Reuben

Reuben
Article from Spring 2013 Newsletter

 

When people ask me about my brother it’s impossible NOT to smile.  He is such an amazing person!  He’s friendly, strong, funny and has an infectious laugh.  Reuben is completely comfortable being himself.  He doesn’t judge others and has the purest soul I’ve ever met.   It doesn’t bother me that he can’t drive, that sometimes I have to “translate” what he’s saying to others, or that everything in his world is related to a sport’s team- that’s “Rube”, my baby brother and my best friend.

 

 

I remember the day he was born very clearly, I was five years old and I was nervous, very anxious to meet what I thought would be a little sister.  I remember being ushered into the room with my grandparents and my mama had the bow on the newborn cap covered up with her hand and then FINALLY she unveiled it and my life was forever changed- Reuben Wade Kleckley was born March 22nd, 1984.  He was named after four generations of Kleckley men and I’m sure my parents had dreams of him playing professional baseball like my daddy and granddaddy did, but God had bigger plans for him.

 

When Reuben was two days old, he became very ill.  He was having seizures and went into a coma- and the doctors really couldn’t tell my parents why this was happening or what was wrong.  No one had any answers and I remember it was a very confusing time for me because what was a happy occasion quickly became a scary time for our family.  Once he was moved to ICU, I wasn’t allowed to see him because no children were allowed, and that was hard because as a new big sister that’s all I wanted to do.  After a few days, the nurses and my mom got together and broke the rules- dressing me in scrubs from head to toe so that I could hold him.  I remember his baptism and watching him being baptized in ICU with my baptismal gown on, wires all over and a specimen cup taped to side of his head so he wouldn’t pull out his IV again- he was such a pitiful little sight.  When Reuben was about a week old, he was flown to Johns Hopkins in Baltimore and was diagnosed with Propionic Acidemia, at the time there were only about 75 cases in the country so the doctors really didn’t give my parents a lot of hope.  Most children didn’t live past infancy and those who did, typically had significant developmental delays.  The latter proved true for Reuben.

 

As a child, in those first years I don’t think I really noticed that he had global delays- not walking until he was two or using phrases until he was four.  It never dawned on me that he wasn’t doing things like other toddlers, I was just happy he was with us since there were so many times he almost wasn’t.  I think we were more focused on his health with surgeries and trips to Duke to see specialists than any delays.  I know my parents knew early on that he was going to have challenges, but it took me awhile before I noticed he was different.  I remember the questions from friends and family and sometimes the stares when we would go out in public- it made me angry as a child, but it never made me angry at Reuben, it made me angry at the ignorance or other people.  The only thing that bothered me about growing up with a special needs brother was that it was very isolating, I didn’t know anyone else like me and I didn’t have any friends who understood.  I had no one to talk to about it.  My parents would try, but I was afraid of feeling or saying anything that might hurt them or make them worry.

 

I think the question I get asked most often is, “Do you ever wish your brother was normal?”  Sometimes people are shocked when I say “no”.  I mean, what is “normal”?  I think about how happy Reuben is, how much he enjoys the simple things in life and how, at 28, he is completely unaware of the negativity in this world.  He’s had a lot of struggles, but he’s had so many more positive experiences!  Having a sibling with special needs is not something you wish for and it’s not always easy, but Reuben has given us so much more than we could ever hope to give him. Christmas mornings are still exciting, watching him sing “Victory in Jesus” always brings tears to my eyes and it’s because of him that I’ve dedicated my professional career to working with children with special needs.

 

For a long time I’d heard “you’re so good with Reuben”… so, my family wasn’t surprised when I changed majors my junior year at USC, to work with children with disabilities.  Once I met my first child with autism, I was officially hooked.  I became an Early Interventionist after graduating in 2003 and in November, 2011, I partnered with a colleague to form Carolina Behavior & Beyond.  Our company provides early intervention services to children with disabilities and developmental delays, mainly serving children from birth to age five.   I love what I do and it’s truly amazing to see a child develop and transform before my very eyes.  I found my purpose in life and I know without a doubt, I have Reuben to thank for that.  He’s taught me that being different is not the end of the world, that there is wealth in every life if you have the heart to find it, and that you don’t have to be in the big leagues to pitch a no-hitter.

