June's Spotlight: MCADD

Since July 2010, we have been living with a rare genetic metabolic disorder called MCADD-Medium-chain Acyl-CoA Dehydrogenase Deficiency.  It belongs to a larger family of Fatty Acid Oxidation disorders.  MCADD, specifically for us, was diagnosed through newborn screening, and was only very recently included in Utah’s since 2006.  A follow-up diagnosis/confirmatory diagnosis occur through a blood test with an acyl-carnitine profile. 

In the case of MCADD, our two kids who have it cannot digest or process, at a cellular level, medium chain fats.  Usually our cell’s mitochondria transport the different lengths of fats through the cell wall and process them for energy, especially during a state of fasting.  Imagine a long chain of pearls.  It starts off as a very long chain, but when you cut off a couple, it becomes a long chain.  Cut off a couple more, and it becomes a medium chain.  Cut off some more, and it becomes a short chain.  That’s the same way our bodies break down fats.  When someone with MCADD tries to break down fats, they only get halfway, or up to the medium chain fats, before their body says, “Wait.  This isn’t energy anymore!” and either eliminates the rest or stores it.  Some patients use a supplemental enzyme prescription called carnitine to help rid the body of the broken-down very long and long chain fats so they don’t stay in the body and turn toxic

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MCADD can turn deadly quickly if a person who has the mutation fasts.  Whether it is from a surgical wait period or chosen event or period of illness like a stomach bug, they must seek medical attention at the E.R. and receive an IV with glucose in addition to potassium and saline to help supplement any sugar stores that may have been exhausted due to those adverse conditions.  Failure to seek medical attention in a timely manner can lead to heart attack or stroke or even death.

One of the first questions the geneticists at Primary Children’s was if my husband and I were first cousins!  Apparently, it’s more common in those with Northern European ancestry/heritage, but that doesn’t mean it doesn’t occur in those with other types of ancestries.

Before the medical community became aware of MCADD, 1 in 5 babies who had it died before diagnosis.  Many of those deaths were attributed to SIDS.

MCADD is a livable medical condition, and for that we’re grateful.  It does contribute to stress, however, because of illnesses that can and do go around, and needing a constant watchful eye on our children’s energy intake and expenditure.  There are very few deaths from MCADD as long as treatment is sought as soon as possible in the event of an illness or situation that leads to fasting, vomiting, and/or diarrhea.  Zofran has become a staple in our house. 

For more information about MCADD and other Fatty Acid Oxidation (F.O.D.) disorders, visit www.fodsupport.org This is a great place to connect with families who have members with an FOD or bounce ideas off if you’re looking for a diagnosis.  We see a geneticist at the metabolic clinic, but other families in the FOD support group see other specialists or even family practice doctors or pediatricians for regular, ongoing care.

Also, a new resource has recently come to fruition from the hard work of Dr. Mark Korson and his colleagues in the form of the Genetic Metabolic Center for Education.  Here is a little bit about the GMCE: 

www.geneticmetabolic.com

What is GMCE?

The Genetic Metabolic Center for Education (GMCE) is a new company created to provide educational solutions and consultative services to improve the clinical diagnosis and management of patients with metabolic disease. These products will be made available through technologically-advanced communications and distance learning.

Background on treatment of Genetic Metabolic/Inborn Diseases:

Physicians who care for metabolic patients are frequently called upon by medical professionals who need help in making a diagnosis, managing the care of a patient, or developing an appropriate treatment plan for a patient under their care. With advancements in metabolic screening for newborns, the number of patients who need a diagnosis and treatment is growing steadily, yet the fundamental problem remains that there are simply not enough physicians who specialize in metabolic disorders to adequately care for them. Many physicians have not been formally trained in this area of specialized medicine and metabolic clinics are being overwhelmed by this growing patient population.

 How we can help:

The Genetic Metabolic Center for Education was created to help address this critical issue by providing educational and consultative resources to better train physicians, specialists, and dietitians enabling them to quickly and properly diagnose their patients, provide improved care, and help their patients better manage their disease.

