Kate L.

Kate L.

Kate was born May 25, 2007 and weighed in at a healthy 7lbs, 3oz.  Kate was diagnosed with Propionic Acidemia after we received notification that her Newborn Screening result came back abnormal.  We received the initial report when Kate was about 11 days old, and after additional testing we received confirmation of the PA diagnosis when Kate was 20 days old.  During this time, Kate showed some symptoms of PA—such as sleeping more than typical newborns, she was losing weight and wasn’t consuming enough milk.  On Wednesday June 13, 2007 Kate was admitted to the hospital and her lab work indicated that she was headed for trouble.  She was moved to ICU and protein was removed from her diet.  Kate received her special metabolic food and nutrition through an NG tube and we began learning more about her disorder.  Kate quickly showed improvement after her diet was changed.  Her blood ammonia dropped to a normal range from its high of 450.   After kate propionic acidemia2 days in ICU, Kate moved to a private room where we began working on bottle feeding and we increased her daily formula intake.  After 9 days in the hospital, we were able to go home as Kate was able to consume her daily calorie needs.

Kate is now 13 months old.  We have be extremely fortunate as she has been stable, healthy and growing since she was released from Cook Children’s Hospital last year.  We work very closely with her metabolic team.  Kate eats solid foods in addition to drinking her metabolic formula.    She just started walking and says more than 10 words.   She is currently on target in all areas developmentally.  Kate is a very happy girl with a sweet and loving demeanor.

As parents we are grateful for so many things.  We believe that Kate’s life was saved because of Newborn Screening.  If Kate had not been diagnosed early, we believe that she would have become very ill and where we lived in rural Texas was 3 hours from the specialized medical care that she would have needed.  The newborn screening in Texas was expanded in early 2007 (about 6 months before Kate was born) to include Propionic Acidemia.  We are eternally grateful the people that worked to get newborn screening expanded in Texas.  We have a wonderful relationship with all of Kate’s doctors and medical providers.  They are truly invested in Kate’s well-being.  We have had unbelievable support and help from our family and friends.  We have been able to network with other families that have children with PA and other metabolic disorders.  These parents share information and provide support.  We hope to be a support to other families in the future.

Landon, Sarah and Kate Lowry

Dallas, TX

June 2008

Lea and Eva

Lea and Eva

My husband is Juan Carlos, is 35 years old. I am  Alexandra, 29 years old. We got married on April 8, 2006 and on May 2 of the same year we found out that I was pregnant. On June 9, we were told there were two babies in different sacs and placentas. We considered the pregnancy to be normal since I did not have any kind of problems or complications. I had four ultrasounds/sonograms and everything seemed to be fine in regards to the growth and weigh of our baby girls. The C-section delivery was planned for December 20th (at 37.5 weeks) and the operation itself went fine. The first twin, Eva, weighed 4.11 pounds and measured 45 centimeters. The second twin, Lea, weighed 4.15 pounds and measured 47 centimeters. The following day after the delivery, I had the visit of the pediatrician/neonatologist, Dr. Esaú Coreas and he said the babies were fine, but in the afternoon he told us that Lea (the second twin) had been placed in an incubator because she was not well, she had not eaten enough and seemed not to be hungry. Later on, he called us so we could go see her, and he concluded after doing some exams and x-rays, that after not having eaten she had dehydrated and had gases. They starting feeding her through an I.V. and she seemed to get better, later on, we were called again, she had not responded to the I.V. after all, and she was in a comma. A catheter was placed on her to try to stabilize her, but that was of no use, since she died around 12:00 midnight. Dr. Coreas decided to also place Eva in an incubator, who even though was not yet presenting any symptoms, he did not want to discard the possibility that the same could happen to her. At 2:00 a.m. a test revealed acidity in the blood and he told us he was going to decrease it with baking soda; he then decided to do a blood test to check for ammonia, with the difficulty that at that time there was not a place that was open where the test could be done. He called us at 5:45 a.m. because he had found a lab that was open 24 hours. My husband took the sample, and when he returned, Eva had already died. Everything happened very quickly and according to what Dr. Coreas explained to us, everything pointed to a metabolic condition that did not allow for the assimilation of protein, which is consequence of my husband and I sharing the same gene that was passed on to our daughters. We finally had the result of the exam, Propionic Acidemia. Since then we’ve been reading and trying to understand how it is and what is, now we know a lot of it, we found the name amnio, but we are afraid of it, because we wouldn’t want to risk a new baby.

Kristin B.

