Carson A.

Carson A.

We adopted Carson at birth and we have been blessed ever since. He’s the most amazing little boy! Carson is so silly and makes us laugh all the time.  Carson has a 16 year old sister and a 19 month old brother. He is a very happy little boy, is extremely active and he enjoys music a lot.  It’s amazing how much rhythm he has at such a young age. We think he will probably be a famous musician some day.

 

Carson will be Three years old on June 15th 2006. He was diagnosed with PA at three weeks of age by Doctor Jose Abdenur at Children’s hospital of Orange in California. We live in Laguna Niguel, California. Carson is doing very well. He is about 9months delayed in speech and cognitive. Physically he is only a little delayed because of low muscle tone but seems to keep up pretty well.  He stopped eating around 9 months old and has been eating strictly by G-Tube ever since. He will put some food in his mouth and suck on it but never really swallows anything. He likes primarily salty things. He drinks water from a bottle and we have just graduated to a sippy cup. He currently weighs 36 lbs and is 37 in. tall. His diet consists of 126 grms. Propimex-1, and 102 grms of Similac to a total volume of 30 oz. He receives 21 oz. by bolas feed during the day and the rest at night with the pump. His medications are Carnitine-6 mls 3 xs per day, sodium benzoate-4 grms per day, Flagil-1.6 mgs 2x per day, and Prilosec 3.5 mgs 2 x’s per day. Carson receives two hours per week of OT therapy and two hours a week of speech therapy. Carson has low muscle tone, but it is not severe. We see Dr. Abdenur every two months and we have all his Aminos and Carnitine and Amonia levels checked. We work with a wonderful dietician and we change his formula according to his body weight and his labs.   We Love our Doctor and can’t imagine where we would be without his dedication and Love to Carson. We know that we are so lucky to have him.

 

We would love to communicate with anyone. Here is our e-mail.

 

Our E-Mail is [email protected]

Grace-Marie

 

Grace-Marie

At twenty eight weeks I went into pre-term labor with Grace-Marie. I was placed on bed rest and all things seemed to be going good under the circumstances. Thirty days in the hospital being monitored and watched all the way up till Grace was born. I thought once it was over all the waiting and preventions we took to keep her inside me to grow were about to pay off. I would have a healthy bouncing baby girl. It kept me going, the thought of her kept me stabile and focused while I was in the hospital away from the world.

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. Yes, 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.

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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.

Grace is one of the great joys in our life

 

Logan L

Logan L
 When my ex-husband called to tell me our son, Logan, was being transported by helicopter to Children’s Hospital of Wisconsin in Milwaukee I was in disbelief.  Logan was a normal, healthy, active 15 year old. He was a sophomore in high school, eager to get his driver’s license and training for the school tennis team. Yes, he had been sick for a couple weeks with what seemed to be an upper respiratory infection and then possibly even asthma, but when I heard he had cardiomyopathy, I couldn’t believe it. I knew all too well this was an enlarged heart.

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 (late onset) 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, on January 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.

 

Angelica S

Angelica S

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-July 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

Nicholas P

Nicholas P.

July 24, 2001 – April 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.

family stories nick

Click below to sign his guest book and

view more photos of Nick.

Guest Book

Cindy X

Family Story – Cindy X.
Propionic Acidemia Family Story Cindy XHi, everybody. My name is Tad. Firstly I should say I am fortunate. I am fortunate to get the opportunity to join the university, where I met my girlfriend, who became my wife 10 years later. I am fortunate to get my present job as a petroleum geologist after I got my PHD degree from RIPED, where I met a lot of good friends. I am fortunate to have a beautiful daughter, Cindy, in 2012. However, things changed from the day I received a call, which told me the results of my daughter’s lab test. The doctors suspected my 20-day old daughter to have PA. Looking at the cute baby, we all doubted the results. But we went to a doctor the next day, and did some normal lab tests. According to the tests result, the doctor didn’t think Cindy has PA. Then we went back home, with a burden unloaded.

