![]() A Tribute to my Sister, Lori Lee 12/20/75 – 9/06/06 By Avery 09/07/06
I Saw You I saw you today in the morning dew As brilliant as a sea of shimmering diamonds I shared the most amazing sunrise with you today A million shades of red so random in their perfection I heard you today in the laugh of my children An enchanting melody a thousand angels strong I walked with you today and we talked about everything …and nothing all at once I saw you today in the changing of the leaves The colors of your life, the close of one season And the ushering in of another I sat beside a stream with you today The peaceful flow, steady and constant I saw you today…and you were perfect And rest assured…I shall see you again |
Author Archives: Angela Waits
Aoun
Aoun |
21 September 1995 – 19 marzo 2011 ![]() This is a short story of how we lost our son.
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Kate L.
Kate L. Kate was born May 25, 2007 and weighed in at a healthy 7lbs, 3oz. Kate was diagnosed with Propionic Acidemia after we received notification that her Newborn Screening result came back abnormal. We received the initial report when Kate was about 11 days old, and after additional testing we received confirmation of the PA diagnosis when Kate was 20 days old. During this time, Kate showed some symptoms of PA—such as sleeping more than typical newborns, she was losing weight and wasn’t consuming enough milk. On Wednesday June 13, 2007 Kate was admitted to the hospital and her lab work indicated that she was headed for trouble. She was moved to ICU and protein was removed from her diet. Kate received her special metabolic food and nutrition through an NG tube and we began learning more about her disorder. Kate quickly showed improvement after her diet was changed. Her blood ammonia dropped to a normal range from its high of 450. After Kate is now 13 months old. We have be extremely fortunate as she has been stable, healthy and growing since she was released from Cook Children’s Hospital last year. We work very closely with her metabolic team. Kate eats solid foods in addition to drinking her metabolic formula. She just started walking and says more than 10 words. She is currently on target in all areas developmentally. Kate is a very happy girl with a sweet and loving demeanor. As parents we are grateful for so many things. We believe that Kate’s life was saved because of Newborn Screening. If Kate had not been diagnosed early, we believe that she would have become very ill and where we lived in rural Texas was 3 hours from the specialized medical care that she would have needed. The newborn screening in Texas was expanded in early 2007 (about 6 months before Kate was born) to include Propionic Acidemia. We are eternally grateful the people that worked to get newborn screening expanded in Texas. We have a wonderful relationship with all of Kate’s doctors and medical providers. They are truly invested in Kate’s well-being. We have had unbelievable support and help from our family and friends. We have been able to network with other families that have children with PA and other metabolic disorders. These parents share information and provide support. We hope to be a support to other families in the future. Landon, Sarah and Kate Lowry Dallas, TX June 2008 |
Lea and Eva
Lea and Eva
My husband is Juan Carlos, is 35 anni. I am |
Kristin B.
Kristin B. |
Kristin, è difficile credere che sono passati quattordici anni da quando sei nato. Texas did not screen for propionic acidemia in 1999, e abbiamo scoperto che il modo duro quando eravate cinque mesi di età. La vostra prima crisi metabolica è atterrato la nostra famiglia in un pronto soccorso sul terzo compleanno di tuo fratello, ma a quel tempo i medici pensato solo avessi un virus. Dopo tre giorni di fluidi IV e glucosio ci hanno mandato a casa. Ancora non sapevo che avessi PA in quel punto e ha continuato ad alimentare ad alto contenuto proteico si Similac. Nel corso della prossima settimana hai iniziato a scendere di nuovo con una mancanza di emozioni, sguardo perso nel vuoto, e continuo vomito. Con il tempo si stavano rotolando la testa avanti e indietro il pediatra ha