Kristin B.
Kristin, it’s hard to believe it’s been fourteen years since you were born. Texas did not screen for propionic acidemia in 1999, and we found that out the hard way when you were five months old. Your first metabolic crisis landed our family in the ER on your brother’s third birthday, but at that time the physicians only thought you had a virus. After three days of IV fluids and glucose they sent us home. We still did not know you had PA at that point and continued to feed you high protein Similac. Over the next week you started to go downhill again with a lack of emotion, staring into space, and continued vomiting. By the time you were rolling your head back and forth your pediatrician called and told us you had PA. Fortunately the ER physician who examined you had ordered organic acid tests 10 days prior or we still would not have known what was happening to you. I guess that started the most difficult journey your dad and I could have imagined.
When we brought you home from the hospital you were limp, emotionless and had no upper body strength. You had lost your ability to lift your arms, your head was unsteady like a newborn, and you flopped over at the waist. Your skin was very pale, and the mental connection I had formed with you was gone. I did not know who you were anymore. I had lost my daughter, and I did not know if you would ever come back. That’s a hard thing to look at, day after day. But over time, with a lot of patience, therapies and normal playing, you have grown into a very pretty young lady who can do a lot of things that we initially thought you might never do. Although you do not walk, you crawl or knee-walk everywhere in the house, play with puzzles, musical toys and instruments, your mini computer and communication device, and you love singing songs with anyone. You have now confiscated most of your brother’s old toys, and your most fun games these days are zooming trucks or hot wheels cars across the floor with someone, or swinging your Star Wars light saber around! Your favorite shows continue to be Clifford, Little Bear, Zoboomafoo and Veggie Tales. You love to go outside, go for rides in the van and play on the piano. Your favorite DVD concert is U2 with Bono singing Beautiful Day. You will stand on your knees in front of the screen with a big smile on your face and then pull your shirt up over your head and sing when Bono comes on stage. My goodness, if you were “normal” I might have a wild child on my hands with you turning into a teenager!
Over the years your PA diet and meds have changed quite a bit. You are no longer on the anti-diuretc hormone DDAVP because we found out, again the hard way, that you did not have diabetes insipidus. That was a wrong diagnosis at age 4 and somehow for six years you managed to do well on a drug that could have killed you. At age 10 you started to have seizures and everyone was puzzled. You never had seizures in the past. Finally, we realized you did not have enough sodium in your diet and after some testing it was determined your kidneys worked fine and you did not need DDAVP. You really shocked the doctors with that one. One doctor said you are an enigma wrapped in a mystery inside a puzzle box! You still take a number of nutritional supplements which are designed to help ease oxidative stress or increase energy production. Theses include B-complex vitamins, high dose biotin, Co Q10, vitamin E, sodium succinate and L-carnitine. We also give you vitamin D3 and extra calcium.
Your once tailor-made g-tube diet that for years included Gerber veggies, fruits and cereal was replaced a couple of years ago with a synthetic formula mix of Propimex-2, Prosobee and Polycose. This diet was supposed to simplify things , but instead it has complicated your care. In addition to gaining more un-needed weight, your new diet has made your skin look paler unless we manage to get you outside in the sun a lot. You were more stable on your old diet that contained a complex carbohydrate (oatmeal) than the new diet that contains Polycose or Sol Carb. I’m sure your glucose was maintained at a more even level with oatmeal than a simple sugar that causes your glucose to spike every 2 hours when you are bolus-fed during the day. The main problem is that to keep you stable and ketone free we’ve had to add more calories than we’d like and you have gotten quite heavy. You have always gained weight easily, but this synthetic diet has caused you to gain the most. Another problem that has developed more as you’ve gotten older is that any increase in protein requires an increase in calories or you’re sick. It’s kind of ironic that at age 14 we understand you so much better, but that it takes more tinkering with your diet to keep you stable. Perhaps this is a companion of puberty?
Well, Kristin, you are now a teenager, and we are moving into another black box, a real unknown. I hope you continue to stay stable and happy once the hormones really start to cycle. And I hope you adjust well to your brother moving off to college in a year or so. You love your brother so much! What are your dad and I supposed to do when Eric is not here to say “nite-nite Kristin!” as your sign-off to go to bed? You already need Benadryl and melatonin to sleep well. We might have to do Face Time! Sweet dreams pumpkin, we love you.

