31 for 21 Challenge: Day Fifteen. Unending Losses

I woke up this morning to read about another loss in the DS community.  A beautiful little girl, with a beautiful extra chromosome, was born in Idaho in May.  She, like so many, was born with a heart defect.  For four months, she lived a happy, healthy life.  In September, she began going into heart failure.  They performed surgery but she was unable to recover.  She passed away on Saturday, on Josiah's second birthday.

I wonder why some live, and some die.

My heart aches for the families who have said eternal goodbyes.

Today, like always, I am forever thankful for the lives of my children.  I am thankful for great doctors, good friends, and the best family a person could ask for.  I am thankful for this life I have been blessed to call my own.

RIP sweet angels.  Know that you are never forgotten.

 

 

Mother's Day 2013

On Mother's Day, like every other day, I am acutely aware of how blessed I truly am.  My husband is my best friend; our three boys, miracles.  We have happy, healthy, children.  Our needs are met.  We are, indeed, blessed.

When people learn about Josiah (and his Down syndrome), some say "I don't know how you do it."  When they learn about the prenatal diagnosis, "you must have been devastated."  When they learn of those early months and the heart issues - "that must have been awful."  These are not uncommon statements.  Matter of fact, they are quite commonplace amongst new friends.

Do what???  We simply raise our children.  We try to make the best lives possible for our family.  The prenatal diagnosis was not devastating, it pushed us to educate ourselves.  It pushed us to prepare in a way unlike with our first two boys.  We were not devastated; we were grateful for the knowledge and opportunity for growth.  The heart issues were not awful.  It was a serious issue that was fixed (with the amazing help of a few very special people).  Josiah's heart was changed from broken to whole.  The ending was anything but awful.

I don't think I do anything special.  Each day, C & I awake and do the best we can.  Sometimes we yell.  Sometimes we scream.  Sometimes we cry.  Sometimes we laugh.  Always, we protect and love each other and our children.  We go to doctor's appointments.  We juggle school and social commitments.  We try to balance stress and play.  We can't always afford to do the things we'd like but at the end of the day we are satisfied with all we have.  I am not special.  Our family is not extraordinary.

Let me tell you about someone that is extraordinary.  I shall simply call her J.

J lost a father during her vulnerable adolescent years.  Her Dad was 50.  She would complete High School and College, without the admiration of a father in the audience.  She would marry; a dear family friend would walk her down the aisle.  She would dance her first dance without her Daddy's arms.  She would have four children.  She would bury two: one at two weeks, the other at 50.

She would love her children unconditionally.  Her grandchildren would look forward to every moment shared.  She would always say "I love you" to her husband before he retired for the night.  She would hug first, and last.  She would make everyone who knows her, look at her with admiration.

Well into her 70's, J remembers what is important.  She remembers the Lord in everything she does.  She gives thanks for everything, and asks for nothing.  She sacrifices first.  She 'takes' last.  She is a true gift.  May she live for many years to come.

If I live until eternity, may I become half the mother (and woman) she has demonstrated herself to be.

Always remember: Live well.  Laugh often.  Hurt never.  Be grateful always.

I hope you had a wonderful Mother's Day.

Cardiology Follow Up

Josiah had open heart surgery on January 25th, 2012.  He was 3 months old. 

The brilliant surgeon closed 7 small holes (vsd's) & 1 very large hole (asd) in his heart.  He was suffering from pulmonary hypertension (half of Josiah's heart was much larger than the other half - caused from Josiah's heart beating "twice as hard" to keep the pressure 'normal') that could prove fatal if not addressed.  After surgery we were assured that the holes were closed, Josiah would recover, and the hypertension would likely resolve.

Josiah had a follow up with the cardiologist approximately 12 weeks after surgery.  The MD said "You would never know this child had had congenital heart disease."  It was suggested that we follow up at one year.

Well, we missed on the one year mark.  We did, however, prepare early Friday morning and headed for the long-overdue follow up with the cardiologist.  We arrived at 9:15, five minutes early.