chiamato e ci ha detto che avevi PA. Fortunatamente il medico di ER che si esaminato aveva ordinato test di acidi organici 10 giorni prima o che ancora non avremmo saputo cosa stava accadendo a voi. Immagino che iniziato il viaggio più difficile tuo padre e ho potuto immaginare.Quando abbiamo portato a casa dall'ospedale si erano floscia, emozioni e non ha avuto la forza parte superiore del corpo. Lei aveva perso la capacità di sollevare le braccia, la testa era instabile come un neonato, e si floppato sopra in vita. La pelle era molto pallida, e il collegamento mentale che mi ero fatta con te non c'era più. Non sapevo che tu fossi più. Avevo perso mia figlia, e io non so se si sarebbe mai tornato. Questa è una cosa difficile da guardare, giorno dopo giorno. Ma nel corso del tempo, con molta pazienza, terapie e di gioco normale, sei cresciuto in una bella signora giovane che può fare un sacco di cose che inizialmente abbiamo pensato che potrebbe mai fare. Anche se non si cammina, strisciare o del ginocchio a piedi ovunque in casa, giocare con i puzzle, giocattoli e strumenti musicali, il vostro mini dispositivo di computer e di comunicazione, e ti piace cantare canzoni con nessuno. Ora avete confiscato la maggior parte dei vecchi giocattoli di tuo fratello, ei tuoi giochi più divertenti in questi giorni sono zumando camion o automobili ruote calde sul pavimento con qualcuno, o oscillare le Star Wars Light Saber intorno! I tuoi programmi preferiti continuano ad essere Clifford, Piccolo orso, Zoboomafoo e Veggie Tales. Tu ami andare fuori, andare per passeggiate nel furgone e suonare al pianoforte. Il tuo concerto DVD preferito è U2 con Bono canta Beautiful Day. Potrai stare in ginocchio davanti allo schermo con un grande sorriso sul tuo viso e poi tirare la camicia sopra la testa e cantare quando Bono entra in scena. Mamma mia, se tu fossi “normal” Potrei avere un bambino selvaggio sulle mie mani con voi trasformando in un adolescente!Nel corso degli anni la vostra dieta PA e meds sono cambiate un bel po '. Non sei più sul DDAVP ormone anti-diuretc perché abbiamo scoperto, ancora una volta nel modo più duro, che non ha avuto il diabete insipido. E 'stata una diagnosi sbagliata all'età 4 e in qualche modo per sei anni è riuscito a fare bene su un farmaco che potrebbe aver ucciso. At age 10 si iniziato ad avere crisi epilettiche e tutti erano perplessi. Non hai mai avuto crisi epilettiche in passato. Finalmente, ci siamo resi conto non ha avuto abbastanza di sodio nella dieta e, dopo alcuni test è stato stabilito i reni funzionava bene e non hai bisogno DDAVP. È veramente scioccato i medici con quello. Un medico ha detto che sei un enigma avvolto in un mistero all'interno di una scatola di puzzle! È ancora adottare una serie di integratori alimentari che sono progettati per contribuire ad alleviare lo stress ossidativo o aumentare la produzione di energia. Tesi includono vitamine del complesso B, biotina alte dosi, co Q10, la vitamina E, succinato di sodio e L-carnitina. L'utente ha inoltre la vitamina D3 e calcio in più.La vostra dieta una volta g-tube su misura che da anni comprendeva verdure Gerber, frutta e cereali è stato sostituito un paio di anni fa, con un mix formula sintetica di Propimex-2, Prosobee e Polycose. Questa dieta avrebbe dovuto semplificare le cose , ma invece ha complicato la vostra cura. Oltre a guadagnare più peso non necessari, la vostra nuova dieta ha fatto la pelle aspetto più pallido a meno che non riusciamo a farti fuori al sole molto. Eri più stabile sulla vostra vecchia dieta che conteneva un carboidrato complesso (fiocchi d'avena) che la nuova dieta che contiene Polycose o Sol Carb. Sono sicuro che il livello di glucosio è stata mantenuta a un livello più uniforme con farina d'avena di uno zucchero semplice che fa sì che il livello di glucosio a picco ogni 2 ore quando si è in bolo-FED durante il giorno. Il problema principale è che per mantenere stabile e chetone gratuito che abbiamo dovuto aggiungere più calorie di quanto vorremmo e si è ottenuto abbastanza pesante. Lei ha sempre guadagnato peso facilmente, ma questa dieta sintetico ha causato di guadagnare il più. Un altro problema