Search Results for: down syndrome 101

Infantile Spasms in Babies with Down Syndrome

January 26, 2019 by Guest Post 1 Comment

A Down Syndrome diagnosis can sometimes come with an increased risk of other more rare disorders. One of these is Infantile Spasms.

Though this disorder is very rare, there is an increased risk of infantile spasms in babies with Down Syndrome. What better way to understand this disorder than to hear directly from a parent who has been there?

Dashel, who has Down Syndrome, has always been a happy baby and loves to smile. On April 8th, when he was four months old I noticed something wasn’t quite right, he wasn’t smiling hardly at all that whole week, he slept a lot more and just didn’t seem himself when I looked at him. I also noticed that when I was trying to give him his bottle he seemed unusually cranky and fussy and in the middle of trying to get him to calm down and take his bottle his arms and legs seemed to quickly jolt forwards and his eyes rolled back. It only lasted maybe 2 seconds but after it passed he would cry, a cry I had never heard before. I knew something wasn’t right and called his pediatrician to get him in the next day. A few hours would pass and he would have the infantile spasm, sometimes more than one, like a cluster.

When I took him to the pediatrician’s office he wasn’t having the spams at that time, but I had taken two videos on my phone the day before and was able to show the Dr. She seemed concerned and told me she wanted to talk to a neurologist to see what they thought. A few hours after I got home I received a call from the Dr. herself that the neurologist at Cook’s Children’s Hospital in Fort Worth wanted me to bring Dashel down to the emergency room as soon as possible. My husband left work immediately and my older son was picked up by my mother in law. We got to the ER and when we got to see one of their doctors we told them everything and showed them the video. They immediately did bloodwork and ordered a CT scan. They also got a urine sample via catheter and did a spinal tap for fluid testing. We hated seeing him go through all of this but knew we had to figure out what was going on. They told us that we would have to be admitted until they had the results for the spinal fluid, maybe 1 to 2 days.

The next morning after we were admitted to a room upstairs, the neurologist, came in and said he reviewed Dashel’s chart that morning and wanted to do a 24 hour EEG with video monitoring to see what else could be going on, he also said he thought it could be seizures and that the EEG would confirm this. During the EEG, we had a button that we had to push every time Dashel had the spasms to mark when he had them on the video as well as the EEG monitor, which by this time had increased in cluster and were lasting a little longer than before. After the 24 hours were up and he was removed from the EEG, the Dr came in and explained that Dashel was having Infantile Spasms, which he also called seizures. He explained that it was something not very common but was however more common in children with Down Syndrome.

His treatment plan was putting Dashel on a series of injections called ACTH or the Acthar Gel. Dr. Kelfer said that he felt this would help, but that Dashel could go on to have other types of seizures or possibly none at all. We would have to administer the injections at home everyday for six weeks. Dashel was prescribed a lidocaine cream to place on the injection site before the injection. The needle gauge had to be a little bigger because the medication was a little thick in consistency, so the cream helped with numbing the injection site. The nurse came in and walked us through the whole process and was very helpful. I had to do the first injection while we were at the hospital and it was honestly a little scary to inject our four month old with a medication but we got through it. The only side effects he had from the ACTH injections was an increased appetite and swollen cheeks which were both normal.

During the treatment we had two more EEGs done, one after 3 weeks of starting the treatment and one after the treatment was complete. The last EEG after his treatment was complete showed no seizure activity! We were so grateful and relieved to have such great results. The neurology team at Cooks took great care of Dashel. He hasn’t shown anymore signs of the infantile spasms since his third day of treatment.

Hopefully this is one of the last ones we will ever see: https://youtu.be/_SU4lmoQSqs

If you ever see your child do something that you don’t feel is right, follow your instinct. If they don’t seem like themselves have them checked out with their doctor, they may not be able to tell you what’s wrong and its better to be sure. Dashel’s Dr. said that the best thing we did was to get him checked out quickly.

Adopting a Child with Down Syndrome

January 22, 2019 by Dawn@cedarsstory.com 2 Comments

Most of the stories I share are stories of parents learning their child has Down Syndrome. The diagnosis process can be brutal for some, whether it happens prenatally or at birth. However, for those who are never able to wrap their heads around parenting a child with special needs, whether it be due to the time in their lives, the situation they find themselves in, or just fear, there are families who are specifically interested in adopting a child with Down Syndrome. This is one such story, a beautiful tale about adopting a child with Down Syndrome.

Pages: 1 2

Finding Beauty and Dreaming Despite a Down Syndrome Diagnosis

January 12, 2019 by Guest Post 5 Comments

We have had the privilege of sharing over 100 stories of moms receiving a Down Syndrome diagnosis either prenatally or at birth. However, it is the dads that sometimes really need to be heard from. The silent partners that sometimes don’t share their perspectives as they remain strong and silent. Other dads need to hear it too though. Here is one dad willing to share…

It’s a beautiful day…

It was a beautiful day. Sun was shining, temperature was nice, we were full of energy. Ready for the prenatal screening, a normal check after 20 weeks of pregnancy. As usual I was offered a chair, somewhere at the feet of my wife. So far so good, we were joking, looking at the tiny human jumping around. The tiny human that came as a huge surprise. But not for a moment we were shocked – we were thankful and happy right away. Somewhere halfway the appointment I started to notice something wasn’t right. The sonographer became more and more quiet. The temperature seemed to drop. After moments of silence, she started talking again.

