Grace-Marie was born on November 14, 2007 a day before her dad’s birthday. It was truly amazing. Her dad and my oldest son were there to coach me on while bringing Grace-Marie into this world. She was born at 7:30 a.m. 5 lbs. 2 oz.. I was so happy to finally see her for the first time. That’s when it first started Grace’s heart beat was going really fast so they wanted to check her out really good before I could hold her. The morning turned to night and I still could not see Grace. Grace would not eat so they wanted to watch her in the NIC (Neonatal Intensive Care) over night. One day turned into seven in the NIC. Grace began to eat a little but was not very responsive to touch. She also began to not keep what she ate down, therefore she was becoming very lethargic.

No one knew what was wrong the doctors had not a clue, they kept waiting for things to change running different test and so forth. By the ninth day Grace-Marie was transfered to a new hospital the UCLA NIC unit. I continued to pray as I listened to the doctors tell me she would not move and they needed to get her somewhere, where the doctors knew more about helping Grace. Grace was not breathing on her own by this time and she stopped holding my hand.

Once at UCLA the doctors just wanted to stabilize Grace. They wanted to track down her new born screening test with the hopes of finding information to formulate a treatment plan. The trouble with that was it was a Saturday and most places were closed. Grace’s dad and I were lucky that we had a doctor on staff that could get in touch with someone to get the results. Grace condition was really bad and they were not sure if she was going to make it. Once they received the results cretin things began to get ruled out.

The doctor met with us and explained to us that Grace had a rare metabolic disorder and they were trying to narrow it between two that were in question. They wanted to start her on a dialysis right away to get the toxins out of her blood. The problem was they were not sure if it was going to work because she was so small. They took us into Grace and explained everything they were about to do. They had to place a small catheter in the side of her tiny neck. When I saw her laying there I felt so helpless and hopeless. I pulled together all the strength I had and decided that if this was the road I was dealt, I was going to have to take it and be strong for Grace.

Propionic Acidemia is what Grace was diagnosed with.

The two and half years of Grace’s life has been full of doctor appointments and emergency room visits. Some that have left me devastated. And other time the visits have adverted a crisis. These visit have given her a boost of energy so that she remains stable. Most of the time I spend praying and educating myself on the disorder.

Grace was so dehydrated one time that they could not find a vain anywhere. They had to go into a bone in her leg. da, they had to drill a hole in her leg to access the point they needed. Well it did not go so well the first drill did not work so they had to try again on her other leg. Three long hours to get an IV started. Grace was beginning to decompose more and more and slowly slipping away from us. Well we made it through with God’s Grace, that was a two week stay in the hospital.

The next month we got a permanent port placed for Grace. Grace now gets her blood drawn through her port and also all of her IV fluids when she is unstable.

Grace is on a special diet to help her remain stable and receive all of the nutrients needed to grow. Then she all of a sudden did not want to eat anymore or drink anything. The doctors decided that a G-tube was needed to help her to remain stable and to continue to grow. We still have doctor visits once a month to flush her port and every three months to discuss her growth and diet with the genetics doctor. The common cold drives us crazy and keep us on our toes.

Grace has physical therapy, speech therapy, occupational therapy, infant stimulation, and feeding therapy threw out the week which keeps me pretty busy.

Sometimes it’s really hard. Most of the time I try to be thankful for every moment with her. Grace is one of the greats joys in my life.

——————————————–

updated 8/28/18

Grace-Marie was born on November 14, 2007 a day before her dad’s birthday.

She was born at 7:30 a.m. 5 lbs. 2 oz. I was so happy to finally see her for the first time. That’s when it first started Grace’s heart beat was going really fast so they wanted to check her out really good before I could hold her. The morning turned to night and I still could not see Grace. Grace would not eat so they wanted to watch her in the NIC (Neonatal Intensive Care) over night. One day turned into seven in the NIC. Grace began to eat a little but was not very responsive to touch. She also began to not keep any milk down therefore she was becoming very lethargic. Day by day Grace was slipping away. She was transferred to UCLA where she could be cared for better. It was at UCLA that her New Born Screening revealed she had Propionic Acidemia. The doctors explained to us that it is a rare metabolic disorder.