Gwen M.

Gwen M. – updated May 2015
My beautiful girl just turned 9 years old this year and it seems nothing short of a miracle. At 2 days of age, Gwen became catastrophically ill, her body temperature dropped below 90 degrees, ammonia level exceeded 1,500 umol/L and she stopped breathing. She was placed on a ventilator and received peritoneal dialysis for a couple of days until she came out of her coma and was breathing on her own. On her 3rd day she was diagnosed Propionic Acidemia and her future was very uncertain. During Gwen’s first 3 years of life she spent as much time in the hospital as she did at home. Although she’s been admitted more than 50 times, she’s undoubtedly one of the happiest people on Earth. At age 1 she stopped eating by mouth, and since then she’s been fed 100% by a feeding tube because she refuses to eat anything. For many years she wore a backpack to carry her feeding pump, but she is now able to tolerate her formula through small bolus feedings and has a nurse who cares for her during the day.Gwen knows she’s very cute and she plays that to her advantage. What she does not yet know is that she’s very brave, has an endless capacity to forgive, an amazing will to live, and a beautiful spirit from God that has touched the lives of hundreds. She talks non-stop, sings the entire time we’re in the car, jumps off of anything she can climb on, loves to dance, play with her American Girl dolls and spend time with her brother and friends. She’s in second grade and receives special education services for PT, OT, math and reading. She’s also in Brownies and on the Special Olympics swim team! She is a miracle, a daily blessing, and a ray of sunshine in any room. I am grateful for every day I have with her and so proud to be her mom.

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Gwendolyn Grace M. was born at 3:33 p.m. on February 3, 2006. She will soon be only 5 months old, but has already brought a lot of drama to our lives! She was diagnosed at 3 days of age with Propionic Acidemia. At 2 days of life we found ourselves at Columbus Children’s Hospital emergency room only hours after being discharged from the hospital of her birth. We were quickly transferred to the NICU, where we spent the next 2 weeks. That first night at Children’s, her ammonia level reached over 1,500 & she had stopped breathing. The fantastic medical staff acted very quickly. Gwen was intubated & put on dialysis. We nearly lost her a couple of times during that stay, but she pulled through. She ended up having another episode less than 2 weeks after being discharged. Once again, she pulled through magnificently. We have quickly learned the fragile nature of good health, the strength of a family, along with the amazing power of prayer. My baby girl is nearly 4 months old & seems to be beating all the odds. Despite her rough beginning, she is meeting all her early milestones. Gwen has an awesome fun club, including her brother, parents, grandparents, aunts, uncles, cousins, doctors, nurses, teachers, & friends. We are so grateful for their love & support.   Check out our new web-site with even more pictures – Click Here.

Gwen’s 1st B-day!!!!

Toures Family

Toures Family

Ryin age 8 and Austin age 6.

Ryin was diagnosed at the age of 19 months old and Austin was diagnosed at birth,the boys see Dr. George Hoganson at Hope Childrens Hospital in Oak Lawn, Illinois. Dr. Hoganson tells me that both boys have a very mild form of this disease, so they just take 10cc of carnitine twice a day, which makes them both very different from all of the other stories that I have read in the past, they need no special formula, no G tubes and both boys are allowed up to 40 grams of protein a day. I would love to hear from any other who family who has a child/ren with PA.

Carrie
Mother to Ryin(8)PA and Austin(6)PA

Eilidh

Eilidh
It is several years since Eilidh’s story first appeared.  It is hard to believe how quickly time has passed and how grown up she now is.

Eilidh is now 11years old and has just started P7, so this is her last year at primary school, before moving up to secondary.  She currently attends a main stream school with a special educational needs unit within.  Eilidh loves learning to swim and horse riding with Riding for the Disabled.  Although there are still moderate delays she has made improvements in all areas including speech, in fact she chats all day long!