che si è sviluppato più come hai ottenuto più vecchio è che qualsiasi aumento di proteine richiede un aumento di calorie o sei malato. È un po 'ironico che all'età 14 Vi capiamo molto meglio, ma che ci vuole più armeggiare con la vostra dieta per mantenere stabile. Forse questo è un compagno della pubertà?Bene, Kristin, ora sei un adolescente, e ci stiamo muovendo in un'altra scatola nera, un vero e proprio sconosciuto. Spero di continuare a rimanere stabile e felice una volta che gli ormoni davvero iniziare a ciclo. E spero di regolare bene al vostro fratello in movimento fuori dalla scuola media in un anno o giù di lì. Tu ami il tuo fratello così tanto! Quali sono i vostri papà e ho dovuto fare quando Eric non è qui per dire “nite-nite Kristin!” come il vostro segno-off per andare a letto? È già bisogno Benadryl e melatonina per dormire bene. Potremmo avere a che fare Face Time! Sogni d'oro zucca, ti vogliamo bene.No one can be prepared for the arrival of a special needs child. When you came
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Nehori
Nehori
Two mounth ago he was at E.R in ittenssive care and almost lost his life cause an unstopable vomiting that caused him obfuscation his contionce , only after helfh a litter blood, he came to his senses. Today, we are considering a liver transplant on nehori, we are not sure cause we havent heard of any child that went a liver transplant yet. Aggiornare: Può 2012 Neoray had a liver transplant on November 2011 with the recommendation of |
Allison S.
Trent M.
Trent M. |
After arriving at Kosair Children’s hospital in Louisville, KY – he was immediately put on Phenobarbital, and had an EEG, MRI, & CT scan. He had seven seizures total that day. That next day, we met an angel right here on earth. Our neurologist, Dr. Vinay Puri. Without this man, our little Trent would have not be alive today. After a couple days of constant blood work, numerous tests and a muscle biopsy, Dr. Puri told us that he believed Trent had Leigh’s Disease. The life expectancy of Leigh’s disease is 5 to 6 years. Of course, our families were devastated. We were in the hospital for eight days on our first stay, so were ready to go home and enjoy what time that we had left with Trent. We went home from the hospital with instructions to take 7 o 8 over the counter vitamins/medicines. On our first night at home, Dr. Puri called and proclaimed the good news that Trent didn’t have Leigh’s but he had PA. Knowing only that PA had to do with protein, we thought “Oh wow, we will have to buy everyone a cookbook so that we make Trent friendly dishes.” Little did we know, that PA would impact so much more than our cooking. The first month of officially knowing it was PA was rough, going for blood work every few days to check Trent’s levels. Dr. Puri, who had never heard of PA before now, was communicating with Dr. George Hoganson for guidance on how to treat it. We were put on Carnitine, Biotin & Propimex 1. We could see Trent staying awake for longer amounts of time so we knew that we were on the right track. The feedings were still a battle though after a 4 oz bottle feeding, we would hold him in our arms for an hour or more to avoid the refluxing or projectile vomiting. This went on for a few months and then in July we ended up back in the hospital because we couldn’t get him to eat. He was becoming life less again. By this time, we had been introduced to OAA. While at our July hospital stay, we urged for a g-tube & Nissan. Dr. Puri agreed that it was the right thing to do. We were in the hospital for 18 days (and we thought 8 was a lot before!). Going home with the G-tube, we were finally able to meet the real Trent. It was like a miracle. Being able to get all of his needed calories into his system, he immediately become alive. We have a photo album and it makes you so sad just to look at the photos taken of him before the g-tube was placed. The g-tube was definitely the best choice for us. There had been so many days in his first few month of life, where he didn’t even have the energy to cry even during a blood draw. So these days, his just hearing him cry was music to our ears. With PA in our