MEET THE CHILDREN

Read their stories, written by their parents.

ANGELA'S STORY

Angela joined our family when she was 5 months old. We already had 5 biological and 3 adopted children and were in the midst of a break from foster/adoption to focus on them. I often pray for children online that are looking for their forever homes. My then 12 year old son, Max, saw Angela’s picture on my computer screen and asked who she was. I told him she needs a family and Max said, “We need to bring her home!” I told him he was crazy! We are getting older and already had a pretty full house. Max made me promise to call the adoption agency the next day. I did, and just a couple months later we brought Angela home.

Angela has a rare genetic syndrome called Wolf-Hirschhorn Syndrome. It is caused by a deletion on the #4 chromosome and has essentially affected every system in Angela’s body. She will be 2 years old in just a few days, yet is physically and developmentally a 3-4 month old. She is a petite 12lbs 12oz and wears 6-9 month clothing. She has already had 4 surgeries and is scheduled to have additional eye surgery and to have open heart surgery in the next few months. She has status epilepticus seizures which thankfully are currently being controlled with medication. These seizures can be deadly but Angela has fought through five of them so far. Feeding and keeping weight on Angela has been a constant struggle. She now has a feeding tube to help with that. This is just a partial list of what Angela is up against. So far she has always come out on top! She is the true definition of a fighter and has taught us all so much!

Wolf-Hirschhorn Syndrome is a spectrum disorder. Although one in three pass before their second birthday, with medical advances others are living into their 60’s and beyond. We do not know how long Angela will be with us, and seeing others will Wolf-Hirschhorn pass at such young ages is soul crushing. My 17yo son pointed out to me that no matter what happens, Angela will absolutely know she was loved! Angela is the light of this family! She is the Queen of the house and we all chase after her adorable smile and her insanely precious laughter!

The Image: I first saw Angela Forker’s Precious Baby Photography on Facebook. I saw her project with special needs infants, and although Angela is almost 2 years old, I wanted so badly to have a similar session with her. I sought a local photographer, but didn’t find one that quite captures children like Angela Forker does. I messaged her and asked about Angela being part of the project, with the understanding I’d have to fly from WV to IN. She responded yes and I think I screamed out loud! A few weeks later my son Max, Angela and I headed to Indiana! The session was beyond what I expected! I think one of the most special things was that everyone present, the videographer, his assistant and Angela Forker saw Angela for who she is and not just a child with a syndrome. They loved on her and their adoration of her was very real. That is absolutely not something a special needs momma can always say about the general public, and I truly appreciated that. The time and effort Angela Forker and the videographer put into the session was very obvious, and their passion for their work really came through. Angela Forker’s portraits are truly amazing and I feel very privileged that she allowed us to be part of this project. Her portraits portray children with special needs doing the unimaginable! Magical is the only word I can use to describe them!"

MADISON'S STORY

My name is Madison Liliana Sergeant Mann.  I am two years old and I live in South Carolina with my devoted parents.  I would like to share a bit of my story which has had ups and downs, but at a young age I have learned to thank God for his immense mercy for me.  My birth was highly anticipated and longer for by my parents and loved ones, who without knowing me had already shown me all their love. 

 

But everything changed a few weeks before my birth (35wks) when I was diagnosed with a quite rare syndrome (1 in 50,000).  This was the most difficult time that my parents and all those expecting my arrival had to face.  This period was very emotional and uncertain because of all of the unknown.  My relatives joined in prayer and cried out to God to work in my life.  The syndrome which I was diagnosed with a few weeks before my birth is called Wolf Hirschhorn Syndrome (WHS) which is a genetic disorder that affects many parts of my body.  Signs and symptoms of WHS include a characteristic facial appearance, growth and developmental delay, intellectual disability, low muscle tone (hypotonia) and seizures.   Other features may include bone abnormalities, congenital heart defects, hearing loss, kidney failure, malformations of the urinary trace and structures abnormalities of the brain.  WHS is caused by a loss (deletion) of genetic material near the end of the short arm (p) of the 4th chromosome (4p-). 

