When The Holidays Aren't So Happy #sendkennytogrammy

Happy Holidays. Two simple words.  Depending upon who you are those two simple words can be associated with very different meanings.  Some people associate those words with people trying to remove God from our country, with people being offended by the phrase Merry Christmas.  For others it's simply a term of well wishes for the entire holiday season combined into one statement. A condensed version of have a wonderful Thanksgiving, Merry Christmas and Happy New Year.  For others it is a yearly reminder of the great loss that they experienced during what should be the happiest time of the year for families around the world. 

A few years ago I planned a surprise party for a dear friend's birthday.  We had balloons, food, the whole nine yards.  It. Was.  Perfect.  Until after the party when I found out that he didn't celebrate his birthday because his grandmother had passed away on his birthday years before.  I can't imagine suffering such a loss on a day that is intended to be celebrated every year.  A day that you can't become distracted and accidentally forget one year. 

Another one of my very dear friends is going through this same thing right now.  Her situation is slightly different.  Times have changed.  Life is harder now than it was in the past, especially around the holiday season.  She lives here in Mississippi and her grandmother is in Massachusetts.  She is not doing well at all and they are not sure how much longer she will be with them.  She has started a Go Fund Me account and, with the help of some very generous individuals, has raised a portion of the travel expenses necessary for her and her son to make the trip to Massachusetts to her grandmother's funeral. 

Writing this brings tears to my eyes for Fran and baby Kenny.  Not for the loss of her grandmother.  She has been very ill and I believe that their family has accepted this and is at peace with this.  It's more happy tears.  If Fran is able to make this trip baby Kenny will be able to meet his grandmother (Fran's mother) for the first time.  He is nearly 1 year old and has never been able to meet his grandmother in person.  I like to hope that in the future when Fran hears Happy Holidays that she will be reminded of the first time that her son met his grandmother and not of the year that she lost her grandmother.

If you would like to learn more about Fran and her family you can visit her personal blog here.
If you would like to consider making a donation to her Go Fund Me account you can do so by visiting here.
Please keep Fran and her family in your prayers during this time.  The loss of a family member during the holidays is especially hard. If you would like to leave any well wishes in the comments please do so and they will be passed on to the family. 

#sendkennytogrammy

September 6th - Sotos Syndrome Global Awareness Day

My pretty princess :)

 

 

I did not know that.  I woke up to posts in the Sotos Syndrome group that I follow saying that today is Sotos Awareness Day!  I didn't know we even had an awareness day.  I have touched on the subject of Sotos before but I'll go into a little more detail today. 

When Ainsley was a baby she grew, she grew so fast that I was buying new wardrobes every few weeks.  I assumed she was just going to be tall like Brandon and I.  She was sick.  I was told that was because of her CHD.  She had a big head, hands, feet and no hair.  I assumed she was going to look like her dad :)  All of that changed when we saw Dr Shann and he brought up Sotos Syndrome.  Like most people, I went home and immediately googled Sotos Syndrome.  I found a group on Facebook and joined it.  I spent days reading everything I could find that discussed Sotos Syndrome.  One day a family posted a photo of their child on the SS Facebook page.  I was shocked.  I stared at that photo for hours.  I couldn't believe that I was looking at a photo of Ainsley's twin.  I sent that photo to everyone I could think of...even Brandon and they all replied with how cute Ainsley was.  They didn't believe me, at first, when I told them that it wasn't Ains.  At that moment I was sure.  We hadn't received the results of the genetic testing but I knew, without a doubt, that we had finally found the answer we had been searching for.  Once again, my days were spent researching.

Sotos is rare.  Very rare.  I was shocked at how rare it really is.  1 in 10,000 - 14,000 rare.  I have a million dollar baby for more than 1 reason..

So, what is Sotos Syndrome?  I'm asked that nearly every week.  SS is a genetic conditions caused by a mutation or deletion of the NSD1 gene on Chromosome 5.  Simply put, it is caused by a change or absence of the NSD1 gene.  Ainsley has a mutation.  I have not read any reports showing this but from talking with other SS families it seems that children with a mutation do not have symptoms as severe as children with deletions.  SS can be hereditary.  Ainsley's children have a 50% chance of inheriting SS BUT the majority of cases are new cases.  Over 95% of cases have no family history of SS.  For some reason there is a change/deletion before birth and doctors are not sure why.  It is rare to find multiple cases in a single family, but it does happen. 

SS has very distinct features.  The child has a larger than normal head size, large protruding forehead, downward slanting eyes, pointed chin,  high hair line, less hair, large hands and feet.  They also grow at a very rapid rate.  Ains will be 3 in November and she is the same size as her brother, who is 6.  Her last bone age study showed she was advanced by about 2 years.  Her last measurements put her on the growth chart with the average 6 year old.  She is a big girl. 