life, daycare was out of the question so my husband decided to work on a second shift schedule with his hours being from 3 – 11 pm. After a few more months, I finally went back to work and my hours are from 9 – 5 pm. Since our work hours overlap, Trent’s grandmother picks Trent up each day. She will stop & pick up Trent around 2:30 in the afternoon and takes him to her house until I am off work. Our lives were getting some routine to them, not a typical family routine – but it’s ours. We had adjusted our schedules and outings to accommodate his every 3 hour tube feedings. Trent did really well for about a 4 month stretch, only requiring one quick 2 day stay in the hospital for fluids until Nov 2002. In Nov, he and I came down with a nasty stomach virus. This resulted in another 18 day hospital stay for us. Thanksgiving was nearing and we desperately wanted to be at home for the holidays. But Trent could not get rid of the diarrhea. While feeling desperate for some helpful medical advice, we got in touch with Julie Hardin in Lexington, Kentucky. She put us in touch with Dr. Rani Singh at Emory Genetics. Thru the advice of Julie & Dr. Singh, his diarrhea was finally stopped and we were released from the hospital the day before Thanksgiving. Since then, Dr. Singh follows Trent. She is another angel right here on Earth. She has helped us weather that same stomach virus since at home without a hospital stay. As the 2003 year went by, things were getting progressively better for Trent. His early intervention was in full swing with PT, OT, Nutrition Services, & Speech. Our therapists proved to be awesome. At around 10 months old he sat up alone. begin crawling at around 14 mesi & walking at 19 mesi. The speech & eating parts were (and still are) by far the hardest. Trent said his first word, “MA MA” at around 23 month of age. Knocking on wood, the Nov 2002 has been our last hospital stay. Trent is 4 years old now & still delayed in every aspect but he is making progress daily. I would compare him to a 2 ½ year old child. He is doing much better with OT & PT. His attention span is still very short and he typically wants to play things “his own way”. His speech has really picked up lately too, although some of it is still hard to understand. His vocabulary probably consists of about 50 – 75 words and lately he is really into repeating what he hears. He will sometimes put a 2 to 3 word sentence together. He has private feeding therapy every other week. At this time, he gets nothing by mouth and will only drink when forced. Currently his feedings are every 3 hours with three oz of juice given between each formula feeding. At night, he is hooked up to an overnight pump. Having a tube feeding every hour & a half can be a little time consuming but since Trent has done so well with it, we prefer to just let it be. Outings are normally planned around the feeding schedules & the weather. We aren’t giving up hope that one day when eating becomes a social issue then he will want to take part and eat by mouth. He did attend preschool two days a week last year. He had terrible attendance (he was only there for 15 days) because he was always carrying home the latest germ. His 2nd year of preschool will be starting very soon. It is so hard to “let go” & send him to school – but we know that he needs the socialization side of school. His grandmother works at the same school, so it is comforting knowing that she is always nearby. Trent loves typical kid things – singing, coloring, playing in rocks, feeding the fish at his Papa’s & Nana’s house, & riding the four wheeler with his Pap. He is such a joy to be around. He has such a happy spirit about him (that is until you pull into his doctor’s office). We hope & pray that the next few years find us having a healthy Trent who is continuing to talk up a storm & eat some by mouth. We know that God sent us a special child for a reason & even though PA causes our family stress on a daily basis, we know that God blessed us when he chose us to be the ones to take care of such a sweet little boy. Sincerely, The McKinley’s To see more pictures of Trent, check out the August 2006 notiziario. |
Aidan P.