(I am not affiliated in any way with the GMCE, but I just wanted to spread the word because living with an inborn error of metabolism in two of my children can be scary enough and I hope it can help those looking for a diagnosis.)

For more information on MCADD or to connect with another local mom, you can reach Rachel at richie_rach@hotmail.com

Meet Isabelle - Our June Kid of the Month!

Isabelle (Izzie) is the most amazing 10 year old I have ever met!  She was born October 29, 2004. She was so little at birth that the nurse exclaimed "What a little peanut!" and the name has stuck ever since.  She was perfect; 10 fingers, 10 toes and a head full of thick black hair.

She was just 6 days old when our fairy tale beginning met it's first bump.  When I stepped out of a quick shower, she was blue in her crib.  She was quickly resuscitated and whisked to the hospital.  After a week long stay and  countless tests, we went home with a heart lung monitor and no answers.  Life settled down but we noticed that she seemed delayed in hitting her milestones.  She was slow to roll over, slow to sit, and by 9 months she was not crawling.  She also was not gaining weight or growing.  We started a new round of doctors and testing that seemed to go nowhere  We began receiving early intervention services in both OT and PT.

At the age of 2, we met with a geneticist.  We began a series of tests and we were told she has Angelman Syndrome.  We began to network and find others in our community and learned a lot. At 30 months old, she was diagnosed with failure to thrive.  We chose to have a feeding tube put in.  It was the best decision we had made!  She began to gain weight and grow, but she was still not meeting milestones.

On May 21, 2007, there was another diagnosis:  Rett Syndrome.  Rett Syndrome is a fluke mutation in the MeCP2 gene in the first Chromosome.  This is a predominantly female disorder.  Girls are born with no visual impairments, however around 9 months they begin to regress.  They show the same signs of a child regressing with Autism but it doesn't stop.  Girls with Rett have symptom of Autism, Epilepsy, Parkison's Syndrome. Generalized Anxiety Disorder (GAD) and they develop Cerebral Palsy.  Many, including Isabelle, have porcelain skin.  They are mute but intelligent.  They also have rhythmic hand movements, often looking as if they are signing the word "more".

Isabelle loves to cuddle, watch cartoons (especially Dora), having books read to her, flirting with boys and being danced around.  She is learning to use her MyTobii (eye gaze computer to communicate) and is finding her voice. We are so grateful to have such an amazing young lady in our family!

May SPOTLIGHT - Tender Mercy Angels

With what frequency do you have the opportunity to make a real difference in the lives of others, and during a time when they need comfort the most?

If your name is Melody Penrod you have a chance to do this often.  The reason for this stems from her involvement in a unique product she offers to families who have come face-to-face with the unthinkable; the loss of a child due to being stillborn, prematurity or miscarriage.

Her company (NPO pending), appropriately named "Tender Mercy Angels", creates tiny dresses and tuxedos so that families can bury their children in a beautiful, one-of-a-kind outfit.  These outfits are really quite beautiful, and reflect the natures of the precious angels who lived on this earth for too short a season.

Melody distributes the workload among 35 seamstresses who labor to manufacture these outfits and pre-stock hospitals in Salt Lake and Utah counties.  They are receiving on-going donations of gently used wedding dresses and prom gowns (light pastels) which are re-purposed into "Blessing and Bereavement Clothing" as described on her website:  http://tendermercyangels.com.  If your child passes away in the NICU, the hospital can request an outfit for your son or daughter to be given to you at no charge.  If your child is not in the NICU at the time of passing, or over the age of 1, outfits can be purchased for a nominal fee of around $50.  Proceeds are used to support local NICU's in Utah.

Visit the Tender Mercy Angels website at http://tendermercyangels.com.

Melody can be reached at 385-230-8440 or at melody@tendermercyangels.com.

We are AWESOME! - A tribute to Mom's .... from a Mom!

We are AWESOME!