People with Sotos Syndrome generally have intellectual impairments and behavioral problems.  Problems with speech are very common.  With Ainsley, we will not be aware of any major intellectual problems until she is older.  I, nor Dr Shann, currently suspect any.  Behavioral problems -- we have those.  She was recently diagnosed with PDD-NOS which is a form of autism.  She has violent meltdowns.  She had receptive and expressive speech delays.  I believe a lack of communication skills is the main cause of her meltdowns.  She is frustrated because she can't say what she is trying to say. 

Other signs of SS include scoliosis, seizures, heart defects, kidney defects, conductive hearing loss, and vision problems.  Ainsley currently does not have scoliosis.  She has febrile seizures but no seizure disorders.  She does have 2 heart defects, one of which has been repaired.  She is scanned yearly to check for kidney tumors and thankfully, each year there have been none.  She does not have hearing loss at this time and her vision is great.  She has muscle weakness in her eye that causes something similar to a lazy eye that we are able to treat with drops to strengthen the muscle. They are able to snip a muscle in her eye to straighten it up almost instantly but we didn't want to go that route.  The drops have helped drastically and if it bothers her when she is older I will let her make that decision.  I am a firm believer that there is risk in ALL medical procedures, no matter how small, and repairing a slight lazy eye is not worth the risk, to me.  She may feel differently when she is older. 

Some infants that have SS are jaundice at birth and have poor feeding.  Ainsley had both.  She spent a weekend at home on a bili light and got a very stern lecture from Dr Braden telling her to start eating better.  People think I am joking but after he fussed at her she drank an entire bottle and never fought bottle time again. 

A few people with Sotos have developed cancer but currently researchers are uncertain that SS causes an increased risk for cancer.  It is possible that it is just a coincidence that those people have SS and cancer. 

For our family, the SS diagnosis was a relief.  SS is not life threatening.  Ainsley doesn't seem to have any intellectual delays and should live a full and happy life with the ability to do anything she wants.  We have struggles and bad days but in the big picture they are nothing.  She is healthy, I don't worry any longer that she has a disease that will cut her life short. 

Sotos is a rare genetic condition.  I have never met anyone that was familiar with SS before we talked about it.  In honor of all of the children living with SS please take a moment today to tell just one person about Sotos Syndrome.  If more people were aware of SS we may not have had to wait a year to find out what was going on  with Ainsley. 

Be Aware

Our family is well aware that rare can be more common than you think.  Before Ainsley was diagnosed with Sotos Syndrome I was ignorant to the thousands of rare conditions that affect children every day.  Every new month brings new awareness campaigns.  The problem with this is that the campaigns receiving the most attention are the ones that most people are familiar with.  It is wonderful that so many people support these causes however, I would like to bring some attention to a few conditions that are not so popular.

September is National Childhood Cancer Awareness Month, National Food Safety Month, National Guide Dog Month, National Hispanic Heritage Month, National Honey Month, National Hydrocephalus Month, National Preparedness Month, National Suicide Month, Cranio-facial Awareness Month, Histocytosis Awareness Month, National Wilderness Month, National Prostate Awareness Month and Chiri Malformation Month. 

September is a busy month.  It is an excellent chance for us to take a few minutes to learn something new.  I have heard of most of the things listed above.  I was not aware of histocytosis or chiri malformation so I decided to do a little research and share what I learned. 

1 in 200,000 children are born in the US with histocytosis every year.  Histocytosis is a general naming of conditions that involve an abnormal increase in immune system cells.  It is mostly seen in children and the peak ages are 5-10 years old.   Histocytosis covers many different diseases.  Prognosis, treatment and follow up vary depending on which disease the person has. Some children live full lives while young children, especially infants, are more likely to experience body wide symptoms that result in death.

Chiri malformations are structural defects in the cerebellum, which is the portion of the brain that controls balance.  Chiri malformations affect females more than males and is believe to occur in 1 in 1000 births.  The rates are believed to be higher due to some people never developing symptoms therefore never being diagnosed. In most cases this condition develops while the child is in the womb but can also occasionally occur due to injury, infection and toxic chemical exposure.  There are 4 types of chiri malformations.  Type 1 is the most common while type 4 is extremely rare.  Treatment varies depending on the type of chiri malformation and symptoms.

Being a member of the rare disease family, I feel that we were blessed.  Ainsley has a higher rate of developing certain conditions but none of those are life threatening.  So many parents are thrown into this family out of the blue with outcomes much worse than Ainsley's worst case possibilities.  There are so many families that have lost their children to diseases that most of us have never heard of.  Increased awareness brings more attention to these conditions which results in additional funding, research and possibly a cure.  We never know when we will be thrown into the world of rare diseases. We all need to take a moment to say a prayer for all of the people affected by histocytosis diseases and chiri malformations.  We never know if or when these or another rare disease will find it's way into our lives.   If we were in the shoes of these parents we would do everything possible to make sure the world was aware and how to support finding a cure.