 

It has been almost 5 years since Eilidh has been an inpatient in hospital which has been great.  In the past few years new serious health issues have arisen, some of which are associated with PA. Having said that, for me, this past year has been the ‘easiest’ for looking after her, (not that looking after a PA child is ever easy).  She is on the least amount of medicines, daily Carintine, Atenolol, Movicol and monthly dozes of Metronidazole.  Feeding consists of Paediasure Fibre, Energyvit, Seravit, milk, Yakult and orange juice, but this is currently under review.

 

The limited eating she had has declined, but she does switch back on now and again.  Therefore she is now totally tube fed.  However she loves the social aspect and still loves ‘doing lunch’ with the girls!   She has ventured further a field on holiday and two years ago saw her taking her first flights.  As expected she took it all in her stride as if it was a daily occurrence.  She just loves the funfair and the wild rides at the theme park.  Last year she also was on a visit to London to meet one of her favourite TV characters, courtesy of Make A Wish Foundation.

 

One thing that has not changed about Eilidh is how happy she always is.  Eilidh’s sense of humour is absolutely fantastic and she is very much loved by her family, friends and almost anyone she encounters.

 

Ruth Milne (Mum)    [email protected]

Updated Sept 12

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2005 – Hi, my name is Eilidh (Scots Gaelic pronounced Aylay) and I live in Aberdeen, Scotland, UK with my mum RUth and my dad Alan.  I was born on the 6th November 2000 and at two days old the hospital discovered I had PA.  I was in the neonatal ICU for two weeks before I came home.  I am usually in hospital at least a few times a year, but I also visit my consultant and my dietitian every month.  I love all the staff at the hospital and they spoil me.

I have a g-tube to feed me when I’m sleeping and also for all my medicines and some foods and drinks.  When I’m not poorly, I eat all my natural protein allowance for the day, my favourite’s being baked beans & ham, toast, Quavers, bananas and spaghetti.

A few days a week I attend Raeden special needs nursery in Aberdeen.   I just love it and I get all my therapies going out on the bus on trips with my classmates.  I could start school this summer (2005), but I am going to stay on at Raeden another year and go to school when I am five.

I am veery happy 99.9% of the time and have a great sense of humour and my Grandma says ‘my eyes are just full of mischief’.  I love music, watching tv, going to the park and “doing lunch” with my mum’s friends!

If anyone wants to contact my mum Ruth they can do so by emailing [email protected]

Ben S.

Ben S

Ben S.

Our son, Ben, was born on November 23, 2002. He is our first and only child. He was born on his due date and was very healthy at 8 lbs. 3 oz. He was a wonderful, healthy baby and showed no signs of any problems until he was 17 months old. He woke up one morning and after breakfast started to vomit. We thought it was his first flu. By the next day, he started to become dehydrated so we took him to the doctor. After receiving IV fluids, he didn't bounce back as quickly as our doctor had hoped, so he ran some tests for inborn errors of metabolism. At the time, we had no idea what this meant, which was good since the results took 3 weeks. We went on living our normal life until we received the news that Ben was diagnosed with PA. Two days later we went and saw Dr. Jon Wolff at the University of Wisconsin. He and our dietician, Michelle, have been so wonderful in teaching us all we need to know to correctly care for Ben. That was one year ago. I am happy to say that Ben is a healthy, smart, funny 2 1/2 year old little boy. He is in PT and OT weekly and Speech Therapy twice a month. He is where he should be for his age in all areas. Ben does not have a G-tube. He drinks formula with strawberry Quik from a sippy cup and eats all normal foods. He is allowed 13 grams of protein per day. We thank God each day for gifting us with Ben. He is the light of our life, and though there is a constant worry, we wouldn't change any part of him.

Leah M.

Leah M.