No one can be prepared for the arrival of a special needs child. When you came into the world on Sept. 28, 1999 our family rejoiced at your birth and I marveled at God’s newest creation. You were so big, 8lb. 14oz., and had a head full of beautiful dark hair! Dad and big brother Eric (2 1/2 years) helped take you home and we were satisfied our family was now complete. You were a good nurser, but on the third day at home you began to reflux after you ate. Our pediatrician reassured us it was just normal baby stuff, but something inside me felt wrong. Two months passed and although you were growing and developing the constant refluxing made things so difficult. Since I was nursing you I didn’t know how much you were really eating, and sometimes after you threw up you were just too tired to nurse any more. It seemed to me that you were reacting to everything I ate that was spicy, so I limited myself to a bland diet to try to help. It didn’t.
You were also so sleepy. At first I was happy that you actually slept 6-7 hours at night, unlike your brother who had me up every 2 hours at the beginning. But this also turned to concern as you only wanted to nurse 5 times a day and took a 3-hour nap in the afternoon. We were advised to let you eat and sleep on your own schedule, but again I felt something was wrong. I just didn’t know what. You were not quite as active as your brother had been, and you didn’t smile as much as Eric at the same age, but everyone just thought it was a difference in children.
When Christmas arrived in 1999, you were 3 months old. We had a large family gathering and you caught a bad cold. The congestion made you so miserable, you threw up all the time because you couldn’t clear the mucus and looking back I can see that this is when you first started sliding downhill. Antibiotics helped clear the lung infection, but you were getting so little milk from nursing I couldn’t believe you were still growing. You were at 75% for height and 50% for weight, almost like your brother had been. This stumped the doctors in retrospect, because PA kids “aren’t supposed to grow that well.” The nursing by now was tearing me apart because I knew there was something wrong with my milk. I had intended to nurse you for a year like Eric, but I was getting desperate. One day you would nurse really well, but then throw it all up, then the next day you would nurse so little. We were on a roller coaster ride and the only way I could see to stop it was to wean you and put you on Similac which I could measure. That way if you threw up, I could make another bottle and give it to you. I tried feeding you rice cereal but it made you constipated for almost a week. At your 4-month checkup, when you still convinced the doctors there was nothing wrong, I told your pediatrician I was going to wean you early. That’s when our lives changed forever.
My dearest angel, if I had only known you were reacting to the protein in my milk I would have never given you Similac. At first I was so relieved when you chugged it down. After one day you had decided the bottle was OK, and began drinking more at each meal. It seemed to perk you up and I thought this was the solution at last. Why hadn’t I done it sooner? But no sooner had that hope appeared when it was suddenly dashed to pieces. It was Feb. 24, 2000, Eric’s birthday and 6 days after I had switched you to Similac. Your big brother was turning 3! After all the confusion and readjusting during the past 6 months we were finally going to have a celebration. That morning, however, was anything but a celebration. You awoke crying which was very unusual. Then you threw up 3 bottles in the morning and just wanted to sleep. You were almost 5 months old. As we were getting ready for Eric’s party, something told me you were in trouble. I didn’t know what, but you were definitely acting lethargic and looked like you were feeling bad. We rushed to the emergency room at Children’s Hospital of Austin, and after 2 hours of waiting we were finally seen by the physicians. Thank God you had been taking a bit of Pedialyte while we were there. You were so lethargic. The ER doctors kept pinching your skin and looking at you in a funny way. You were so dehydrated they said. But you had only thrown up that morning . . . it didn’t make sense. It took 6 hours to get an IV in you. It was a nightmare. Your veins kept blowing, and it took 12 tries before they finally got one to hold. You had a spinal tap and you didn’t even cry. It was to your good fortune that the ER doctor had the foresight to order organic acid tests that night, because I know now even he didn’t think you had meningitis. After 3 days in the hospital you seemed to be yourself again, and you looked so much fuller in the face and body. You were finally well hydrated. The doctors said you had an intestinal bug, no big deal. So we went home and put you right back on Similac.
Over the next 9 days you started to go downhill again. You began to interact with us less, smile less, and just had less energy. You began throwing up more, and a trip to the pediatrician only led us to giving you Lactofree. That helped for a day or two, then we tried Prosobee. Again the diet change seemed to help, but by day 8 you started staring around the room and moving your head back and forth. It was then that I got scared. I knew something was definitely wrong, and when we got to the pediatrician’s office, even the doctors agreed it was “either metabolic or neurological.” A call to the hospital revealed a diagnosis of propionic acidemia. I certainly wish it hadn’t taken 10 days to get the organic acid results back. Initially no one thought much about your ER visit. You didn’t have elevated ammonia, there was only a slight anion gap, and when you got back to baseline, everyone assumed you were fine. You were now immediately put on Carnitine and biotin supplementation. Our journey had started.
Two days later we found ourselves in the office of Dr. Stuart K. Shapira, M.D., Ph.D. metabolic and genetics specialist at the University of Texas Health Science Center in San Antonio. You are so fortunate to be in his care, Kristin. He’s the most knowledgeable and caring physician I have ever met. The whole team is great. They are now part of our family. Patty Thomas R.D., L.D. is your wonderful dietician and she is always available for consultations. She’s tailored some interesting and creative diets for you! Like when you couldn’t get enough calories and formula because of your refluxing . . . we simply put you on Propimex-2 instead of Propimex-1. It cut out some volume and you were able to keep enough of it down. Remember when we added the flaxoil and lecithin to the Propimex-2? It really worked to keep everything in suspension at night in the bag. Marsha Zimmermann R.N. is Dr. Shapira’s nurse, and her smile and encouraging words are always so comforting when we go to San Antonio for your checkups. Since my parents are both deceased and we have no family close to help, I feel so fortunate to have been given this great group of people. Your first year was so hard, and I really missed my Mom’s help and advice.
My little girl, I can’t believe you are already a 2-year-old! You were hospitalized twice between 5 months and 7 months of age because we feared you were becoming acidotic from not eating enough. You were OK both times. You had a g-tube placement at 8 months when you simply decided you wouldn’t drink your formula any more and started becoming acidotic. A few weeks later this was replaced with a Mic-key g button. We have to bolus feed you during the day, and at night you are fed by a pump. Sometimes you eat a little bit of cereal or veggies, but only if I let you get too hungry and that’s not good for you right now. Your tummy certainly has become sensitive, because you can tell the difference immediately if I try to pump you too fast. Your stomach has been such an issue from the start! At 15 months when you were in the hospital for an RSV infection, you couldn’t keep anything in your stomach for 6 days. Your little esophageal muscle was just too weak and never got stronger. You were also in such need of more liquid each day. At that time we were strongly advised to let the surgeons perform a Nissen fundoplication so you could quit throwing up, keep your food down and stay hydrated. You really don’t like ketones.
Although it was the hardest decision to make for you, the Nissen surgery has literally changed your life and our lives as a family. You finally can get ALL the formula and water you need each day, and we can actually go places as a family without fear of you throwing up on someone. You have been to the beach and to your grandparents ranch numerous times since the surgery, and if you get queasy in the car I only have to attach your extension tube and syringe like a radiator overflow looped under your leg. It’s amazing how it helps you. We’ve also learned that most of your gagging is simply due to air or mucus in your stomach. As long as we “burp” you well before and after eating you are fine. Colds, however, are still hard on you.
Your diet now consists of Propimex-2 70g, Prosobee 110g, lecithin 1 tbl., and flaxoil 15ml brought up to 30 oz. with water. This gives you a total of 2.5g protein/kg body weight. Your PCC enzyme analysis indicated you had between 4 and 14% enzyme activity, so you tolerate more protein. You also get cereal, veggies, and fruit which I mix with your formula boluses. You are on biotin 1mg/day and Carnitor 18ml/day. We supplement you with a B vitamin complex, multivitamin+iron, folic acid 1mg/day, coenzyme Q-10 50mg/day, DHA 100mg and vitamin E 400i.u. Once a week I give you a little extra chromium. In addition, you keep asking us for more water, so you get another 30 oz of water each day. I know you are hydrated!