Josiah received his normal EKG, without regard or incident.  He was weighed and measured.  The MD came in and immediately remarked as to how much Josiah has grown (I assumed, and hoped, that was a good thing).  Dr. P listened to Josiah's heart and asked if we thought he would tolerate a few pics (ie, an echo-cardiogram).  I said, "Sure."

As I dressed Josiah to wait for the technician to be available, I asked "are you worried about something?"  To my delight he replied, "No.  We haven't gotten pictures since right after the surgery.  This is just routine."  We went to the waiting room.  This Mama held onto her usual level of optimism (and hope that news would not be unexpected).

After what seemed like a long wait, we were finally called into the tech room.  I layed on the bed with Josiah trying to keep him distracted from the leads and jelly that covered his chest.  Amazingly, we were done about 20 minutes later.  We headed into the room to await the MD's return.

After a relatively short wait, the Dr. P returned.  Smiling, he announced "Josiah's heart looks perfect.  I don't need to see him for another couple of years."  Ahhh!!!  Music to this Mama's soul <3. 

As promised, the holes are closed; Josiah has recovered; The pulmonary hypertension is resolved.  My miracle boy has a perfect heart.

Thank you, God!

An Important Anniversary

One year ago, today, was a very important day.  January 25, 2012.  Josiah's rebirth...the day his broken heart was fixed.

Last year, we had learned of the many holes that were wreaking havoc in Josiah's heart.  We learned about his pulmonary hypertension (caused by the holes).  Josiah had undergone several tests and open heart surgery was necessary.  We had received the call on Friday, Jan 20th...pre-op Tuesday, open heart surgery on Wednesday.  Tuesday's pre-op happened without incident.  Wednesday, January 25th, was a long day. 

It started at 1:30am - we woke Josiah for his pre-surgery bath.  As I undressed him, I knew that his chest would never look the same again.  I remember feeling "he will be scarred for life."  It's not a good feeling for a Mom to have.  I took this picture of my little man.  He weighed 8lbs 7oz.  He was a mere 3.5 months old.

It was the most anal bath, I had ever dealt with.  We had been sent home with a bath sponge, soap, and directions.  It was important that we followed instructions as it would decrease the chance of infection.  We followed directions to a tee. 

At 2:00am, I was nursing him - we had a 3:00am cut-off time.  I wanted to be sure he had one last feeding before we left for the hospital.  Josiah ate and napped.

At 5:00am, we left for Children's, arriving at 6:15.  We were checked in by 6:45 and taken to pre-op.  At 7:50, Nurse Tom would do something very special.  He allowed us our hugs/kisses, wrapped Josiah in his favorite blanket, gave him his favorite stuffed animal, then CARRIED our little angel to the operating room.

At noon, we were meeting with the surgeon.  Josiah had successfully undergone open-heart surgery.  He was a little miracle. 

Josiah was in CICU immediately following the surgery.  There were tubes, machines, and the like.  Here are the pics I took of him there:

 

It's difficult to convey 'what I felt' then.  By reading my own blog, the memories come right back.  I remember things that had since been forgotten...the details...the little moments.  The play-back of time.

Here is the much anticipated scar that I so feared.  I remember hoping that as he grew, others wouldn't make fun of him for this scar.

Suffice it to say, Josiah did amazingly well.  Here is a picture of him taken two days after surgery.  It was January 27th.  Most of the tubes had been removed.  He was out of the CICU.  Recovery was amazing!!!

On January 29th, I wrote the following in my blog:

"Josiah woke at 1am for a weight check and feeding.  He's weighing in at 3.14k (down from 3.15 the night before).  Then he slept until 7am.  We woke to confirmation of today's planned discharge.  Carl is coming at 3pm to take us home.

Josiah had several feedings this morning, as well as a bath.  His final labs came back perfect.  He is healthy.  He is strong. 

I've returned a borrowed movie.  I will return this borrowed computer soon.  Our bags are packed.  We are ready to go home.  Josiah is enjoying his last nap here.