Leah is now 8 years old. There have been many changes in the past few years. We moved to a new house, built an in-law apartment for her Meme who watches her after school, and inherited a new dog. (a black lab puppy). Leah also has 2 new cousins Rachel 1 ½ years & Brayden 1 year. Both were born happy & healthy. She has been very healthy and is growing taller now. For a long time her weight was a major issue and her height had stalled. We installed an above ground pool for her last year and the exercise has been great for her. Also we found a therapeutic horseback riding place for her to learn to ride and strengthen her muscles. She loves it. Leah still enjoys doing puzzles, listening to music, and watching movies. She’s a fairly easy going kid. She has a routine that we follow consistently that helps her to stay focused. She is in the second grade and is reading and learning nicely. She is a bit behind her pears both academically and socially but seems to be doing ok. She doesn’t like school very much. She has been “tested” regularly since birth for one reason or another that she seems to be annoyed with school work at this point. The teachers try to make it interesting and exciting for her though. Not much gets her super excited. That has been our struggle this year. We found that when Leah wanted to  ”get out “ of doing her work she was making herself sick and I would go pick her up. Finally we decided not to pick her up and she seems to have stopped doing this. We are going to have her tested for attention issues related to anxiety and stress to see if we can help her with this. Right now she is classified as “Other Health Impaired” because she does not fall into any other category which I think is hard for some teachers to grasp. She acts and does everything an 8 year old should do so why is she in special ed? And what affect does her Health Issue have on her learning ability? And will she get sick if we discipline her? I have tried to convey that she does have learning issues and just needs extra help and extra time to process things but it seems without a more definitive label some teachers don’t “get it”. And we even got a letter from her Docs stating that she can be and should be held accountable for her actions like any other child and it won’t “get her sick”.  I am hoping this will be our most difficult year and from here on she gets the help and support she needs. It is tough sometimes for us and especially for Leah. We have started to see the pressure she feels she’s under to do good and be good. Sometimes we just wish she could be a kid without all this other stuff. Feedings, Doctor appointments, Labs, special classes. So many restrictions.  We just try to do whatever we can to assure she stays healthy and is happy.

We just had an annual check-up and now have a list of follow up appointments to do. She had an echo, she’ll have an EEG and MRI in June and will be going back to follow-up with Dr.Korsons at Tuffs Medical Center in Boston. Leah’s diet consists of  her formula containing Duocal, XMTVI Maxamaid, Pediasure and Complete Amino Acid Mix. She takes Carnitine, Biotin, Dextromathorphan, CoEnzyeme Q10, Sodium Benzoate, Iron Supplement, B-1 & pyridoxine. She gets Zofran & Flagyl when needed and takes Zyrtec for allergy symptoms. She gets 3 feeding during the day with her Zervex, (the new Infinity) and an overnight. She has never been interested in eating but does enjoy chicken in a bisket crackers and buggles washed down with water. We have accepted that she may not eat and that is ok. We feel that if she is happy and healthy than that is all that matters. We love her the way she is and her happiness is the most important thing in the world to us. Thank you.

Louie

Louie
                     .

Alma, Louie and Bob

My friend Alma asked me to write about her son, Louie, who was diagnosed with propionic acidemia when he was one month old.  I found that I could not write Louie’s story without telling how he received a miracle — that miracle’s name is Alma —  Joyce Putnam

Louie was born in a remote Alaskan Village.   He was diagnosed with Propionic Acidemia when he was one month old.   It was difficult for Louie’s parents to care for him for two reasons.

1)  The people in his village live a subsistence life-style — fishing & hunting for much of the food they needed.   Because of high costs of shipping to remote villages, the low-protein foods Louie needs are expensive.   Fresh fruits and vegetables are often unavailable in the local store.  There was also the risk that someone else would feed Louie food he was not allowed to eat.  In a native village, kids belong to the tribe, so it is common for well-meaning relatives to offer food to all of the kids.

2)  Medical care in the village is inadequate for anyone with major health problems.   When Louie had a medical crisis, they had to wait for an airplane to come to his village.  Then he could be flown to Fairbanks for medical treatment.  On one of these trips to Fairbanks, his overwhelmed mother abandoned him while he was in the hospital.

