Maren S.

Hi, I am Honey.  My husband is Scott.  We have a 6 year old son, Lyric, and a new baby girl, Maren.  Maren was born on February 13, 2012.  She weighed 8 pounds and 6 1/2 ounces.  Twelve days after having taken Maren home, on a Saturday, and while at our son’s friend’s birthday party, we received an urgent call from a doctor asking about Maren’s wellbeing.  We then learned she had an abnormal result on a newborn screening, elevated C3, which could indicate a metabolic disorder.  A couple of days later, we received a call from a genetic counselor from Denver Children’s Hospital who informed us that Maren was diagnosed with Propionic Acidemia.  Maren shows no signs of her illness.  She did not “crash” in the hospital and has not since.  She is a month old now.  Maren’s little body was fed for almost 15 days a typical newborn diet of breast milk and formula.  She had no abnormalities in her urine while having this.  We feel so lucky she was able to hold her own.  She now has a team of doctors and a special formula that includes carnitine as well.  Needless to say, as a family, we are devastated.  We are slowly coming to grips with our new reality.  She is a precious little girl and naturally we fear what’s to come.  We are still learning about PA.  Looking at Maren one would never guess what’s going on in her fragile little body.  She appears to be just fine.  As many other “seasoned” PA parents probably understand, we are in a pretty dark place having just been dealt this blow.  We are scared, overwhelmed and shocked slowly making our way towards acceptance and looking for the strength to persevere and smile while doing it.  It feels like an impossibilty right now.  We are new to this community.  We are willing to share our story and to hear from others.

Update: 5/2012

Maren is now almost 3 months old.  So far, so good is what I have to report.  Maren has been doing wonderfully.  We have made friends in other PA families since her diagnosis which has proven to be a blessing.  Recently Maren had a diet change which included adding a large amount of protein back into her baby formula.  This was scary, but everything is okay so far.  Labs showed that Maren was severely low in 2 amino acids and just fine with the other 2.  We struggle with her lab draws since she is so little and finding a vein seems to be quite a challenge.  We have learned as a family and through the support of others to take each day as it comes.  Learning to keep our fear in check is an ongoing lesson though.  Doctors suspect that Maren has a “mild” form of PA.  But, that is always prefaced with “only time will tell.”  Maren is a sweet, happy, and strong baby!

Jenna Lynn D.

Jenna attends MacKenzie Elementary school, Grade 6 in an inclusion class. She is on a modified program, but is included in the classroom activities. She participates in science projects, class presentations and is not afraid to speak in front of the class. Jenna has learned to write (with adult prompting the letters) and is still struggling with reading.  She had a socio-educational assessment that showed she is weak in both long and short-term memory functions, which explains why she struggles with academics. On the positive side, Jenna is very good at reasoning. If I ask her to play with her brother, she will give plenty of excuses to avoid it. A parent would normally complain of this behaviour, but we are thrilled that our daughter has the mental capacity to make an excuse.

Metabolically (and medically), Jenna has been fairly stable (touch wood). She is on high dosage of Carnitine, which gives her a “fishy” odour. She is showing interest in some foods such as hash browns, jell-o or strawberries; so we encourage it, although she only takes very little by mouth. She is still predominantly g-tube fed throughout the day (bolus fed during the day and continuous feeding at night). She recently stopped wearing diapers at night!  We are working on her self-help skills and she is very eager to learn. Last year, she was started on the daily injection of Nutropin for growth hormone therapy as she is quite short (less than 5th percentile for her age). We are hoping that the growth hormone will help with her height, as well as increase her low-muscle tone.

Jenna is 11 years old, but is developmentally at age 6 or 7. She is the oldest child of 4 and has filled her role of big sister very well. She is polite, obedient, kind-hearted and an absolute delight to talk to.  She is growing up so fast and developing into such a beautiful girl; we couldn’t be more proud of her accomplishments.  In retrospect, we were given a very bleak future with our special needs daughter, but she has exceeded everyone’s expectations and continues to surprise us all with her amazing personality.

update 9/1/2018

Jenna is now an adult.  She is turning 20 on November 18th!  She graduated high-school life skills and is transitioned to a program called Gateway To Adulthood (GTA). Jenna’s metabolic status has been stable.  However, last year when Jenna turned 19 she suddenly had her first seizure.  It was a scary time for us as we didn’t understand why she developed epilepsy. It was happening often. With a metabolic crisis, we knew our protocol.  Yet, with seizures we had to be alert and constantly in Jenna’s presence, as it could happen at any time.