 

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

Allison E

PAF Family story

Allison E. - updated 3/2015

 

I can't remember the last time I wrote an article or update about my amazing girl...I also can't remember the last time she was in the hospital before now. It is Friday, March 20th, and she was admitted the evening of the 17th. Thankfully, hospital visits are less frequent the the first few years of her life. We are here now because she has a stomach bug like the rest of the family, but couldn't get better on her own like we did. So...IV fluids (D10), Carbaglu, and "sick day" formula...

Nationwide Children's Hospital is an incredible place, with an amazing staff. Before I go on about Allison, I would like to thank some of the most special people in her life. "Daddy" Dave, who does EVERYTHING! Grandma Char, who cares for her and/or her twin brother Austin for countless hours whenever needed. Yvette Williams, her home nurse for over half her life, and full-time nurse at Nationwide Children's Hospital for 20 years this August! Dr. Bartholomew, Jimia Hoy, and everyone in the Genetics department, and all of the wonderful nurses on the 11th floor (many who have cared for Allison since she was a week old!) We love you all and couldn't do this without you!

Allison is currently in 3rd grade and is in a special needs class (another special person...Kelly Duell, intervention specialist who has taught her SO much, every year since kindergarten!) Despite her developmental delays, she is reading and writing many words, doing math on a calculator, and expressing herself more than ever! She wears DAFOs, receives physical, occupational and speech therapy weekly. She loves music (Frozen soundtrack, Laurie Berkner, and nursery rhymes, mostly), dancing, playing hide and seek, arts and crafts, swimming, and playing with her friend Gwen. There isn't much she doesn't like, all I can think of is storms, dogs (but she is getting better), and she isn't very interested in food. Primarily G-tube fed her special formula (which consists of Propimex 2, whole milk, MCT oil, water, and levocarnitine) she is only allowed 3-4 grams of protein a day by mouth. She will snack on her favorite..."white cookies" (mini vanilla Oreos introduced by Grandma Char), and occasionally have a little applesauce, juice, or taste of something (but when asked usually replies "no, I don't like that anymore").

Potty training has been one of our biggest challenges. We have tried lots of things including the potty watch, and just not using pull-ups, but underwear instead. Very messy! The combination of her diet, delays, and ulcerative colitis make it necessary for us to use chucks on her bed every night as well. I just paused and wandered off thinking about whether or not she gets teased or made fun of at school. I am back now because I don't want to think about that. I know I wasn't always a nice kid, especially when I thought someone wasn't "normal".

Our goal for Allison is to be as "normal" as possible. We would love to see her become independent, have a job she enjoys, and maybe even have a family of her own someday. Whatever she wants is our wish, and we have to help her discover what that is.

Michelle
Columbus, Ohio

P.S. (Just for fun)...I used to joke that Allison's "Make-A-Wish" was to meet Mick Jagger and the Rolling Stones. I even got her to say it a few times 🙂 We haven't applied for anything like this for her, because we really aren't sure what she would pick. I just asked asked her what she most wanted, what she wished for...she answered "I wish for Allison". I just love her! I wish for a cure for Propionic Acidemia and will continue to do my part fundraising and supporting the wonderful PA Foundation.
I wish to meet Mick Jagger, so if anyone reading this has any connections...
LOL

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Allison Lynne was born on November 29, 2005 in Columbus, Ohio.  A healthy little girl, weighing in at 6’3 oz with her twin brother Austin at 5’10oz, the future looked bright.  It was a healthy normal pregnancy.  On Allison’s 1 week birthday, we got a phone call from the pediatrician’s office that said her newborn screening was abnormal.  The few days prior, we did notice that she had been very sleepy and difficult to feed and we had a Dr. visit scheduled for later in the week.  But, when we Dr. asked us to bring her in to get more blood work done as well as a urine sample, I was feeling nervous.

After the tests, they sent us home to await the results.  On Wednesday, we called and told them that she wasn’t eating and they said to bring her into the office immediately, and once they saw her, they sent us to Children’s Hospital—this was Wednesday night.  That night she had many firsts:  including a spinal tap, IV, Oxygen, and was placed into a warmer and spent the night in the PICU.  (Pediatric Intensive Care Unit).  On Thursday December 8th, she was diagnosed with Propionic Acidemia.  She spent her first week in the hospital and came home with a new diet of Propimex 1, Similac, Biotin, and L-carnitine.  Allison did well until her next hospital stay 4 ½ months later in May.  Her acid reflux was the reason for this visit.  After receiving Prevacid and Reglan she was back home.   She still was not eating really well and in October she got a feeding tube to assist her in getting all of her nutrients.