Alma and Bob became Louie’s foster parents when he was 2 1/2 years old.  Physically and mentally he was stilll an infant.  He was tiny (undernourished).  He had never learned to crawl or walk.   Louie had major health problems.   His prognosis was poor.  PA had caused his rectum to fail.  His ears and sinuses were chronically infected.   Louie was expected to remain an infant the rest of his life.   His muscles and bones were so weak, nobody ever expected him to learn to walk.   He was not expected to live to age 5.

Today Louie is a 12 year old boy with the body of a small 8 year old (He is 47 inches tall and weighs 42 pounds.)   Mentally he is a mischievous two-year old.

When he is healthy, Louie enjoys life.  He can walk, climb, and ride a tricycle.  He loves playing basketball, going for rides with Alma on her John Deere Gator, and going to school.   He enjoys music and has his own guitar he likes to play.   He shows off to get attention.  He has a sense of humor and laughs a lot.    He is full of love.   He enjoys giving and receiving hugs.  As any normal “two year-old”, his favorite people are his “Mama” and “Dada”, his adopted parents Alma and Bob.

Alma’s love (with Bob’s support) is the miracle that changed Louie’s life.  That first year she stayed with him while he had colostomy surgery, PE tubes placed in his ears and a feeding tube inserted in his abdomen.

Alma took time to study about food.  She knows how much protein and vegetable, fruit and grain that she feeds to Louie.  She knows which foods have incomplete porteins that his body can digest and which have incomplete proteins he has to avoid.   She knows to the gram how much protein he eats in a day.

Alma provided the tough love needed to teach Louie to crawl, then walk.   She listened to him cry to be picked up while she waited for him to move toward her.  She understood how much it hurt him to use muscles he had never used before.   She also understood why it was important for him to learn to use those muscles.

Alma learned to know the early signs when Louie is developing an infection or other illness.  Treatment is now started early, allowing him to be treated at home and not in the hospital.

As foster parents, Alma and Bob were willing to provide Louie with the special care he needed.  They loved him as if he was one of their own.   As his love grew, they knew that God had given him to them.   When he was 5 years old, their love was strong enough to adopt a “special needs” child.

Today Louie enjoys life when he is healthy, but there are many days when he is not.  He still has ear and sinus infections, that are becoming more frequent.  His white cell count drops way below normal when he is sick.  The list of drugs that no longer work to treat his infections grows longer.   Providing him with adequate nutrition continues to be a challenge.   When he is not feeling well, the only food he tolerates is provided by his formula which is fed through his feeding tube.   Louie’s blood tests are discouraging.  Many factors, such as the white blood cell count, are too low.   Other factors, such as the amount of propionic acid in his system, are too high.

Equally of concern are the medical problems that can affect Louie’s quality of life — his ability to do the things he loves.    Although he can walk, his bones are fragile and break easily.   He wears orthotic supports in his shoes to support his ankles and to lessen the chance that he will fall and break a bone.   He is losing his hearing.  (This is not a typical symptom of pa).  He now has to press his ear next to a speaker to hear the music he loves.    Louie squints when he is looking at something that interest him.   Alma worries that Louie will lose his eye sight next.

Alma and Bob know that the miracle that kept Louie alive for the last ten years may not last much longer.   He has lived longer than many kids with pa.   Althought there is no cure for the disease, Louie is proof that proper diet and medical care can make a difference in the lives of these children.   It can give them quality of life — days when they can laugh and play — days when they can enjoy life.

Louie passed away on November 8, 2014.   He lived to be 20 years old and is now running and leaping and praising God and we look forward to seeing him again with his body without any medical problems.

Cadence

Family Stories
Cadence “Cady” P – June 15, 1996- January 31, 2017 Cady P.