 

My parents have created a page on FaceBook dedicated to my condition with the aim of raising awareness about the disease and seeking inclusion in society in all aspects of all children and young people living in special conditions.  Through my page, my parents show with great pride the small advances that I have achieved so far.  The little inch-stones that have become milestones that have only been achieved thanks to the dedication of my parents, team of therapists, relatives and followers of my page who cheer me on and are constantly praying for my health.  You can follow my page and see what my everyday life is all about–click here

MIA'S STORY

This is Mia. Mia was born at 33 weeks 5 days because she was about 5 weeks behind in growth and we didn't want to risk stillbirth. She is now 6 months old and finally 9lbs 14oz. We didn't know about her genetics until a few weeks after birth when the blood work came back. Mia has ring 4 syndrome. She is missing the critical region, which is WHS and also the end of the chromosome which is 4q deletion syndrome. We knew something was going on during pregnancy due to her micrognathia (small jaw), clubfeet, and her growth. I was monitored very closely throughout my pregnancy since 20 weeks.

 

Every day that passes is a gift from God. Diagnosis is something I don't think about as much now that she has already surpassed the doctors expectations. With each milestone we become that much more proud of our baby girl. She had trach and gtube surgery at the end of October. We are hoping to bring her home in about a month or so, if things go as planned. Mia is a fighter, she isn't giving up and neither are we! #BabyMiaStrong  If you wish to follow Mia's story, click here.

ARIA'S STORY

Aria was born in the hottest part of August, 4 weeks early due to IUGR and failure to thrive in the womb. We found out something was wrong at 22 weeks.  This was the time that you were supposed to be happy and find out the gender, but we didn't get that.  We knew something was wrong.  I was induced on a Tuesday at 7pm and on Wednesday at 11:28pm Aria was born! I had her vaginally and got to hold her within a half hour of having her. She was breathing on her own and her heart was beating great for being 3lbs 11oz.

 

The next day they couldn't figure out what was wrong with her, she didn't have any energy to eat and wasn't showing hunger cues. We were flown to Spokane and had to spend a month in the NICU. We spent 29 days there.  When we were discharged she had a feeding tube and weighed only 5lbs 3oz. Before she was discharged they diagnosed her with WHS. I'll never forget the look on the doctor's face when she told me Aria's condition.  She told me the news and I showed signs of relief while she looked at me like a killed a kitten. I told her we knew something was off since I was 12 weeks pregnant and to finally know what was wrong was such a huge weight off my shoulders. I said she isn't going to die in the next 5 mins and she doesn't have cancer so I'm FULLY BLESSED!!! I prayed to GOD that my baby would be happy and healthy and he delivered!!!

 

During the first year we had feeding issues and seizures. She had her first seizure at 5 months old. Between trying new medication and helping her meet her milestones,  she kept us up on our feet. Due to feeding issues, Aria had a g-tube placed at 10 months old and was ordered no liquids by mouth. Aria developed infantile spasms and we discovered that now she would be haunted by myclonic jerks that take every bit of her energy. Aria's condition has lead to several delays including feeding issues, a cleft palate and hypotonia. Our lives the last 2 years have revolved around endless therapies, countless doctor appointments and many hospital visits.

 

She is a spitball never the less, stubborn as they come and faces challenges head on.  We have no doubt that she will overcome and master anything she puts her mind to. She is loved by three other sisters and her mom and dad.  She has taught us a whole new love in life! We can only hope that we can spread the awareness and love that we have found in our new life journey with Aria Emma Jean Stanaway!!! If you wish to follow Aria's story, click here.