For the first two and half years of Grace’s life was full of doctor appointments and emergency room visits. Some that left me pretty devastated, Grace received a permanent port so that she could have blood draws and kept it for the next six years. It was magical and helped out a lot whenever she was unstable, she also had a G-Tube placed so she can receive her special diet to help her remain stable and receive all of the nutrients she needs to grow. Grace is ten now almost eleven we continue to take it day by day some good and some not so. Grace continues to have physical, speech, occupational and behavioral therapy throughout the week, which keeps us busy along with a full day of school. What I have learned the most so far from this experience is to be as present as I can, that way I can learn as much as I can on this journey one day at a time.

Harul este una dintre marile bucurii din viata noastra,en

Our oldest daughter, Justine, also a healthy child had been diagnosed with the same condition 20 years earlier when she was six years old. At that time the doctors told us they believed a virus attacked her heart. They could find no other cause and said this sometimes happens. There was nothing they could do for her. The subject of transplant was brought up, but quickly dismissed. Medical technology didn’t make this a realistic option 20 years ago. Within seven months she died. We had no other children at the time, but we were assured this should not be a concern for any future children we may have.

Two years later Latreace was born, and then three years after that we had Logan. Both were healthy and routine wellness visits to their pediatrician never indicated there was any cause for concern.

This was not supposed to happen again! Why? Within the next couple weeks of April 2005 we were question by doctors trying to figure out what the connection was between Justine’s and Logan’s heart condition. We also found medical advancements had made treatment much different. Within two days, Logan was listed for a heart transplant. But his condition was deteriorating quickly and he needed to have surgery to put him on a left ventricular assist device (LVAD) to support him while he waiting for transplant. Surgery went fine, but over the next few days we realized something was wrong. Logan was in status with subclinical seizures and not waking up. He had no previous history of seizures. Now neurologists were consulted. They could not control his seizures with standard mediation techniques and as an only option decided to try putting him in a deep drug induced coma. They started sending blood, muscle, skin and spinal fluid specimens for testing to laboratories throughout the country. Our daughter, Latreace, was also tested. She was fine. Some of the initial results pointed to the direction of some type of metabolic disorder, but we were told it would take months to know exactly what we were dealing with. In the mean time, while Logan was still in a coma, genetics was called in. They recommended starting Logan on a “cocktail” of supplements that would be beneficial to someone with his suspected range of disorders. Finally after a month, something worked. Logan was awake without seizures. Now he required intense physical therapy to get his body strong enough to be re-activated for transplant. June 18, 2005 the day came. This surgery went remarkably well and a week later we received the lab results we had been waiting for: Propionic Acidemia (PA). Logan had an elevated C3 level in an acylcarnitine profile, and his urine tests showed chemicals that suggested it was PA. I had no idea what this was, but spent several weeks searching for information. Logan just didn’t seem to fit. He had never been sick as a baby or child like these other unfortunate children I was learning about. I was told Logan has a mild (tardiv) case. I felt I should be thankful, but was rather puzzled by what a “mild” case was capable of. Skin and heart muscle were sent away for enzyme analysis for propionyl CoA carboxylase that showed he has 4% enzyme activity. While his enzyme activity is low, most children that are sick as newborns have 0% activity, which is likely why he is “mild” and didn’t have any symptoms until his cardiomyopathy appeared as a teenager.

Logan left the hospital a month after his transplant and with the help of tutors was able to catch up on his studies and complete high school with his class. In many ways Logan has been a normal teenager. He does have many doctor appointments with cardiology, neurology and genetics and takes many medications and supplements, but he had been doing well. He has been attending Tech school and shared an apartment with several roommates.