Aidan P Miracles Still Happen – The Miracle Continues Aidan, born on March 23, 1994 Birth of an angel Miracles still happen and my son Aidan, is a living miracle by me. Aidan turned 13 this year. He is a happy, cheerful, handsome boy who was diagnosed with Propionic Acidemia when he was 3 weeks old. Aidan had a difficult birth that was further complicated with a Steph infection when he was delivered. After spending in IICU during the first two weeks, he was released to us and everything seemed normal at that time. A few days later, we noticed that he seemed lethargic and inattentive with no inclination to feed. Repeated consultation with his pediatrician went no where and we were getting increasingly concerned that Aidan was fast approaching a comatose state. An unexpected call from the University of Pittsburgh that had screened Aidan’s blood for PKU revealed very high content and we were asked to rush Aidan immediately to the Children’s Hospital in Philadelphia. Aidan was seen immediately by a team of experts led by Dr. Paige Kaplan and admitted into the IICU (again) and placed on IV. It was found that he had very high levels of ammonia in his system. After several blood /platelet transfusions and a stay in the IICU for three weeks, Aidan was declared out of immediate danger and moved to the general pediatric ward. He was held in the hospital for a few more weeks before being allowed to go home. During his first year of life, Aidan was repeatedly hospitalized several times and each time it was a traumatic experience for all of us. He had spent over seven months in the hospital during the first twelve months of his life. The second year was slightly better with hospital stays that lasted days instead of months. Tough beginnings During the first few years the going was tough on all of us. It was extremely difficult for Aidan as we observed several global delays in him and he was late in hitting every developmental milestone. He did not walk until he was three years old and was not verbal until he was six years old. Aidan had a regiment of therapies as he was growing up and even though the therapies have dwindled over the years, he still continues to receive therapy on a regular basis. To put our ordeal into perspective, I have to give a little background on our life before Aidan. My husband Ravi migrated to the US from India for his graduate studies and I followed him here after our marriage. Aidan was born exactly a year after I came to the US. The culture shock, the extreme cold weather and the loneliness of leaving my family and loved ones behind, just added to the complexity of the situation. Our life together was an emotional roller coaster and we had no family or real friends who could offer support at these difficult times. We could not partake in social gatherings since we always ended up leaving early due to Aidan’s needs and as time went by, people started leaving us alone since they did not have the emotional maturity to understand our situation and offer support or they did not want to be bothered. We had no one to turn to except each other and this brought us closer to each other since we were committed to giving our son the best life possible and I found the purpose of my life revealed. For me, Aidan was never just a child, he is an angel sent from heaven on a mission. I am not saying this because I am his mother, but because everyone who comes in contact with him says the same. There have been strangers who have walked up to me and said your child’s face is angelic. His cheerful childish ways and endurance to pain in the worst of situations and his pure love for people is a miracle by its own. Better times Aidan was 3 years old when we moved to San Jose California. After a year of difficulty finding a good team of doctors, we became members of Kaiser Permanente. He was back again with an excellent team of doctors and nutritionist. His nutritionist Elaina Jurecki however has been the lead in shaping Aidan into what he is today. Her insights, knowledge and expertise has been a godsend to us. We also became very active in a South Asian organization called Jeena. This organization is a support organization for special need kids. The organization consisted of families with kids like us who were also looking for a social network and who had faced the same level of ostracization from their social peers and who were yearning to connect and share with others in a similar situation. The challenges that we faced as a family in the social front, led me to play an active part in establishing this organization along with its founder. Having a special need child and coming from a different country/culture provided many challenges. And having no family in the country made it essential to develop a network of dependable friends who could empathize and offer both emotional and physical support at the time of need. In this process we have met many good people and made many good friends. We had found our bearings and with the passing of years we have formed stable friendships that could last a lifetime. Aidan has been attending a special education school