My little overcomer, you have come so far since your attack at 5 months. When we first brought you back from Dr. Shapira’s office, I thought I was looking at someone else. You were so pale, so limp, you couldn’t lift your head, move your arms or roll over. You slumped in your chair swing and couldn’t sit at all. In all reality you had died. My baby was gone and replaced by someone I didn’t know. It took a long time to get to the point of seeing past the physical, to the real you. Now your Daddy and I work on bringing you back, and I know you feel that love. You and your brother Eric clown around and make us laugh. You two are so bonded to each other. You can now sit, clap hands, laugh, play with toys, crawl, stand with help and before long we know you will be walking. We can’t wait for that because you are 38 inches tall and weigh over 17 kg. You are our barbells! You also have a variety of hand gestures and vocal sounds to tell us what you want. Recently you have been able to say mama, papa, up, go, ba (for ball) and a number of consonant and vowel sounds. You are precious to us. We love you so much, Kristin. You have changed our lives, and without you I would never have thought we could rise above so many obstacles. We thank God for all the direction, support and guidance He’s given us during the past 2 years. Your smile and trust in us makes us want to fight for you all the more.

We love you,

Mommy and Daddy

Russell, Janice, Eric and Kristin

Nehori

Nehori

Nehori is now one year and ten month old, He was diagnosed as a PA suffer, a few hours after he was born.  Ever since he was born he has been suffering from illnesses such as: lack of appetite, can’t eat appropriately through his mouth and being fed through narrow tube that is connected to his stomach.
Recently he’s spending most of time in intensive care due to an incessant vomiting, without knowing what the cause to it is. . which is very frustrating to us and the doctors has no answer to his problem sence lake of knowlege in this specific disease.

Two mounth ago he was at E.R in ittenssive care and almost lost his life cause an unstopable vomiting that caused him obfuscation his contionce , only after helfh a litter blood, he came to his senses.

Today, we are considering a liver transplant on nehori, we are not sure cause we havent heard of any child that went a liver transplant yet.
In now days in his development: He can pronounce a few syllables, he is not able to stand by himself yet. He is a very happy child, which is smiling alot.

Update:  May 2012

Neoray had a liver transplant on November 2011 with the recommendation of propionic acidemia family stories nehoray 5-2012our doctor although the risks of the surgery this has changed his life.  Neoray can now eat proteins without limitation.  He started to walk and talk a little bit and start to have much less visits in the hospital as opposed to before.  Now the ammonia doesn’t cause problems and the quality of his life has improved drastically.

Allison S.

Allison S.  – updated 1/24/2019

Allison is a positive, bubbly 11 year old now. She acts like a normal 11 year old girl and while all of her friends know she has PA, they don’t treat her any different. Her favorite subjects are science, reading, and art. She likes playing soccer and softball, she doesn’t have the endurance that her friends have, but it doesn’t stop her from trying. She likes to play with Lego, make crafts, draw, and hangout with her friends. She likes to go on road trips and visit new places. She has decided over the summer that she wants to be a marine biologist and work with dolphins, after we visited the Marine Mammal Institute in Mississippi. She eats “normal” kid foods now; she loves macaroni and cheese, popcorn, and chicken nuggets. She has gotten more adventurous with trying new foods, like shrimp and fish. She measures and calculates all of her protein intake on her own.


Initial Post: Allison, 10 months old

Allison  was diagnosed with PA when she was a week old.  She was the first in the state of Missouri diagnosed by newborn screening.

She was very healthy and started eating table foods. She crawled very fast and was almost walking. She liked noisy toys, especially her maracas. She liked to play peek-a-boo and patty cake.

 

Trent M.

Trent M.