As with any “normal” teen, Jenna is longing for her independence and seeks the love of a boy. She admits to being a romantic and wants her prince charming to come one day and sweep her off her feet!  Jenna is quite the fashionista, too. She wants to (one day) start her own clothing line that she designed. In her free time, she likes to create stories: Love stories, to be exact. She will ask her friends to act out her story. Like a boss director, Jenna knows what she wants and tells everyone their rolls! We are extremely proud of our daughter.  Once a baby we thought we would not see to live past age of 3, is now a thriving adult and living a beautiful life.

Jordan F. (Born on January 28th, 2000 Passed on June 26th, 2016)

It is with deep sadness that we share the passing of our beloved son, Jordan. Words cannot express the unbearable loss we feel and we are so thankful to all of our family and friends for being supportive during this difficult time. We have heard stories about Jordan from everyone he touched and received letters from peers that were out of town talking about how he taught them about unconditional love and how he changed their lives. In Jordan’s short 16 years, Jordan impacted more people than most of us do in a lifetime. Jordan loved playing soccer, boxing, basketball, bowling and kickball with his buddies. Jordan loved his electronics and if possible would have an ipod, an ipad, a kindle and the tv on at the same time. Jordan also loved having family and friends sing “on demand” his favorite songs. Perhaps, most of all, I will miss hugs and cuddling.

Jordan was a warrior in every sense. Jordan fought his illness until he could fight no more. He taught all of us so much. Jordan will always be in our hearts, our minds, and our souls.

Jordan inspired me to start PAF to find better treatments and a cure. In lieu of flowers, we have requested donations to Propionic Acidemia Foundation to continue the fight. Feel free to contact us any time – Love, Jill, Steve and Ryan

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Wow, time flies.  Jordan is 16 years old.   He is a sophomore in high school.  Last spring he was hospitalized twice – once with pancreatitis and once for unknown stomach issue,  but other than that has been doing well.   He has a communication device called a NovaChat 7 which he is learning to use.  He often says “I feel happy.”  with his device.  He continues to make slow progress with vocalizations and word approximations and can identify number 1-50 and is learning how to read.  Jordan’s favorite activities involve “buddies” (typically developing peers) and he enjoys soccer, boxing, and kickball in addition to his high school buddies program.  He has a 1:1 nurse and aide at school.

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Jordan is now 12 1/2 years old.  He is in 7th grade at our local middle school.  He uses a Dynavox V to help him communicate and is starting to use some word approximations.

He loves his Ipad – especially golf, bowling and Netflix.   Jordan participates in extracurricular activities including bowling, kickboxing, soccer and music.   He is a very happy child.    He is now singing along to Cyberchase – his new favorite (yes, he still likes Barney, Blues Clues, Dragon Tales and Arthur).    – 9/2012

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Hi!

My brother, Jordan, is 9 years old and has early onset Propionic Acidemia.   We live in Highland Park, Illinois. He likes to play chase with me, play with his Video Now Jr. and swing on the swing in our basement.   Jordan doesn’t know how to talk yet and I worry about what kind of job he will be able to get when he grows up.    He uses a computer with a touch screen to communicate.

Jordan is in 3rd grade and goes to a special education school.   I wish he was at school with me, but our school doesn’t have a special education classroom for Jordan.     I also worry about where Jordan is going to live when he grows up, but my mom assures me that he will have choices.  I love my brother very much and when I grow up I will try and help find a cure.   I am 12 and would love to talk with other kids that have sisters or brothers with PA.

