seeing the world outside Gaza.
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<div>On September 18, we left Gaza for Jordan with my mother and my daughters, Wafaa and Masa, to visit my mother’s family residing there. The duration of the trip was supposed to be only a month and a half... And suddenly we found ourselves on an endless trip, a trip that we did not expect... And we did not know that it would be the last time that we would see our homes how we knew it, in its beautiful appearance... I had recently painted the salon white... I was constantly going to buy the most beautiful antiques, and when I finished, I wanted everyone to visit and see the final result. I never had the opportunity to create any of these memories. I am obsessed with details and I used to keep everything, even the flowers that were given to me. I would dry them and keep them. My mother also paid attention to the smallest aesthetic details, and I inherited that interest from her.
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<div>On October 7, life was turned upside down. I began a journey of escaping death and trying to provide the minimum requirements of life. My father moved a lot from one place to another. Days at relatives’ homes, days at Nasser Hospital, days at a gas station, and now in tents.
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<div>The situation was not much different for my husband, as he stayed in our house for a period of time before I woke up on one of the nights that I will never forget, that tragic date of 11/4, when communications and the Internet were cut off from Gaza, and there was insane bombing near my house. After midnight, I felt shocked and terrified when I saw pictures of my husband among the injured on the news channels... I will never forget the horror of that time, and how many hours passed without knowing what happened to him or the type of injury he suffered. The breaking of my heart as the hours passed seemed like years, and after many hours I was reassured that he had recovered, but my heart broke when I found out our house was hit and parts of the house fell on him and could have caused his death, and although he miraculously survived, he still suffers from its effects to this day.
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<div>The following morning I found out that we had lost our house, that it had burned down from the air strike. The fire consumed my heart before it consumed my home, my memories, my details, my life, the beginning of everything... moments of joy and even sadness... our laughter and crying... and my waiting every day to hear the sound of my husband's key in the door. I waited for him many times on the stairs and balconies.
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<div>The journey of his suffering began and he moves from one place to another to escape death, in addition to his health suffering due to the house falling on him. He is still suffering, but in more difficult conditions inside the tents as he did not receive the necessary medical care.
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<div>Since that time, we haven’t had a single minute of peace or reassurance... We do not know rest or sleep... We are terrified all the time and cry…This genocide is unimaginable. We do not come out of one shock until we enter another... After a while, my father learned from a neighbor that our house had been demolished. With this news, we all fell into the well of darkness that descended on the lives of my father and mother... with their loss of the house and all of their valuable possessions... The last time my father left, he only took a few clothes with him... Even his official papers and university certificates remained at home. He did not know that when he left the house, this would be the last time he would see it... They stole from us the past, the present, all our identity, the harvest of a lifetime, and years of hard work. They also destroyed my husband's livelihood, as he worked in the car trade, and most of those cars were destroyed.
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<div>My mother was dreaming of the day she returned home, and my father was also dreaming of the moment he would return to his home after all those months of misery, death, moving, and a humiliating life... He dreamed of returning to his warm bed and to my mother’s delicious food. And to practice his daily hobby, which is reading the newspaper. Then caring for our garden and the orange and a peach trees.
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<div>We had to leave Jordan, and now we are in Egypt, living in an endless cycle of questions, fear, anxiety, and an unknown future with no option for income. We are waiting to meet my father and husband, who live in the most dangerous place on earth, Gaza... I escape from my daughters’ tears with great helplessness and from constantly asking about their father... One day in Ramadan, Wafaa refused to eat, and when I asked her why, she told me that her father did not have delicious food because of the siege, so we stood in solidarity with him. She didn't want to eat. As for Masa, her biggest dream is to embrace her father and sleep in his arms. I've never met a child who was as excited about going to nursery as she was, and this was her first year. She was very happy to finally be attending school like her big sister, but she was deprived of her right to education because of this cruel and cursed occupation, and she was also deprived of her toys and clothes.
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<div>Wafaa and Masa were prevented from hugging their father and sleeping safely near him.
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<div>I avoid going out with them sometimes so that I don't see the sadness in their eyes when they see the children with their parents and then they come home crying.
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<div>Therefore, I am working in this campaign and with your donations to evacuate my husband and father from Gaza, who are living in tents under very bad conditions, especially with my husband being injured.
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<div>Your contribution, whatever it may be, will push us towards our goal... and will re-draw a smile on the lips of Wafaa and Masa… my husband will return to the arms of my daughters... and my mother and father will meet again.
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<div>We begin the journey of a new, safer and more stable life.
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<div>Thank you from the bottom of my heart... Amira
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<div>Note: this fundraiser is for Ahmed and Wafa's family (@wafa_abd_alrrahim &amp; @amiraahmed1998) but is managed by Basheq Tarifi (@btarifi10). Please reach out if you have any questions.
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From dreams to ruins: help my family survive