Unfortunately, ianuarie 30, 2009 Logan was admitted to the hospital again. He is now dealing with severe rejection and is in need of another heart transplant and possible kidney transplant due to poor profusion. He again is being supported by a ventricular assist device (BIVAD), dialysis and a tracheotomy. He is not healthy and strong enough to be listed for re-transplant yet, but we are hoping he will be soon. Genetics continues to be consulted to determine how his metabolic disorder plays a role in his symptoms and treatments.

In the last several years our family’s DNA mutation have been tested. It was confirmed that Logan’s father and I are both carriers of PA, and our daughter Latreace is also a carrier. I am sure there are other cases like Logan’s and I often wonder if Logan’s condition could have been prevented if he was diagnosed and treated early in life. Newborn screening for propionic acidemia is now done in most states in the US, but it is unknown whether infants with mild PA will be detected and treated to prevent sudden cardiomyopathy.

Special thanks to Amy White, MS, CGC for assistance in preparing Logan’s story, and thanks to the entire talented and dedicated staff at Children’s Hospital of Wisconsin, Milwaukee.

Debra L

Logan (19) PA

On July 20, 2009, Logan received a new heart.

On August 27, 2009, Logan chose to be in a better place. His battle was long but his love for life will always persist. Logan is an inspiration to us all.

A challenging medical journey and a full loving life.

Her faith, courage and strength are an inspiration.

May her memory be eternal.

October 20, 2008-Iulie 30, 2015

Our daughter Angelica had her first ‘metabolic crisis’ at three days old. Within twenty-four hours of bringing her home from the hospital after birth, she had become so lethargic and unresponsive that we had no choice but to contact the nurse on call, who instructed us to immediately call an ambulance. The staff in the emergency room (thankfully, we live less than ten minutes away from the fantastic resources of the University of Michigan Hospital) were able to stabilize her to a degree, but were very troubled by her ammonia levels and other test results, though they did not know the cause at that time. A conclusive diagnosis of PA was reached by the following day, and after another harrowing four days in intensive care undergoing hemodialysis she was moved to a moderate care wing. We were able to return home about a week after that, once she had regained enough strength, and more importantly, her appetite.

Now she is a little over four months old, and while there have certainly been bumps in the road, it does not seem like we could have asked for a much better situation. She has an incredibly hearty appetite for her special formula (“power milk”) and is the sweetest, happiest, most easy going kid you could ever hope to see, and has even been letting her mom and dad sleep through the night, pretty much since we came home! She is tough (and stubborn) as well, having survived intensive dialysis at such a young age and showing no signs of damage from the ordeal.

The pediatric genetics staff at the UM Mott Children’s Hospital are a great resource, and having them so close at hand is an incredible luxury that we definitely don’t take for granted. We are also blessed with a very competent and understanding daycare provider–they take everything in stride, whether it is diluting formula as needed, providing medications, or even ketone testing. With everything we have at our disposal, the inevitable problems we are going to encounter do not seem nearly as daunting as they once did.

Best Regards, Joe and Toula

Iulie 24, 2001 – Aprilie 23, 2012

Nicks buoyant attitude and gentle

tenacity taught his family and friends how to love selflessly and carry on through hardships.

His example will be a guide and comfort to those grieving his loss.

He was a devoted aquarium enthusiast and played baseball with the Rivermont Dream League.

He loved the River Park, his collection of movies and books (especially Cars), horses and his dog Buster.

Click below to sign his guest book and

view more photos of Nick.

Guest Book

But after that day, my wife got nightmares nearly every night. I have to say, I began to believe the saying of mother-daughter-one-heart. After one week, we decided to do some more professional tests to confirm the situation. About one months later, all the results reflected that Cindy do have PA, which is PCCB in subtype. The result shocked us, and even the doctor. She said she never see a PA baby in such a good condition during her career. Then we began to give her special diet with XMTVI Analog formula and SigmaTau L-carnitine. In the beginning we know little about PA, so we cut off every milk including her mother’s milk. What a pity baby and stupid parent!