Written by Ryan, Jordan’s big brother

Kirstyn T – updated 3/2016

Hello PA friends!! It has been a long while since we have talked to many of you!! It is so glad to be back in touch by sharing Kirstyn’s updated story! For those of you who don’t know us… I will start from the beginning. Kirstyn Paige  was born on August 17, 2004 and after ten years of infertility and an uneventful pregnancy she had finally arrived. When she was born she started showing signs of Jaundice and our pediatrician decided to perform some blood work. It came back with the results of ABO Incompatibility and she needed to be transported an hour north of our hometown to Shands at the University of Florida for triple photo-therapy. It also happens to be my Alma Mater…so…GO GATORS!!!! (I had to throw that in there!.) Of course we were worried sick about this diagnosis but we had no clue what was on the horizon. While Kirstyn was in the newborn nursery at Shands she responded well to the jaundice treatment , but she started having some other issues. At six days old she became almost lethargic and refused to nurse and seemed to even have a hard time opening her eyes. I became upset and asked the nurse to call a doctor to check her over. He became concerned over her labored breathing and decided that she needed to be admitted to the NICU for further evaluation and testing. As the day went on her condition deteriorated and she actually stopped breathing. Thankfully she was in the hospital and received very quick medical care. Her ammonia had risen to over 700 and she was acidotic. She was on dialysis, intubated and the medical staff expressed their concern that she may not live through the night. She was only seven days old. We were absolutely devastated!!

A doctor by the name of Dr. Bernstein was on duty in the NICU and he had some limited experience with metabolic diseases. He immediately called in the Genetics team and after a few days we had the confirmed diagnosis of Propionic Acidemia. She spent nine and 1/2 weeks in the NICU and finally got the discharge orders we had been waiting on! Fast forward………………………..

Kirstyn is an amazing eleven year old that started middle school this past year. People are so right when they tell you not to blink! How did my baby become old enough to start middle school? She has had about fourteen subsequent hospitalizations over the years and thankfully has not had an admittance for about eighteen months now!! She is still treated at Shands and has also developed Cardiomyopathy and borderline long QT. Her doctors are amazing and this medical team has stood by our side her entire life!! She has a gtube that was inserted at three weeks old and this decision has saved us numerous trips to the hospital. Kirstyn also eats by mouth and on most days consumes 100 percent of her food by mouth. Her tastes change quite often and her favorite foods of one week will not be her favorite foods of the next week. Sigh……… She loves chocolate, french fries, Doritos, Spaghetti, sweet tea and McDonalds pancakes lota of syrup and hash browns. We are on a very friendly first name basis with our local McDonalds staff. 🙂

Kirstyn actually has a gifted IQ and while she has the ability to excel in school, it does not always turn out that way due to her moderate diagnosis of ADHD. She is able to take a non stimulant medication to treat her ADHD but the doctor will not authorize any stimulant medications due to her heart issues. Some days the behavior is a real struggle , but she never ceases to amaze us with her charm, wit and sense of humor!

Kirstyn is quite the artist and has actually started an art portfolio of her drawings and paintings. She has taken private art lessons and this is her passion. She also practices archery with her dad and enjoys shooting her bow and fishing. She also enjoys antagonizing her younger brother, Cason who is nine years old and unaffected from PA. Last year, we were given the honor of becoming an ambassador for Children’s Miracle Network Shands Hospital at UF. She has the incredible opportunity to join kids with other disabilities and I get the honor of sharing her story and bringing awareness to Propionic Acidemia and other metabolic conditions.

We live about an hour and half away from Disney and have had the fun pleasure of meeting up with some other PA families when they have been on vacation. So, if you are ever in our neck of the woods, please contact us and see if we can meet you too!!

I have made lifelong friends from some of the other PA parents and their experiences have helped us navigate these difficult waters of Propionic Acidemia. As my years of experience continues to grow my hope is that I can hep other parents as well. Much love from the  Ronnie, Marsha, Kirstyn and Cason.

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Kirstyn T.