My sweet Cadence was born on Saturday, June 15, 1996 at 12:39 AM. It was a long, hard labor for both of us, and she had a little trouble transitioning. She was sent to WVU Children’s hospital in those first hours, for observation, and came back home to me (still recovering from the cesarean that got her here) a few days later. I did not get to hold this precious blue eyed child until she was 4 days old, but once I did, I vowed nothing would separate us again. Two weeks later, PA reared its ugly head and sent Cadence back to WVU for 32 days. These were harrowing times, no one caring for Cady had ever seen anything like it, and it was a very long time before we realized what we were dealing with. I had just graduated with dual degrees from college literally two weeks before Cady was born, and my strength just happened to be in organic chemistry. The learning curve caring for Cady and understanding her disease was steep, but my background allowed me to understand it deeply and assume her care. Over the years, despite PA, Cadence had a very full and happy life. I refused to let this monster steal a second of our lives and was determined to give Cady everything within my power to ensure a wonderful life for her. She loved to travel, she has literally been from the East Coast to the West Coast of the United States. She had more friends than can be counted. She laughed and played every waking minute of her life. She was so full of joy and laughter. Over the last weekend of January, Cadence’s belly began to hurt and she had trouble having bowel movements. Ileus was common for Cady and we’d weathered several in the last few years. She was managing Saturday, but something changed Sunday. Her pain became more distracting to her, and she asked to go to the hospital. She always knew when it was time. Once at the local ER, ileus was seen on xray and an NG tube was placed to relieve the pressure on her stomach. She was immediately relieved, and was once again smiling and happy. She was loaded into an ambulance for transport to WVU for observation. That was the last time I’d see her smile.
Cady PTwo hours later, upon arrival at WVU, Cadence crashed and had to be rushed to emergency surgery. Surgeons discovered not an ileus, but a volvulous, where the bowel twists and cuts off the blood supply to the gut. Without blood, her gut began to die off, and surgeons removed 8-10 inches of bowel trying to save her. Over the next few hours, it was touch and go, but Cadence was so strong, she actually was managing to get better. In the end, however, the sepsis proved to be too much, she never regained her blood pressure, and that let to further death of her gut. We were given the option to stop these extraordinary measures and give her a peaceful passing. As I stood at the foot of Cady’s bed, rubbing her feet (because that’s all she ever wanted when she didn’t feel good), the rest of the world slipped away and it was once again just she and I. I closed my eyes as I held her feet and listened to her heart tell my heart, “No, Mommy. I just want to play. I don’t want to do this anymore.” And so, as the last act as her advocate, as her protector and mother, I gave her what she wanted, and returned her to her Creator. We stopped the drips and in just a few minutes, her heart stopped. At 3:35 pm on Tuesday, January 31, 2017, my sweet Cadence threw her arms around her Creator’s neck and laughed in utter joy. No more g-tubes, no more nausea, no more belly aches, no more fatigue. Cadence now only knows joy and my heart sings to know this. I never did anything so grand as to deserve the gift that God bestowed on me by giving her to me.  She was a blessing from beginning to end, and continues to be so.
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PAF Fall 2016 Newsletter
I’m not sure where to start with this update, it seems that Cady
has been around forever,Cady Graduationthat this life has been going on since the beginning of time, and yet I can’t believe I’m 43 and Cady has hit 20 years old.. Back in 1996 when she was born, I was told that she wouldn’t see two months, let alone 20 years. Those times, vivid as they are, seem so far away. And yet, how could two decades have passed?
For those of you new to the PAF (at least since our last update) I’ll just recap from the beginning. Cadence was born on June 15, 1996 in a small hospital here in northern WV. Everything seemed fine the first two weeks, until one day Cady would not wake up for me. I rushed her into the local ER and things only became more grave from there. She was sent out to WVU Children’s Hospital, but with a pretty clear warning that she wouldn’t make the hour and half journey. Well, she made it, but things continued to be pretty bad for a while. That summer we spent 32 days at Children’s, much of that time being on a tightrope of whether she’d make it to see another day. Hers was the first case of its kind they’d seen at WVU, and the medical staff there had pulled out all the stops to keep her alive. After 32 days, we knew what ballpark we were in, if not which disease we were dealing with, and she was stable enough to come home. During her time those 32 days, fibroblasts were grown and sent away for assay. The result  came back after Cady was home about two weeks.. She had Propionic Acidemia. She was the first child ever born in WV to survive to diagnosis. To this day, 20 years later, she is still the only survivor born here.