I want to say I am fortunate again, thanks the God. We then met a professional doctor who told us how to feed Cindy. Before that we suffered a lot, even Cindy had to be sent to PICU once when she was 1year old. After that, Cindy began to sit, walk, talk at normal age. But then, things became worse, the XMTVI Analog was forbidden to sale on Mainland China. We have to change into another formula, OA1, which is difficult to buy in China. During the period, I joined in to an PA organization in China. We talked a lot there and learned a lot from each other. There are totally about 134 parents with PA or MMAW kids. The organization is really awesome! And as you all know, as most of PA kid, now Cindy begins to dislike the formula and her food, she wants to eat meat. She is now still in the hospital for the past 20 days eating less. So I want to change her diet according to my self’s knowledge, for we cannot get more suggestions from our doctors any more. I will add more formula with little protein but high energy and other minerals.

Now I am in the USA to do a co-research program leaving my family in China. One of the reasons why I choose to come here from such a long way and in such a critical time for my family is that I want to learn something about PA here in the USA

Talli is seemingly always on the go, atunci când ea nu este ea vrea să știe care sunt planurile de după școală și în week-end. She loves to go to school and hates missing class if she is sick or has an appointment. She can’t stop talking about an upcoming trip to see her grandparents in Oregon and a sleep-away camp with the teenage girls from our Church over the summer. She loves technology, music, and live performances. We have had to put on parental controls on her tablet just like her typical peers have. She got braces on just after her birthday in the fall.

She is in the 7th grade at our local Junior High School. She is in an Instructional class for her core classes and is mainstreamed for PE, science, choir, and a period that rotates between art, technology/engineering, sewing, and cooking. This year she was on the school’s 7th grade cheerleading squad and she just excelled! She attended practice every day and then came home and practiced some more. She is very excited for next season.

Overtime, new health challenges have some up and she now has some complicated treatments. She was fortunately newborn screened; we found out a week after she was born. She was already in crisis at the time and took several weeks to stabilize her in the NICU. The biggest challenge at that time in keeping her stable was severe food allergies and reflux. She vomited every feeding! Thankfully, she has outgrown some of her food allergies, totuși, tree nuts and latex can affect her by just being around them.

She had frequent infections and was hospitalized every couple weeks when she was an infant and toddler. After starting IV immunoglobulins (IVIG), she had a significant reduction in the number of illnesses and hospitalizations. She has had sepsis several times, one of those times infecting her hip which required surgery. She has a significant Long QTc wave and had an internal defibrillator placed when she was in the 2nd grade. She also has hypothyroidism and was recently diagnosed with growth hormone deficiency, so takes daily growth hormone injections.

After many years of going to the hospital for IVIG infusions, she will be starting weekly subcutaneous at home. This will keep her better protected from infections, but also free up her (and our) schedule and cause fewer side effects. She had received IVIG at our local hospital which has a Pediatric Critical Care Unit because of poor tolerance to it.

Eating always seems to be a concern for newly diagnosed families. Talli eats inconsistently. We think that a lot of it has to do with her severe food allergies. She had a g-tube placed when she was 6 months old as she was failure to thrive. Her growth only improved once all of her allergens were removed from her diet and her esophagus was allowed to heal (she had erosive esophagitis). She eats a lot more when she can have whatever she is craving at the time (right now it is Taco Bell) and when she is around her friends. She consistently eats about a third of her calories by mouth. She is learning to weigh her food and typically does her own feedings at school, if they are needed, with her nurse supervising her. She is also learning to read labels for her allergens and protein content. Update May 2015

———————————————–

Talli is a thrilled-seeking social butterfly.