I reflect on the last week and I am amazed at where we stand now.  I am amazed at Josiah's strength.  I am in awe of our little heart hero.  I am star-struck over his determination and bravery.  What has transpired is nothing more than a miracle (and a whole lot of skill).  They have given us back our son.  I am thankful for everything the doctors have done.  I am thankful for broken hearts made whole.  I am thankful for a wonderful family, support network, and friends.

All the while, I can't ignore what we were not faced with.  My heart breaks for the children who don't go home.  I shed tears for the car seats that leave empty.  I am saddened by the empty cribs unable to embrace the children they were assembled for.  For so many, it is not the happy ending we are living.  For those, my prayers are with you.

I will never forget how precious life is.  I shall never take for granted the miracles we have been blessed with. 

Climbing Up the Down Staircase is an incredible journey!  For that, we are so fortunate."

This is a picture I took last night January 24th, 2013.  It is the one year later pic :).  It's hard to tell he even had surgery.  It is amazing!

And, this is Josiah - one year later.  Happy Anniversary, my little heart hero :)

                          

Current age: 15months

Current weight: 20lbs 12oz

Current height: 30.5 inches

Cute factor: 10

 

...forever grateful for the miracles in my life...

31 for 21 Blog Challenge: POST TWENTY FOUR: Health Considerations

Health Considerations

Besides having a distinct physical appearance, children with Down syndrome frequently have specific health-related problems. A lowered resistance to infection makes these children more prone to respiratory problems. Visual problems such as crossed eyes and far- or nearsightedness are common in individuals with Down syndrome, as are mild to moderate hearing loss and speech difficulty.  Approximately one third of babies born with Down syndrome have heart defects, most of which are now successfully correctable. Some individuals are born with gastrointestinal tract problems that can be surgically corrected.
Some people with Down syndrome also may have a condition known as Atlantoaxial Instability, a misalignment of the top two vertebrae of the neck. This condition makes these individuals more prone to injury if they participate in activities which overextend or flex the neck. Parents are urged to have their child examined by a physician to determine whether or not their child should be restricted from sports and activities which place stress on the neck. Although this misalignment is a potentially serious condition, proper diagnosis can help prevent serious injury.
Children with Down syndrome may have a tendency to become obese as they grow older. Besides having negative social implications, this weight gain threatens these individuals’ health and longevity. A supervised diet and exercise program may help reduce this problem.

Friday's Facts 060112: A New Parent's Checklist

This is a great checklist I found for new parents of a child with Down Syndrome.  It was written for parents living in the Pennsylvania area but has been edited, here, for people living in the Massachusetts area.

Newborn checklist

1. Contact the Down Syndrome Clinic at Boston Children's Hospital (857-218-4329) or Massachusetts General Hospital (617-643-8912).

2. Contact NDSS (National Down Syndrome Society) at 1-800-221-4602.

3. Contact MDSC (Massachusetts Down Syndrome Congress) at 1-800-664-MDSC.

4. Contact Early Intervention at 1-800-905-TIES or http://www.massfamilyties.org.  EI is a statewide, integrated, developmental service available to all families of children between birth and three years of age.  EI provides family-centered services that facilitate the developmental progress of children.
5. Apply for Social Security Income (1-800-772-1213) & Mass Health/Medicare (1-888-665-9993 or http://www.masshealth.gov).
         
          SSI is a federal program of the Social Security Administration that provides monthly cash benefits and automatic MassHealth coverage for a child with special medical needs.  Families with low to moderate income and limited resources may be eligible for SSI.  Families whose income or resources exceed the limits of MassHealth Standard may be eligible for Commonhealth.  Commonhealth is a state program that may charge a premium for MassHealth through a sliding fee based on income and family size.