 

FAITH'S STORY

My name is Amber, and I have two beautiful daughters, Nicolette and Faith. This is Faith’s story. I had a normal pregnancy with Faith besides the fact I was going through a divorce while pregnant. Nothing was overly concerning or exciting during the pregnancy itself. At the very end, probably around 37 weeks, I found out Faith was breech and I would need a csection. That was the only complication, we had no idea that in a few months our lives were going to be turned upside down. By the time Faith was 2 months old I knew something was “different” or “wrong” with her. She was not hitting milestones, she was so small, and she had TERRIBLE acid reflux requiring high doses of medication twice a day. Her pediatricians office said to me, “she will catch up, don’t worry”. But I always had a feeling in the back of my mind that wasn’t true.

 

On May 1st, 2017, Faith had a 49 minute seizure which landed us in the hospital for several days trying to find out why..... we got no answers. A prescription for seizure meds, a follow up appointment with neurology, and we were discharged. Everything was great over the summer until August 1st, 2017. Faith had another seizure, except this one lasted 1.5 hours. Also requiring us to be flown to a children’s hospital and this time we stayed 4 days. More tests, but still no answers. Her medicine was increased, we got another follow up with neuro, and we were sent home. At the follow up with Neuro, they told us that maybe Faith had Dravet syndrome. Dravet is a progressive form of epilepsy in which there is no cure. I was devastated and terrified. This was going to get worse? I just couldn’t take it. Our neurologist told us we needed genetic testing done, and luckily Faith already had an upcoming appointment with a genetic specialist at Phoenix children’s hospital.

 

On December 14th, 2017, I got a call from the genetic specialist with Faith’s results. She did not have Dravet syndrome. Thank You Jesus. But, what she did have was Wolf-Hirschhorn Syndrome. WHS is a rare syndrome that is classified as severely disabling. It affects many different body systems and the prognosis isn’t good. If you do just a little research on it, it is absolutely terrifying. But if you dive deep, you will see that there is a wide spectrum of the children that have WHS. And they are all wonderful gifts from God no matter where they land on the spectrum. Faith is doing amazingly well considering all she has been through. What I hope to accomplish through this difficult time in our lives is to show the next person that no matter the odds, you can get through anything in life. With love, Faith, and support, everything will be ok in the end.

 

If you would like to follow Faith’s little life of love, check out her Facebook page and I can keep you updated on our hurdles and joys. Thank you so much for taking the time to read about her, and taking interest in these rare conditions that need all the research and support they can get. If you wish to follow Faith's story click here.

CAROLINE'S STORY

My daughter‘s name is Caroline. Caroline was born on 29th of June, 2017 in Lithuania. A green beautiful Eastern European country Lithuania.

I didn't expect that the birth of a second daughter will turn my life upside down. Wolf-Hirschhorn syndrome was diagnosed when Caroline was 10 months old.

The beginning of pregnancy was normal, I didn’t feel anything unusual, until I had genetic tests. Tests did not show high risks of abnormalities, however, the doctor said “The risk is low, but I can’t guarantee that the child is healthy.” I didn’t have any more tests.

Later, on week 17 or 18, during a scheduled echoscopy, the doctor noticed that the fetus is 1,5 weeks smaller than it should be, and the amount of amniotic fluid has decreased. Even though the doctor didn’t think it was serious, I rushed to LSMU clinics in Kaunas – I wanted to find out what the situation was. Later, the doctors there saw, that it was worse than we thought: development of the fetus was even more delayed, and there was not enough amniotic fluid. I was put under constant surveillance.

All organs were carefully monitored. I remember when they told me, that the brain is smaller than it should be, but kidneys, heart and other organs are fine. They thought it might be insufficiency of blood flow, thus the delay of fetal development, because the amount of amniotic fluid restored after a while.

I was worried the whole pregnancy. The baby was always in the same position, and when I asked the doctor if that was normal, she said nothing. I thought the baby should be moving, it shouldn’t be just in that one position.

I can’t say why, but before we started planning the second child, I asked my husband, what if the baby will have a disability? I guess, even then I had some sort of a hunch.

The labor was induced and 4 days later Caroline was born. Before the labor one doctor mentioned, that there might be a genetic cause of the baby’s small weight. When my daughter came into this world, her scream wasn’t very loud – her lungs were not fully developed, thus she was rushed to the reanimation unit, as she started suffocating. I was told, that there are no healthy children here – be ready for anything.

