December Spotlight - Now I Can Foundation

Now I Can Foundation is a local charity and physical therapy center for children with disabilities. 

The center was founded by a Provo couple who experienced a revolutionary therapy with their daughter in Poland, and brought that intensive method back to Utah in 2006. 

Tracey Christensen, Co-founder says, “Now I Can is a special place where kids achieve their goals of becoming more independent, and parents have their hope nourished.”

Here are a few FAQs about Now I Can:

*What kind of therapy is it? Now I Can specializes in the intensive model. Most of our sessions are 3 weeks long, 5 days a week, for 4 hours a day. We use traditional methods, and some unique tools, such as the Neurosuit—an orthotic suit. The main difference is the intensity—time to practice and repeat. We also use more hands-on methods, meant to benefit those with neuromuscular challenges. 

*What conditions are treated at Now I Can? Any child with a need for physical therapy will benefit from therapy at Now I Can. Such as, cerebral palsy, undiagnosed disorders, developmental delays, stroke or tumor recovery, spina bifida, etc!

*Do you offer maintenance therapy? Yes, we do! Because we are a private center, we can completely customize to what your child needs. We do give preference in scheduling to those who want an intensive session.

*How much does it cost? Now I Can bills to insurance, and many providers pay for some or all of treatment. As a charity, we seek to help anyone who needs this therapy to get it! So we offer grants of $500-$3000 to help with the $6000 3-week session fee ($100 per hour therapy).

A few things that are unique about Now I Can are the family rooms adjacent to each therapy gym so that parents can work or hang out comfortably with siblings during the session. We also have a residence—the Now I Can Cottage, where families from out of town stay while getting treatment at Now I Can. This costs them only $15 a night, and is blessing many families from all over the country.

The Cottage also houses Provo’s first accessible, fenced playground! All Utah Kids are welcome to come to our play dates, or contact Tracey anytime you’d like to use it. (tracey@nowican.org)

Here’s what Rachel, a recent patient’s Mom had to say: "Thank you for everything! I don't think I get enough opportunities to thank you for everything you've given our little family. It had been a roller coaster ride this past year and a half, and Now I Can has given us so much hope and happiness."

Now I Can is more than physical therapy, and more than a clinic. It’s a family. We love our opportunities to rub shoulders and support each other at our Christmas party, annual 5K and other events. These children are angels that grace our halls… and that’s why we make a star with their picture at the end of each session and hang it on the wall to commemorate their spirit and determination.

Now I Can offers free screenings to help you check out our team, our facility and to learn more with no obligation. Call 801-228-1935 to schedule with Melissa. Videos of therapy and more info is available at nowican.org

Giftmas - Day 13

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Giftmas Day 1

This year we bring back our 13 Days of Giftmas.  Each day check our blog for a short list of action items that will help to promote Utah Kids Foundation.  The more tasks you complete the more entries you get in our daily raffle.

Our gifts this year range from $30 up to $250 in value.

This is our way of thanking everyone for their support, donations and love as we kick off Christmas 2015.

Merry Christmas from all of us at Utah Kids Foundation.  May your families be healthy and happy this holiday seasons.

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Utah Kids Foundation - Kid of the Month - December 2015

My daughter is Zoey, she will be turning 3 this december and she was originally diagnosed with infantile Spasms. She was diagnosed at 6 months old with no know reason. After struggling through lots of different medications. ACTH helped her stop the spasms. A few months later Zoey started to do more spasm looking things again so after more tests, blood work, EEG and MRI we were told that her brain has epileptic tendencies, but doesn't have seizures. We are still having trouble understanding this because of all the videos and opinions from other families, she looks likes she is having seizures.

After doing a bit of research and a a false positive diagnosis of Rett syndrome, we decided we wanted to dig more into what Rett Syndrome was and get her re-tested. That is where we are now, waiting for February to come to meet with a genetic counselor and doing more DNA testing to give us an official yes or no to Retts. The unknown is difficult, but my little Zoey bug is a pretty happy kid. She loves anything to do with water and climbing. Not a good mix, so she keeps us on our toes!

