Saturday, August 29, 2015

PLEASE READ AND SHARE!!!!! ---Sophia's story -- IMAGe syndrome (Adrenal insufficiency, skeletal dysplasia) BE THE AWARENESS- a rare series

"We need awareness for rare diseases.  We need awareness for Adrenal insuffiency! But more than anything we need acceptance, we all have quirks.  Embrace what is unique!!" 

IMAGe syndrome:

-Very rare, articles state there have been 20-26 cases.  (sidenote from Carrie: I believe there are more, just not diagnosed correctly.  As people and genetics teams become aware of IMAGe, more people will get correct diagnosis and lead to spikes in this number!  Also this does not include babies born after 2012-2013)

-IMAGe is an acronym:

I- Intrauterine growth restriction (IUGR) baby grows slowly before birth
M-Metaphyseal Dysplasia

A-Adrenal Hypoplasia Congenitia 
GGenital abnormalities in males                           
the "e" was just thrown on there to be fancy and make a word 

-IUGR causes baby to grow slowly before birth

-Metaphyseal dysplasia effects the ends of the long bones, and can cause the rest of the bone to be thin.  IMAGe can also cause scoliosis of the spine. (Sidenote from Carrie: Sophia's doctor describes her as having Primordial dwarfism since she is small in all stages of life beginning from before birth.)

-Adrenal Hypoplasia (under development of the adrenal glands) is a very rare form of Adrenal insuffiency (AI).  Usually infants present with an adrenal crisis soon after birth that leads to their AI diagnosis.  Adrenal crisis is life threatening and a constant concern with someone with AI.

-People with AI are dependent on steroidal hormone replacement.

-In the case of emergency, someone with AI needs immediate injection with life saving steroids.  Without this they can not trigger their "fight or flight" response that keeps them from going into shock.

-many with AI, including Sophia, "salt waste".  Salt wasters deplete their sodium through peeing and sweating.  Most people with AI need electrolyte replacement, and all need close monitoring of electrolytes (among other things)

-Adrenal insufficency is usually the most serious component of IMAGe requiring close supervision by endocrinologist and daily medication/replacement steroids.

-Hypercalcemia can be seen.  (Sophia did experience that.  I can not find a good explanation for this.)

-Is caused by a misprint on the CDKN1C gene.  CDKN1C, when functioning correctly, helps the body to inhibit tumor growth.  In an overactive CDKN1C it inhibits their growth, their adrenals growth, and target tissues.  --interestingly enough, an underactive CDKN1C causes an overgrowth syndrome!

-IMAGe can be inherited from both mom and dad, although if it is inherited from the father no symptoms are present and it is expressed as a carrier gene.  If passed from the mother the child will get the syndrome itself.  If you carry this gene, whether it is expressed as the syndrome or just the carrier gene, there is a 50/50 chance for each offspring have the gene also.

There are varying degree's of IMAGe.  There are quite a few other features not mentioned above.  To read more about IMAGe syndrome, see these links!!

IMAGe link

IMAGe link

other links

Adrenal Insuffiency United

Global genes org

National organization for rare disease

Sophia's story:

Most pregnant couples are excited to find out if they are having a boy or a girl during that "anatomy scan", as were we.  We had a gender party planned for the next morning.  My husband and I prepped, and headed for our scan, after of course chugging down a can of Dr. Pepper to "get the baby moving" so we could see his/her gender.  What we found out that day changed our lives forever.  If you would like more details on our pregnancy journey, you can read that story HERE --I had considered blogging her journey, but having a tiny newborn with AI was enough to keep together at the time!  

The whole pregnancy was monitored by our local team, and by Childrens Hospital of Philadelphia (CHOP).  Towards the end we were going into the Maternal Fetal Medicine practice 2-3 times a week for a weekly ultrasound and 2-3 stress tests/week.  One of these weeks, I had tried to cancel an ultrasound due to Bronchitis that swept through the family, but my MFM insisted I come in, thankfully!  At 33 weeks pregnant, my fluids were low, not measurable.

Sophia was born on May 13th, 2014 by emergency C section at 2 lbs, 12 oz and 14.5 inches long... and she breathed!  SHE BREATHED!  We were told she may not "expand her lungs" so her breathing was all I needed to get me through the crazy months ahead!!

The first year was crazy, starting with a 6 week NICU stay.  Sophia was discharged at 4 lbs, just a tiny thing!  The next few weeks were filled with so so many specialist appointments.  Sophia has doctors at Penn State Hershey Med center, and A.I. Dupont (Nemours) hospital, as well as her local ped, and a few other doctor's we've consulted in various locations.  It was a whirlwind at first!  It became our "norm"

Now, her care is routine.  She has several "medtimes" a day.  If she gets sick she needs more steroids (stress doses), or if she hurts herself badly, or is in an accident she needs injected with life saving solucortef.  We monitor for Cortisol lows, glucose lows and electrolyte imbalances.  The pharmacy knows us well, and the local labs do also.  It is our life now, and I would not change it for a thing!

Above all though, we are a family with a little sister who loves toys and ice cream!  Sophia's has a pretty normal life, and if monitored and treated properly, we hope to have very minimal speed bumps. She is a very strong little girl.  She inspires us!

Sophia has been such a blessing to our family.  She has taught us so much, lessons we may have never otherwise known.  She is a happy, sweet, clever, beautiful, bright eyed little darling. She brings a smile to everyone she meets!

When I was pregnant a sweet mother wrote to me "One day you will look back and wish you hadnt ever cried one tear over that baby" (words she passed down that someone had said to her) --and she was so very right.  So right.  wasted tears.  Sophia is perfect.  Absolutely perfect. 

We need awareness for rare diseases.  We need awareness for Adrenal insuffiency! But more than anything we need acceptance, we all have quirks.  Embrace what is unique!!  

Please share this story, especially to EMT's, paramedics and emergency personel!  The biggest fear with Adrenal insufficiency is emergency responders not knowing how serious immediate treatment is for AI!  There is only a short window of time to be injected with life saving steroids before the patient will go into adrenal crisis with shock like symptoms.  Links on Adrenal insufficiency below, AWARENESS SAVES LIVES!!

Adrenal Insufficiency

Sophia's facebook friends

Update 10-2016  This past year has been a good one for Sophia.  She has been pretty healthy aside from a near crisis event with a blood sugar of 30, and a GI bug that forced us to give our first emergency injection and spend the night at hershey.  She is growing at a decent rate and at 28 months was about 16.5 lbs and 27 inches long.  Her sodium has been fairly easy to manage this year.  Sophia started walking right around two years old and hasnt stopped since.  She climbs and runs and does not let anything stop her or slow her down.  She loves art, peppa pig and sensory boxes.  Her foot is almost fitting into a shoe size 2.  She takes her meds like a pro, swallowing two at a time better than I do as an adult.  She is so sweet and wonderful and loved!