Finding Happiness and Joy

The Unexpected

For Gwen and her husband, there was no cause for concern while starting their family.  They had one boy, born typically. Gwen’s tests and scans all came back normal during her second pregnancy as well.  However, when Claire was born, it was apparent something was wrong.

Gwen recalls, “There was no reason to believe anything was going to happen.  I had a pretty uneventful labor, and she was born, and instantly everyone freaked out…they were pretty concerned and called in all the specialists to give her a thorough exam.”

“It Happened Again”

Doctors were unable to find the cause of Claire’s microcephaly and assured Gwen and her husband that there was a 25% chance of it happening again.  Confident it wouldn’t happen again, they got pregnant. 

At first all of the scans came back normal.  It wasn’t until she was 22 weeks pregnant there started being concerns.  When Gwen was 26 weeks along, they confirmed microcephaly for Lola, her unborn child.  Claire had this to say about it, “I don’t know if I’ve cried as much in my whole life as I did those 24 hours after Lola was diagnosed.  It just felt so unfair to have to go through it again..we really, truly thought we had a 75% chance or greater that everything would be fine.”

Choosing Life

Even though her obstetrician didn’t push for termination of her pregnancy, he encouraged Gwen to look at all her options.  Gwen recalled what happened, “I just remember going back to my OB who said, ‘you guys have been through an awful lot. Look Gwen, you have options, and I’m not going to judge you guys whichever option you take, but I would encourage you to check out every option.’…and I did exactly what he said.”

Gwen did her research.  She talked with people who had been through similar situations, visited websites, and read testimonials.  She said the following, “Who am I to play God? I was given this child for a reason; why am I to change this path?”

She chose life! A decision to this day she would choose over and over again.

Finding the Reason

It had taken years to find the reason behind Claire and Lola’s microcephaly.  After sending blood into different research hospitals, they finally had a definitive answer.  Her daughters have Asparagine Synthetase Deficiency or ASNS.  

Since getting a diagnosis, Gwen has created a Facebook page.  This page has helped other parents connect and find support in each other. Gwen had this to say, “It has been really neat to connect with these other families and see the similarities..How nice is it to know another family who understands what we are going through.”

Sleep is Hard

When asked what some of the challenges for Claire and Lola are Gwen mentioned a few things.  The first being the ability to control the girls’ seizures and the other is sleep. “I can’t say that nighttime is normal because they don’t sleep steadily.” Gwen said.  Lola requires constant supervision while sleeping. Usually there is a nurse who stays with her to help monitor her sleep and seizure activity. 

“Typically Atypical”  Life with Medically Complex Children

“There is nothing typical about any of my days, nor are any two days the same..the tricky part is we have PT, OT, speak technology and we have a vision therapist who comes and two teachers who come, so that’s like seven people who are trying to come Monday-Friday every single day.”

“We try to squeeze stuff in for our son.  A lot of times in the evenings he’ll have basketball games or practices, or we go with him to the gym..we try to have as much normalcy for him as we can.  We’ve always tried to do that. We are a pretty close knit family; we just like spending time together.” Gwen said.

“Life is Special and Perfect and Wonderful Exactly the Way it Is”

Gwen had some great advice when asked what she would say to a parent facing a similar diagnosis. “It’s scary as hell, I’m not gonna lie…I wish someone would have told me that back then, that I could still be happy, and that I could still find joy in the life that I had”

“I just wish that somebody had told me in the beginning..that life is special and perfect and wonderful exactly the way it is. Having these kids and thinking outside the box and not doing things exactly the way that you would with a typical child is basically upping your mommy game; it’s making you a better person, making you stronger, uniting your family… I just really want people to know that they can do it and that they just need to believe and love and find joy in every single day.”

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Living With an Unofficial Diagnosis

Positivity Despite Serious Medical Conditions

Mason is a medically complex 20-month old.  Despite all his diagnoses and difficulties, Kaitlin says, “Nothing has held him back from being the happiest child.”  His happiness is contagious to anyone who interacts with him.

One of the people most affected by Mason’s condition is his brother. “I’ve never seen his older brother so loving and so happy until Mason came into his life,” said Kaitlin.  Matthew is always quick to introduce his brother, Mason to his friends and always holds his hand. Kaitlin is so grateful for the love her boys share.

Trials Have Also Brought Blessings

Their extended families have been supportive from the day Mason was born.  Kaitlin’s mom is the only one, other than her husband, who can watch Mason, which Kaitlin says, is a Godsend.

