Jordan F.

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

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. propionic acidemia foundation family story Jordan  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

 

Lauren June Delima

Lauren June (age 9)
June 14, 2001 – Oct. 13, 2010

Propionic Acidemia, Cardiomyopathy & Autism (passed away peacefully at Canuck Place Children’s Hospice from Congestive Heart Failure)

Dear Lauren,

It has been 2 months since you’ve been gone and we think about you every
minute of the day.  We miss you deeply.  This Christmas season will be
especially difficult as our grief and pain are still raw, but we have
peace in our hearts.  On Dec. 9th we visited your niche and found a letter
from a complete stranger thanking you for shedding light on him as he was
contemplating the value of life.  You have more than fulfilled your
purpose on earth by touching so many people’s lives, especially ours.  You
are a true angel!  We thank GOD for lending you to us and giving us the 9
memory-filled years with you.  We look forward to the day we get to hug
you tightly and kiss you endlessly once again.

With Love,
mommy & daddy

Please check out Lauren’s Webpage at http://laurendelima.weebly.com/  to see more photos and videos.

Vincent F.

Vincent F.

My most fondest memories of my son Vincent was his strength, courage and the constant happiness that he projected. His favorite things to do were to and I quote “go to the rides or “go bowl” and he loved to be with his family. Even though he battled PA he was always smiling and laughing. It brings me to tears when I think about it but it is something that he taught in all of us that whatever “life” God chose for you, it is much better to live it to your fullest than to give up. Vincent was 10 years old when he lost his battle with PA and we will never forget his beautiful smile and warm heart.

“The mention of my child’s name may bring tears to my eyes but it never fails to bring music to my ears. If you are really my friend, please don’t keep me from hearing the beautiful music. It soothe’s my broken heart and fills my soul with love.”

Kirstyn T

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.

KT5 KT4 KT3 KT2 KT 1

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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.Kirstyn T

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 Kirstyn T. Propionic Acidemia Foundation 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.

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]

Amber B.

Amber B. – 21 years old – updated February 2017Amber B.

Amber is a very happy person, even when she does not feel good, she is always smiling. She loves country music; Luke Bryan is her favorite.  She will be graduating from high school in May of 2017 and will begin a day program at a local training center with her friends.  The last few years her health has been up and down with her dealing with c-diff, DVT (blood clot) in her leg, diabetes, metabolic strokes, and long QT. But, through it all she is a fighter and has bounced back well and quickly. She functions at a 4-5-year-old level, but is still making progress every day.  She is an amazingly strong person who gives me strength every day.

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Amber's story propionic acidemia Hi my name is Amber, I am 12 years old and I am in 7th grade at Chestnut Log Middle School.  I have PA and I’m ok with it.  My favorite thing to do is listen to country music.  My favorite artist, right now, is Carrie Underwood.  I love to sing with her.  I love to eat anything that does not eat me first.  My favorite foods are spaghetti with marinara sauce, brocolli, and french fries.  I eat and drink everything by mouth, including my formula.  I kinda like the flavor of it.  I do have significant developmental delays, but I am very happy.  I have cool hearing aids, they are blue and white, and I just started wearing glasses.  Not too bad either.  I  have not been in the hospital for about 3 years now, I hate the hospital, but they give you cool stuff while you are there, like toys and games, my favorite thing to do in the hospital is play bingo, I am very good at it.

I have a little sister, Tiffany, she has PA too.  To me that is great, because I am not alone, she has to drink the formula too and get sticks too. It makes me feel better to have her there with me at the doctor’s office.

God Bless You,
Amber B.
Georgia, United States

Chase W.

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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Chase W

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.

Chase

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.

Tiffany B. – Age 16 – Updated February 2017

Tiffany B

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

Gabriel L.

Gabriel L.

Hi, our son Gabriel was born in London. He was diagnosed with propionic acidemia at 2 weeks of age after spending his first hours of life hyperventilating and with severe acidosis and high ammonia. Luckily, the medical team at Great Ormond Street Hospital for Children was very good at stabilizing him and at diagnosing him very quickly. Despite never showing actual fits, Gabriel was then diagnosed with infantile spasms (a type of childhood epilepsy) at 5 months of age after deteriorating progressively. We were again very lucky that he responded well to treatment with vigabatrin. He was weaned off medication at one year of age and has been seizure free since. At that same age, he stopped eating by mouth completely and a g-tube was inserted in his stomach for feeding. His formula currently comprises pediasure, polycose, XMTV1, vitamins and flax oil. He is been very stable metabolically for the past two years and is been followed up by the metabolic team at Children’s Hospital of Philadelphia every six months.