 To get all of zoeys story you can go to:

 www.babyzoeystory.blogspot.com

November Spotlight - Chronic Recurrent Multifocal Osteomyelitis

Meet 9 Year old Holden (AKA my little squish). Holden is a very smart, strong, sensitive and compassionate boy. Holden lives with many different conditions. A lot of his diagnoses were a gradual process of putting pieces together. Sometimes it still feels like we are working on that 1,000 piece puzzle and only get one piece at a time.

 From the time he was born Holden suffered from chronic infections. As time went on I could tell other things didn’t seem to quite add up. At the age of 2 Holden was diagnosed as speech delayed and by the age of three diagnosed with Sensory Processing Disorder. Along the way we continued to battle with infections and he began experiencing other health concerns regarding his bones. At the age of 5 a lot of things came together all at one time. In May that year he was diagnosed with a Primary Immune Deficiency Disorder called hypogammaglobulinemia. Meaning his body does not make antibodies to fight infection. He currently receives Plasma infusions every three weeks through a port a cath. By that fall things began to crash and he was diagnosed as a Type 1 diabetic. In the meantime we were still dealing with muscle weakness, bone disorders and failure to thrive issues.

By early the next spring and through a long string of several doctors Holden was also diagnosed with a rare bone disorder called Chronic Recurrent Multifocal Osteomyelitis –CRMO. Holden has gone through countless surgeries, scans, blood draws, lots of trial and error of medications, you name it. Holden also battles with generalized anxiety disorder and ADHD.

Despite Holden’s challenges he was dealt his is a very happy boy. He LOVES Lego’s, his friends, playing board games with the family, Minecraft and playing kickball. Above all Holden has learned compassion. It is amazing to watch him truly feel what others are going through and often says he wishes he could take it from them or wishes it was him. He’s my hero!

 

Utah Kids Foundation - Kid of the Month - November 2015

Our little Lukas is a 5 year old bundle of energy. He has primary Microcephaly due to a recessive gene both parents must be carriers of. Micro-what-a-ly? Microcephaly, micro for small; cephaly for brain. Luke's brain slowed down during gestation, and has completely stopped growing. His head measures less than half the circumference of his peers. He also has an agenesis of the corpum callosum, and a portion of his cerebellum that didn't form properly. His other diagnoses include: seizure disorder, MPA, FTT (gj Tube fed), growth hormone deficiency (pituitary dwarfism), sensory issues, impulse control disorder, "off the charts" ADHD. He is suspected, but not confirmed to have: meckels diverticulum, selective mutism, OCD, pica, gastroparesis/ psuedo obstruction, vomitous continuous (ha-ha, I made that one up, because I swear it's a real thing. ) He likes watermelon, carrots water and broccoli, (pretty much the foods with no calories) and only eats by mouth a few times a month. He loves cars and trains and would probably watch them all day if we let him. He finds creative ways of communicating to us all the time. He is in alternative kindergarten this year. His teacher says he is the class clown, and they can't get him to stop swatting at all of the female teacher's butts. You may have seen us at primaries or at various IHC Instacares before. He is the bright blue-eyed dwarf that that likes to take his clothes off and go streaking. That's our Luke, we love the craziness and joy he blesses our home with.


Love sent from,

Jaime and Jeff LeFevre

October Spotlight - UATP / CReATE

The Utah Assistive Technology Program (www.uatpat.org) is a nonprofit serving all ages and disabilities in the state of Utah, helping people with disabilities become more independent through acquiring and learning to use assistive technology. Trainings, funding programs, device repair and maintenance, and device reutilization are services offered to families of people with disabilities, professionals and caregivers. Learn more about financing options at www.uatf.org, and check out our archived webinars on a variety of AT topics at www.youtube.com/utahATprogram.

CReATE (www.createutah.org) is an initiative of UATP, and helps people with mobility needs get low-cost wheelchairs and scooters. The process is low-red tape and professional evaluations make sure individuals get the wheelchair that fits their needs. Donations of devices are also welcome! Get that unused wheelchair out of the basement by donating it to CReATE, where it will be refurbished and matched to someone in need.