There are some family members who haven’t truly understood Mason’s diagnoses.  They believed once Mason hit a certain milestone, he would function more normally.  It has taken time for them to realize that will never be the case. Instead, they are learning how to better support Kaitlin and her family.

On top of extended family support, Matthew’s school has done fundraisers and Christmas parties to give back to the hospital that’s helped Mason throughout his life.  Kaitlin says the kindness and generosity at fundraising events are “emotionally overwhelming” and she is grateful for their help.

Complications of Parenting a Child with a Chromosome Deletion

Kaitlin and her husband have not slept in the same bed since Mason was born. Mason has heart failure, doctors said it was likely he could stop breathing during the night. The thought terrified Kaitlin so she sleeps on the couch by Mason’s bassinet every night.  She has woken up many times to him not breathing. It is a sacrifice and a struggle but Kaitlin and her husband are willing to do it. 

“It’s a full-time job between calling insurance companies and making sure my son is getting what he needs,” said Kaitlin.  Even though he has a genetic disorder, chromosome deletion, Mason hasn’t been given a specific diagnosis.  This makes it hard for specialists and insurance companies to determine what medical equipment Mason needs to have. Despite all the struggles, Kaitlin said, “…all the positives really outweigh all the negatives.”

Fear for Child with Double Chromosome Deletion

On his 11th chromosome, one of the deletions is a whole gene deletion called the SDHD gene. This deletion increases Mason’s chances of hereditary cancer.  Unfortunately, cancer runs in Kaitlin’s family. The possibility that Mason will more than likely have to deal with cancer at some point in his life is reality daunting.  He has endured so much already, but Kaitlin is confident they will find their way through.

“That is Your Child and You Will Do Everything for Them”

Don’t shy away from asking questions.  Kaitlin says, “You are your child’s voice,” you need to be the one to stand up for them.  If medical professionals can’t give you the answers you want, find a support group of fellow parents.  Kaitlin wished she had taken advantage of this sooner than she did. She was never turned away when she had questions for other families in similar situations.

Don’t doubt your strength and abilities.  Many people have said to Kaitlin and her husband, “I don’t know how you do all this!  I would never be able to!” Their response is always, “Yes you can. That is your child and you will do everything for them.”

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Cockayne Syndrome: A Rare Genetic Condition 

Getting a Diagnosis

“Type one children are normally born pretty healthy and develop normally until they are about a year old, and then they start to struggle,” said Valorie. “Jace was born with a small head size, but normal head size by the time he was a year old.”  Jace was speech delayed and very sensitive to the sun, which is typical of the syndrome.  Valorie assumed the sun sensitivity was due to his being blond and blue eyed and didn’t consider it a symptom.

They took Jace to dermatologists when he was about 2 1/2 years old because even with sunscreen Jace would burn terribly. “He would still burn and blister, and his eyes would burn,” said Valorie. “We had been to several dermatologists, and actually the first person who said Cockayne syndrome to us was a dermatologist at Primary Children’s.”

At the time Jace was little there was not testing available in the United States for the syndrome. A skin biopsy was sent to a doctor in England who confirmed the diagnosis. “I got an email confirmation that they had found Cockayne syndrome in Jace’s cells,” said Valorie. “I had to contact his geneticist, which started this ball rolling.”

Seven-Year-Old Only Weighed 35 Pounds

Jace was seven years old when he was diagnosed with Cockayne syndrome and weighed only 35 pounds. “I started pushing for a feeding tube, and that was not an easy road. It was a rare syndrome, so doctors had not seen a child with that syndrome, so they didn’t have a set treatment plan,” said Valorie. “I finally got the doctors to understand that this kid won’t eat ice cream, won’t eat candy bars and won’t eat cookies…He was having a lot of issues because he was so dehydrated and malnourished.”

Valorie had to work hard to convince the doctors that Jace really needed the feeding tube and she had to battle the insurance company. “We had to go through all of the jumping through hoops to convince the insurance company that this was necessary,” Valorie said. “We had to go through a month of meetings with a dietitian and following what they suggested, which of course didn’t help, and he actually lost weight.”

Not Having Information About Your Child’s Syndrome

“Probably one of the hardest parts of the syndrome is that even the doctors who are trying to help, are not sure how to help, and in a lot of ways, their suggestions hurt us,” said Valorie. ” I had to decide that maybe they didn’t know best, which is not my natural perspective with a doctor, when this journey of ours started out.”  Valorie spent a lot of time researching the syndrome and worked with her son and got to know what worked. As a result, she became an advocate for Jace.