After ten years of infertility issues, Kirstyn was on her way!  She turned 4 on Saturday Aug 17 & mom said her birthday was bittersweet as it is every year.  Like so many PA families, her parents were told in the first week that their daughter would likely not live through her initial crisis.  When Kirstyn was born she had ABO incompatibility which is basically severe jaundice, so she was transported to Shands NICU to get her liver to kick in.  The first 7 days there, Kirstyn became very lethargic & stopped eating.  One of the nurses even scolded mom saying she couldn’t take her child home until she proved she could feed her.  The next day Kirstyn crashed, falling into a coma.  Ammonia was over 700 & she spent 9 weeks in that NICU, during which time she had a core team of nurses assigned to her because of her rare condition & bleak prognosis.

After that, she went the entire first year without further need for hospitalization, but has had 4 since then.  She’s had three blood transfusions of packed red cells.  She was diagnosed with mild cardiomyopathy at 18 months, so she has an EKG & EEG every 6 months.  Stomach bugs are the hardest thing, causing 2 hospitalizations due to excessive vomiting, ketones & high ammonia.  December 2005 she spent 2 days in the hospital for a terrible ear infection that was first misdiagnosed as seizures because she was vomiting then zoning out.  March 2006 she was in overnight for a respiratory infection & high ammonia.  Her mom said “Kirstyn gets sick really quickly!  Once she reaches moderate ketones, she will need to go straight to the hospital or her body will begin rapid decompensation.”

Kirstyn had OT & PT her first 3 years through an Early Intervention program.  At the age of 3 she broke her collar bone in school because she didn’t reach to catch herself during a fall due to her low muscle tone.  She’s clumsy when she walks, but has always been very active.  Her mom said “If she gets red faced, we have to give her extra calories or she will spill ketones within an hour of hard play.  We learned that the hard way during her 3rd birthday party at the park.”

Last year at age 3, test results showed Kirstyn had reading & comprehension skills of a 6 year old, & counting & number abilities of a 5 year old.  She’s going into her 2nd year of pre-k, geared toward medically impaired children with no cognitive delays.  She’s quite bold & independent & it’s very difficult to keep her on a task she doesn’t want to do.  She loves to sing, draw, & paint.  She has very low muscle tone in her hands, so she really resists anything that involves use of hands, like using scissors.  Due to her low muscle tone, Kirstyn still receives PT through school. She has a lot of behavioral issues & doesn’t like to listen.  Her school has recently considered testing her for ADHD, even though they’re also considering testing her for the gifted program.

She’s just started her first activity, tap dancing & loves it!  Recently Kirstyn learned to ride a bicycle with training wheels, which she got for her birthday.  Playing on the computer is one of her favorite past times.  She doesn’t like her little brother Cason (20 months), & often asks her mom to “Please send him back to the Little Brother Store.”  She picks out all of her own clothes & doesn’t care what people think : )  And, she loves to do housework.

Kirstyn eats 100% by mouth except when she’s sick.  With a packed lunch from her mom, she eats so much better to at school with friends around.  Her mom said “We always know when she’s getting sick because her first symptoms are always spilling ketones and she stops eating.  For this reason she has a g-tube“.   Like many young children, she has a weird diet consisting largely of french fries, pancakes, hash browns & loves to eat at McDonalds & Bob Evans!  Her mom said she likes ketchup on mini frozen waffles & calls them mini pizzas & would eat ketchup on everything (anything mom lets her put it on!)  She doesn’t care much for sweets, only an occasional M&M.  At parties she’ll tend to lick a bit of icing to feel like part of the group.

As far as potential complications from PA, she’s doing amazingly well.  As of this year her doctors said she only needs labs 4 times per year!  Her restricted amino acids typically run around the low end of normal, & she’s given a Valine supplement because it’s always run below normal.  Her Glycine is typically around 800.

Marsha, Kirstyn’s mom, expressed her sincere appreciation for the support she’s received from the other PA families through PAF, saying “We’ve been blessed to be part of this support community, which I’ve turned to for help on many occasions.”  She said they’ve even met a few other PA families because they live so close to Walt Disney World, so look her up if you’re planning a trip!

On behalf of Marsha, Ronnie, Kirstyn, & Cason

Brandon N.