You can learn more about these and other rare diseases from the National Organization of Rare Diseases at www.rarediseases.org.  Let's all make a point to share awareness for 1 of these diseases with at least one person this month.

August - National Child Support Awarenss Month

Shout out to all of the dead beat dads (and moms) out there, it's National Child Support Awareness Month!

Since Ains was born and I was thrown into the world of rare illnesses, I have tried to do my part to bring awareness to her conditions.  Not many people know what Sotos Syndrome is or Congenital Heart Defects.  I can't help but be a little aggravated when I see the pink ribbons for breast cancer, the ice water challenge for ALS or wear red for heart disease.  Most everyone is aware of these conditions.  The conditions that have the least campaigns are the ones that need more attention, the ones that people have never heard of.  I suppose that everyone knows what breast cancer, ALS and heart disease are because of the awareness campaigns and because they are more common. But..I still get that feeling in my stomach when I hear $40 million was raised for one condition when nothing is being done for so many.  Now don't get me wrong, I'm not against awareness campaigns for more common, known issues, just a little jealous.

So, since the rest of America is covering ALS awareness at the moment here is a shout out the less publicized National Child Support Awareness Month.  I'm sure everyone knows what child support is but I learned some interesting facts.  Only about 50% of single parents have a child support order and only 45% of those parents actually receive the full awarded amount each month..if anything.  I would have never thought it was such a low number.  I know dead beat parents but I always thought they were largely outnumbered by responsible parents that paid support.

Children have no choice in being born.  Whether you are ready to be a parent or not is irrelevant.  If you are adult enough to make a baby, you are adult enough to support it.  And don't think that you have hit the lottery because you got pregnant by someone that's loaded.  Babies aren't lottery tickets.

Step up and do the right thing.  If you make a baby, take care of it.  Times may be hard right now but anything is better than nothing.  Don't let your kids grow up wondering why they never saw or heard from one of their parents. 


 

A Little History and Awareness

A little history on Ainsley and spreading a little awareness on a few things.

