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

Friday, July 31, 2015

BE THE AWARENESS- a rare series. Paisley's story- Alagille syndrome

"Paisley is in the biggest fight of her life.  She truly shines with her own light.  Just as in Matthew 21:22 says "And all things you ask in prayer, believing, you will receive".  We continue to do just that, believing in prayer, asking God for a miracle, for him to wrap Paisley in his arms and carry her through this blessing with complete healing and restoration"  --Courtney Walter, Paisley's mommy

Meet Paisley, our first story in our rare series!  Paisley has Alagille syndrome.  Alagille syndrome is a very rare syndrome, affecting 1/70,000 newborns.  The syndrome can affect many body parts including the liver, heart and lungs.  Paisley was born in September of 2014, and had her first open heart surgery at 5 weeks old.  Paisley is a beautiful happy little baby and I very much enjoyed getting to spend this time with her!!

Alagille syndrome:
-affects liver, heart, lungs and other parts of the body
-1/70,000 newborns
-50-70% of cases are new genetic mutations, 30-50% of cases inherit a gene from one parent
-often diagnosed on liver function, or a heart defect like tetralogy of Fallot
-symptoms have a wide range, from mild to severe
-distinctive facial features
-may effect growth

Here are a few links for more information on Alagille syndrome:

Alagille syndrome

Alagille syndrome - CHOP

Other links:

Global genes org

National organization for rare disease

Here is Paisley's story, told by her mom Courtney:

In May 2014 we found out we were pregnant.  At 20 weeks after a sonogram we found out we were having a girl, but with that we were also told they found cysts on her kidneys. I was extremely nervous and scared because at that point we didnt fully know the extent of her problems.  A week later I was sent for a second opinion in York where they also confirmed the cysts on her kidneys but they also noticed abnormalities with her heart, being also being small in size for gestational age.  It was confirmed she had what is called Tetrology of Fallot.  Genetic testing was suggested for both she and I, although she could not be tested till she was born.  Testing revealed I had a rare genetic disorder called Alagille syndrome.  We were then transferred to University of Maryland for the rest of my pregnancy care.  on Sept. 29, 2014 I was admitted to University of Maryland Hospital due to pre-eclampsia.  On Sept. 30, 2014 via c-section at 10:11am my 4 lb 3 oz, 17 in. long beautiful baby girl Paisley Mae Topper was born.  She was taken immediately to the NICU.  TOF babies are also known as blue babies due to the tint or blue complexion of their skin from the lack of oxygen in the blood.  At this point Paisley's Oxygen sats were running in the 70 percents.  She was too small for any surgical intervention.  Genetic testing on Paisley revealed she too had Alagille syndrome which many doctors are unfamiliar with due to it's rarity of 1 in 70,000 occurrences.  At 3.5 weeks old Paisley was transferred to Penn State Hershey's Children's Hospital to be closer to family.  On November 5, 2014 2 weeks after arriving at Hershey, Paisley had her first open heart surgery at 5 lbs and 5 weeks old.  They placed a patch on her pulmonary artery in hopes that it would grow and further down the road a full repair of her heart could be done.  She remained in the hospital for another 2 1/2 weeks, 5 days before she would turn 2 months old.  She would continue to be followed by Hershey's team of doctors and later would be seen and followed by Childrens Hospital of Philadelphia, or CHOP.  CHOP is one of the best in the world in knowledge and specializing in Alagille syndrome.  Paisley was set up at 7 mo. old for a feeding tube to be placed to assist her in gaining weight and growing.  Prior to that she would need to be cleared for surgery by her cardiologist.  During her Cardiologist appointment Paisley's Oxygen saturation's dropped down in the 80 percents.  They performed an echocardiogram where they found a blockage within the pulmonary artery of the heart.  Paisley's feeding tube surgery was placed on hold and a heart catheterization was scheduled for July 16, 2015 to see what they could do.  During the heart catheterization Paisley was noted to have an extremely small pulmonary artery along with all the major blood vessels and arteries throughout her heart and lungs.  The doctor came out of her heart cath to inform us of the findings while Paisley was in recovery and told us they could not do anything more for her and that her only hope was a heart and lung transplant but due to her Alagille's diagnosis she may not qualify to be put on the transplant list.  As soon as the doctor told me the news I started crying and was so devistated to the point I could not speak.  We are now waiting to hear what our next step will be.  Paisley may be small for her age, but she is just like any other 10 month old, ornery as ever.  She's such a happy baby.  She loves mini mouse club house and loves to eat, she wants what everyone else has and isn't afraid to make it known.  Paisley is in the biggest fight of her life.  She truly shines with her own light.  Just as in Matthew 21:22 says "And all things you ask in prayer, believing, you will receive".  We continue to do just that believing in prayer asking God for a miracle, for him to wrap Paisley in his arms and carry her through this, blessing her with complete healing and restoration.  

--Courtney Walter, Paisley's mommy
click here to go to Paisley's GO FUND ME page

Thursday, July 30, 2015

My mom is finishing her Breast Cancer treatment! Early detection saves lives!!

Last November my mother was diagnosed with bilateral stage 2 cancer and had a double lumpectomy.  Her Chemo started shortly after that (the day before Christmas eve) and then was followed up with radiation therapy 5 days a week!  She will have many follow up appointments, and she will never be free from worry, but her treatment is over and she is onto the next stage of life!  Please share her message with your loved ones "GET YOUR MAMMOGRAMS!!!".  Her routine mammogram found cancer in one side, followed by an MRI that found it in the opposite breast!  NO LUMPS!  Her mammogram saved her!

CONGRATS momma!  Love you!

Monday, July 27, 2015


I have been MIA from the photography scene, for the most part, aside from a few photo sessions here and there.  Why??  Because of this beautiful baby below... 

Sophia has changed my priorities and shown me a world I may have never known.  Sophia was born with a very rare syndrome.  It has been a journey!

In honer of Sophia, and the "awakening" she has caused in me, I am doing a series titled "BE THE AWARNESS- a rare series".  This series will showcase babies and children with rare disorders, that have a journey to share and awareness to spread.

Do you know someone with a rare journey to share??  Please have them contact me!  If they are chosen to be a part of this series they will get free images from Carrie Wren Photography and awareness for their cause!!

Sophia's journey and rare syndrome will be shared in this series also, but first, we will start with this little beauty (below) and her story.... coming soon!

Friday, August 2, 2013

Saturday, May 25, 2013

Look at this Beautiful baby bump and family I had the pleasure of photographing!