Born on April 21st of 2002, Trenton was born special. We knew that he was going to be special (and a little spoiled), he was the first grandchild on both sides of our families.   Little did we know just how special he was going to be. After having a typical uneventful pregnancy, he was born a bigger boy than we expected. 8 lbs 7 ½ oz’s & 21 inches long.  We took him home & started our new life together. For a few weeks, we thought we had the best baby ever. He slept soundly with us having to wake him up to eat & he never really got upset. Then the signs started… at about 3 weeks of age. He developed thrush in his mouth, had hiccups a lot & was constipated. The pediatrician assured us that all of this was normal. But on May 27th, we saw with our own eyes that something was not normal. Trent was lying on a blanket in the middle of our living room and starting having a seizure. It lasted only a few minutes then he was fine. Then a second seizure followed.

After arriving at Kosair Children’s hospital in Louisville, KY – he was immediately put on Phenobarbital, and had an EEG, MRI, & CT scan. He had seven seizures total that day.  That next day, we met an angel right here on earth. Our neurologist, Dr. Vinay Puri. Without this man, our little Trent would have not be alive today.  After a couple days of constant blood work, numerous tests and a muscle biopsy, Dr. Puri told us that he believed Trent had Leigh’s Disease. The life expectancy of Leigh’s disease is 5 to 6 years. Of course, our families were devastated. We were in the hospital for eight days on our first stay, so were ready to go home and enjoy what time that we had left with Trent. We went home from the hospital with instructions to take 7 or 8 over the counter vitamins/medicines. On our first night at home, Dr. Puri called and proclaimed the good news that Trent didn’t have Leigh’s but he had PA. Knowing only that PA had to do with protein, we thought “Oh wow, we will have to buy everyone a cookbook so that we make Trent friendly dishes.” Little did we know, that PA would impact so much more than our cooking.  The first month of officially knowing it was PA was rough, going for blood work every few days to check Trent’s levels. Dr. Puri, who had never heard of PA before now, was communicating with Dr. George Hoganson for guidance on how to treat it. We were put on Carnitine, Biotin & Propimex 1. We could see Trent staying awake for longer amounts of time so we knew that we were on the right track. The feedings were still a battle though after a 4 oz bottle feeding, we would hold him in our arms for an hour or more to avoid the refluxing or projectile vomiting. This went on for a few months and then in July we ended up back in the hospital because we couldn’t get him to eat. He was becoming life less again. By this time, we had been introduced to OAA. While at our July hospital stay, we urged for a g-tube & Nissan. Dr. Puri agreed that it was the right thing to do. We were in the hospital for 18 days (and we thought 8 was a lot before!). Going home with the G-tube, we were finally able to meet the real Trent. It was like a miracle. Being able to get all of his needed calories into his system, he immediately become alive. We have a photo album and it makes you so sad just to look at the photos taken of him before the g-tube was placed. The g-tube was definitely the best choice for us. There had been so many days in his first few month of life, where he didn’t even have the energy to cry even during a blood draw. So these days, his just hearing him cry was music to our ears.

With PA in our life, daycare was out of the question so my husband decided to work on a second shift schedule with his hours being from 3 – 11 pm. After a few more months, I finally went back to work and my hours are from 9 – 5 pm. Since our work hours overlap, Trent’s grandmother picks Trent up each day. She will stop & pick up Trent around 2:30 in

the afternoon and takes him to her house until I am off work. Our lives were getting some routine to them, not a typical family routine – but it’s ours. We had adjusted our schedules and outings to accommodate his every 3 hour tube feedings. Trent did really well for about a 4 month stretch, only requiring one quick 2 day stay in the hospital for fluids until Nov 2002. In Nov, he and I came down with a nasty stomach virus. This resulted in another 18 day hospital stay for us. Thanksgiving was nearing and we desperately wanted to be at home for the holidays. But Trent could not get rid of the diarrhea. While feeling desperate for some helpful medical advice, we got in touch with Julie Hardin in Lexington, Kentucky. She put us in touch with Dr. Rani Singh at Emory Genetics. Thru the advice of Julie & Dr. Singh, his diarrhea was finally stopped and we were released from the hospital the day before Thanksgiving. Since then, Dr. Singh follows Trent. She is another angel right here on Earth. She has helped us weather that same stomach virus since at home without a hospital stay.

As the 2003 year went by, things were getting progressively better for Trent. His early intervention was in full swing with PT, OT, Nutrition Services, & Speech. Our therapists proved to be awesome. At around 10 months old he sat up alone. begin crawling at around 14 months &  walking at 19 months. The speech & eating parts were (and still are) by far the hardest. Trent said his first word, “MA MA” at around 23 month of age.  Knocking on wood, the Nov 2002 has been our last hospital stay. Trent is 4 years old now & still delayed in every aspect but he is making progress daily. I would compare him to a 2 ½ year old child. He is doing much better with OT & PT. His attention span is still very short and he typically wants to play things “his own way”. His speech has really picked up lately too, although some of it is still hard to understand. His vocabulary probably consists of about 50 – 75 words and lately he is really into repeating what he hears. He will sometimes put a 2 to 3 word sentence together.  He has private feeding therapy every other week. At this time, he gets nothing by mouth and will only drink when forced. Currently his feedings are every 3 hours with three oz  of juice given between each formula feeding. At night, he is hooked up to an overnight pump. Having a tube feeding every hour & a half can be a little time consuming but since Trent has done so well with it, we prefer to just let it be. Outings are normally planned around the feeding schedules & the weather. We aren’t giving up hope that one day when eating becomes a social issue then he will want to take part and eat by mouth. He did attend preschool two days a week last year. He had terrible attendance (he was only there for 15 days) because he was always carrying home the latest germ. His 2nd year of preschool will be starting very soon. It is so hard to “let go” & send him to school – but we know that he needs the socialization side of school. His grandmother works at the same school, so it is comforting knowing that she is always nearby.

