July Spotlight - "Aware of Angels"

The Aware of Angels organization was inspired by my daughter Asia.

At the age of 2 years old, Asia began our medical journey with 2 tonic-clonic seizures. Over the next several years, her list of medical symptoms grew and grew. We were often told by her doctors that she would “grow out” of many of her symptoms but we felt it was more than that, so we kept testing her for a “diagnosis”. Asia had every test available to us including lumbar punctures, biopsies, MRI’s, & blood work. We also saw several different types of doctors including specialists and natural healing. No diagnosis could be found. Five years later at the age of 7, her neurologist put in a request for a genetic test called a microarray. He was very reluctant that this test would be approved by our insurance company but it was and we went forward. After a simple blood draw, we had our answer just a few short days later. Asia was diagnosed with a rare genetic disorder (2q23.1 microdeletion syndrome).

I was confused and angry when I received this result.  I had put her through so much pain & discomfort looking for this answer and it came with a simple test. Why did I do that to her, why was this not an option earlier on, why won’t insurance companies pay for genetic testing, and why is this not available to everyone needing it when it could save lives and so much heartache?

Now we had the diagnosis, what do we do?

Asia’s geneticist recommended I look for a medical student that needed a “topic” to research for their doctorate program because there were no treatments, information or support available for her syndrome. Her doctor then referred us to family blogs and Facebook for information and some support on her rare syndrome-that is all he had available.  So we did just that, joined a Facebook support group and hundreds of children later-we have a network of parents to rely on. At the time of diagnosis, she was 1 in 100 cases reported worldwide (this year with new medical technology and reporting, cases are closer to 300. Access and sharing of information is powerful!).

We have been inspired to organize Aware of Angels to help families just like ours. Many families have shared with me that they are going through a similar situation like we have experienced. They have no answers, support, treatments, cures or awareness for their rare or undiagnosed children; and often their insurance company will not cover the cost of expensive genetic testing.

The idea with Aware of Angels is to feature as many of these children as possible through an online submission, where their stories and images are shared. When their story is posted on the website they become “searchable”-meaning another family, doctors, or researchers in different parts of the world searching for answers to similar questions or gene variants can find them.

We also have an ongoing awareness campaign using the Aware of Angels Photography Project. We believe that awareness will equal research, there is power in numbers and information! A limited number of photo sessions for children with rare, genetic, or undiagnosed disorders are donated each year. These sessions provide the families with life long memories, and the images are used to raise awareness on a global level. The images from 2014 were not only used to raise awareness online but in local exhibits as well. The 2014 images have been on display at the state capitol, the University of Utah, and are currently on display at Primary Children’s Medical Center. The schedule for our 2015 photo sessions will be opening the end of August. If you are interested in a photo session for your child you can email us or use the scheduling calendar or contact form on the website. We will give priority to the children with serious health conditions, and if a photo session is needed soon don’t hesitate to contact us now.

The other priority for Aware of Angels is doing all that we can to help the undiagnosed. Whether it be providing information, referrals, a post on our website, offering contact information or assisting with genetic testing (if that is the next step). We know that genetic testing can provide a diagnosis and answers for many children. The technology at this point will not help everyone. If the test does not provide a sure diagnosis, it will often provide gene variants which may be an undocumented disorder just waiting to be discovered. We know that we would not have an answer for Asia if genetic testing was not an option for us. Her diagnosis did not offer a cure or change her treatments but it guides her treatments, our goals and our expectations. It breaks my heart that so many are denied this option. We want to see more insurance companies covering genetic testing and we want the information that comes from it to be available to the next person as soon as possible! Utah Kids is the first to know that our next round of whole exome testing will be available in the fall. If this is the next step for your child, and your doctor agrees it is but insurance will not cover the test, there will be an application for assistance. Follow our social media outlets and our website for the opportunity to apply!

To offer additional assistance to our undiagnosed and rare Angels, we are holding a really awesome fundraiser the beginning of October! We would love everyone to enter our 1^st Annual Art for Angels art contest - it is going to be a lot of fun and more details can be found on our Eventbrite page. It is open to all ages with cool judges, prizes and artist event! Funds raised will benefit undiagnosed children. Your artwork can help these Angels!

Thank you Utah Kids for the spotlight and allowing us to share!! We love you!

