<div><strong>E N G L I S H
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

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