Trent loves typical kid things – singing, coloring, playing in rocks, feeding the fish at his Papa’s & Nana’s house, & riding the four wheeler with his Pap. He is such a joy to be around. He has such a happy spirit about him (that is until you pull into his doctor’s office). We hope & pray that the next few years find us having a healthy Trent who is continuing to talk up a storm & eat some by mouth. We know that God sent us a special child for a reason & even though PA causes our family stress on a daily basis, we know that God blessed us when he chose us to be the ones to take care of such a sweet little boy.

Sincerely,

The McKinley’s

To see more pictures of Trent, check out the August 2006 newsletter.

Aidan P.

Aidan P

Miracles Still Happen –

The Miracle Continues 

Aidan, born on March 23, 1994

Birth of an angel

Miracles still happen and my son Aidan, is a living miracle by me. Aidan turned 13 this year. He is a happy, cheerful, handsome boy who was diagnosed with Propionic Acidemia when he was 3 weeks old. Aidan had a difficult birth that was further complicated with a Steph infection when he was delivered. After spending in IICU during the first two weeks, he was released to us and everything seemed normal at that time. A few days later, we noticed that he seemed lethargic and inattentive with no inclination to feed. Repeated consultation with his pediatrician went no where and we were getting increasingly concerned that Aidan was fast approaching a comatose state. An unexpected call from the University of Pittsburgh that had screened Aidan’s blood for PKU revealed very high content and we were asked to rush Aidan immediately to the Children’s Hospital in Philadelphia. Aidan was seen immediately by a team of experts led by Dr. Paige Kaplan and admitted into the IICU (again) and placed on IV. It was found that he had very high levels of ammonia in his system. After several blood /platelet transfusions and a stay in the IICU for three weeks, Aidan was declared out of immediate danger and moved to the general pediatric ward. He was held in the hospital for a few more weeks before being allowed to go home. During his first year of life, Aidan was repeatedly hospitalized several times and each time it was a traumatic experience for all of us. He had spent over seven months in the hospital during the first twelve months of his life. The second year was slightly better with hospital stays that lasted days instead of months.

Tough beginnings

During the first few years the going was tough on all of us. It was extremely difficult for Aidan as we observed several global delays in him and he was late in hitting every developmental milestone. He did not walk until he was three years old and was not verbal until he was six years old. Aidan had a regiment of therapies as he was growing up and even though the therapies have dwindled over the years, he still continues to receive therapy on a regular basis.

To put our ordeal into perspective, I have to give a little background on our life before Aidan. My husband Ravi migrated to the US from India for his graduate studies and I followed him here after our marriage. Aidan was born exactly a year after I came to the US. The culture shock, the extreme cold weather and the loneliness of leaving my family and loved ones behind, just added to the complexity of the situation. Our life together was an emotional roller coaster and we had no family or real friends who could offer support at these difficult times. We could not partake in social gatherings since we always ended up leaving early due to Aidan’s needs and as time went by, people started leaving us alone since they did not have the emotional maturity to understand our situation and offer support or they did not want to be bothered. We had no one to turn to except each other and this brought us closer to each other since we were committed to giving our son the best life possible and I found the purpose of my life revealed.

For me, Aidan was never just a child, he is an angel sent from heaven on a mission. I am not saying this because I am his mother, but because everyone who comes in contact with him says the same. There have been strangers who have walked up to me and said your child’s face is angelic. His cheerful childish ways and endurance to pain in the worst of situations and his pure love for people is a miracle by its own.

Better times

Aidan was 3 years old when we moved to San Jose California. After a year of difficulty finding a good team of doctors, we became members of Kaiser Permanente. He was back again with an excellent team of doctors and nutritionist. His nutritionist Elaina Jurecki however has been the lead in shaping Aidan into what he is today. Her insights, knowledge and expertise has been a godsend to us.

We also became very active in a South Asian organization called Jeena. This organization is a support organization for special need kids. The organization consisted of families with kids like us who were also looking for a social network and who had faced the same level of ostracization from their social peers and who were yearning to connect and share with others in a similar situation. The challenges that we faced as a family in the social front, led me to play an active part in establishing this organization along with its founder. Having a special need child and coming from a different country/culture provided many challenges. And having no family in the country made it essential to develop a network of dependable friends who could empathize and offer both emotional and physical support at the time of need. In this process we have met many good people and made many good friends. We had found our bearings and with the passing of years we have formed stable friendships that could last a lifetime.

Aidan has been attending a special education school in San Jose. He was with the same Elementary school teacher/classroom for almost 5 years. He grew very attached to his teacher and it was also very difficult for his teacher to let him go. When he graduated from the elementary school she sent him off to middle school with a brand new Mac computer, a collection of software that can last a lifetime and books on several subjects that would serve a whole classroom full of kids. He is settling down slowly in his new school and adjusting to his new teacher. His new friends have taken to him well and are very fond of him.