in San Jose. He was with the same Elementary school teacher/classroom for almost 5 years. He grew very attached to his teacher and it was also very difficult for his teacher to let him go. When he graduated from the elementary school she sent him off to middle school with a brand new Mac computer, a collection of software that can last a lifetime and books on several subjects that would serve a whole classroom full of kids. He is settling down slowly in his new school and adjusting to his new teacher. His new friends have taken to him well and are very fond of him. Besides school, he goes to Score Computer Based learning center. He is very computer savvy and knows his way around with PC games and software. He loves web surfing and his current favorite is Youtube where he watches his favorite TV theme songs such as Barney, Teletubbies, Scooby-Doo, Jeopardy, Wheel Of Fortune over and over again. He also goes swimming and attends gym classes in Jeena. Aidan has a younger brother Brenden who is 9 years old and who adores him. Aidan loves having his brother around. The beginning challenges we had in devoting equal amount of attention to both kids got easier as years went by. We have now learnt to balance our time and life between the two kids and also our careers. We also have a great nanny who helps us in taking care of the kids. We are able to travel places and do things that normal children do, like visiting theme parks, going to shows, going for bike rides etc. Aidan is finally able to ride a bike after so many years. This is a specially made bike with three wheels and pedals designed for children with physical difficulties. He wears braces to provide ankle support and uses a wheel chair when we go on long walks or have to travel to unknown places. He is very interested in music and dancing. He especially enjoys Indian music. He has an incredible sense of rhythm and it amazes me when I see him move to the beat even if he cannot use his legs very well. I often catch him dancing to music in front of the mirror. He has also participated in dances and performs in Jeena’s annual day celebrations. Successful completion of a decade He continues to be a miracle since his doctors gave us a very discouraging prognosis about his survival during the initial years of his life. So when he turned 11, I decided to publish a website for him. His website has brought in many contacts internationally and helps me keep in contact with people who have children with the same disorder in the far corners of the world, where they are not blessed with the quality treatment we get here. Working towards a cure – the Fundraiser I am a professional classical dancer and coupled with Aidan’s interest in Indian music and dance along with my husband’s and parents support, I decided to start an Indian dance school. The dance school has grown today quite a bit. Aidan completed 13 years this year and that made me believe that something needed to be done to raise awareness of this very rare disorder that even sounds alien to most pediatricians and medical professionals. Awareness is essential to raise funds and a CURE is needed to help our children. And it has to happen right now so that we can see some benefit from it during our lifetime. To keep the research going, we need funds. Being involved in a non-profit organization made me realize how hard it is to get a grant approved or to get donations coming in. So this year I decided to conduct a fundraiser for PA Foundation keeping in mind all my goals in increasing awareness and raising funds. My family supported me in this effort especially my kids and my husband. Along with the students and parents of my dance school we put together a dance performance and a fundraiser on May 12th 2007. My friends helped me by putting up a silent auction and volunteering their time and energy for the several tasks involved in making the event successful. The event was a huge success. It was attended by almost 500 people. Elaina Jurecki, Aidan’s nutritionist gave a presentation for about 20 minutes on the topic of PA and why funds were necessary to conduct research looking or a cure for this rare and devastating disorder. To many of the audience it was a revelation that such a disorder existed. There was no admission ticket charge and all the funds were raised through donations and the silent auction, was donated to the PA foundation for research. People not only donated during the event, but also several days after the event had taken place. Funds close to $3500 was raised during the event which has been sent to the PA foundation. In addition to the fundraising, there was quite a bit of media coverage on the event and its cause. But I believe that this is just the beginning. With my angel at my side, I am hoping to continue to contribute in whatever small way possible to help support this miracle and keep it alive. I have faith and belief that before long we will see the day when all our children will be CURED. Yes, the miracle still lives and will continue to thrive!! Selvi Mom to Aidan and Brenden Aidan’s Story is featured in the Fall 2007 Notiziario.