Gabriel’s development was very slow until 18 months of age but he has made tremendous progress since he started therapies with the Early Intervention Program when we moved to the United States. He just transitioned to a special education pre-school program where he continues receiving OT, PT and ST. Since he started school, his gains have been really amazing. He just started talking and is able to comprehend perfectly and speak words in all three languages he hears. He has also gained cognitively and matured a lot. He has still a lot to catch up being his major challenges his low tone and his speech but we embrace his enthusiasm and effort and try to offer him as much support as we can.

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Updated 9/2015 – Gabriel – 13 years old

As is often the case with so many children who are born with an organic acidemia, Gabriel’s first year of life was full of difficulties and hospital stays. After his initial crisis at 24 hours of age, Gabriel had lots of episodes of metabolic decompensation, and high ammonia levels, compounded by undiagnosed epilepsy (infantile spasms). Nevertheless, he started to stabilize around the time of his first birthday, and you can check out a summary of Gabriel’s first five years of life in a previous report we wrote for PAF.

 

During his first year of life, Gabriel spent 9 months with a nasogastric tube, which was so uncomfortable that it greatly contributed to his decision to stopping eating. But he got a G-tube at 15 months of age, and quality of life improved, not only for him, but also for the rest of the family. Through the G-tube, we started managing him much better at home because we did not have to rush him to the hospital every time he started throwing up. He became even more stable at the age of 3, and he started preschool also then. At that time, Gabriel didn’t have words and was incredibly delayed in all domains (especially motor and language) but he has overcome a lot and has been steadily progressing ever since. This was a little miracle to him thanks to an amazing teacher. Indeed, one very important thing for us is that Gabriel has not stopped developing, even though he makes progress at this own pace (meaning, very slow!).

 

At the age of 5 we found a school that could target much better his language delays and lack of socialization skills. He spent 5 incredible years at this fantastic setting. It was a great program for him. Although still very delayed, Gabriel now chats a lot and understands and speaks both English and Spanish (both his father and mother are native Spanish speakers) although he is clearly dominant in English. He now has a few friends at school and shows more interest for group activities, like soccer. He is no longer afraid of noise at the movies and initiates conversations with other children in the park. Academically, Gabriel is quite delayed but the fact that he is reading and writing is a miracle to us. He is also able to do very simple math.

 

The other little miracle we experienced with Gabriel is that at the age of 6 we found a wonderful feeding therapist (who was actually a special-ed teacher with experience in feeding issues from the behavioral point of view). She taught Gabriel how to eat (after 6 years of being 100% tube-fed). It was a very slow process but Gabriel now eats like 50% of his nutrition by mouth with a very wide variety of (very healthy!) foods: rice, pasta, vegetables, fruits and so on, everything with low protein, although he also eats the occasional egg or fish sticks. The reason why he only eats like 50% by mouth is because he still has very poor oral motor skills, and is very slow chewing and swallowing. Regardless, the fact that Gabriel can eat by mouth has helped tremendously to normalize our family: we go more often to restaurants, and Gabriel is happy to seat at the table with us and even request his own food from the menu. He has gained so much confidence as a result of eating by mouth!

In practical terms, the biggest challenge that Gabriel faces right now is his executive function (he has very poor coordination and motor skills, although he can run relatively well) and his language (he is diagnosed with a language disorder and although his IQ is a bit low, the psychologists think that part of the problem is his severe language issues). As a result of this, Gabriel attends a special-education school with highly individualized education. His class has two teachers and seven other children, and Gabriel still receives a lot of therapy at school (OT, PT, ST).

 

What is crucial about Gabriel’s life is that he is a very happy child. He loves water and has been learning how to swim for two years now and is able to execute quite a nice stroke (although the coordination with breathing is very difficult for him). In the past two winters he has also been trying adaptive ski and has absolutely embraced it. He has been traveling quite extensively around the world since he was 2 months old (we go often to Mexico and Spain to visit our families, and he loves playing with his cousin Marifer). Last year, the Make-a-Wish Foundation granted Gabriel a trip to Japan. He wanted to visit Tokyo, the city where Lightning McQueen (from the movie “Cars 2”) races in the middle of the night lights. It was an absolutely amazing experience and a very beautiful memory that hopefully will last forever in all of us!