<div>"We are here to tell our story... We had a life in Gaza.
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<div>I am Dr. Ibrahim Fouzi Al-Aqqad, head of the ENT department at Nasser Medical Hospital in Khan Younis, Gaza Strip, and these are my daughters, Razan and Haya.
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<div>I am Razan, 22 years old, from Gaza Strip , specifically Khan Younis. I study computer engineering, or more precisely, I was studying computer engineering at the Islamic University of Gaza. Actually, the moment of graduation and the ceremony was the biggest dream I had in my life since I was little. I reached my final year - I was close to achieving my dream. My friends Du’a, Bisan, Taqwa, Aseel, and I formed a graduation group and started preparing for our research topic. We were extremely excited and nervous as we were now closer to the moment we had been working towards for five years. We faced difficulty convincing the administration to allow us to form a group of five students as we had been friends since school and did not want to part ways. On the night of Thursday, October 5th, the university agreed to it, and the head of the department, Dr. Engineer, scheduled a meeting to start the project on Saturday, October 7th, 2023. This day was the first step towards achieving our dream. Unfortunately, we did not know it would be the end of our dream and the day everything we worked for over four years would be destroyed.
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<div>I am Haya, 19 years old, and I love studying beyond description. I competed with myself in high school to get the highest score I could achieve, and thanks to God, I scored 97%. I felt an indescribable joy as I was the reason for my family's happiness and would be able to achieve my dream of studying dentistry and working alongside my uncle Mahmoud in his clinic. I finished paying the fees and registered at Al-Azhar University, starting the first step towards my dream on September 20th. I visited the college’s private clinics and departments that were part of my dreams. After 15 days of starting my university life, I woke up to the most horrific reality I wished was a nightmare... My university disappeared from the face of the earth, completely destroyed, and my uncle, whom I dreamed of becoming his colleague, was martyred. I became alone with my dreams that seemed almost impossible.
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<div>Thanks to God and the help of family and friends, and by spending what was left of our money, we managed to leave Gaza after a long struggle. We lost our home, our clinic, and the hospital where I, Dr. Ibrahim, worked, which is now out of service. We became homeless in Egypt without shelter or source of income. We tried repeatedly to find work, but all doors were closed as we do not have residency and are not entitled to work.
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<div>I worked for more than thirty years to provide my children with all the means of life. My eldest daughter, Sarah, is a doctor, my youngest daughter, Farah, is an architectural engineer, and my daughters, Haya and Razan, were on their way to achieving their dreams. My daughters never imagined that I would have to undertake such campaigns to support their education. I was the superhero father who never stopped pushing them towards their dreams in every possible way.
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<div>We are now Dr. Ibrahim, Razan, and Haya, appealing to those who love Gaza and feel our plight. We appeal to people with a conscience to help us continue Haya and Razan’s education in computer engineering and dentistry and to provide shelter for our family of 12 members.
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<div>Help us by donating or sharing the link. Every amount, even very small, can make a difference in our future.
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<div>Thank you, and we love you because you showed interest and listened to our story."
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Shattered Dreams, Unshakeable Hope: Help Razan&Haya