Staying Happy Despite Challenges

Jace passed away on May 25, 2017 and he was 20 years old. Valorie talked about what was the hardest part of caring for Jace during his life. “Watching your child suffer and knowing that you have to allow a doctor to perform things that are painful,” said Valorie. She expressed the desire to spare Jace the pain, but recognized they were needed procedures. “Jace had a very positive way of looking at things. He wasn’t a complainer. He didn’t cry, and whine about the pain. He was a tough guy, so it made that part a little easier,” she said. “However, the progression of the syndrome and constantly watching him lose abilities was difficult.”

Jace lost the ability to ride his bike and pop wheelies. “We got him a trike that he could ride, but he couldn’t pop wheelies anymore, but like I said, he had this great outlook,” said Valorie. He didn’t complain because he couldn’t ride a two-wheeler anymore. He was happy his trike was blue, his favorite color. “If it was blue, you could get Jace to do just about anything,” said Valorie.

Small but Mighty

“Jace had no concept that there was anything really wrong with him. He was only 4′ 2″, but he thought he was a 6′ tall man. He thought he was the strongest person ever,” said Valorie.  “Watching him with people and watching callous, closed off people, they had no weapons towards him whatsoever. He had a way with people that I’d never seen any other person have.” Jace had the ability to connect with people and he had very good people skills.

Disabilities Create Great Impact on Family

Valorie and her husband have 3 other sons besides Jace. Jace was the second to the oldest. Valorie describes the impact of Jace on her family as being tough. “Jace required 24-hour care, and the type of care changed over the years, but he’s always required eyes-on,” said Valorie. The family adapted as Jace’s medical condition deteriorated. “When Jace was in pain or sick, he was the top priority. That meant the other kids had to be second,” said Valorie. “It was a struggle, because I am one of those kinds of moms who think that my kids come first.”

Jace had difficult medical situations that required constant attention from his mother. She made sure she read stories to all of her children nightly and tucked them all into bed.

Take a Breath and Try to Enjoy Today

Valorie advocates networking with other parents and organizations that offer information and support to families with children who have Cockayne syndrome. “I would say the number one thing is to get in contact with these people,” she said. She also advises keeping children out of the sun, and to avoid unnecessary medications. “Cockayne’s kids struggle with liver issues and kidney issues, and if you pump your child full of medications, it takes a toll,” said Valorie.

“I would also say to take a breath and try to enjoy today, because when you know the cliff’s coming, you brace just naturally. It took me probably about a year to realize that I wasn’t making memories because I was so fixated on this disaster that’s coming that I was missing out on what we’re doing today,” Valorie said. “Our world is out of control, and we are all running as fast as we can possibly run, but looking back, now that Jace is gone, the things I remember are those little five-minute things, where we stopped and picked sunflowers and silly things…Make sure that you are taking the five minutes that really matters.”

It was Worth Having a Child with a Rare Condition

When asked if all of the hard times, seeing Jace regress and battling insurance companies for 20 years was worth it, Valorie replied, “Oh, Absolutely!”

“My struggle now is to try to revert back to a mom of three healthy boys,” said Valorie. Now Valorie is busy with a nonprofit organization she started called Team Jace. She has become an expert in dealing with insurance companies and doctors and wants to help others in the same situation she was in. “The number one thing I would like to focus on is helping people get the equipment that their child needs…Get on Team Jace’s page on Facebook and contact me. I will help you find what you need, and if that doesn’t work, we’ll find another way,” said Valorie. “I think so many parents just feel helpless because you’re at so many people’s mercy. You’re at your child’s syndrome’s mercy, and the doctors’. What will the doctors do, what will the insurance pay for? It’s not up to them. It’s up to you and what you’re willing to do.”

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Recognizing Every Child Has Something to Give The World

Unnamed rare genetic condition

During her pregnancy, Angie had an amniocentesis performed to understand what was going on with Ruby.  Her head was measuring smaller than what was typical and Angie was told that she wasn’t developing properly.  The results of the amniocentesis all came back normal.  

Her doctors were still convinced that Ruby wouldn’t make it to term and encouraged Angie to have an abortion.  Angie refused and chose to carry Ruby to term. After she was born, they discovered several other abnormalities.

While in utero, Ruby developed a bowel obstruction.  She required surgery when she was four days old. Angie recalled, “She was just really slow to develop..she had to stay in the hospital for 56 days to grow because she was born at three pound nine ounces..there were a lot of ups and downs in the NICU.”