 

For the past year and a half, Gabriel has been learning how to cook with a special-ed teacher. Although Gabriel is not very big eater he enjoys cooking very much, and we decided to develop a program whereby he could learn new skills and gain independence at the same time. So, every Saturday he prepares a shopping list for a new recipe, goes to the supermarket, chooses the ingredients and pays. Ideally, we are aiming for him to do all this independently at some point. When he gets home, he starts smelling, chopping and stirring. He is now able to turn the gas knobs on, boil water and add salt and pepper to a simple dish! He really, really enjoys cooking, and this is the one thing that takes him away from his video games and such. His new addition to the menu has been “pumpkin pie cheese cake”. He just cannot have enough of it! But he cooks all kinds of dishes from a Thai salad to Mexican corn soup. Although he often does not like the new dishes he makes, he always, always tries them. This plan has been really working very well to the point that Gabriel has expanded the repertoire of foods and flavors he eats now, he is no longer afraid of trying new foods away from home, and he is slowly gaining some skills that, we feel, will be valuable in the near future.

 

Looking forward, we think Gabriel’s life will be very challenging, as he is unlikely to be able to live independently. However, we feel blessed that he is such a kind and caring child who tries to enjoy new adventures, no matter the challenge. So, we try not to think too hard about what it will be, but focus instead on who Gabriel is and what he does right now, taking one day at a time!

 

Please, feel free to contact us if you would like to learn more details about Gabriel’s management or activities.

 

Cheers,

 

Marisa Cotrina and Juan Carlos López

[email protected]

Lucy H.

Lucy H. – updated Fall 2016

My name is Lucy And I have PA.  I am 18 years old and graduated High School in May. I also have: Autism, Aspergers, Prolong QT Syndrome, and some intellectual disability. All of these things make some parts of my life difficult for me to handle. Sometimes when I have to go through certain things like my health problems it can get a little stressful for me.  However I am so happy that even though I am the only person in my family who has special needs what so ever, my family and all my cousins love me a lot anyways and they love having me around.  Now I want to tell you a little bit about my family. Besides my parents I have: two siblings, a dog and two cats.

Out of everything I do for Physical activity my favorite would definitely have to be Ballet Dancing. I started doing Ballet atImage the age of 3.  . I am now in a Special Needs dance class.

In July 2015 my mom and I traveled with my cheer team to Los Angeles for the Special Olympics world games. We cheered for athletes at lots of the sports events and we got to perform our routines. We became celebrities, we were on the news, people stopped us everywhere for pictures and autographs. It felt really cool to be famous. I also did Rhythmic Gymnastics for a couple years for Special Olympics as well, and I won lots of gold metals.  I also do a Special Needs beauty pageant every year in April. In 2014 I won the whole pageant and I got crowned as: Young Ms. Fabulous. I got to ride on a float in the Christmas parade downtown that year in December. I was freezing!!!!! However I thought that was really super cool.!, because I had never done anything like that before.

I have a collection of 24 American girl dolls. I still play with them constantly when I am not at school, and its my favorite hobby. When I play with them it relieves a lot of my stress. In middle school people made fun of me for playing with them at my age, but now I just over look those people, because its what makes me happy. My favorite thing to do with them is brush out and style their hair. Especially with braids.

As far as school goes I am really good at math. I have taken in high school Algebra and Geometry. I was definitely better at algebra. I was in a resource Special Ed. English class, because I can’t comprehend that well when I read. I can read very well, but I can still only comprehend at about a 3rd or 4th grade level, so I choose to often read those books so that I can actually enjoy the story.

When I was a Junior I went to my school prom for the first time. I took my friend Niki to the prom with me because I didn’t want to go with a guy. When I went to prom it was not like I had imagined it being, but I thought it was so cool and I was overly excited to be going!!!! I danced that whole night constantly. But by 11:00 pm I was ready to drop and I fell fast asleep on the way home.

Some children & teenagers who have a disability don’t have very many friends or any at all. I consider myself lucky because I have a whole lot of friends. And they have all been also very supportive of me having a disability and this health condition.