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My name is Pamela Aguirre, and we are from Bakersfield, California. Our family is identified on TikTok as @HopeforNathan. Any funds raised will be used to cover all our living expenses so we can continue to care for our son, including gasoline costs for hospital visits, medical expenses not covered by insurance, and medications, among others. GoFundMe retains 2.9% of the money raised, and the rest of the funds will go directly to our family. It has been a very challenging time for us; we left our careers to care for Nathan 2018, years later, he still needs 24-hour care due to his severe reflux, vomiting, and seizures. Any help is greatly appreciated. If you can't donate, a prayer is more than enough, but if you still want to help, join our mission to raise awareness by sharing Nathan's story. Thank you.

Nathan's Diagnosis and Symptoms:
DIAGNOSIS: Cutis Laxa Type 3
MUTATION: ALDH18A1
SYMPTOMS: Growth deficiencies, intellectual disability, loose joints and skin, cataracts, corneal abnormalities, malrotation, seizures, involuntary muscle contractions, feeding difficulties, cyclic vomiting, and severe acid reflux.
OUR STORY FROM THE BEGINNING:
Baby Nathan was born at full term in October 2018, weighing just two pounds. However, before he was born, doctors had already noticed that he was small. My wife, Pamela, visited a specialist during the late second trimester of pregnancy when it was confirmed that Nathan was not growing normally. Nathan was not premature, so his size puzzled the doctors. He was in the NICU for observation for 2 months, during which genetic tests were conducted that yielded no answers. Nathan needed to gain weight to be discharged. In the following weeks, he gained three pounds and then surpassed five pounds. Nathan was finally ready to be discharged until the seizures began.</strong>
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<div><b>Nathan had to be urgently transferred to Valley Children's Hospital in Madera, but the tests there also failed to provide any answers. At that point, my wife and I were truly losing hope. We had no insight into what was happening to our baby. All we saw were cables, PICC lines, and nasogastric tubes. The best word to describe all of this is a nightmare. As parents, we began to question ourselves, succumbing to fear and anxiety. Did we do something wrong? Was it all our fault? Would our baby survive? So many questions...

The lead geneticist gave us devastating news. In all of their experience in genetics, they had never seen anything like this. They introduced us to a state-funded program called "Project Baby Bear," which conducted a new type of test called whole-genome sequencing. Thanks to this test, we received a diagnosis called Cutis Laxa Type 3 due to a de novo mutation called ALDH18A1, not inherited. Symptoms include growth deficiencies, moderate to severe intellectual disability, loose joints and skin, cataracts, corneal abnormalities, malrotation, seizures, involuntary muscle contractions that force the body into abnormal movements and positions, feeding difficulties, hernias, cyclic vomiting, and severe acid reflux.</b>
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<div><b>We are extremely grateful for having a diagnosis, but we now face a disease with no cure or treatments.We were discharged from the hospital in March 2019. Since then, our focus has been on raising awareness, reaching as many people as possible, not just to increase awareness but also to find others with this condition. So far, there are only 3 people in the world with this diagnosis.</b>
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<div><b>Any help is greatly appreciated. If you can't donate, please share our story.</b>
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<div><b>Español</b> 
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<div>Mi nombre es Pamela Aguirre y somos de Bakersfield, California. Nuestra familia se identifica en el TikTok [email redacted]a.Nathan Cualquier fondo recaudado se utilizará para cubrir todos nuestros gastos de vida para poder seguir cuidando de nuestro hijo, incluidos los gastos de gasolina para las visitas al hospital, los gastos médicos no cubiertos por el seguro y los medicamentos, entre otros. GoFundMe retiene el 2.9% del dinero recaudado, el resto de los fondos irán directamente a nuestra familia. Ha sido un momento muy difícil para nosotros, dejamos nuestras carreras para cuidar de Nathan, y un año después, aún necesitaba atención las 24 horas del día debido a su severo reflujo, vómitos y convulsiones. Cualquier ayuda es extremadamente apreciada. Si no puedes donar, una oración es más que suficiente, pero si aún quieres ayudar, únete a nuestra misión de crear conciencia compartiendo la historia de Nathan. Gracias.