I realized that genetic tests are needed. I asked geneticists to take blood samples – specialists were looking for another syndrome, but it wasn’t confirmed.

My daughter had difficulty eating – she was screaming for an hour. Later I noticed, that she had a tongue-tie, so we asked the surgeon to cut it, and he noticed that her palate is defected. After some time I found out that a cleft palate is an indicator of a genetic disease. We went home a month later, even though my baby was still not eating well.

There were no such cases in my family, nor in my husband’s, therefore geneticists were trying to figure out the reasons for this syndrome. In our case, the reasons for this syndrome are unknown, and age, lifestyle, or place of living have nothing to do with it. 

Caroline was 10 months old when I knew that she has the Wolf-Hirschhorn syndrome. I didn’t have a clear answer for a very long time. For a long time the geneticist working at LSMU clinics did not answer to the question “What is happening to Caroline?”, and later I found out, that the clinics didn’t even have the right reagent, therefore they couldn’t do the test. I then went to Santaros clinics in Vilnius and got the results in a month.

After hearing the diagnosis, the geneticist sent me a very detailed description and invited me to come at any convenient time. I got a lot of information from the encyclopedia, and after reading everything I had, I just lost it.

Because to the cleft palate, Caroline was deaf for 6 months, because there was a fluid buildup in the inner ear. However, I am very happy that after an operation (tubes were inserted into her ears) my daughter can hear now. Caroline can turn over from her belly on her back and vice versa, she tries to sit with support, in her own language talks to me and her sister. She is a calm and happy child.

The thing I am afraid the most is that I won’t be able to work again, because there are no establishments, kindergartens, day centers that would provide gastronomy care. This means, that I can’t leave my daughter with anyone except my family.

I recently heard about integral help that provides care services for people who have serious disability 4 hours per day. This service is paid and should be available until November 2019. I believe, that these centers that provide help during the day are essential, because I can’t leave my child’s side even for a few hours.

March 2018 Caroline had a gastrofundoplication done and had a gastronomy formed by implanting a low profile gastronomy feeding tube. It is quite new thing in Lithuania.

Gastronomy tube supplies are not compensated, except for tube replacement which was scheduled in advance. My family spends a lot of money on them. Those expenses are really high, and not all parents can afford it.

My emotions are very mixed. I feel deep sadness, stress, anxiety. I don’t know, if I will be able to work again, whether institutions that can take care of such children will emerge, will I be trapped at home on social welfare. It’s only natural that our relationship with a husband is under severe stress, as there is a lot we have to endure, understand, and accept. 

I love my child endlessly, and I keep saying that the most powerful weapon is hope. I hope that one day everything will be as good as possible for Caroline, me and rest of my family.

SAM'S STORY

Sam is the light of our lives that followed the dark days after his birth and up to his diagnosis. Now that he is in a stable place, he brings so much love and joy to our family of 6. Sam is the last of our 4 children and definitely the happiest. He was born at full term after an uncomplicated pregnancy via cesarean section due to his being breech.  He required resuscitation at birth as he did not start breathing on his own but recovered quickly. He had a very weak suck and despite everything we could do (pumping and bottle feeding), he failed to gain weight and required the placement of an NG tube at 7 weeks of life and G-tube at 5 months. Currently, 95% of his calories go through his tube.

 

After meeting with various doctors to attempt to figure out why he did not eat on his own, we waited 6 months to see a geneticist and another 3 months for our insurance to approve the microarray. The test showed he has a 15q24 microdeletion.  His condition is ultra-rare with only about 200 people in the world with it.  15q24 is characterized by hypotonia, mild-moderate intellectual disability, connective tissue problems (hyperflexible joints among other things), speech delays, difficulty eating. 