Ainsley was born at 37 weeks 5 days.  For the most part it was a smooth pregnancy with the exception of contractions starting a few months early.  We controlled that with BP meds and everything seemed to be going great.  I went in to the ER on 11/26 with pains that I thought were contractions.  The next morning I was induced to speed things along and we had an Ainsley.  7lbs 7 oz and 21 inches of bouncing baby girl.  Labor was fast, the fastest of the 3.  She was actually trying to make her appearance before the doctor got there.  When he arrived he realized the cord was around her neck and had a loose knot in it.  He thinks that happened during delivery and didn't cause any issues.  The only problem was her entire face was purple, not from lack of oxygen but because the labor was so fast and she hit my pelvis with such force that she was bruised.  She was still beautiful.  She passed her screenings and her Apgar scores we good.  She was a little jaundice but so were the other 2 so we expected it.  We were discharged the next day and life was grand.  Fast forward to her 3 day check up.  She wasn't eating, at least not enough to make me happy.  I was forcing an ounce in her every 4 hours and she was spitting up what seemed like 2 ounces.  I figured it was GERD since the boy kid had that when he was young and we went to a sensitive formula.  At her appointment they did the usual, weight, height, head circumference, looked her over and listened to her heart.  Then I heard: I hear a murmur, lets go do an echo.  Say what?! All I heard was there is something wrong with her heart.  At that point I was not aware of what a congenital heart defect is and how common they are.  CHD affects 1 in 100 children.  Some are severe and some are not so bad and don't really cause any issues for the children..they are just monitored.  The echo showed Ainsley had a PDA and an ASD.  Her doctor quickly told me that out of all of the heart defects she got the best 2 and not to worry because they could close on their own.  So, we head home for me to go straight to google and research.  Turns out the doctor was right.  Yeah, I needed google and WebMD to verify it for me.  1 week later we go back for a follow up echo to see if the openings had closed, they hadn't.  I mentioned that Ains had been running fever.  A CBC show a very high white count which resulted in hospital stay #1.  Turns out it was just a virus and a few days later we went home.  This was just the beginning. She was my first  true winter baby.  I knew we had to be careful and watch for cold, flu and RSV.  I did what we were suppose to.  No leaving the house before her first immunization, no sick people allowed over, limit the number of people visiting..i thought we would make it through the winter healthy.  Little did I know.  We spent the next several months in and out of the doctor's office and hospital. They kept saying that her heart defects were pulling her immune system down and we just had to make it to around 18-24 months to repair them.  I became the crazy paranoid mommy that calls the doctor's office with every sneeze, after all she was admitted every time I thought she had a cold so what normal mother wouldn't go off the deep end.  Fast forward to May. Ains has a fever and now breaks out in huge red blotches over her entire body every time she has a bottle. We went through latex allergies and allergies to every formula before we decided it wasn't an allergy.  Trying to keep her out of the hospital she got Rocephin shots 3 times that week. I've had many and they hurt like hell.  Her white count was over 20.  That normally means a bacterial infection (that's what we were told).  We did manage to avoid being admitted.  I kept telling them something was wrong and they kept saying it was just due to her heart.  A few weeks later..sick again.  We called and got a work in appointment.  We have 1 pediatrician office.  I'm not sure if it was due to a lack of doctors or organization skills but work in appointment meant coming in at your appointment time and waiting for 3-4 hours to see a doctor.  I gave Ains Motrin and we went to the appointment.  About 4 hours later we were finally called back. As we sat in the room Ains drank a bottle and when she finished she went limp.  She wouldn't respond.  She was just laying in my arms.  I ran into the hall with her and started yelling for a nurse.  One came and took her and yelled for a doctor.  2 came in.  By this time she was blue and shaking.  I was crying.  One called for meds that they didn't have and they had to debate over which meds they had that they could give her.  The other yelled for a crash cart and to call an ambulance.  I'm balling and cant think...all I see is my baby laying there blue.  They hooked her to a pulse ox machine and it registered at 60.  He kept telling me it was ok and that she was getting enough oxygen. The other doctor gave her Valium to stop the seizure.  After 10 minutes it hadn't stopped and they gave her more.  She was just laying there grunting and not responding.  By this time my husband had arrived and a few minutes later the ambulance did.  When we got to the ER her temperature was 104.  After tests it was determined that she had a febrile seizure due to another virus.  She was admitted for observation.  While we were admitted a new doctor made rounds.  He told us we were being discharged and that she just had ANOTHER virus.  He was walking out and I told him that something was wrong.  She didn't roll over or sit up.  She choked every time I tried to give her baby food.  She was always hungry, she was eating 16 ounces every 4 hours. She was always sick...something was wrong and it wasn't all her heart.  He looked her over and said that he believed she had Sotos Syndrome and wanted to send us for genetic testing.  Hello, our new pediatrician.  We moved to his office immediately.  We started physical therapy and test after test after test.  A few months later we had our results..Sotos Syndrome - a very rare genetic condition that no one has ever heard of.  Sotos Syndrome aka cerebral gigantism, is caused by a mutation or deletion of the NSD1 gene.  It causes children to grow at an unbelievable rate, large hands, feet and head size, and many associated conditions like kidney defects, conductive hearing loss,  heart defects and autism spectrum disorders.  So far Ains hasn't had any kidney or hearing issues. We are tested yearly as a preventative measure.  We finally had a name...with a name we knew what we up against and we could kick its ass.  We saw specialist after specialist. It's good that I did my homework on Sotos because the doctors had never heard of it so I spent a lot of time explaining to them what it was.  Ains is currently almost 3.  She is a couple of inches and pounds smaller than her 6 year old brother, she is the size of the average 6 year old.  Recently she was diagnosed with PDD-NOS which is on the autistic spectrum.  She has major meltdowns daily.  That combined with the regular terrible two's can be a challenge.  She has a high tolerance to pain and hurts herself and others during her meltdowns.  She is always covered in bruises..I am too.  We are working on regulating her medication so that hopefully we can get the meltdowns under control.  She is miserable during them..she doesn't process changes in her routine very well and does not like loud noises or crowds.  We deal with people's judgmental looks and comments often.  People love to tell me that if I don't get her under control now that I never will or that if I spank her she will stop throwing "fits" when she doesn't get her way.  Most people know what Autism is but they associate it with children that have severe disabilities that you can see...they don't understand that a child that appears to be healthy on the outside can have this.  They are quick to judge me as a bad parent or a parent that "spoils" their kids therefore creating an attitude in her that she gets what she wants when she falls on the floor kicking and screaming.  I've learned a lot in the past 3 years.  I've learned about CHD's, Sotos Syndrome and Autism.  I've learned you really cant judge a book by its cover.  I've learned what true fear and worry is.  I've learned that as unfair as it is, young children can be taken away from you by horrible illnesses/diseases in the blink of an eye.  I've learned that no matter how much you love your doctor that they can miss things and if they aren't listening to you that you need to go somewhere else. I've learned that life isn't always easy or fun but it's worth it.  I've learned that when you have a sick child that you are never truly at ease and the worry of what might happen never goes away.  I've learned to be more patient.  I've learned that finding groups of other parents going through exactly what you are going through is a life saver.  I've learned to listen to advise from other parents and I've learned that its up to parents to bring awareness to the conditions that their children have.  Awareness results in funding which results in research which results in more treatments.  If more people were aware of Sotos Syndrome it may not have taken a year for us to find out what was going on with Ainsley.