I have been thinking about this post for a couple of days.  I want it to be positive and uplifting.  I don’t know about you but I usually get this big guilt trip on Mother’s day because I am reminded of all the things I either didn’t do for my children or should be doing now.  I also wanted to include everyone, Moms,  Dads who are  doing the dual role of mom and dad, guardians, foster mom’s, grandparents, anyone who is filling the role of Mom in our children’s lives.   And this is what I came up with.

WE are AWESOME!

We are strong. We can handle whatever is thrown at us.  We may not think we are or want to be, but we are strong.

We are flexible.  We can change our plans and reorganize our lives, in a heartbeat.

We do not wallow.  We all have those days when we want to give up, where we don’t want to be the Mom anymore.   We may have our very own pity party but we do not wallow in it.  We pick ourselves up and move on.

We can multitask.  We can drive kids to school, schedule appointments, eat breakfast, work on PT goals, and make our kids laugh all at the same time.  

We are inventors.  If they need it….we will find a way to make it.

We are just a bit crazy.  Because sometimes we need a sense of humor to get through it all.  (with soda and chocolate).

We are teachers.  We teach others about our children.  How to care for them.  How to treat them.  How to love them.

We are students.  Our children teach us something new all the time, and if they don’t their doctors or therapists do.

We are advocates, or in other words we are Mama Bears.  Do not mess with our kids!

We are hopeful.  We hope the new medicine or therapy we try with our children will do what we need it to.

We find joy in the little things around us.  Anything from a beautiful smile on a dirty face, to a dandelion, to stick figure drawings, to dare I say, poop art?

We love unconditionally.  We simply love our children.  We accept them for who they are and all of the things that come with them.  Machines, feedings, therapies, doctor appointments, procedures, temper tantrums, seizures, sloppy kisses, hugs, beautiful smiles, messy faces, silly songs,…….

We are Mom’s and WE ARE AWESOME!

Meet Jonny - Our May Kid of the Month

Meet Jonathan Barrington, also known as Jonny. He is just shy of a year and a half old and is a happy, active little boy. He is the joy of our life. He loves to play with toys that have lights or music and if they have both he is in heaven. Jonny also loves to look through toys that are translucent and see the light in different colors. He is always exploring toys and objects with his hands, mouth and eyes.

Jonny was born with Lowe Syndrome. Lowe Syndrome is a rare syndrome (about 1 in 500,000 people) that affects the eyes, kidneys and brain. It is a sex linked recessive genetic condition that women carry and males are affected by. Boys are born with cataracts, cloudiness on the lens of their eyes, and often have Glaucoma, an increased pressure inside the eye. Their kidneys do not function properly which makes it hard for them to put on weight and keep the nutrients that they need to grow and have their bodies function properly. These boys also have varying degrees of mental and physical handicaps, anywhere from moderate to profound.

Jonny was born in November of 2013 at the U of U. He spent his first ten days in the NICU because of breathing and eating issues. In his first 6 months of life, he had 5 surgeries and 8 other exams under anesthesia to take care of the glaucoma issues and cataracts on his eyes. He is a trooper and did so well with all of these procedures. He can see well with his glasses now. He can see a little without the glasses but it is not very focused. We hope to have artificial lenses implanted in his eyes about the time he turns 3. We work with a vision specialist from “Kids on the Move”, which is the Early Intervention program in our area, to help him maximize his vision and learning.

Jonny’s growth had fallen off the charts in the fall of last year and he was not taking in enough fluids to be well hydrated either. His kidney doctor recommended that we have a g-tube placed. This would make is so he could get the nutrients and liquid volume he needed. He had the surgery to place the g-tube in October at Primary Children’s Hospital and he did exceptionally well. Since that time, he has put on weight, grown taller and he has a lot more energy.

Jonny has low muscle tone and so we work with a Physical Therapist to help him exercise and gain strength. We are working on sitting up independently and also the skills to help him learn to crawl. Jonny loves to hang out in his bouncy saucer. It is really helping with his leg strength and balance. He also loves to roll around on the ground and explore his world.

He is very social and loves to babble, play and listen to upbeat music of almost any variety. He also enjoys finger play like pat-a-cake and itsy bitsy spider. He has several words in his vocabulary, but his favorite word is Mom.