 

Every milestone he reaches is a gift and we are amazed at his sweet persistence. Though as parents we never applied to be in this elite club of having a special needs child, we are not sure if we would want that card revoked.  We are hopeful that technologies can evolve that may make his life easier; however, we accept that those developments may be too late for our son to benefit from.

 

The deletion has also granted him super powers. He is ultra-flexible and would make any yoga master jealous. In a crowd, his smile parts the sea of people leaving on-lookers with a smile themselves. He gives and receives loves freely and without words through hugs, smiles, and laughter.  His pain tolerance is amazing and he rarely cries. He has no enemies. Though he doesn't walk, he is close but has the most adorable crab crawl. We love Sam and are happy to have him as a major part of our family.

 

-Heather and Gary Jackson

ASHTON'S STORY

Meet Ashton! He is 2 years old and we live in Pennsylvania. Ashton was born at 37 weeks. We found out at 35 weeks via amniocentesis that he was missing part of his 4th chromosome resulting in Wolf Hirschhorn syndrome.

He spent 6 weeks in the NICU before joining us at home. In 2 years he’s been under anesthesia 23 times and counting. He sees countless doctors. He’s been a recipient of a cornea transplant. He also has bilateral hearing loss so he wears hearing aids to help him get the best hearing he possibly can. He’s suffered from seizures which has required quite a bit of hospitalization.

At this time Ashton does not sit up on his own. He gives the biggest smiles and is constantly laughing and babbling. Although our lives are completely different to meet his everyday needs we couldn’t imagine life without this sweet boy.

 

ALEYAH'S STORY

My name is Renada and this is my daughter Aleyah. We found out in late July 2018 that we were expecting a little one. We were beyond excited, as most people are when they find out they’re expecting. Fast forward to October, is when everything changed. She was measuring over 5 weeks behind in growth and wasn’t growing. She was in the 1st percentile. At that rate, it was no longer the thought of “oh she might just be a small baby”, we knew something was wrong. So we had an amniocentesis done, and the results we got back turned our world upside down.

 

Wolf Hirschhorn Syndrome. It is an extremely rare chromosomal disorder where part of the fourth chromosomes short arm gets deleted. The characteristics of this syndrome would be, seizures, major heart defects, kidney issues, growth and feeding difficulties, intellectual and physical delays, GI issues, pronounced facial features, cleft lip/palate, weakened bone and muscle tone, and many other organ anomalies.

 

When Aleyah was born we spent 7 days in the pediatric unit due to the amount of weight she lost and because she had a hard time eating. She has severe feeding difficulties: she aspirates and has stopped breathing twice which we were hospitalized for, and has horrible penetration when she eats, has severe oral aversion, and she also has horrible reflux to the point of puking entire bottles up at a time, which is now controlled by high doses of Omeprazole. She is now being seen for lip/tongue tie. She sees many specialists weekly for a variety of different things. Physical therapy for her hips, torticollis, and weak muscle tone, speech therapy for feeding, feeding disorder specialists, nutrition specialists, geneticist, neurologist as she has had a lot of seizure like activity, cardiologists, as she has ASD- and has 3 holes in her heart, along with a tortus valve, and her heart doesn’t pump as hard as it’s suppose to, which we are monitoring monthly for now. She also has kidney defects and they are also abnormally tiny, which we are also monitoring monthly. We still get scared everyday not knowing how long we have with her, or what the day will bring, if her heart will randomly stop pumping, if she’ll stop breathing again, the seizures, etc. Everything with these children can turn in a matter of minutes, but we appreciate and cherish every minute with her and we always keep the mind set that it could be soo much worse.

 

Aside from all of that, she is the sweetest little thing in the world. She loves when you talk to her, she loves to talk back! She is the biggest cuddler EVER. She is super smiley and tries so hard to giggle even though it just comes out a silly little squeak. She is a total daddy’s girl too (of course). She can brighten up your day just by seeing her and hearing her little voice! Everyone loves her to pieces!

 

We have a long tough journey ahead of us but she’s worth every second of it.


Follow Aleyah's story on FaceBook here.