Later- her white blood count showed up low and after consulting with an immunologist, she was diagnosed with an IGG deficiency.  She received infusions in August, September, and October.  Her blood was checked in December and her IGG levels came up and consequently has not had an infusion since.  Allison’s development has been supplemented with Physical and Occupational Therapy and focusing on her Gross Motor Development.  Allison was saying a few words, clapping her hands, and getting very close to walking, when she developed a virus.  This sent her back to the Emergency Room on Monday January 15th, 2007, with symptoms of vomiting and showing Ketones in her urine.  After a day of testing, including a MRI, Spinal Tap, C-Scan, EEG, and Chest X-ray and another night in the ICU, she was diagnosed with a virus.  They think a virus caused metabolic crisis (due to her Propionic Acidemia), and resulted in swelling of the brain. A neurologist said she had “chorea” which was “secondary to swelling of the basil ganglia.”  Her EEG showed decreased brain activity and her MRI showed the swelling or “lesions” as the neurologist referred to them. She is home now, but not herself (not taking food or bottle, not sitting up, not holding toys, not talking…) They told us it could take weeks or months to tell if damage is permanent, but that the swelling and chorea should go away.

Evan

Evan M.  – updated March 2015

Evan is now 8 years old. He had a partial liver transplant in March 2012. Whilst the 1st years was very tough, unfortunately he was diagnosed 6 months after transplant with Lymphproliferative Disease. A type of Lymphoma brought on by the immunosuppressants needed to stop his body from rejecting his new liver. He needed a few months of chemotherapy but thankfully got the all clear from this a few months later. Since this however, Evan has come along so so much.

The transplant wasnt a ‘cure’ but is a huge help in managing Evan’s condition and giving the best chance at living a normal life. He can tolerate alot more protein which in turn helps his development and generally makes him look healthier. He is in his 2nd year in the local special needs school and he absolutely loves it. He runs out to the bus in the morning and always has a smile on his face wen he gets off the bus when he gets home! He loves the attention and being with others his own age. His speech and communication is coming along although we still can’t converse with him and his eating is steadily improving. Although foods still have to be pureed, he is open to trying new things and experimenting and playing with food whereas before he showed absolutely no interest in food and mealtimes.

He is still tube fed most of the time via a mic-key button in his stomach. His feed consists of Energivits, Nutrini and MMA/PA Gel and all medications we give to him via this tube. So even though he still picks up every bug and infection going and does have long bouts out of school and the odd admission to our local hospital the future is looking bright for Evan. There is no doubt life is tough living with PA, we do our best by our children.

Not everyone agrees with our decision to go for a Liver Transplant but even though the 1st year was tough we don’t regret our decision. Our thinking was that if something happened during or after the transplant at least we are doing everything possible and in our power to give our child the best chance possible to have a normal life. Life with PA is so unpredictable.

Sarah (Evans mam)

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Evan is 4 and he was diagnosed with Propionic Acidemia when he was four days old. normal pregnancy,  normal delivery and evan arrived a healthy 7lbs 11ounces three days early.  On day 3 he was getting very lethargic, he wasnt feeding and was breathing funny from his nose, like he had a cold.  He was brought to the Special Care Unit by a nurse and we were told he would be back up soon so we presumed it was just to be checked out. An hour later, he was on a ventilator as doctors were afraid he would stop breathing.  A number of tests were done and doctors in Cork narrowed it down to a Metabolic Disorder but they were not the experts in this field, The Metabolic Center of Ireland is in Dublin so Evan was transferred up when he was 3 days old where they diagnosed him the day after.  Evan was in the hospital for 3 months until well enough to return home.  Since then he has been admitted to the local hospital a handful of times, for flus, bugs and infections but thankfully since birth he has had no major decompensation.  He has a good enough appetite and drinks his XMTVI Maxamaid orally during the day and eats about 6 of his restricted 8 exchanges of protein orally, however, anything he does eat has to be liquidised with no lumps whatsoever.  He also has a continued feed during the night through PEG Tube. We travel to his doctor in  Dublin every 3 months for check ups, where they take blood and check his levels are normal, and we speak to dieticians etc.  Evan is a wonderful, happy, sociable, and boisterous 4 year old , he struggles with speech and communication which can get him frustrated and he has regular speech therapy, physio and occupational therapy.  Evan has been on a waiting list for an Auxiliary Liver Transplant for 7 months now.