6. Take a copy of the following to your pediatrician:
          1. The Down Syndrome Health care Guidelines (available at http://www.ndss.org)
          2. Contact info for the DS Clinic at BCH or MG
          3. Growth charts for children with Down Syndrome (available at http://www.ndss.org)

3-month checklist

1. Schedule an echocardiogram with a pediatric cardiologist.
          Babies with Down syndrome are sometimes born with heart defects. It is important to identify any cardiac issues as soon as possible so treatment options can be discussed.
          All babies with Down syndrome should have an echocardiogram by 3 months of age.
2. Schedule an appointment with a pediatric audiologist.
          The ability to hear affects the ability to speak, so it is important to have your baby’s hearing checked.
          Your child should receive a newborn hearing screen with an audiologist by 3 months of age (this is in addition to the newborn hearing screen that is routinely done before leaving the hospital). All babies should see an audiologist every 6 months until age 3 and then yearly.
3. Schedule an appointment with a pediatric ophthalmologist.
          All babies with Down syndrome should receive an ophthalmological evaluation by 6 months of age and then yearly.
4. Schedule a thyroid function test.
          Children with Down syndrome are at a higher risk of having abnormal thyroid levels, so it is important that your child’s thyroid levels be checked regularly.
          All babies with Down syndrome should have their thyroid levels tested at birth, at 6 months of age, at 1 year of age, and then yearly.

Friday's Facts 042012: Some Basic Statistics

Some basic statistics:

1.  Down Syndrome is also referred to as Trisomy 21.  It is caused by an extra 21st chromosome.

2.  It is named after John Langdon Down, a British physician who described the syndrome in 1866.

3.  Life expectancy for someone with Down Syndrome has increased from 12 years (in 1912) to 60 years.  *In March 2012, the Guiness Book of World Records website listed Joyce Greenman, now 87, of London, who was born on 3/14/1925, as the oldest living person with Down Syndrome.

4.  1 in 691 babies, overall, are born with Down Syndrome (0.12%)
     <1 in 1000 in women under the age of 30
     1 in 400 for women between the ages of 35-40
     1 in 110 for women over 40
     1 in 25 for women over 45

5.  88% of cases arise from the mother's chromosome 21; 8% arise for the father's chromosome 21; 2% from 'mitotic errors after fusion.'

6.  Translocation Down Syndrome occur in 4-5%.

7.  80% of Down Syndrome children are born to women under the age of 35 in the U.S.

8.  40-50% of children with Down Syndrome have cogenital heart defects in the U.S.

9.  Having Down Syndrome increases the risk of Leukemia 10-15% in the U.S.

10.  100% of people with Down Syndrome will develop physiological signs of Alzheimer's after the age of 35 in the U.S.

11.   In the U.S., it is referred to as "Down Syndrome."  In the U.K., it is referred to as "Downs Syndrome."

12.  66-89% of individuals with Down Syndrome have some level of hearing loss in at least one ear.

13.  The risk of pneumonia is 62 times higher than in non-Down Syndrome individuals.

14.  Seizures occur in 3-13% of individuals with Down Syndrome.

15.  There are more than 400,000 people living with Down Syndrome in the U.S.

Surgery was a SUCCESS

Josiah got his bath at 1:30am.  He got his last feeding from 2am-3am.  Then, he napped.  We left at 5am for the drive into Children's.  We arrived at the hospital parking garage at 6:15am and were checked in by 6:45am.  First stop, pre-op admitting.  We were escorted to the pre-op holding area.  Josiah was hungry by then.  Luckily, he recently discovered his thumb which was successful at pacifying him :)

At 7:50am, members of the team arrived.  Nurse Tom allowed us our hugs/kisses with Josiah then took him from me.  He immediately voiced a fondness for our little man.  Josiah was given an oral sedative and handled it like a trooper.  Nurse Tom wrapped Josiah in his favorite blanket, gave him his favorite stuffed animal, and CARRIED him to the O.R. (that made me smile).  Carl & I were escorted to the family waiting area.

The RN liaisons there are wonderful.  They made us comfortable, assured us that updates would be provided, and stayed in constant contact with us.  At 9am, the surgeon came in to introduce himself and explain the procedure.  The wait began.

