I have loved deeply in my life. The Love of Christ in my life is the deepest love I have experienced. I accepted Christ at twelve years of age. As a little girl our family would take long road trips to visit family and my parents would always put on Christian Music during our trips. I remember sitting in the back seat of our little Toyota with tears rolling down my cheeks because I was so moved by the music and the lyrics. I remember feeling embarrassed and hoping that no one would see the tears. It was there that my relationship with Christ began. Through the years the love for my Father in Heaven has grown deeper roots which have allowed me to love my family and friends with the love that I have received from Heaven.
My husband and I will be married for 30 years this December. We have weathered many storms in life that would take most marriages out; but, because of our love and commitment toward each other our marriage is stronger than it has ever been. I believe one day I’ll be able to write a book on “Enduring Love Through the Storms of Life.”
Rudy and I have two beautiful daughters who are young women now. The love for our children has taught us all about unconditional love. Our family isn’t perfect by any means, we have had a lot of issues to deal with, but one thing that is strong and we can always come back to is the unconditional love we have for each other. I credit my children for my deep prayer life because they keep me on my knees.
Even with all the love I shared about above, still another LOVE came into our home. Our granddaughter Hannah-Rose taught us about love in the purest form. She was such a special gift from Heaven, she was perfect in every way despite the fact that she passed away at 11 months of age from a disease we never heard of. You can read about that in my previous blog posts. But, what I want to share about this PURE LOVE that Hannah taught us is that even though she is no longer on this earth – our love for her still grows. It is such an amazing thing. I didn’t know love was alive! It keeps growing even though the person you love may have gone to heaven. We can’t wait to see our Hannah again, but until then we are so grateful to God for giving us the gift of LOVE!
Happy Valentines Day
SMA Carrier Testing
Spinal Muscular Atrophy or SMA is the #1 genetic killer of infants under the age of two years old. 1 in 40 people unknowingly carry the gene responsible for SMA. SMA affects all races and both genders.
Because SMA is genetic, that means it is an inherited disease. We have discovered that the gene came down from my grandmother’s side of the family. Hannah-Rose was 4 generations away from my grandmother and was affected with this disease. There are many other “carriers” in our family and those carriers need to keep an eye on future generations to ensure that this disease does not take another life in our family. How can we protect future generations? By getting tested to find out if you are an SMA Carrier. SMA Carrier Testing is a blood test that most insurances cover.
BOTH PARENTS HAVE TO BE CARRIERS IN ORDER FOR A CHILD TO HAVE SMA
If you are a confirmed SMA Carrier all that means is that you should have your partner tested as well. If your partner also comes back positive as an SMA Carrier then you have a 1 in 4 chance of having a baby affected with SMA, a 50% chance that your baby will be a carrier, and a 1 in 4 chance of nothing happening. All the carriers have a duty to alert their children and future generations of SMA, because a carrier can pass the gene onto their child even if the partner is not a carrier.
If you are related to an SMA Carrier in anyway and you are expecting a child:
Please ask your OBGYN for SMA Carrier Screening. Let them know that SMA runs in your family. They will take blood and send to a lab. It takes several weeks to get results back. If positive, then test spouse. If both parents are positive for SMA Carriers then test child envitro. There is a test that can be on the baby called CVS: Chorionic villus sampling (CVS) is a prenatal test that detects chromosomal abnormalities such as Down syndrome, as well as a host of other genetic disorders. The doctor takes cells from tiny fingerlike projections on the placenta called the chorionic villi and sends them to a lab for genetic analysis.
The reason why you need to know if you are having an SMA Baby is to prepare for the baby’s arrival. Your baby will have a better chance of surviving IF YOU ARE PREPARED AHEAD OF TIME. To prepare ahead of time will save your baby’s life. Having the right doctors in place, familiarizing yourself with available insurance services and gathering the correct medical equipment for your baby will allow your baby the best chance to thrive.
Our family (the Prendiz) paid a heavy price for not knowing about SMA. We believe that our Hannah’s Story is saving lives because everywhere we go, every opportunity we get we alert humanity about this baby killer disease. Hannah’s life was not in vein, her legacy continues through her family and HOPE for SMA, a 501 (c) 3 Nonprofit Charity that was started in her memory and Exists to Find, Get & Give HOPE to SMA Families. Please visit hopeforsma.org for more information.
HOPE for SMA
In my previous blog we talked about SMA – Spinal Muscular Atrophy Awareness. How SMA the #1 genetic killer of infants took the life of my 11 month old grandchild, Hannah-Rose. Our family started a nonprofit organization to raise awareness of this baby killer disease so other families would not be blindsided by SMA, like our family was. I went into depth to describe the different types of SMA and today I would like to share some of the earliest symptoms of SMA as noted by SMA Parents.