We treasure every step forward that Jonny makes. He is our sunshine and he spreads joy and love with his smile. This journey that we started when Jonny was born has been hard at times but overall we have had a very positive experience. We have had to adjust our perspective on what we expect but that has allowed us to enjoy our little boy even more. We see the world through different eyes and we try not to take anything for granted. The love and support we have received has been wonderful. We couldn’t imagine life without our Jonny. For more information on Lowe Syndrome you are welcome to visit the Lowe Syndrome Association website at http://www.lowesyndrome.org/

Disorder Spotlight: L1 Syndrome (L1CAM)

We found out when I was 20 weeks gestation with my second child that he had hydrocephalus. After he was born we just treated the conditions it brought with it. When asked what he might have we were told multiple disabilities. We went seven years before we decided to have another child. Before getting pregnant we decided to see a geneticist to see if it might be a genetic disorder. They looked at our family’s background and decided that there was a 4-5% chance that there was a 50% chance that if it was a boy that it would have L1 Syndrome. It was thousands of dollars to do the testing so we decided that if we were to have another child that would have special needs we would be willing to take that risk.
When we went in for the ultra sound at 20 weeks for our third child we found out that he also had hydrocephalus. This is when we decided to have the genetic testing done on our second child. It came back positive for having L1CAM. We were given this paper written about our children’s condition:
http://www.ncbi.nlm.nih.gov/books/NBK1484/
L1 Syndrome is located on the L1CAM gene. It is a deletion or malformation having to do with this gene. These are some clinical characteristics of L1 Syndrome. X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS);
MASA syndrome (mental retardation, aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs); Adducted thumbs are when the thumbs is tucked into the center of the hand.
SPG1 (X-linked complicated hereditary spastic paraplegia type 1) this is like Cerebral Palsy.
X-linked complicated corpus callosum agenesis. This is when the corpus callosum in the brain has not fully formed.
L1 syndrome is inherited in an X-linked manner, which means through the female. Women who are carriers have a 50% chance of transmitting the L1CAM pathogenic variant in each pregnancy. Sons who inherit the L1CAM pathogenic variant will be affected; daughters who inherit the pathogenic variant will be carriers. Affected males do not reproduce. Carrier testing of at-risk female relatives and prenatal testing are possible if the L1CAM pathogenic variant has been identified in an affected family member.
Our boys vary in the severity of their condition. Some have very little head control while others can walk with little assistance. Many of them suffer from seizures. They require wheelchairs, walkers, seating system and bath chairs. Some are potty trained and others are not. There are only a few that can carry on a normal speaking conversation although some are able to use communication systems to have conversations. Several have autistic tendencies and sensory issues. Most of them have at least one shunt to drain the CSF out of their head.
Even though we deal with physical therapy, occupational therapy, speech therapy, and a myriad of other therapies our children are happy, good natured boys most of the time. They never cease to amaze us with the new things they can do or the things they understand.
Some of the Specialists we see are: Physical Therapists, Occupational Therapists, Sight Specialists, Neurologists, Neurosurgeons, GI doctors, Orthopedics, and other specialists as needed. Many of our boys have g-tubes.
L1 Syndrome is so rare that it has been difficult to find others with the condition. Here in Utah we have been fortunate to find four children (two of them being mine) that have this condition, but there are many that have not been able to find someone near that they can communicate with.
We went without answers for so many years. It was hard having children with a condition that we knew so little about. In the last part of 2010 we were finally able to find some others with this same condition. When we would ask doctors about it they would just say it is rare. A closed FB page was started and today we have 170 members. That would be parents of kids with L1 Syndrome. We reach from New Zealand to Finland to the USA to Brazil. We find the most support from each other. Our doctors sometimes ask us for answers about our boys’ condition.
We would rather have people ask questions then avoid us and shun our children.