Christmas Is Coming - Participate in the Empty Stocking Fund!

This holiday season, dozens of families living in Utah will be going without.  These families have special needs children, and often have circumstances that make providing a nice Christmas difficult for them.  If you have the means and the desire to help, please do!  The links below will provide you with the proper forms to sponsor a family...or let us know that you are a family in need.

TO SPONSOR A FAMILY:
Sponsor A Needy Family - Application Form


IF YOU ARE A MEMBER OF UTAH KIDS FOUNDATION AND ARE IN NEED THIS HOLIDAY SEASON, FILL-OUT THE FORM BELOW:
Needy Family - Application Form

(DEADLINE FOR NEEDY FAMILIES TO APPLY - OCTOBER 30th)


TO JOIN UTAH KIDS DISCUSSION GROUP ON FACEBOOK, FOLLOW THIS LINK:
Utah Kids Foundation Discussion Group on Facebook

All Hallows Eve - Trunk or Treat

Meet Brianna - Our October Utah Kid of the Month

Brianna was born with Spina Bifida, club feet and hydrocephalus. She came into our lives when she was just 18 days old. There were many challenges and surgeries along the way. Due to this she developed Oppositional Defiance Disorder (ODD) and that has been one of our greatest struggles yet. At age 6 we made the difficult (but necessary) decision to have her feet amputated. While this has actually improved Brianna's mobility it was a difficult step to take in life. She has also struggled with the decision that we made 3 years ago to have a port put into her belly button to make intermittent cathing easier. She was in surgery 17 hrs, 3 days in ICU and 7 more days in the hospital. Brianna resents having it done and it really triggers her ODD. She is a brilliant girl and I know she will do great things in her lifetime. We just need to get through the day to day struggles we have today.8

Lehi Roller Mills Fundraiser

September Spotlight - Dandy Walker Syndrome (Ella Pauline Dignan)

Ella Pauline Dignan was born on June 22, 2012, and spent the following 4 days in NICU. She was born with Dandy Walker Syndrome and Hydrocephalus. Ella's parents were told by the doctors that Ella would not crawl, walk or talk. They told them that the moment she was born, she would have to have brain surgery. Little did the doctors know, Ella would beat these odds.

Ella was living a normal life, until she was 4 months old. At this time, Ella started to scream and cry for very long periods of time. She was crying as if she were in pain. In the middle of November 2012, she screamed for literally hours. It was then that Ella's parents decided to take her to the hospital because they knew something was seriously wrong. She was rushed to Primary Children's Emergency Room. They performed a CT scan and found that the fluid that was on the back of Ella's brain, had spread to the top of her brain and that she needed emergency surgery.

The next day, Ella's mother Angela had to do one of the hardest things a mother has to do, hand over her baby for surgery. Ella had a VP Shunt placed on the right side of her brain. She did well with the shunt and it helped Ella a lot with her pain.

Heart Murmur
The next month, on December 17th, 2012, Ella was taken into surgery to place a PDA Heart Device in her due to a heart murmur. This was a very serious issue and a serious surgery, and thankfully was taken care of with no complications. The murmur was unrelated to the problems with her brain. Little Ella had already had 2 tough surgeries before she was 6 months old.

Dandy Walker Syndrome
Ella was placed into an Early Intervention service provided by the school Kauri Sue Hamilton at 10 weeks old. An occupational therapist worked with her twice a week to work with her on meeting milestones. The condition made it hard for her to learn and be able to do as many physical tasks as other children her age.

In September of 2013, Ella started to act lethargic, and then vomit. However, after she would vomit, she would be perfectly fine again, and seem to have nothing wrong with her.

From September to January, Ella's parents took her to Primary Children’s ER seven separate times with the same symptoms. Her mom turned to a group of people who also suffer from Dandy Walker Syndrome that had a group on Facebook for help, asking them if they had ever experienced these symptoms as well. She was advised to read the CT scans that were done at every visit to the ER. From reading the CT scans, she noticed that they all said that she had a slit like ventricles. She researched this and found that it was an over drainage of her shunt.