My Summary: The older I have gotten the more I have been able to do with taking care of myself and my diet. I can nowImage make my own formula with supervision and I can do all of my own tube feedings. I only use my tube for my formula. The more we have learned about my daily values the more choices I have to eat regular food at school during lunch and when I am out with my friends. Some of the things that I eat are: apples, bananas, grapes, blueberries, raw tomatoes, carrots, broccoli, asparagus, green beans cooked mushrooms and onions, fried pickles, pickles, sweet potato soft pretzels, salad, macaroni and cheese, popcorn, crackers, pretzels, goldfish, fruit chews. Candy: mint chocolate, sour Patch, Jolly ranchers, suckers. My favorite food is Spaghetti. I am also able to keep track of all of my daily values using an app on my phone Myfitness. I get more independent all the time.

I graduated in May from high school. For my career I want to take care of as many children as I possibly can with all kinds of different special needs and disabilities. I want to help them learn and grow just like other normal children. To make this happen, I will be working with Vocational Rehab to explore future job possibilities and the further education I will need to do these jobs.

To sum it all up I have to face a lot of challenges in my life especially with learning because of my cognitive delays and learning disability. I always try to put forth all the effort I’ve got in everything I do. And in general I am a very caring and compassionate person. Everyone in my family and at school tells me all the time you are an extremely good friend. I think they are right about that. Having a disability makes it so that unfortunately I am a little less mature in some ways than other people my age. But sometimes I feel like that is what makes me who I am and also what makes me special. A lot of people have told me throughout my life in high school that I am a really strong girl. I really do try to be strong even when I don’t feel that way, but sometimes I have no other choice. I am a very smart and determined teenager. I am always determined to do whatever makes me most happy in life. The motto I have for myself is: “ You can do anything you want to as long as you stay strong and put your mind to it. With faith all things that you want to happen in life are possible you just have to believe in yourself.” I plan to use this quote for the rest of my life.

formula with supervision and I can do all of my own tube feedings. I only use my tube for my formula. The more we have learned aboutImage my daily values the more choices I have to eat regular food at school during lunch and when I am out with my friends. Some of the things that I eat are: apples, bananas, grapes, blueberries, raw tomatoes, carrots, broccoli, asparagus, green beans cooked mushrooms and onions, fried pickles, pickles, sweet potato soft pretzels, salad, macaroni and cheese, popcorn, crackers, pretzels, goldfish, fruit chews. Candy: mint chocolate, sour Patch, Jolly ranchers, suckers. My favorite food is Spaghetti. I am also able to keep track of all of my daily values using an app on my phone Myfitness. I get more independent all the time.

I graduated in May from high school. For my career I want to take care of as many children as I possibly can with all kinds of different special needs and disabilities. I want to help them learn and grow just like other normal children. To make this happen, I will be working with Vocational Rehab to explore future job possibilities and the further education I will need to do these jobs.

To sum it all up I have to face a lot of challenges in my life especially with learning because of my cognitive delays and learning disability. I always try to put forth all the effort I’ve got in everything I do. And in general I am a very caring and compassionate person. Everyone in my family and at school tells me all the time you are an extremely good friend. I think they are right about that. Having a disability makes it so that unfortunately I am a little less mature in some ways than other people my age. But sometimes I feel like that is what makes me who I am and also what makes me special. A lot of people have told me throughout my life in high school that I am a really strong girl. I really do try to be strong even when I don’t feel that way, but sometimes I have no other choice. I am a very smart and determined teenager. I am always determined to do whatever makes me most happy in life. The motto I have for myself is: “ You can do anything you want to as long as you stay strong and put your mind to it. With faith all things that you want to happen in life are possible you just have to believe in yourself.” I plan to use this quote for the rest of my life.  – Lucy

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Fall 2013

Hello friends,My name is Lucy and there are a lot of things that I do to contribute to this world even though I have Propionic Acidemia. There are lots of new things I just started doing this year and it has been unbelievable . It has created a whole new world for me.