Besides school, he goes to Score Computer Based learning center. He is very computer savvy and knows his way around with PC games and software. He loves web surfing and his current favorite is Youtube where he watches his favorite TV theme songs such as Barney, Teletubbies, Scooby-Doo, Jeopardy, Wheel Of Fortune over and over again. He also goes swimming and attends gym classes in Jeena.

Aidan has a younger brother Brenden who is 9 years old and who adores him. Aidan loves having his brother around. The beginning challenges we had in devoting equal amount of attention to both kids got easier as years went by. We have now learnt to balance our time and life between the two kids and also our careers. We also have a great nanny who helps us in taking care of the kids. We are able to travel places and do things that normal children do, like visiting theme parks, going to shows, going for bike rides etc. Aidan is finally able to ride a bike after so many years. This is a specially made bike with three wheels and pedals designed for children with physical difficulties. He wears braces to provide ankle support and uses a wheel chair when we go on long walks or have to travel to unknown places. He is very interested in music and dancing. He especially enjoys Indian music. He has an incredible sense of rhythm and it amazes me when I see him move to the beat even if he cannot use his legs very well. I often catch him dancing to music in front of the mirror. He has also participated in dances and performs in Jeena’s annual day celebrations.

Successful completion of a decade

He continues to be a miracle since his doctors gave us a very discouraging prognosis about his survival during the initial years of his life. So when he turned 11, I decided to publish a website for him. His website has brought in many contacts internationally and helps me keep in contact with people who have children with the same disorder in the far corners of the world, where they are not blessed with the quality treatment we get here.

Working towards a cure – the Fundraiser

I am a professional classical dancer and coupled with Aidan’s interest in Indian music and dance along with my husband’s and parents support, I decided to start an Indian dance school. The dance school has grown today quite a bit. Aidan completed 13 years this year and that made me believe that something needed to be done to raise awareness of this very rare disorder that even sounds alien to most pediatricians and medical professionals. Awareness is essential to raise funds and a CURE is needed to help our children. And it has to happen right now so that we can see some benefit from it during our lifetime. To keep the research going, we need funds. Being involved in a non-profit organization made me realize how hard it is to get a grant approved or to get donations coming in. So this year I decided to conduct a fundraiser for PA Foundation keeping in mind all my goals in increasing awareness and raising funds. My family supported me in this effort especially my kids and my husband.

Along with the students and parents of my dance school we put together a dance performance and a fundraiser on May 12th 2007. My friends helped me by putting up a silent auction and volunteering their time and energy for the several tasks involved in making the event successful.  The event was a huge success. It was attended by almost 500 people. Elaina Jurecki, Aidan’s nutritionist gave a presentation for about 20 minutes on the topic of PA and why funds were necessary to conduct research looking or a cure for this rare and devastating disorder. To many of the audience it was a revelation that such a disorder existed. There was no admission ticket charge and all the funds were raised through donations and the silent auction, was donated to the PA foundation for research. People not only donated during the event, but also several days after the event had taken place. Funds close to $3500 was raised during the event which has been sent to the PA foundation. In addition to the fundraising, there was quite a bit of media coverage on the event and its cause. But I believe that this is just the beginning. With my angel at my side, I am hoping to continue to contribute in whatever small way possible to help support this miracle and keep it alive. I have faith and belief that before long we will see the day when all our children will be CURED.

Yes, the miracle still lives and will continue to thrive!!

Selvi

Mom to Aidan and Brenden

Aidan’s Story is featured in the Fall 2007 Newsletter.

 

Elise

Elise
My husband and I recently celebrated 15 years together which might not seem like a long time for many, but we were around 15 years old at the time we met. Our lives were in perfect order; we completed college, secured great careers, married, and bought a beautiful home to grow our family. These were all things that we planned for before we decided to finally have children. We did not know at the time but God was preparing us for many upcoming challenges.
Our PA story began in October 2011 when our daughter Elise (1 week) was thought to potentially have an organic acid disorder based on her newborn screening. Elise was home from the hospital for one week all the while eating and sleeping great when her pediatrician indicated that her screening returned with elevated levels. My husband and I were not alarmed because her older brother Melbourne (18 months) had the same elevated screening when he was born and then it was deemed normal based on the repeat test.
While we awaited Elise’s second set of results little Mel woke one morning not wanting to eat/drink, was moaning and running a fever. His right side arms and legs seemed to be limp. We rushed him to urgent care where they indicated that they thought he was having a stroke/seizure. Mel was transported to Children’s Hospital of WI where a number of tests, spinal tap, x-rays, and brain scans were performed on him that day. The following day we were told that they did not know what the cause was and we could go home and he would be put on anti seizure medicines. Shortly before our expected release the genetics team which we had met with just days before about Elise entered our room.