The first call came around 10am.  Josiah had handled anesthesia well.  The incision had been made at 9:30am.  He was transferred to a heart/lung machine at 10am.  The transfer to machine went smoothly.  Josiah was stable and doing very well.  Carl & I walked around and tried to waste time.  We made our way back to the waiting room at 11am.  At 11:40, the second call came.  The repairs to the heart had been successfully completed.  He transferred smoothly off the heart/lung machine.  They were about to finish the procedure.  Josiah was stable and doing very well.  What great news!

At 12 noon, Dr. E. came in to speak with us.  The VSD was much larger than anyone predicted.  It was partially covered by a valve which is likely why it fooled us early on.  Dr. E. was able to move the valve, repair the hole, and gently slide the valve back into place.  The ASDs were numerous (about 5-6) and were all closed successfully.  They performed an echo cardiogram, which confirmed that repairs had been completed with great success.  The elevated pressure in his heart immediately registered as normal :)  Josiah is "ahead of schedule" in terms of stability and recovery - what great news this is!

He's being moved to ICU as I update this blog.  Within the hour, we will be able to see Josiah again.  We're trying to prepare for that first glimpse....pure ecstasy and, perhaps, a little heart break.  Josiah is on a breathing tube - I know that will be the hardest thing to see.  My heart is still leaping for joy that my little man has come through surgery without complication.  His heart is whole and is beating on it's own.

Josiah should be able to be removed from the breathing tube later today or tomorrow morning.  Then, he can start nursing again.  Expected stay 5-7 days.  We can't wait to bring him home.  I already miss the older boys :)

I can't thank you all enough for your kind words of support and encouragement.  We wouldn't have gotten through today without you!  It's a beautiful journey and I'm glad you're able to share it with us.

Off to ICU....I can't wait to see Josiah <3

Cardiology with unexpected results

Yesterday, I brought Josiah to the cardiologist for a routine evaluation. 

At 12 wks gestation, we learned that Josiah had a hole in his heart (ventricular septal defect (VSD)).  At wk 18 gestation, we were told that the hole had closed on it's own.  Just to be sure, we made an appt at an Advanced Fetal Care Center.  There, they performed another ultrasound and confirmed that no holes were present.  We were thrilled.

At birth, a heart murmur was detected but was gone the next day. 

Approximately 3 wks ago, the pediatrician detected the heart murmur again.  He referred us to the cardiology clinic affiliated with the Children's Hospital.  Given the previous ultrasounds and EKG's (which all looked good), we were not concerned.

As a side note, Josiah developed a respiratory infection about 10 days ago.  He was subsequently admitted to the Children's Hospital for one night.  There is an assumption of RSV, though he was never formally tested.

Yesterday, I took Josiah to his scheduled appointment with the cardiologist.  The MD noted the rapid breathing and chest congestion, not surprising given the respiratory infection.  They performed an echo cardiogram.  The MD read the results, came in, asked me a few questions.......then the three pieces of news.

1. The original hole (VSD) in Josiah's heart never fully closed.  They are able to see how large it was, the portion that his own tissue covered, and the hole that still remains.  I am told this is mild-moderate in size.

2.  Josiah also has an atrial septal defect (ASD).  I am told this is mild-moderate in size.

3.  Most concerning, the right side of Josiah's heart is quite enlarged.  The right side of the heart is the side responsible for pumping air to the lungs.  It is hoped that his heart has been working harder due to the respiratory infection.  If that proves true, the heart should decrease in size once the infection clears up.

The positives: Josiah has not fever, is eating well, sleeping well, and not sweating during feeds.  His oxygenation level is good (avg 97/98) and blood pressure is good.

Teary-eyed, I went to the pediatrician immediately afterwards.  Josiah was given a nebulizer treatment in the office, which seemed to improve his airflow.  We were given a nebulizer to bring home.  We will use this three times per day for the next ten days.

We have a follow up early next week with the pediatrician.

We have a follow up appointment scheduled at the Children's Hospital in two weeks.  They will perform another echo cardiogram and compare the two.  We are keeping our fingers crossed that a marked improvement will be evident.