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Elise
Elise |
My husband and I recently celebrated 15 years together which might not seem ![]() Our PA story began in October 2011 when our daughter Elise (1 week) was thought to potentially have an organic acid disorder based on her newborn screening. Elise was home from the hospital for one week all the while eating and sleeping great when her pediatrician indicated that her screening returned with elevated levels. My husband and I were not alarmed because her older brother Melbourne (18 mesi) had the same elevated screening when he was born and then it was deemed normal based on the repeat test. While we awaited Elise’s second set of results little Mel woke one morning not wanting to eat/drink, was moaning and running a fever. His right side arms and legs seemed to be limp. We rushed him to urgent care where they indicated that they thought he was having a stroke/seizure. Mel was transported to Children’s Hospital of WI where a number of tests, spinal tap, x-rays, and brain scans were performed on him that day. The following day we were told that they did not know what the cause was and we could go home and he would be put on anti seizure medicines. Poco prima del nostro previsto rilascio, il team di genetici che avevamo incontrato pochi giorni prima riguardo a Elise è entrato nella nostra stanza. Hanno indicato che pensavano che Mel potesse avere quello che pensavano che Elise avesse MMA o PA e che avesse sofferto di una crisi metabolica.. After about a week in the hospital the diagnosis for Mel and Elise was confirmed; they both have PA. My husband and I had suspected something was going on with little Mel’s digestive system since he had terrible constipation and vomiting episodes since he was about 9 months old; when I stopped nursing and we put him on formula/milk. For nearly 9 months before his crisis we visited with multiple pediatricians, GI specialists, and ER visits to figure out what could be wrong. No one ever mentioned PA, and dismissed my asking if the vomiting/constipation had anything to do with his newborn screenings. We often think back to the signs and symptoms such as vomiting, gaging/choking, letargo, not thriving, staring spells, wobbling, and acid breath. All'epoca questo era il nostro unico figlio e dipendevamo dagli esperti per aiutarci a capire cosa stava succedendo al nostro bambino. Sia Mel che Elise si stanno sviluppando bene; Mel is walking/running (getting into boy trouble) and starting to speak, he self-eats and drinks well. Since his crisis we have been following the PA diet very close with a Propimex mix and 15-16grams of protein/day. Elise is getting ready to crawl, she says “mama, dada, baba, and me” she is eating and drinking wonderfully a mix of Propimex/breast milk, and solid fruits and vegetables. Both children are taking Biotin, Carnatine, TriViSol, and Flagyl. Our goals are to continue to closely monitor the kid’s diet to take every precaution to keep them healthy. We are researching and considering PGD/IVF and cord blood banking in hopes that our future children will not be affected and can supply Mel and Elise with a potential cure from the cord blood. I have been in touch with newborn screening advocates to find out how we can share our newborn screening failure story with others and changes are made in the processes so other families do not have to face the challenges that we have. As I stated earlier God chose us to protect these babies and we will continue to fight for them. Elise was brought into our lives to save her brother; just days after her birth her brother started to lose his fight with PA and because of her help the doctors were able to save his life. We feel that our children will always have a close bond with each other and this will be quite the story to share with them when they are older and learn to protect one another time and time again. Aggiornare 3/2024
It has been 12 anni da quando abbiamo ricevuto la loro diagnosi, ed entrambi prosperano. Attribuisco il loro benessere a una variante decente dell'AP, vita sana e volontà di Dio. Non è popolare tra tutti, ma scegliamo di trattarli in modo più olistico attraverso integratori giornalieri (Aspirare, Olio di pesce, CoQ10, e Dose per il fegato) Entrambi assumono levocarnitina per aiutarli a purificarsi e una bassa dose di enalapril per prevenire problemi cardiaci noti nei pazienti con artrite reumatoide.. A parte questo cerchiamo di mangiare sano e di fare esercizio. In un certo senso è più facile che siano più grandi e comprendano come si sente il loro corpo quando consumano troppe proteine o se hanno il raffreddore e hanno bisogno di zuccheri extra per sentirsi meglio. In altri modi è più difficile non riuscire a controllare le porzioni e tenerli lontani da alcuni dei loro cibi preferiti. Mel è un'adolescente e sta per iniziare la scuola superiore. Ha molti amici, bretelle, un cellulare, ama le auto sportive, politica, videogiochi, ed è sempre il ragazzo divertente. Proverà qualsiasi cibo e affronterà una sfida con il cibo piccante. Inoltre, abbiamo altri due bambini fantastici che non hanno l'AP. Tuttavia hanno altre condizioni che ci tengono all’erta: Silvia (Fibrosi cistica) e Aston (Allergia alle arachidi). La nostra famiglia non permetterà mai a PA di definire chi siamo, è semplicemente qualcosa con cui abbiamo a che fare. Per adesso, sono bambini normali con uno stile di vita sano e legati per sempre da un miracolo che li ha tenuti insieme oltre le statistiche. Se c'è qualcuno che vorrebbe sapere di più su come la nostra famiglia gestisce la PA, siamo felici di condividere le nostre lezioni sulla difesa dei bambini, vita olistica, PGD IVF, Equilibrio cerebrale, o qualsiasi altra cosa: connettiamoci.
Mel & Nicole |
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