Angie said, “I found out when she was in the NICU that she has a rare genetic condition; however, at the time, it did not have a name and was just a listing of various symptoms.”

Stromme syndrome

11 years after she was born, Angie finally found the name of the syndrome Ruby has.  Stomme syndrome is a very rare genetic condition that affects several different systems of the body.  People with Stromme syndrome typically have intestinal atresia (missing part of the intestine) eye abnormalities and microcephaly (smaller head).  

There is a variety in how each person is affected.  Ruby has a vision impairment, microcephaly and had a bowel obstruction.  Angie says, “Time after time, Ruby has proven them wrong.” when referring to the limited expectations doctors placed on her.

NICU is the hardest experience

Now, 12 years later, Angie says the hardest thing she has had to go through was being a single parent with a baby in the NICU.  Even with the amazing support of her parents and sister, she said, “My family is really supportive, but going through that alone was challenging.”

While Angie found that it was hard having Ruby in the NICU she later realized that there were other challenges down the road.  At first it was hard balancing all her various appointments, finding their new normal, and sending her to school. “I would say that there have been challenges every step of the way, but it also has been amazing.” Angie said. 

It takes a village to raise a child

Taking this meaning to a whole new level, Angie shared, “The most amazing thing for me has been the way people have come into our lives to help us achieve these things I used to worry so much about..it feel like every time i would be so worried, just the right resource and person or clinic would come into our lives and give us the ability to make it happen.”

“The people who have rallied around us with the joy and the inclusion for me have been huge.  I worried so much that she would be bullied in school and that she would not have any friends..she is one of the most popular kids at school and is so well-loved.”

Ruby’s impact is felt around the world

After being encouraged by someone, Angie decided to start sharing Ruby’s story through her Instagram. Angie had no idea how much of an impact Ruby would have.  Angie shared a little video featuring a Q&A with Ruby. Overnight the video had over 40,000 views and Angie gained 6,000 more followers!  

People were in love with Ruby and wanted to know how they could help.  Angie said, “I decided to start a GoFundMe for her because I’ve always wanted to get her a service dog to help with her mobility and independence..I set up the GoFundMe page on Thursday with a goal of $15,000, and we raised the money by Saturday or Sunday morning.”

She added, “I can’t even describe the amazing experience that we went through in doing that.. I just feel so blessed at the outpouring of love and acceptance that we’ve seen.”

Finding healing through sharing

Angie’s final words were, “I just remember feeling so alone when Ruby was first born..I used to hide away a little bit, not that I didn’t want to show Ruby, but because I was afraid of the people not being accepting of her, but I found my own healing in sharing her story.”

She added, “I encourage other parents to share their stories in a way that feels right to them.  There are a lot of personal feeling in that and in connecting with other families.”

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Life Doesn’t Have to be Perfect to be Amazing

20-Week Ultrasound Reveals Brain Abnormalities

Ileana and Lorenzo were excited when they found out they were expecting a baby.  At their 20-week ultrasound, they found out that their baby, Giselle, had ventriculomegaly.  Which means there were abnormalities in her brain.  They were assured it was mild and insignificant but still asked her if she wanted an abortion.

Ileana and Lorenzo refused.  Results from genetic testing gave them the idea nothing was wrong and they were in the clear. Ileana said, “She was born on November 30 uneventfully.  She is great, and we took her home and thought that the worst was behind us, so to speak.”

Getting a Diagnosis

When Giselle was falling behind for hitting developmental milestones, their pediatrician recommended using early intervention as a precaution.  However, Ileana described, “We started PT and OT, and the months kept going and that gap where she needed to be and where she was kept kind of growing further apart.”

Getting a diagnosis for Giselle happened over the course of the first couple years of her life.  Ileana first learned about her microcephaly diagnosis when she was looking through some paperwork.  She had just been told that Giselle had a smaller head and was below the normal curve.  

Getting Giselle’s diagnosis of cerebral palsy came much later.  Six months ago Ileana pleaded to find a reason for Giselle’s developmental delays.  Giselle’s diagnosis went from global developmental delay to cerebral palsy.

Seeing Children with Disabilities as a Blessing

For Lorenzo, having a child with a disability wasn’t too difficult to process.  He said, “My mom adopted my youngest sibling who had Down syndrome..I just saw him as my little brother, so that transition had helped me prepare for Giselle.  I was ready to be a father, to be there for my wife really, and it has been a blessing to have her in my life and appreciate children with special needs.”