I am 15 and a sophomore at HCHS in Lexington, KY. My favorite classes this year are child development and chorus. Last year my favorite class Algebra and I it was really hard for me but I still was able to get a b. This year I take biology, world civ, geometry and English. I have to have a teacher make sure I stay on task and sometimes write for me because I can’t write quick enough to keep up. We do a lot of homework and mom has to drink a lot of wine to get through it.I get help with making sure my tube feedings get done at school, I do them on my own but I still have an adult to make sure they get done on time. I take my lunch that mom and I decide on and measure at home. An adult makes sure I eat everything and if I eat something else, I call my mom to check and I bring home the package. At lunch you don’t have to sit with your specific class anymore and you can sit wherever you want. I like going to school because I get to see my friends everyday. There are some people that make fun of me and are never going to change. My fishy smell is a big issue. When people bully me I try to go to the principal or the counselor. They try to help but kids don?t always listen. Sometimes I get down in the dumps about this, but don’t want to talk about it because they will call me a snitch.

This year the most exciting thing was starting special Olympics cheer leading. This has opened up a whole new world for me because I made a bunch of new friends. It is a very good sport to do with friends because we work as a team. We went to competitions in Atlanta and here in Lexing-ton. We have the coolest makeup and this year we got new uni-forms with lots of sparkles. We have one of the most well known special Olympics cheer teams and were undefeated for 11 years. We have lots of people who can do flips and handsprings. I can do a forward and roll, an OK toe touch jump and I am working on a cartwheel but am trouble with my arm strength and straight legs. Cheersport competition in Atlanta was amazing. We won second out of 13 teams in the Special Needs Elite Division and I got a Cheersport jacket because it was my first year. I was so excited about being up on that stage with my team. I told my mom it was the best day of my life.

Even though I am 15 my favorite hobby is to play with my American girl dolls. I have 18. I also have been doing dance since I was 3. I go to a church dance program with my friend Anna, but this year I am going to stick to ballet and work with my elementary school dance teacher.It feels like I?ve been able to eat this well since birth now. I really love to eat. Some of the things I eat are chips, pretzels, crackers, goldfish, strawberries, pineapple, apple, grapes, bananas, blueberry, tomato, mushrooms, cooked onions, cooked cabbage, corn, carrots, broccoli, beans, peas, edemame, sweet potatoes, pizza, pasta, french fries and my dad and I go get Chi-nese once a week (veggies and rice for me). I also drink things like water, juice, milk, and sprite. I don’t drink my formula though because it tastes bad.

This year I was also in a Special Needs pageant where I won second in the talent part. I sang a song from a Bar-bie movie about friends and I sang acapella. I have a good voice and I like to sing. I went to Therapeutic camp this summer. I didn’t get to do Riding for Hope with the horse park this year because we were too busy with cheer. I was taking a tumbling class until I had to have surgery on my umbilical hernia and I will start that back soon. I took a musical theatre class at the Lexington Children’s Theatre one week this summer. It was called “Show your Wicked Side and we sang lots of songs from Wizard of Oz, Wicked, and The Wiz. I sang a solo part in Easy on down. After that we went to Chicago the first of August for a Special Olympics Gymnastics camp. It was great but really wore me out. Mom has been worried about me ever since we got back because I have been taking lots of naps. Dad says I need more exercise and they are making me take lots of walks and bike rides. The best part was I got to go to the American Girl store and have dinner.

I have a CLS worker who started in March. Her name is Miranda and she makes me do a lot of chores. We go to the grocery and she makes me estimate costs and choose which brand to get. I always get the cheapest. We exercise, cook, run errands, go to the library, do laundry, work on reading comprehension, go shopping at the mall and she makes me count out the money. We had a yard sale and I sold all my barbies so I could make money for Chicago. Miranda made me add up the sales and count out the change. Even though she makes me work I like her and we do fun things too like watch movies, have brunch with her niece, and get manicures. This sum-mer she helped me learn to wash my own hair. I figured out I could wear my goggles in the shower and the water wouldn’t get in my eyes. That is really great!I am back in school now and Cheer starts again next week. We are really busy with all this and mom says it wears her out, but it is fun!

That’s about all I have to tell for now.Love –Lucy

ps. I love to text and email so send me a message sometime.

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About Me:  Written by Lucy

 

My name is Lucy Caroline H.  I am eight years old.  I am a little girl who goes to Cassidy School.  I am in the second grade in Mrs. McCormick’s class.  I can read level two books; my favorites are Wings on Things, Junie B. Jones, and Hopscotch Hill books.  Even though I can read them very well I like them better when my mom or dad reads them to me.  My best skills at school are recess, 100% A+ Spelling Tests, and I am getting better with having green behavior cards (that means no arguing and talking back).