She will turn 8 years old in October and she is just finishing up the 1st grade. She is mainstreamed in our local elementary school with resource support, speech and OT. She participates in jazz and ballet and Daisy Scouts. She LOVES to build with Legos, take things apart, play with her friends, and visit Disney World. Her favorite rides are the Tower of Terror, Splash Mountain, Space Mountain and Journey to Atlantis at Sea World.

She was diagnosed with Propionic Acidemia from newborn screening, although she was well into her first crisis situation when we received the results of her testing. She spent nearly a month at CHoP to stabilize her and get her diet just right. She has had over 20 hospitalizations because of illness. For the past 3 ani, she has had received IV immuglobulins every four weeks.

She is unable to have the infusion run quickly, so she always has an overnight stay in the hospital. We attempted to have her use a port-a-cath, but after a year of no problems she had two episodes of sepsis, the last one being fungal and bacterial. She has other health challenges that have made it difficult to keep her stable all of the time and also just adds to her complexity. She has Long QT Syndrome, hypothyroidism, allergies, asthma, esophagitis, GERD, secondary immunodeficiency, and occasionally, she has neutropenia, low platelets, and anemia. She has a history of sleep apnea, is on her 4th set of ear tubes, has had her tonsils removed once and her adenoids twice.

Aprilie 2020

Viața ne-a încetinit pe măsură ce pandemia de Covid19 menține blocajul familiei noastre. Thanks God, cu toții suntem bine. În special, protejarea Zentei noastre (8,5 PA), chiar ne luăm în serios să rămânem acasă și să nu întâlnim pe nimeni. Fiii noștri studiază prin educație digitală, profesorii lor fac tot posibilul. Soțul meu a trebuit să închidă restaurantul pe care îl conducea ... acest lucru poate aduce dificultăți financiare. Este atât de greu să nu ne vedem nici părinții. Mă rog pentru tatăl meu (over 65) care lucrează ca farmacist la un spital care este folosit acum pentru a trata pacienții cu corona. Nu poate rămâne acasă fiind singurul farmacist acolo.

Cu toate acestea, există o mulțime de secrete care se lasă dezvăluite. Ce gust are o pâine preparată de sine, cât de interesant poate fi un tur cu bicicleta în curtea noastră mică, cum miroase pădurea din apropiere, și cum este fiul nostru mai mare, Paul, a reușit să-l facă pe Zente să-și bea întregul pahar cu apă pe gură - nu se întâmplă zilnic, cum este centrul 98% tube-fed. Familia noastră este recunoscătoare pentru înțelepciunea și umanitatea guvernului nostru. Ne rugăm pentru sfârșitul cât mai curând posibil al pandemiei și siguranței tuturor familiilor noastre.

Ágnes C, Hungary

———————————————————————————————————————–

Noiembrie 2019

Zente a început școala în septembrie și consideră că este plăcut, învățare este distractiv pentru el. El a ajuns să cunoască o mulțime de copii și profesori, nu numai în propria sa clasă - cum îi place chat cu oameni pe coridor sau oriunde mergem.

Îi place de echitatie bicicleta de-a lungul malului Dunării, în Leányfalu, unde traim – și păstrează-ne cere pentru a merge pentru o plimbare cu bicicleta de mai multe ori pe săptămână.

Zente a dezvoltat foarte mult în înot prea. El poate înota destul de bine acum, cu ajutorul unui consiliu de înot.

Muzică și cântând sunt încă foarte importante pentru el. El cu ușurință numele de instrumente muzicale el poate auzi într-un cântec și se poate repeta o melodie în același mod ca și a jucat doar o dată sau de două ori înainte de.

în ultimul timp, am fost îngrijorat cu privire la nivelurile de amoniac ridicate care schimba comportamentul său calm la un fel aceste perioade Wilder. El a fost internat in spital cu hiperaminiemiei această toamnă pentru o zi.

Zente este norocos să aibă un frate fantastic, care are grijă de el, îi place să joace cu el și să-l predau. Ne simțim binecuvântați să le vadă împreună și să știe cât de aproape sunt.