Another surgery...
Ella's parents took her to the neurologist, and the doctor suggested removing the shunt, placing a drain in her brain to try and figure out what pressure the shunt should be at to drain the fluid properly without complications. After they figured out what pressure the shunt needed to be at, they would put in a programmable shunt, meaning that they could change the amount of pressure at any time it needed adjusting.

The surgery was done on February 24th, 2013. They removed her shunt and placed a tube in her that went from the top of her brain into a bag, so that the fluid on her brain could still be drained while they calculated what pressure the shunt drainage needed to be at. She had the drain connected to her brain for three days. She couldn’t move freely while she was connected to the drain, and if she wanted to get down and play, the nurses would have to unhook her from the machines that kept track of her vitals. Those three days were some of the toughest, because her parents had to watch their baby not be able to move around.

The doctor finally found the pressure that would suit her best, and decided to remove the drain and on February 27th, 2013. Ella was holding on to her mommy so tight as she went down a hall on a hospital bed with her. They arrived to the surgery area, this was the big surgery. They gave her some medicine to put her to sleep. They said she would be in surgery for 1.5 hours. As they waited Ella's mom cried the whole time, a receptionist came up to her and asked if she could pray for us. She started crying with Angela. Angela was called back to see Ella in recovery. It was the hardest thing she had ever had to face.

Seeing her child trying to wake up and having all these places on her head and belly that they had to cut into to put the shunt in. Ella's parents stayed at the hospital for one more night. The next day Ella was up walking. For the next week after surgery it was like they had a new daughter! She has never talked and she started saying a few words, she had so much energy she danced with her older brother!

Little Ella has been through a lot of surgeries, ER visits, and multiple doctor visits due to this rare disease.

Dandy Walker Day!
A few months ago Angela had noticed that other Dandy Walker Parents had been sending in letters to get May proclaimed as Dandy Walker Awareness Month. In Utah this had not been recognized. As a parent of a Dandy Walker Child she wanted to get May proclaimed as well in our state.

She prepared a letter to Governor Gary Herbert, and mailed it to his office. A few weeks had passed by when she received a letter in the mail from his office. As she opened the letter in anticipation of it being approved, it was denied. The Capital of Utah decided that Dandy Walker was a part of Rare Disease day. Even though it had been denied she was determined to keep trying every year to get it approved.

One day she went to get her mail, and noticed a letter from Governor Herbert’s office. As she opened the letter she knew it had to be a letter explaining the denial further. She started reading the letter, the Capital changed their minds and approved Dandy Walker to be noticed in Utah one day out of May.

She received a certificate of declaring May 11th 2014 as Dandy Walker Awareness day.

We are thankful that the state has allowed us to recognize this day as Dandy Walker Awareness Day.

A journey ended too soon...

On Saturday June 28th, 2014, in the early morning, Ella earned her angel wings and is now with her Savior Jesus. Ella's heart had fought a hard battle her whole life. Ella passed away from Dandy Walker Malformation.

For more information on Dandy Walker Syndrome, please visit:
http://www.dandy-walker.org/



Thank you,

Angela Dignan

Meet Dominik - Our September Kid of the Month

Dominik had a rough start in life. While in the care of his birth mother at 4 months old he began to have nonstop seizure activity. He was rushed to Primary where they ended up putting him into a medically induced coma while they tried to figure out what was going on. Dominik stayed in the coma for 3 months until they could finally get the right balance of medications to stop the seizure activity. No cause was ever discovered and due to the massive amount of seizures he had there was some brain damage. We came into his life right when they brought him out of the coma and did foster to adopt for him and his twin brother. At this point Dominik has had no further seizures since February of 2009 and is off ALL medications. He is developmentally delayed by about a year and we are hoping they can figure out some kind of diagnosis since the education system expects there to be one by age 8

August Spotlight - KBG Testing

To say our world is evolving and in a constant state of flux would be a fair and yet, gentile statement. Reality is: we are learning so much more about our son's condition and new diagnosis we hardly have the chance to blink for fear we will miss something.