 

I go to Mrs. Kimball’s dance class on Monday’s and Thursday’s after school.  We learn how to do arabesques, kicks and sashays.  Last week we were in the variety show at my school.  We performed a dance to “It’s a Hard Knock Life” from Annie and all of us dressed up like orphans.

 

I have tube feedings but I like to eat too!  I like French fries, corn off the cob, asparagus, spaghetti with butter and salt, and most of all I love, love, love to cut up mushrooms, cook them with dad and eat them up.

 

I went to Disney this January with Make-A-Wish.  I got to dance with Minnie Mouse and the Princesses, ride The Tea Cups Carousel, Dumbo, the Magic Carpet and all the rides.  It was a wonderful trip.

 

I have two cats, one named Isabella and one named Samantha.  Samantha is a kitten and I got her for an early birthday present.  She is fun to play with and I try to remember to feed her.  I am looking forward to summer when I can go tubing and swimming in Grandaddy’s lake in South Carolina.  I love that!

 

About Lucy:  Written by Mom

 

What can I add about Lucy.  I can think of many words to describe her:  Determined, Talkative, Dramatic, Strong-Willed.  She has so much energy she wears me out with her determination.  I have to laugh sometimes when I remember thinking she might not talk.  This girl can talk your head off, and has a vocabulary beyond her eight years.  Lucy’s favorite thing to do is pretend.  She plays dress up, school, tea party, baby dolls, dance party, performs, sings, plays dollhouse, groovy girls, fashion pollys, barbies, pooh characters.  She is all girl!!!!!!

 

Lucy is maintaining normal cognitive skills at school.  We work really hard for this and do lots of repetition to help her with homework, extra help at school, tutoring, and therapies.  She has the most trouble with focus and things requiring this focus.  So far with repetition she is able to learn and every day it amazes me what she picks up that we haven’t worked on at all.  Socially she is a little immature.  She has trouble interacting appropriately with her peers, but we are working on this with social groups at school, coaching from teachers and us, playdates, social stories, etc.  We have seen progress in this area too, slow sometimes, then leaps.  I worry most that she won’t have friends because she can be so bossy or inappropriate with her peers.  We just have to keep working on this.  In a way I am glad she doesn’t care so much about what peers think, because they can be cruel sometimes, especially as she gets older.

She really loves her dance class and performing with the group.  This takes place as school and the teacher focuses a lot on team building and recognizing each others strengths.  It is a great way for the girls to get to know others in the school, not just the kids in her class.  Her school has been great.  She has an aid to do tube feedings and make sure she eats snack and lunch.  She also has some extra help with her work when she needs it.  Many of the teachers know how to do her tube feedings too.  I have been very happy with her care there.

She goes to church school weekly and this year she has her first communion which she seems to be pretty excited about.

Her Propionic Acidemia is in fairly good control as long as she is healthy.  We maintain strict diet intake, tube feeding and oral meals.  Lucy enjoys eating, which we work really hard for.  It is fun to take her to a restaurant and watch her order her “French fries with extra salt and a glass of water with a lid”.  She also likes spaghetti, spaghetti O’s, Saute’ mushrooms with garlic, tomatoes, asparagus, bananas, goldfish crackers, pretzels, garlic bread, waffles, butter sandwiches, the list goes on.  We check her blood amino acids and urine organics about twice a year now, unless she is sick.  Her growth is stable.  She is a big girl:  about 79 lbs, about 53 inches tall.

Lucy takes Atenolol daily for her Prolonged QT Syndrome which was diagnosed in December 2004.  She also has a leg length difference which effects her balance.  We monitor that through Shriner’s orthapedics and she wears a lift on her left shoe to help.  We are not quite sure what will happen with that as she grows, we just have to wait and see had bad the difference gets.

Just like normal families with kids we are busy.  School, play dates, homework, work for mom and dad, and the pa extras thrown in.  Lucy and I battle a lot, the mommy – daughter thing at its best.  Many days I feel like I am talking to a teenager already the way she argues with me over almost everything.  I definitely need my glass of wine every evening to get me through homework time. I am not kidding!!!!!  After all it is my job to take care of her and often that means being the bad guy, but I am a good mommy, whether she likes it or not.  HA!