Our son Brandon started showing symptoms of his illness within

the 1st day of his birth (7-9-98).  To make a long story short, he was finally diagnosed at 5 days old at Riley Children’s Hospital in Indianapolis, Indiana.  We have a really great group of people who manage Brandon that include Dr.s Wappner and Hainline and a great dietician Becky who I consider my friend.  Without them I really don’t know where Brandon would be today.

Brandon has a g-tube and gets almost all of his nutrition through his tube.  He does eat by mouth and that mostly consists of Quakes (ranch flavored), and puffed popped corn.  Brandon also likes sauces and will usually try anything like that.  Now that is enough about the medical stuff.

Let me really tell you about my son Brandon.  He is 6 (almost 7).  He will be entering 1st grade in a special education class.  He has conquered his ABC’s and will soon have his numbers 1-10 down.  Brandon loves to play outside and really enjoys being around other kids.  He swims with Special Olympics, plays baseball on a Challenger league and can ride his bike with training wheels.  Brandon has shown great promise with his vocalizations and with practice I know someday I will hear “I love you Mom.”  Brandon has a smile that can melt your heart, but also has the mischievous twinkle in his eye.

Some days, weeks, month’s etc. can be tough, but when that little hand holds yours as you watch Shrek for the 100th time, or when he picks out the same bedtime story every night, or when he is so proud of himself because he finally learned how to blow out a candle…

I know I have been truly blessed.

We love you Brandon, keep up the good work.

Tony, Lisa, Matt and Brandon N.

Valparaiso, Indiana

[email protected]

Chase W. age 22 – updated 4/2020

Hello Everyone,

It has been four years since I have written an update on Chase.  He is 22 years old now and I am happy to report he is doing great and staying healthy during this very difficult time of the pandemic.

During these past four years Chase has required two hospitalizations.  In April of 2017, Chase became very ill with pneumonia.  He was on a ventilator for three weeks.  We weren’t sure he was going to make it, but Chase is a fighter and we had so many people praying for him.  Many of you were part of those prayers, and I cannot thank you enough.  He has been metabolically stable for the most part except, of course, when he is ill.  In addition to the genetics doctor and the neurologist, we are seeing a cardiologist for long qt syndrome. We also see a nephrologist and learned recently that his kidneys are only functioning at fifty percent.   Despite these challenges, Chase remains relatively healthy.

Chase graduated from high school last spring.  It was so exciting for him.  I loved his school so much, but it was time for him to move on.  The biggest challenge was finding an appropriate program for him post-graduation.  I was able to find a program that could support all his needs and was able to obtain the funding for the program.  That was a huge relief!

Chase is such a happy person and brings a smile to everyone he meets.  He loves getting the birthday cards from the warrior birthday club.  He enjoys spending time with his family, especially, his older brother Kyle.  He likes to watch sports on tv and really enjoys going on walks being pushed in his wheelchair.  He is able to walk on his own but he tires pretty easily.

I hope that during this very difficult time all of our family members remain healthy.  It is such a scary timebut having an organization like this is so helpful. I cannot thank the PA foundation and the OAA enough for everything they do.

Amy

Mom to Chase 22 PA

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Update on Chase W., age 18

Hello everyone, the last time we had put out an update on Chase, he was ten years old. He will be turning 18 next month!  I can’t believe how the time has flown by.

Chase has grown into a handsome young man. He has really lost a lot of baby fat and has gotten leaner and taller.  We have had to make adjustments with his formula along the way, but, overall, Chase has been doing really well.  He still does not eat anything by mouth except drinks of water.

He currently is a junior at a special education school. He started this school as a sophomore.  This was such a great change for him.  We tried the program at our local high school, but, it just could not meet all of Chase’s needs.  Also, it had 2,000 students, whereas Chase’s current school has 200 students.  The program he is in is wonderful.  They are really teaching him life skills, and they have a sheltered workshop on sight.  Chase has certain jobs he must do every day.  The students, along with the staff go out into the community once a week.  He, also, receives speech/language therapy, occupational therapy, and aba therapy.

Chase has not been hospitalized for at least five years. Any sickness he has gotten, we have been able to control at home, including a stomach bug.  We have, also, finally have had Chase seizure free for 6 months.  He is on three medications for his seizures, and they have really controlled them well.