After 9 years of no tangible diagnosis, only broad descriptive and disappointingly vague terms that no one in a business world would accept as factual and actionable, we got the first really big break. His previous diagnoses include: generalized seizure disorder, autism, intractable epilepsy, idiopathic epilepsy, cyclic vomiting syndrome, anisocoria and then...a clue. When he finally had a lumbar puncture, after three years of asking for one, and got a clean cerebral spinal fluid sample, we found he had low levels of 5-MTH. 5-MTH is a major neurotransmitter and key to many fluid functions ofthe brain. That led to another finding: Folate Reductase Autoantibody. Turns out, the Folate Reductase Autoantibody is found in up to 70% of people with Autism. A shocking number for a non-standard test. We thought this was all we would know and we resigned ourselves to working within these two diagnosis.  But then we were blessed to be offered whole exome testing. It was an exciting time and we waited somewhat patiently forever. When we got the results, they revealed the newest and most basic of dragons to slay: KBG Syndrome.

It turns out that our son is only one of 65 known patients in the world. And of those 65 he is the ONLY one with an insertion in the gene and not a deletion or duplication. True to form, we looked for information, support, advocacy and treatment protocols. We found nothing of note. Nothing organized. We also disappointingly learned that KBG is treated symptom by symptom.

What does that mean? The bottom line is we are in for more of the same, more of what we are already doing,treating his seizures and anything else that creeps up. So, we have an answer but it seems the questions are randomly changing.

The medical world knows so much about KBG; the first written literature is over 40 years old. In that time, mice with KBG have been developed, antibody testing for KBG syndrome has been created and yet, it took us 9 years and a lot of heartache to find it. Why is that?

Because there is no real awareness about KBG, it is not a standard test, and there is no one organizing the patients and acting as a catalyst for sharing research information. Our history with struggling for answers led us to immediately declare that we would create an organization to help those known patients of KBG and the countless unknown. We are actively looking for patients and their families so we can better treat the Syndrome and more effectively improve quality of life. We know that there are many undiagnosed patients. Patients who want to put a name to the very recognizable face of KBG Syndrome. All KBG carriers and patients have facial features that are similar: large teeth, bushy eyebrows, slightly wide-set eyes and short neck. They are all short of stature and most often present with Autism as a first diagnosis as well as global developmental delay and cognitive deficiencies. A large number of patients have orthopedic issues including extra or missing set of ribs, hip dysplasia, scoliosis, short curved pinkies among other things.

KBG, for us, is still so new and so difficult to say out loud. It's surreal that we have a definitive direction with no real destination. We are missing the destination of this journey because no one is actively working on the cure. A cure, which could be as simple as replacing a missing protein, or as complicated as gene therapy. But until we identify more patients, we don't know which direction is the right direction to take.  So close, and yet…so very far to go.

The KBG Foundation is focused on identifying and unifying the patient population, providing support, awareness and advocacy as well as eventually helping to fund a cure. There is always a destination, sometimes you just need to load the bus and get on the road.

Annette Maughan

CEO/President

Epilepsy Association of Utah

(801)566-5949

annette@epilepsyut.org

Meet Emma - Our August Kid of the Month

Emma was diagnosed with Lissencephaly at 5 days old after having at least 21 seizures the day before. Lissencephaly is a rare genetic brain disorder, 1 in 100,000.

Children with Lissencephaly, which is also referred to as smooth brain, will experience significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation. Respiratory problems can also lead to a shortened life expectancy.

Affected children display severe psychomotor retardation, failure to thrive, seizures, muscle spasticity or hypotonia. Other symptoms may include unusual facial appearance, difficulty swallowing, and anomalies of the hands, fingers, or toes.

"Embrace Life" every second you can.

Here is a link to her blog and Facebook page.

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!

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.