——————————————————————————————————————-

Aprilie 2016

Zente is turning five in June and we give thanks to God that he lives a really happy life these days. He has been fine for a long time now!

He goes to kindergarten where we live in Leányfalu, Hungary, and spends there two hours a day. Being a kind, open child, he really enjoys it! He loves people and seems to us that everyone likes him in kindergarten too. Zente loves music, can sing nicely, following the rhythm and tune very well. Playing ball is his favourite.

Since a recent dietary change with more natural protein intake and some changes in ratio, he has not been on monthly IVIG – hopefully – any more. His speech has been developing rapidly for the past few months too. He is much stronger as well and can run as fast that we sometimes have to chase him and can hardly catch him!

He goes to speech therapy, physical and occupational therapy in kindergarten. We take him to horse-riding and swimming lessons that make him smile all along.

Zente was last hospitalized for three days last October and for a two-week-long feeding therapy last December.

His friendly, happy attitude to life means a lot for our whole family.

Zente 2013

Our younger son, Zente was born on 30 June 2011. He didn’t show anything strange on his first days of life. He was a beautiful baby, nursing well, so we were let home from hospital with a slight jaundice.

His cry was unusual for us though: like the sound that a hawk gives. At home Zente slept more each day and fell asleep after a few minutes’ nursing. When he was six days old we were sent back to hospital with jaundice. One day later we got a call that Zente’s newborn screening showed something wrong and that the test should be repeated. He was diagnosed with PA. His ammonia level was elevated, his blood-sugar level too, so we ended up on the intensive care. He was in acidosis that time. He was on constant feeding tube, infusion. There were days he didn’t even open his eyes. We spent two more weeks in hospital during which Zente gradually started to nurse again, and we were let home in fine condition, with Zente eating by mouth 100% and tolerating mother’s milk so well that he didn’t need any formula at all. This big change was God’s miracle for us as an answer to our and our friends’ prayers.

We had three wonderful months back home in great health condition. When Zente was four months old, his ammonia level raised again, so we needed to reduce the mother’s milk amount and started to give formula too. At first, he was willing to drink it from a bottle, but his appetite for the formula gradually disappeared and we needed to start using ng-tube. Due to his high ammonia level we had to go back to hospital, where he started throwing up too and his appetite for mother’s milk started fading. We spent four critical months in hospital.

It was difficult to find a proper vein, then getting several central veins some of which turned out not to work. At 5 months of age Zente got a g-tube. He had painful dermatitis due to low total protein value, vomiting constantly, got a serious infection of staphylococcus aureus. He could only be fed through intestinal tube for two months.

Thanks God, he survived and his MRI showed no problem in the brain and his heart remained healthy too.

Altogether we spent seven months in hospital, needing IV at times when Zente throws up a lot. We are grateful to our doctor, the dietitians and nurses who take great care of Zente. Their work and love for Zente is God’s miracle for us.

Zente is an open child, very friendly with people, and who loves his brother.

We are lucky to have him in our family. He is a real gift.

Din prima zi de la Neuwoehner High School parea mult mai fericit,en. The school is awesome, she is able to do things that she would not have been able to do in the district high school, but is still allowed to participate in “Sparkle” a district inclusive cheerleading program after school at the public high school.

Her class consists of a total of 6 students, 2 aides and 1 teacher. The students are put in classes according to their abilities. Her new school has lots of family activities and so far 2 school dances one of which they crowned her and a few of the other new girls homecoming queen. They offer a “bootcamp” activity where the students at all levels work together to perform tasks, she loves this. Her teacher writes me notes everyday about what she does at school and sends pictures of special activities. I send her pictures of activities she has done over the weekend and they discuss them at school on Monday. She gets books and educational material to help at home. They check on her when she is sick, which may not seem like a big deal but, it really means a lot to me.