“Fear can keep us up all night long, but faith makes one fine pillow.” - author unknown

MD visit and PT introduction

The last couple of weeks have been busy as we prepare for Christmas.  We completed our shopping tonight (we think).  Tomorrow is dedicated to baking desserts, then wrapping gifts.  Saturday is our annual Christmas Eve celebration with family, then xmas day :)  I said to Carl the other day, "Isn't there something magical about watching Christmas through the eyes of a child."  He agreed.

Josiah went to the MD on Tuesday for his official 2-month check up.  On our last appt (11/17), he weighed 7.10oz.  Tuesday, he weighed 9.14oz.  That's a 20oz weight gain in about 4 weeks.  The MD actually said he was "pleased" with the weight gain (we laughed previously as he's a bit of an alarmist, at times).  He's gaining sufficiently and he's primarily breastfed.  That's great news.

The MD did detect a heart murmur.  We're not really concerned about it.  While pregnant, they discovered that Josiah had a hole in his heart (a VSD).  Matter-of-fact, that was one of the first "red flags" to the DS.  A few weeks later, the hole had disappeared.  Just to be certain, we made an appt at the advanced fetal care center @ the Children's Hospital.  They spent about 2 hours examining Josiah's heart (in-utero).  They confirmed the absence of a hole.  They said that a tiny pinhole could still be possible, even though they couldn't see one.  The continued by saying that pinholes generally cause no problems and, more often than not, close over time.  The day Josiah was born, they detected a heart murmur.  However, 2 days later (upon discharge) the murmur was seemingly gone.  This was the first time the murmur could be heard again, since his birth.  We immediately connected with a cardiologist at Children's.  Josiah has an appt in January with cardiology.  We're already relieved due to the extensive examination he had while inutero.  We believe it can be no more than a pinhole.  It's just one more professional to be included on our growing team :)

On Wednesday, the EI PT came out to see Josiah.  She's confirmed he definitely has low tone, but primarily in the neck & trunk.  His arms and legs are good.  So, she will see him monthly (for now).  The EI worker will start seeing him weekly and, she too, will work to improve his muscle tone.  PT has assured us that she can increase to weekly visits, if they become warranted.  Josiah is a strong little boy....he'll get there :)

We are so blessed to have the team of professionals we have.  We love each and every one of them.  This is an amazing journey.  Next month we'll meet the cardiologist & schedule Josiah's new baby visit at the DS clinic.  In the meanwhile, xmas is in three days....a four year old, a two year old, and 10-week old Josiah - it doesn't get any better than this.

Happy Holidays to all!

Some good news & Intro to Boston Children's

June 13, 2011:  Third ultrasound revealed good news.  The VSD had healed.  Josiah no longer had the hole in his heart. 

June 15, 2011:  We attended our first appt at the Advanced Fetal Care Center @ Boston Children's Hospital.  Good news confirmed: the VSD had healed.  Josiah's heart was fine.  We met with the Director of the Down Syndrome Clinic.  They have a great program.  Josiah will be in great hands.

August, 2011:  2nd appt at Children's.  All is well.  Now, we wait for Josiah to be born.

The beginning

February 12, 2011:  2 home pregnancy tests yielded positive results. 

February 14, 2011:  MD appt confirmed we were pregnant with our third child.  This pregnancy was quickly reminiscent of the first two (both boys) - no cravings, no morning sickness, etc. 

We had our routine 12-week ultrasound and were told that there were certain "markers" indicative of Down Syndrome.  Specifically - there was an unusual thickness in the baby's neck & a hole in his heart (VSD).  Shortly thereafter, we completed the two routine blood tests; the risks increased.  We were told "It is more likely than not, that your baby has Down Syndrome." 

May 16, 2011:  At the 18-week ultrasound, we learned we were having a boy (whom we would name Josiah).  We also learned that there were additional markers (shorter arm/leg bones, smaller nose, etc).  Carl & I decided to have an amnio to confirm the suspicion.  The amnio was completed immediately.

May 18, 2011:  Our OB called.  The preliminary results were in.....it clearly showed the triple 21 chromosome.  It was official.  Josiah has Down Syndrome (Trisomy 21).