Chase’s physical strength has definitely declined over the years.  The doctors want to rule out everything, so a MRI is planned for him soon.  He has been fitted for orthotics and this has helped a great deal with his walking.  He gets fatigued very easily, and sometimes requires a wheel chair.  This is so strange for the boy that when he was younger, you literally had to “chase” him everywhere.

Overall, Chase is very happy. He really enjoys his books, his certain music toys, and watching sports on tv.  He likes to spend time with his family especially his big brother Kyle when he comes home from college.  He enjoys his extracurricular activities of basketball and baseball, he may not always participate, but he really enjoys being a spectator!

I feel very blessed to be Chase’s mom. He is such a special kid.  I am, also, very grateful for the PA foundation, as well as, the OAA.

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Chase W.

Our son Chase was born March 19, 1998.   He was our second child and my husband and I were so excited because we were having another boy and Kyle, our older son, was going to be a big brother.   We had no idea what was ahead of us.  Chase’s story is so familiar to all PA families.   By Chase’s third day of life, I knew something was not right.    He would not breastfeed and his breathing was very labored.  I also noticed an odd smell on him when I held him close.  It was late at night and I alerted the nurse, but she just thought I was tired.  I insisted that he be taken to the nursery for the doctors to check him out.    I remember calling my husband telling him Chase was very sick and this was before anyone told me what was wrong.  I just knew something was wrong with him.  As a mom, you just know.  Sure enough, the nurse came back, and told us that his temperature had dropped to 95 degrees and he was acidotic.  Of course, I did not know what that meant.  Fortunately, we were in a very good hospital and they immediately started giving Chase medicine that would help him, especially with his ammonia.  They did have to transfer him to St. Louis Children’s Hospital, but by Chase’s fifth day of life, the doctors at Children’s hospital were very sure he had Propionic Acidemia.   My husband and I, of course, had never heard of it.  I just remember asking God to please spare our son so my son Kyle could have a little brother.

Now Chase is 10 years old.  We can’t believe it sometimes.  In the beginning, the doctors were very guarded on Chase’s prognosis because he had an early onset case of PA and not a lot was known.   He has been hospitalized so many times we have lost count, but as he has gotten older, those hospital admissions have decreased.  He has just recently started having seizures again, but besides that his PA is very much in control.

Chase is such a sweet boy, he brings so much joy to our lives.  He is developmentally delayed, but he is making strides every day.   He really lives up to his name, by the time he was walking at 18 months, we were definitely “chasing “him around and have been ever since.   We are so thankful to all the OAA families and the PA families for all the support and advice.  With this disease, you can really start to feel alone, but it is such a blessing to be able to connect with other families.     This past year, we went to our first PA family day, and we had such a good time.  It was so nice to be able to talk to other families about g-tubes and other stuff and know that other people totally know where you are coming from.

We would love to talk to other families.

God bless you,

Amy, Jackson, Chase 10 PA, and Kyle 14

Tiffany B. – Age 16 – Updated February 2017

Tiffany B

Tiffany is a very outgoing person, she loves to talk. Her favorite things in the world are Odd Squad, Barney, and any kids shows on YouTube.  She is a sophomore in high school in a special education class. She has been mostly stable the last few years with her PA, just issues with long QT, and seizures.  She is totally g-tube dependent, but is always hungry.  She is very compassionate to others and is very sweet. It really takes a lot to get her down.

Hi, my name is Tiffany, I am 8 years old, I am in 3rd grade at Lithia Springs Elementary.  Some of my favorite things are Barney and puzzles.  I have a lot of delays, but thats ok, I am in a class a school where all the kids with me do too.  I don’t eat by mouth, I have this cool tube in my tummy and everything I need my Mom or Dad gives me through it.  Can you eat while you are asleep?  I can.  I have not been in the hospital for about 3 years now.  That is great for me, I hate the hospital and all the sticks.

I have an older sister, Amber, who also has PA.  I think that she is the coolest thing on earth.

God Bless,
Tiffany B.
Georgia