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

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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!