WATCHING FOR SUBTLE SYMPTOMS AND MISSED MILESTONES COULD SAVE YOUR BABY’S LIFE…
SMA Type 1 Symptoms as noticed by Parents – Please note that not all symptoms will be present at the same time:
- Weak cry
- Choking on bottles or breast milk
- Narrow chest / bell shaped torso
- Belly or Diaphragmatic Breathing
- Some moms noticed decrease movement toward end of pregnancy
- Tongue tremors
- Unable to hold head up, sit unsupported or roll
- Cry during tummy time and unable to lift head
- Arm & leg weakness
- Unable to bear weight
- Very floppy
- Could be limp at birth
- Hand Tremors
- Congestion or cold that would not improve
- Legs could flop out like a frog
- Nostrils flare when breathing
- Wrists contracting or wrist drop
SMA TYPE 2 Symptoms as noticed by parents
- Hand tremors
- Didn’t crawl
- Never weight bearing on legs
- Army crawled and rolled
- Unable to get into a seated position on their own
- Difficulty with coughing
- Moved less and less
- Lower body weakness
- Never would pull up to stand
- Tongue tremors
- Clenched fists
SMA TYPE 3 Symptoms as noticed by parents
- Not meeting milestones
- Fell a lot when walking
- Inability to go up the stairs
- Falling without warning
- Tire easily
- Didn’t Crawl
- Weak in the legs
- Teen tremors
- Duck Walk Gait
As I mentioned above not all symptoms will manifest at the same time and not all patients get all symptoms; but, if your loved one manifest one or two of the above symptoms, please ask their doctor for SMA Testing. I have a lot to share about SMA Carrier Testing and will post more about that in my next post on Monday. Until then please visit hopeforsma.org or my previous blog posts for more information on SMA. Thank you.
There is Always HOPE!
Imagine that you have a beautiful baby…a few months later her doctor tells you…
“Your child will not live past the age of two, take her home and love her” “Without 24 hour breathing support your child may not live to see her first birthday.” There is no treatment or Cure”
Before your very eyes your baby’s muscles start to deteriorate, she can no longer swallow so she needs a feeding tube, she doesn’t have enough strength to hold her head up, and she can’t sit, crawl, walk or even breathe on her own. Your precious baby has to endure long hospital stays, procedures and treatments that make your heart melt.
Your world is suddenly turned upside down by Spinal Muscular Atrophy (SMA) – a disease you’ve never even heard of…
Pen and paper, nor the human vocabulary can describe the anguish that SMA Children and their families face on a daily basis. SMA is the #1 Genetic Killer of infants under the age of two; 1 in 40 people UNKNOWINGLY carry the gene that causes SMA yet this disease has not gotten the attention it deserves – but, with your help we will change that.
It’s been five years since we lost our precious Hannah-Rose to SMA at 11 months of age; yet we cannot forget what she taught us. She left us with a mission and a mandate to shed a light on this horrific disease, to help those that are currently battling SMA, and to make the journey better for newly diagnosed families.
Many of Hannah’s friends still battle SMA everyday. They are so beautiful, intelligent and fill their homes with LOVE & JOY; they inspire everyone around them. Their stories need to be heard; so, in honor of all those whose lives have been touched by SMA and in an effort to raise SMA Awareness here are some answers to some questions (from our family’s perspective) about this #1 genetic killer of infants under the age of two:
What is SMA? Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder” SMA affects muscles throughout the body, although the proximal muscles are often most severely affected. Weakness in the legs is generally greater than in the arms. Involvement of respiratory muscles can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and children with SMA are unusually bright and sociable. Children are generally grouped into one of four categories, based on certain key motor function milestones.
How common is SMA? Spinal Muscular Atrophy (SMA) affects approximately 1 in every 6,000 births or 21,667 babies annually. 1 in 40 people unknowingly carry the gene responsible for SMA. There are five Types of SMA:
SMAType 0 Type 0 is the most severe form of SMA. Symptoms can often be seen in the later stages of pregnancy as the fetus is less active than expected. Once born, the infant will have little ability to move and may not be able to breathe and swallow independently. Infants with type 0 SMA often die before the age of 6 months. Doctors believe that some cases of SIDs is actually SMA undiagnosed.
SMA Type I – Also Called Werdnig-Hoffmann Disease – 60% of SMA Diagnosis are Type 1. This is what our Hannah had.
Type I is another severe form of the disease. Symptoms develop within the first six months of life. Infants with SMA type I often have trouble breathing and swallowing. Their muscle tone and strength are extremely poor; they cannot sit up without support and will not meet any motor skills milestones. Their intellect, however, is normal. Most children with type I SMA will die before the age of two.
SMA Type II – Also Called Dubowitz Disease
In children with type II SMA, muscle weakness becomes apparent between the ages of 6 and 12 months. When placed in a sitting position, people with type II SMA can usually maintain the position without support, however they often lose this ability by their mid-teens. People with SMA type II cannot stand or walk without assistance. They have poor muscle tone and strength and their fingers usually tremble uncontrollably. Their intelligence is typically normal or above average.