They indicated that they thought Mel might have what they thought Elise has MMA or PA and he had suffered a metabolic crisis. After about a week in the hospital the diagnosis for Mel and Elise was confirmed; they both have PA.
My husband and I had suspected something was going on with little Mel’s digestive system since he had terrible constipation and vomiting episodes since he was about 9 months old; when I stopped nursing and we put him on formula/milk. For nearly 9 months before his crisis we visited with multiple pediatricians, GI specialists, and ER visits to figure out what could be wrong. No one ever mentioned PA, and dismissed my asking if the vomiting/constipation had anything to do with his newborn screenings. We often think back to the signs and symptoms such as vomiting, gaging/choking, lethargy, not thriving, staring spells, wobbling, and acid breath. This was at the time our only child and we depended on experts to help us figure out what was happening to our baby.

Both Mel and Elise are developing well; Mel is walking/running (getting into boy trouble) and starting to speak, he self-eats and drinks well. Since his crisis we have been following the PA diet very close with a Propimex mix and 15-16grams of protein/day. Elise is getting ready to crawl, she says “mama, dada, baba, and me” she is eating and drinking wonderfully a mix of Propimex/breast milk, and solid fruits and vegetables. Both children are taking Biotin, Carnatine, TriViSol, and Flagyl.
Our goals are to continue to closely monitor the kid’s diet to take every precaution to keep them healthy. We are researching and considering PGD/IVF and cord blood banking in hopes that our future children will not be affected and can supply Mel and Elise with a potential cure from the cord blood. I have been in touch with newborn screening advocates to find out how we can share our newborn screening failure story with others and changes are made in the processes so other families do not have to face the challenges that we have.
As I stated earlier God chose us to protect these babies and we will continue to fight for them. Elise was brought into our lives to save her brother; just days after her birth her brother started to lose his fight with PA and because of her help the doctors were able to save his life. We feel that our children will always have a close bond with each other and this will be quite the story to share with them when they are older and learn to protect one another time and time again.
Mel & Nicole

Mel

Mel

My husband and I recently celebrated 15 years together which might not seem like a long time for many, but we were around 15 years old at the time we met. Our lives were in perfect order; we completed college, secured great careers, married, and bought a beautiful home to grow our family. These were all things that we planned for before we decided to finally have children. We did not know at the time but God was preparing us for many upcoming challenges.

Our PA story began in October 2011 when our daughter Elise (1 week) was thought to potentially have an organic acid disorder based on her newborn screening. Elise was home from the hospital for one week all the while eating and sleeping great when her pediatrician indicated that her screening returned with elevated levels. My husband and I were not alarmed because her older brother Melbourne (18 months) had the same elevated screening when he was born and then it was deemed normal based on the repeat test.

While we awaited Elise’s second set of results little Mel woke one morning not wanting to eat/drink, was moaning and running a fever. His right side arms and legs seemed to be limp. We rushed him to urgent care where they indicated that they thought he was having a stroke/seizure. Mel was transported to Children’s Hospital of WI where a number of tests, spinal tap, x-rays, and brain scans were performed on him that day. The following day we were told that they did not know what the cause was and we could go home and he would be put on anti seizure medicines. Shortly before our expected release the genetics team which we had met with just days before about Elise entered our room. They indicated that they thought Mel might have what they thought Elise has MMA or PA and he had suffered a metabolic crisis. After about a week in the hospital the diagnosis for Mel and Elise was confirmed; they both have PA.

My husband and I had suspected something was going on with little Mel’s digestive system since he had terrible constipation and vomiting episodes since he was about 9 months old; when I stopped nursing and we put him on formula/milk. For nearly 9 months before his crisis we visited with multiple pediatricians, GI specialists, and ER visits to figure out what could be wrong.

No one ever mentioned PA, and dismissed my asking if the vomiting/constipation had anything to do with his newborn screenings. We often think back to the signs and symptoms such as vomiting, gaging/choking, lethargy, not thriving, staring spells, wobbling, and acid breath. This was at the time our only child and we depended on experts to help us figure out what was happening to our baby.

Both Mel and Elise are developing well; Mel is walking/running (getting into boy trouble) and starting to speak, he self-eats and drinks well. Since his crisis we have been following the PA diet very close with a Propimex mix and 15-16grams of protein/day. Elise is getting ready to crawl, she says “mama, dada, baba, and me” she is eating and drinking wonderfully a mix of Propimex/breast milk, and solid fruits and vegetables. Both children are taking Biotin, Carnatine, TriViSol, and Flagyl.

Kaitlin B

Kaitlin B.

Hi!

My name is Kaitlin and I am 7 yrs old and live in Huntington Beach, California.  I was diagnosed with Propionic Acidemia when I was two weeks old.  I got really sick just two days after birth and was in PICU for over two weeks until I was healthy enough to go home.  I am going into special education second grade next year and am really excited!  I eat through my g-tube four times a day and eat and drink a little by mouth.  I love rice, chips, tortillas, gummy worms, popsicles, and most green veggies.  I have a little sister named Maddy who doesn’t have PA and is my best friend.  We love to ride our bikes together, go to the park, and play dress up.  My mom and dad work really hard to get me to all of my therapies, school, and dr. appts.  My mom Michelle talks to a lot of other mommies whose kids have PA and is always looking for new mommies to talk to.

If you have any questions about how I am doing or would just like to say “Hi” email us at:

Hope to hear from you soon!

Kaitlin