Things were kinda woogy for the first two years, but she stabilized out and we led a pretty uneventful life until she was 12 years old. Then in the summer of 2008, she became ill and the rules seemed to change. We had no idea why she kept decompensating. It took what seemed to be forever figuring out how to treat these decompensations. During the winter of 2009, she spiraled so badly that it really looked like we’d lose her. She made it through that episode, but lost most of her hearing to the wild electrolyte swings and crazy blood chemistry.  Finally, her GI specialist got her started on a flagyl regimen and that seemed to help. It didn’t stop the decompensations, but it did seem to fight them back a little.
In 2012, Cady became the Children’s Miracle Network Champion Child representing the state of West Virginia. It was a busy year, with many ups and downs. That was the year she turned 16, and also the time her doctors decided to look at her growth. They did a bone age study and at 16 years old, Cady’s bones were aged at 144 months (exactly 12 years). Her plates hadn’t closed yet, and there was some discussion about putting her on growth hormone to get more growth out of her before they fused. We tried it, and she absolutely flourished. The reaction was immediate and dramatic. Her appetite increased, she had more energy, better muscle tone.. it seemed growth hormone was a wonder drug for her. But she took to it a little too well and it swelled her brain in a condition called pseudotumor cerebrii. The pressure in her skull was crushing her optic nerve, threatening to blind her. I couldn’t stand the idea of that.. this disease was picking my baby apart, first her hearing, now her sight. We stopped the growth hormone and put her in the ICU. She had to be started on Diamox, which is a cerebral diuretic. The problem with Diamox is that it causes hyperammonemia and bicarb wasting at the level of the kidneys (you all know what that means.. high ammonia and low pH. Yay, just what we need!) It was a dance with the devil, balancing the need to quickly get the swelling down in her brain against causing a metabolic crisis. Fortunately, it was a dance that we won. No more growth hormone for Cady. Ever. But she kept her sight intact and didn’t suffer much more than a metabolic hiccup.
That same autumn, she won Homecoming Princess, voted by her sophomore class. Her classmates had grown up with her since the time they were all four years old. They are very fond and very protective of Cady. She won by unanimous decision.
The last few years, up until this past late Spring, Cady continued to be unstable. I tried different things with her diet, and that would work for a while, but we’d always end up back at square one. We began alternating flagyl therapy with augmentin, which also seemed to help. I was never a fan of giving her flagyl all the time, due to it’s black box warning and the fact that I’d like to figure out WHY she’s decompensating and stop it instead of just trying to treat it all the time. It appears I’ve finally hit on the the right combination, for Cady, at least. Cady had been orally fed for years, but in light of the fact that she was on the pump with her decompensations about as much as she was off, I decided to put her on the pump exclusively and give her system a rest. I also could find nothing but unproven theories regarding what was going on in her gut, causing these cascades so frequently, but what I did find was that her symptoms seemed to be  more consistent with imbalance of gut flora versus over growth. I changed the supplement regimen that she’d been on for years and began using ID Life, which uses a specialized, individualized health assessment to generate a personalized recommendation. There were probiotics in her recommendation, something that her doctors had not wanted her on in the past. These supplements are also pharmaceutical grade, unlike the unregulated, unverified supplements on store shelves everywhere. So, I took the plunge and started her on the new supplementation. All I can say is, WOW. She is stable again, happy, growing like a weed and the healthiest she’s been in a decade.
She also attended prom this year, her Senior year. She was once again the darling of her classmates’ eye, as they voted her Prom Queen. A couple of weeks later, and in defiance of every odd levied against her when she was two weeks old, she graduated high school.. with honors.
I can not convey how very proud I am of her, of how blessed I feel to have walked this journey with her, nor how humbled I am that I was chosen to be this very special child’s mother. She makes me proud every single day.   –  Leslie

Maren S.

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

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.