SMA Type III – Also Called Kugelberg-Welander Disease
Type III SMA is a milder form of the disease. Its symptoms begin sometime between the age of one year and early adulthood. As young children, they may fall repeatedly and have trouble walking down stairs. While their muscles are weaker than normal, people with type III SMA can usually stand and walk without assistance, although they may lose this ability later in life. The legs are often more severely affected than the arms.
SMA Type IV
Type IV is the mildest form of spinal muscular atrophy. With this form of the disease, muscle weakness does not begin until one’s 20s or 30s, or even later. This weakness is often mild to moderate, and the person can still walk and move independently. These individuals may experience mild to moderate tremors and/or twitching. The disease typically does not diminish lifespan. With all types of SMA, there can be difficulties in sleeping and gaining weight. Frequent pneumonia is common. A curvature of the spine and stiff joints are also common. Women with milder forms the disease have been known to give birth to healthy children, although many of the pregnancies had complications.The disease is caused by a shortage in SMN protein, which helps preserve motor neurons. Without it, the neurons cannot pass messages from the brain to the muscles of the body.
How did you learn what afflicted Hannah? Hannah appeared to be perfectly healthy and passed all her newborn screenings. At four months of age she started to choke while drinking her bottles, she seemed to be growing weaker, was not able to hold her head up or move her legs. She was susceptible to colds that led to life threatening respiratory infections.
Is SMA always fatal? Current statistics show that the average lifespan of a child with SMA Type 1, not put on permanent ventilation or “life support” is only 8 months of age, with 80% dying by the age of one, and the others by age two unless permanently ventilated via Trach or Bipap.
Is there anything parents can do to treat it or improve life? Most parents are aggressive about their baby’s care and seek to extend life as long as possible. Type 1 infants require a feeding tube, suction machine, breathing support such as bi-pap or trachea and ventilator, a cough machine, pulse ox, nebulizers and a montage of medical supplies and medications. Parents of SMA children are truly heroes in every sense of the word!
Is a cure in sight? YES! There are several SMA Clinical trials going on now; but, the most promising is the Gene Therapy Program at Nationwide Children’s Hospital in Ohio. Researcher’s there cured laboratory animals of SMA Type 1 and have recently gone into human clinical trial. If all goes well, the cure should get out to the public in two years as the human clinical process takes 2 years.
What do you hope to accomplish with “HOPE for SMA”? We started a nonprofit charity called HOPE for SMA – We exists to FIND, GET and GIVE HOPE to families that are battling this disease by raising awareness, funding and support and ensure that future SMA babies have an opportunity to survive and thrive! For more information on our cause, please visit www.hopeforsma.org.
YOU CAN HELP US SPREAD AWARENESS BY SHARING THIS POST. IT IS OUR SINCERE DESIRE TO ALERT OUR COMMUNITIES ABOUT SMA SO OTHER FAMILIES WILL NOT BE BLINDSIDED BY IT.
In our next post we will share the earliest symptoms of SMA, how to get carrier testing and how to live with HOPE in the face of dealing with a deadly disease. There is always HOPE!
Posted by Julie Prendiz, Hannah-Rose’s Grammie
Her name was Hannah-Rose. She came into our lives on January 18, 2009. She passed all her newborn screenings, weighed a healthy 7lbs 30z. Everything appeared normal at first; but, at four months of age her mommy noticed she was not meeting the milestones that she should. Her mommy took her to the doctors seventeen times before they diagnosed her with Spinal Muscular Atrophy Type 1 (SMA).
Spinal Muscular Atrophy or SMA is the number one genetic killer of infants under the age of two – it kills more babies than any other inherited disease. 1 in 40 people UNKNOWINGLY carry the gene responsible for SMA. SMA Babies are perfectly healthy at birth and their minds are NEVER impacted; but as weeks and months go by their bodies begin to fail them.
After six hospitalizations in six months and after doing every possible to keep our Hannah with us, she passed away just five days before her first Christmas, just one month before her first birthday and just a day into her 11 month of life here on earth. Our Hannah taught us more in the short time she was with us than anyone has ever taught us in a lifetime! She endured the hospitalizations, treatments and more than any adult could ever endure with JOY and a smile on her face that outshined the sun. Our family has forever been changed, for the better, by the visit of our little hero…Hannah-Rose!
Why Does HOPE for SMA Exist?
HOPE for SMA Exists to FIND, GET & GIVE HOPE to children affected by SMA because there is NOT ENOUGH education, awareness, support or adequate medical services available to children suffering from this disease! Until the cure is here Hope for SMA will continue to share the SMA Story and raise awareness and funding for families affected by this horrific disease.
Please join us in the SMA Battle and help us spread the word about this baby killer disease; don’t let SMA blindside you as it did our family. Awareness Saves Lives.
Written by Julie, Hannah-Rose’s Grammie