She has been there a little over 6 and a half months and just had her first IEP. They changed a majority of the things I had been asking to be changed at the middle school in her IEP before I even had to ask. The speech therapist is so amazing that after 10 years we have stopped paying out of pocket for a private speech therapist. During the IEP they brought her in and had a PowerPoint presentation, including pictures of some activities she had done. The staff went around the room and everyone said something positive about Nalani. She really loved this, and was so incredibly proud it brought tears to my eyes. For the first time in years I enjoyed her IEP and did not feel like I was going into battle, I felt more like it was a group of people that cared about Nalani working together on a plan for her.

I always hear about advocates of inclusion and being in the least restrictive environment. Someone said to me when I made the decision to pull her out of public school where she was included in general education classrooms, that she needs to know what it is like in “real life situations”. I still worry about this but, when I look at the new confidence that Nalani has I believe I have made the right choice for her. I know that each child and family has a unique set of educational needs, I just wanted to share my experience with a self-contained school, and share a photo of my homecoming queen!

Angela

Mother of

Nalani age 15 PA

Xavier age 18 months

update 3/2015

—————————————————————————-

My daughter Nalani just turned 14 years old!! Things are going great with her lately so I thought I would write an update. She is in 8th grade and loves school. Every morning she wakes up asking if she can go to school even on the weekend. Next year for high school I am planning on sending her to a self-contained high school instead of the public high school in our district. I think this will be better for her socially and she is so tiny (4ft 9in) I am worried that the high school will swallow her up.

At her school they just started a cheerleading activity that we are very excited about. Nalani is currently in a Basketball class that is run by physical therapists that she loves. She is also participating in a dance class. One of the best things we have done is the Miss Amazing Pageant-LOTS OF FUN!! She also recently received a new adaptive bike from the St. Louis Variety Children’s Charity, we are really looking forward to riding it! She has a speech therapist in the evening and a tutor.

Nalani has a speech therapist, Pam that we love! We have been seeing her for about 9 ani. She has at home tutors, Ann and Hope that have been WONDERFUL. Ann was a teacher that Nalani had in grade school. She attends our IEP’s with us and helps with what to ask and what the school should be doing. One thing I regret is that I was not more involved with Nalani in her early education. She had so many hospitalizations and medical hurdles that I was more focused on her health and not her education. I have always had therapist that come out to the house to work with us, and her teachers were great so I knew she was in good hands but, now it seems like I am struggling on how to handle things with her education.

Metabolically recently things have been so much better!!! She was running a 100+ ammonia levels for years and after changing to Peptamen Jr. her last 3 of 4 ammonia levels have been in the normal range!! This is huge for her, those ammonia levels kept me up worrying at night. Constipation has been another problem she has had. I have been doing my best to stay on top of this, because it seems like that is key to keeping her from developing ketones and vomiting. She is fed by g-tube still, she eats a little by mouth her favorites are lemon pudding, salty chips with salsa and onion rings. Echo’s have been normal and seizure free for 6 years now. She sees Orthopedics for a curve in her spine. We have chosen to put her on birth control because she had been getting very unstable at times. Allergies were also an issue. 2 years ago she got a type of sedated Lasik surgery, so she no longer wears glasses. She is just now losing the last of her baby teeth so we are going to talk to the Orthodontist about what can be done to help her speech. I think this will be our next hurdle.

Nalani is at around a 4-5 yrs old level as far as speech but, she reads at a 3-4th grade level. Math is very difficult for her she is working on using a calculator but, does not have a real concept of quantities. She LOVES to read and play on her Ipad! She is on Propimex 2, Peptamen Jr and I give her some of her protein by foods I have blended up in the Vitamix. Her meds are Phenobarbital, Citra K, Carnitine, Flagyl, Miralax, L-alanine, Valine, and Nasonex.

Nalani is a wonderful daughter, a terrific big sister and truly a remarkable person!