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.

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.

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.

From the first day at Neuwoehner High School she seemed a lot happier. 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

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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 years. 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!

Hello PA parents:

My husband and I had the liberty of raising our PA son Vincent for 11 wonderful years. Vincent was diagnosed at 1 month old and as he grew older he always had a wonderful outlook in life. It will be 2 years since we lost him and of course miss him terribly. We wanted to do something special in memory of Vincent so we held a fundraiser at the Nassau Coliseum during an arena football game. The night was a success and we raised $4,000.00 towards the Propionic Acidemia Foundation.

May God Bless our children and parents.

Sincerely,
Camille,Vinny and Marisa
North Babylon,NY
[email protected]

Ryan came home from school one day and asked if he could bring a fundraising can to school to raise money to find a cure for his brother, Jordan.    He helped design the label.   Ryan was so impressed with the generosity of his friends.  His friend, Santi, asked to take the can home and have his parents bring it to work.

Ryan and his friends have raised over $85.00 to find a cure for propionic acidemia.   Keep up the good work!!!

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