He called having Giselle diagnosed with microcephaly and cerebral palsy “a great opportunity to appreciate children with special needs.”  

Finding Your Voice

Ileana explained that the hardest thing so far in parenting Giselle has been finding her voice.  She said, “There was so much that was coming at us all the time, and it was difficult just being able to get through this new schedule..At the beginning, there was a lot of, ‘You need to go here, you need to do this, you need to do that.’ It was a lot of conflicting information that made me feel overwhelmed.”

Communication is Key

Looking back to their 20-week ultrasound, Lorenzo says he would have handled things in a different way. He said, “Through a learning curve on my part, looking back, I wish I would have better communicated what I can bring to the table, how can i help best, what my weaknesses are and how can we work through them so i can be a better father and better husband.”

He wanted Ileana to feel his love and support.  He has now learned that he needs to be up-front and honest and say, “Let’s get a game plan going.” 

Don’t Feel Like a Bad Parent

When she compared herself to other families in their grieving stage, Ileana felt embarrassed for feeling sad about Giselle’s diagnosis.  However, she now has learned that it’s okay to be sad, to grieve and to feel hurt.  

In order to help her through her grieving process, Ileana sought out a community of parents.  She was able to find comfort and “solid practical advice” as she put it from other parents. They were able to help her to know what that they were going to be okay by redefining her definition of what okay meant.

Her final parting words were, “Life doesn’t have to be this perfect thing to still be wonderful and amazing.  That’s our biggest thing to share, what we’re not a pity story; we are living a great life that just happens to look very different.”

The post Ileana and Lorenzo: Microcephaly and Cerebral Palsy appeared first on Orangesocks.org.

Nothing Like the Doctors Predicted

Pressured to abort at six months pregnant

During a routine ultrasound when she was six months pregnant.  Erika was told that her baby’s head and brain were measuring smaller than normal.  She recalls the doctor telling her that her baby had something called microcephaly.  

The doctor then told her if she wanted an abortion, that could happen the next day in San Antonio.  Erika and her mother decided to go to San Antonio and see what that doctor had to say. She recalled, “..sure enough, they did another sonogram and explained about microcephaly..that it was going to cause her to be mentally delayed.  They thought that she would be pretty much like a vegetable if she even lived past birth.”

They also told Erika that she would never walk, talk or do anything on her own.  To even further paint a horrible picture, they showed Erika’s mom a photo of a baby with deformities on the face.  The doctor told her that if she continued the pregnancy that the baby would look like that.  

What if?

Erika felt very pressured to abort Erilyn.  She said, “I kept saying that I’m already this far along, and I can feel her moving every single day..There is always that ‘what if?’  I couldn’t imagine getting rid of her”

Knowing that there was a chance the doctors were wrong, Erika wanted to give her baby a change to show everyone what she is capable of.

Everything turned out okay

The day of delivery for Erika was “nerve-wracking”.  During her C-section, Erika said, “I just remember praying the whole entire time.  Just praying and praying and hoping that everything would come out okay.”

Erilyn was born with a lot of hair.  “I saw her face and saw that everything was perfect; she looked perfect and she had the cutest little nose, and everything was normal.” Erika said.  Nothing like the doctors had predicted.

Challenges in raising a child with special needs

Microcephaly is a condition where the brain and head are much smaller than expected.  This results in the brain not being fully developed. Each baby is different, but some babies can have seizures, developmental delay, intellectual disability, feeding problems, hearing loss, vision problems, and problems with movement and balance.

For Erika, some of the challenges have been the amount of care that Erilyn requires.  She said, “I still pretty much have to do everything for her. I still have to bathe her, I still have to feed her and change her..I feel like every other day I say, ‘I’m a hot mess’ like my emotions are everywhere all the time.”

Despite the challenges there are many joys

When asked what her joys were, Erika said, “Just everything; she is so amazing everyday. I could be having the hardest day and be in the worst mood, and she will come up to me and give me a kiss and just smile and look at me in the eyes..she’s such a joy to have in our lives.”

Everyone who comes into contact with Erilyn tells Erika that she is the sweetest thing.  Erika feels that anyone who comes in contact with her is touched by her.  

Making you want to be a better person

Erika’s family has been blessed by having her in their lives.  Erika said, “I feel like we are all motivated by Erilyn. She makes us all want to be the best that we can be.  Just to appreciate everything and not to take anything for granted.”

Even though there are some challenges that have come up raising Erilyn, Erika said, “This is our life, and we love it, and we wouldn’t change it for anything.”

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