Diagnóstico y los síntomas de Nathan:
DIAGNÓSTICO: Cutis Laxa Tipo 3
MUTACIÓN: ALDH18A1
SÍNTOMAS: Deficiencias de crecimiento, discapacidad intelectual, articulaciones y piel laxas, cataratas, anomalías corneales, mal rotación, convulsiones, contracciones musculares involuntarias, dificultades para comer, vómitos cíclicos y severo reflujo ácido.
NUESTRA HISTORIA DESDE EL PRINCIPIO:
Baby Nathan nació a término completo en octubre de 2018, pesando apenas dos libras, pero antes de nacer, los médicos ya habían notado que era pequeño. Mi esposa Pamela visitó a un especialista durante el final del segundo trimestre del embarazo, cuando se confirmó que Nathan no estaba creciendo normalmente, Nathan no era prematuro, por lo que su tamaño confundió a los médicos. Estuvo en la UCIN para observación durante 2 meses, durante este tiempo se realizaron pruebas genéticas que no arrojaron respuestas. Nathan necesitaba aumentar de peso para ser dado de alta. En las siguientes semanas, ganó tres libras y luego superó las cinco libras, Nathan finalmente estaba listo para ser dado de alta, hasta que comenzaron las convulsiones.<br />
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<div>Nathan tuvo que ser trasladado de urgencia al Hospital Valley Children's en Madera, pero las pruebas allí también fallaron. En ese momento, mi esposa y yo estábamos perdiendo realmente la esperanza, no obtuvimos ninguna respuesta sobre lo que le estaba pasando a nuestro bebé. Todo lo que vimos fueron tubos, líneas PICC y tubos nasogástricos. La mejor palabra para describir todo esto es pesadilla. Como padres, comenzamos a cuestionarnos a nosotros mismos, cedimos al miedo y la ansiedad, ¿hicimos algo mal? ¿Era todo nuestra culpa? ¿Sobrevivirá nuestro bebé? Tantas preguntas...
El genetista principal nos dio una triste noticia. En toda su experiencia en genética, nunca había visto algo como esto, así que nos habló sobre un programa financiado por el estado llamado "Project Baby Bear", que realizó una nueva forma de prueba llamada secuenciación del genoma completo. Gracias a esa prueba, recibimos un diagnóstico llamado Cutis Laxa Tipo 3 debido a una mutación denovo llamada ALDH18A1, no heredada. Los síntomas incluyen deficiencias de crecimiento, discapacidad intelectual de moderada a grave, articulaciones y piel laxas, cataratas, anomalías corneales, mal rotación, convulsiones, contracciones musculares involuntarias que fuerzan al cuerpo a movimientos y posiciones anormales, dificultades para comer, hernias, vómitos cíclicos y severo reflujo ácido.<br />
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<div>Estamos extremadamente agradecidos de tener un diagnóstico, pero ahora enfrentamos una enfermedad sin cura ni tratamientos. Fuimos dados de alta del hospital en marzo de 2019. Desde entonces, nos hemos centrado en crear conciencia, llegando a tantas personas como sea posible, no solo para aumentar la conciencia, sino también para encontrar a otras personas con esta enfermedad. Hasta ahora, solo hay 3 personas en el mundo con este diagnóstico.cualquier ayuda es extremadamente apreciada. Si no puedes donar, por favor comparte nuestra historia.<br />
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Help For Nathan, Ayuda Para Nathan

Allison Dye

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