Talli

Talli S. (Born on October 4th, 2001 Passed on February 17th, 2019)
Tallina Renee "Talli" Smith
Talli gracefully and fiercely endured the terrible nastiness of Propionic Acidemia; she departed this life with a sepsis scorecard of Talli 5 and sepsis 1.  
 
She only encountered two bowls of nacho cheese sauce that she did not love; frequently devoured Scooby-Doo fruit snacks, except the orange ones; and was determined to be independent and do things in her way and order, unless she wanted you to be her servant.  She could build a Lego tower of questionable stability far larger than her 4’8″ self.  Male teens athletes from her Church, were in awe of her endurance and strength in keeping up with them while pushing a handcart for miles in a Mormon Trail reenactment.  She hated to miss Church services at the Naperville 3rd ward of The Church of Jesus Christ of Latter-day Saints, even if she was hospitalized or vomiting and would tell anyone who would listen to “watch Veggie Tales to learn a lesson”.
 
She was highly anticipating her senior year next year at Naperville Central High and she felt she was one of the star athletes of Special Olympics, Team Fire 203 in basketball, bowling, and track.  She loved meeting others who have PA; whether it was at a PAF meeting or traveling the country and stopping by to see them at their homes.  She had numerous complications from PA including loosing most of her vision and had a compromised immune system; however, she kept a positive attitude and dealt with her challenges with resolve.

Talli

Talli is seemingly always on the go, when she isn’t she wants to know what the plans are for after school and the weekend. 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, however, 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

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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 years, 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.

Zente C.

 

Zente’s Story
April 2020

Life has slowed us down as the pandemic of Covid19 keeps our family lockdown. Thanks God, we are all fine. Particularly, protecting our Zente (8,5 PA), we really take it seriously to stay home and not to meet anyone. Our sons are studying through digital education, their teachers are doing their best.  My husband had to close the restaurant he had been running…this may bring financial difficulties. It is so hard not seeing our parents either. I’m praying for my father (over 65) who is working as a pharmacist at a hospital that is being used now to treat corona patients. He cannot stay home being the only pharmacist there.

There are a lot of secrets that let themselves be revealed though. What a self-made bread tastes like, how exciting a bike tour in our small backyard can be, how the forest nearby smells, and how our older son, Pál, managed to make Zente drink his whole glass of water by mouth – it does not happen everyday, as Zente is 98% tube-fed.  Our family is grateful for our government’s wisdom and humanity. We are praying for the soonest possible end of the pandemic and the safety of all our families.

Ágnes C, Hungary

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November 2019

Zente started school in September and finds it enjoyable, learning there is fun for him. He got to know a lot of kids and teachers, not merely in his own class – as he likes chatting with people in the corridor or anywhere we go.

 He loves riding his bike along the river bank of the Danube in Leányfalu, where we live  – and keeps asking us to go for a bike ride several times a week. 

Zente has developed a lot in swimming too. He can swim quite well now with the help of a swimming board.

Music and singing are still very important for him. He easily names the musical instruments he can hear in a song and can repeat a tune the same way as played only once or twice before.

Lately, we have been worried about his elevated ammonia levels that change his calm behaviour to a wilder kind those periods. He was hospitalized with hyperammonemia this autumn for a day.

Zente is lucky to have a fantastic brother who takes care of him, loves playing with him and teaching him. We feel blessed to see them together and to know how close they are.

 

 

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April 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.

PAF Family Stories Page - Zente

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.