Utah Kids - Kid of the Month

Deonna Rae Mayabb was born a healthy baby girl on April 21, 2004. She weighed 6 lbs. 7 oz. and was 19 ½ in. long. From birth to 9 months she did not meet many of her milestones and by her 1st birthday, she was not crawling and the few words she had were all but lost. Deonna started to crawl at 13 months and at 16 months started receiving early intervention to see if we could get her to meet some of the milestones. We had been seeing neurologists and the doctor’s kept telling me that the test results were showing there was no seizure activity. Also in October of 2005 Deonna was given a diagnosis of Autism. It wasn’t until December of 2005 where she took her first steps, just 2 weeks after having tubes placed in her ears. That was a wonderful Christmas present from Deonna to us.

2006 brought Deonna the whole new world of walking and climbing around the house on her dresser and her bed, where early intervention played a major role. Deonna endured 2 eye-muscle surgeries in that calendar year. One of Deonna’s favorite activities was to climb out of bed, open her dresser drawers, climb up to her t.v., and proceed to turn her t.v. on as loud as it would go and turn it to the Spanish channel no matter what channel we had left it on at 2:00 a.m. and proceed to fall asleep on her floor. This happened countless times . As 2007 rolled in Deonna was cruising the house and exploring like any toddler about the same age. In California at the age of 3, she had graduated the early intervention program and began preschool.

Following her short 3 months in a preschool setting her and her family moved to Ogden, Utah. Her life in turmoil and on life support on the 18th of October 2007. She began having grand mal seizures and no doctors could explain why they were happening. For days I did not see my baby girl open her eyes fearing that this would be the last time I would get to see her, due to the fact that every time Primary Children’s Medical Center PICU tried taking her off life support she would not breathe on her own. At this point in my life, this by far had been the hardest thing I would have ever had to gone through. When Deonna finally started to come around on her own days later the doctors tried many different medications all of which changed her tremendously. After this episode, the curious, wandering, adventurous little girl was gone , and for months we fought balances of medications and seizures to bring the little girl back.

Sometime in the Spring of 2008 when medications were lessened and small seizures were allowed to occur, Deonna started to express a whole new appearance. The wandering and adventurous girl never returned, however a smile and eyes that talked that could melt any frozen heart emerged. Deonna developed a new personality in which her laughter and smiles brightened even her darkest days. The start of a new school year brought her into the Northern Utah Autism Program (NUAP), followed again by an October bought of hospital stays because of major seizures.

The end of 2008 through 2009 Deonna fought through all of her seizures with a smile that only could be described as heaven sent. Deonna would see another eye surgery, a placement of a vagal nerve stimulator (VNS), a tonsillectomy and adenoidectomy, a placement of a G-tube, with countless EEG’s and sleep studies, along with one more stint on life support through the end of 2010. She got a diagnosis change in February 2011 of Rett Syndrome. With hindsight being 20/20 and with the research being vigorously pursued within the following weeks, Deonna’s diagnosis was relatively easy to trace a backwards timeline that met all expectations of our Rett children. Deonna has endured countless tests over the past 4 years since her Rett diagnosis. Numerous hospital stays, 3 visits to the Bluebird Rett Center at Texas Children’s Hospital, 1 visit to Colorado Children’s Hospital, and she has done all these as the happiest little girl you will ever meet. Always smiling, always laughing, and always trying to tell you something with her eyes. Deonna has never let her Autism or Rett diagnosis slow her down. She was the guest of the year at Wolf Mountain Ski Resort 2010-2011 in which her dad built her a custom sled so that she could enjoy snowboarding with the family. Deonna has been a season ticket holder for the Utah Grizzlies for the past 3 years. She loves being on the ice in her wheelchair and getting all the attention from all the players. This past summer she was able to enjoy bicycling with her family as her dad custom built a towable trailer for her wheelchair. This brought her great laughter and tons of smiles. Deonna is about to embark on a new family activity this year in her newly customized motorcycle sidecar. Deonna will turn 11 this month (April) and she has endured more that we could ever imagine all while being one of the happiest kids we have ever seen. If you ever have the chance to meet Deonna, please stop and say hi, because no matter how bad your day has been she will brighten it.