Website:  http://awareofangels.org/

Contact: childgenetics@gmail.com

Facebook:   https://www.facebook.com/awareofangels

Instagram:   https://instagram.com/awareofangels/

Twitter:   https://twitter.com/childgenetics

Art Contest:   http://www.eventbrite.com/e/art-for-angels-art-contest-silent-auction-tickets-16556211073

Meet Daniel - Our July Kid of the Month

            Daniel Lyman was born August 10, 2008.  He was small but came into the world with a fighting spirit.  He is our fourth child and the perfect caboose.  Daniel was a preemie.  After what felt like forever in the NICU we were excited to get to take him home. He was born perfectly healthy, just early (we thought), but as time went by I noticed things were not quite right.  He wasn’t growing, he was always getting sick, it was a constant fight to keep him out of the hospital and he was not meeting any milestones.

 Around 9 months the pediatrician finally ordered a head CT.  When that came back abnormal we were sent to a pediatric neurologist, who immediately ordered an MRI.  I will always remember sitting in that neurologist’s office holding my son who was about 11 months and being given the results.  He was diagnosed with unilateral Polymicrogyria (PMG), which is a rare brain malformation. If we break down the word Polymicrogyria, “Poly” means many, “micro” means very small, and “Gyria” is the medical term for the bumps or the deep wrinkles in the brain. So out of that big word we get “many very small wrinkles in the brain”.  PMG occurs in utero when the brain is forming.  The wrinkles or gyri of the brain, being too small, are unable to process information correctly depending on the severity of the malformation. PMG is suspected to happen in about 1:2500 live births. Ninety percent of patients with this diagnosis have or will have seizures in their lifetime.  Every person with PMG is affected differently depending on various factors like, where their brain is affected, how much of the brain, the severity and if PMG comes as a solo diagnosis or with others.  One of the hardest parts of the diagnosis for us has been the unknowns.  Because of this, we made a choice to get Daniel all the help we could.  He has been in speech, behavioral, occupational and physical therapy.  We have tried to treat him as normally as possible and this has really helped him develop.

  For Daniel the diagnosis means the whole left side of his brain is affected, and he started having seizures around 15 months.  Here is the part that I will never forget:  I was holding my son who was pretty much a vegetable, and the Doctor said “this is as good as it gets,” and offered to give me phone numbers for care centers. We were told by more than one doctor that he would never walk or talk, or progress past where he was at the time of diagnosis.

 

Having Daniel in our home and part of our family has been the biggest joy and blessing we could have ever asked for.  Daniel has a laugh that is the greatest sound in the world. He laughs with his whole body and soul.  He learns on what we call “Daniel Time.” Nothing comes when you want it to or when the world wants it to but he gets around to learning things when he is good and ready. Daniel has global delays and learning new things is really hard for him, but that does not stop him. He walks, really he runs everywhere he goes, and is very happy!  He talks, and just finished kindergarten at Spectrum Academy, where he learned to write his name, which is another thing we never thought he would do.  His whole life he has been proving every doctor wrong. We were overjoyed this month when he finally decided to potty train and did it in one day!  We as a family learn more from Daniel then he will ever learn from us.  He is our Superhero! 

Father's Day 2015

It’s my privilege to write our blog post for Father’s Days this year. I have thought long and hard about how to honor all the fathers out there and here is what I came up with. Being a dad of special needs kids has brought many highs and lows over the years. For me I have not always appreciate what my kids are. I felt like “why me” when we learned our oldest had autism, and then when our youngest started being diagnosed with many things, I thought, “Why was I chosen to be these kids father?” Over the years I have used the word ‘I” way too many times and honestly, I have worn it out.

It wasn’t until I started noticing the small accomplishments that my boys would make each day that I began to quit using the word “I”. I had to take a step back and realize that even though I have sacrificed quite a bit so my kids can have everything they need, in all reality that is my role as a father. I think that the sacrifices I have made as a father are very small compared to the sacrifices my kids will have to make in their lives.

 My own parents sacrificed many things so I could play sports, go fishing each year with my dad, and have a yearly family vacation. As a father I want the same for my kids. Although my situation is much different from my parents, my goals are the same. I never want my kids to think I suffer because of them. I really try every day to find ways to show them we are very blessed in life.

I am very grateful that the children I have been given have made me a better person and father. Although I’m sure I’d talk about poop a whole lot less without them, I wouldn’t change my life for anything.

 This Father’s Day I pay tribute to all the Father’s out there that sacrifice so their children have everything they need. I have gotten to know many of the Special Needs Fathers out there, and you are all heroes! May we all, as Fathers, continue to have the strength to do the things that are necessary so our little heroes have a long and healthy life.

I wish all the fathers out there a great Father’s Day!


Scott Christensen

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

.

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!