“There seems to be something wrong. I can’t see the connection between the ventricles in the baby’s heart. I have to send you to the hospital.” Our joy had vanished. Tears came. So far we had lived the perfect life. Happily married, blessed with amazing, healthy twin girls, another healthy and happy boy, doing jobs we love, doing things we like. I asked: ‘did you not see it, or isn’t it there at all.” After a couple of long seconds she answered: “It isn’t there. But it’s reconcilable with life.”

…don’t let it get away….

We cried for minutes, outside, hugging and hope returned fast. We had to pick up our kids, who – as always – were loaded with joy. The next day we went to the hospital, where the specialists looked at our baby. A new world opened for us, being at a children’s hospital. After the ultrasound we had to wait for a team of specialists to tell the results. They were clear. Our baby had a huge hole in his heart. But: it looked good, and it is something which can be fixed with great chance of healing. So far so good. Then the cardiologist was quiet for some moments and she said “well, there is something else with these heart defects. There is a 50% chance your baby has Down syndrome too, as this heart defect is one of its markers.”

I faded out, my mind turned into fog until the cardiologist, somewhat uncomfortable, put her hand on my shoulder for a second.

The next day we decided to go for clarity and requested an amniocentesis to find out if it was true.

…sky falls.

We had a tough week ahead. To be honest: I didn’t know anything about down syndrome. Well, I knew about the cute people on television. They seemed cute, but also people that you could really connect with, somehow. Either way, for us they were people far far away, you saw them once in a while somewhere. But never ever could I picture one of those people being my son – yes, we found out it was a boy. The next week we got a phone call. Our fear had become real: the boy had trisomy 21. This time it felt like we literally collapsed because of the worst earthquake ever. We felt as if our lives had ended. Unless, of course, we decided to end the pregnancy.

“Grace finds beauty – in everything”

It crossed my mind a couple of times. It would not be fair to our other kids to have a little brother who would suck up all attention. It would be the end of our marriage – this weight was something we could not carry. And a little boy with a huge heart defect and Down syndrome wouldn’t really have a happy life, right? But these thoughts didn’t last long. In fact, we had such an amazing time together, and with friends and family. Intimate talks, opening up our hearts, sharing our doubts and vulnerabilities. It was a time of many tears, laughter, and growth. And slowly but surely, love won. Love for each other, for our girls and boy, and of course our baby boy. Happiness returned. And yes, frequently happiness got covered by clouds and fears.

“This is not a burden. It is an adventure!”

And then the new year started, with a huge bang. All of a sudden Victor Judah was born, three weeks early. Our warrior. A very smooth birth. A little baby, crying loud, healthy color, huge testicles, 10 fingers, 10 toes. A perfect baby. After three days we got to go home. Our adventure had started. And boy- did we learn a lot. We had to work hard, just like with the other kids. Victor seemed to be the pee master, peeing almost every time when we opened his diaper. Victor amazed us, amazed the doctors, amazed everyone who visited him. This boy has something special. He is pure, and pure joy. Most things I thought to know about people with down syndrome were just wrong. Victor is in most ways just like anyone else. But look him in the eyes and you meet an angel. It is like heaven opens up. It is like he is saying: “just be yourself, and love me with all you have. I am worth it – and I love you anyway.” Victor has learned me to love unconditionally. Raising kids is more about helping them find happiness, and less about what I think what makes them happy. So Victor became quite the teacher for me. We learned to slow down, live by the day, and enjoy the little gifts we are given daily.

Of course there are some tough battles to fight with Victor. Like when Victor caught a virus, only a few weeks before the open heart surgery. It was too much for him – and he had to stay at the ICU for weeks. We saw lots of nurses and doctors. I could write pages about them – some really loving and caring, and some less understanding. But our experience at the Intensive Care was somehow beautiful. Walking side by side with parents standing next to their kids who fight for their health creates unexpected bonds. It makes you look different. And to bring your child for a 6 hour surgery, knowing they will cut his chest open, and stop his heart from beating is hard, the hardest thing I ever did. But great is the Victory when you get the call: surgery is done, it was successful. Even greater is the Victory when your boy opens his eyes. Smiles at you. Gets to go home with you. Enjoys vacation. And grows, learns, laughs louder and louder. It heals us probably even more than him.

“T21 babies looking for dads willing to fight for them, for the right to exist”

There was a time I thought that I had to be an advocate for Victor, for the weaker human. Now I see Victor is his own advocate. But I need to be his dad. A dad that fights for him. That battles the stigma. That opens eyes, hearts and doors so other people stop discriminating and see the human Victor. The boy with special gifts, who happens to may have a few special needs. I know most fetuses with down syndrome are not born. It is our mission to fight the elimination of gifted people with T21. I hope to inspire dads-to-be (and moms) not to fear if they get the diagnosis down syndrome. That the voices full of stigma and false information get drowned out by voices of loving parents and their amazing kids. I hope to find lots of dads fighting by my side for the future of special kids. Making way for stories of unconditional love, of faith and victory. Opening the eyes and hearts of people at governments, and hospitals. Showing them it is not ok to erase people just by misjudgment, and be silent about it. I won’t accept that I am part of a generation that willingly choose to erase a whole group of special people. Let’s show all the couples receiving this diagnosis: life will not end! It might change, but let’s show them that with great battles come even greater victories. It will change your heart, your relationships, your way of living – in a beautiful way.

“You may say I am a dreamer”

Living with Victor makes us dream. About his bright future, with many victories. And about our future as a family. We started dreaming about having a huge house, with lots of space, surrounded by land. A place where we can create space for people who are tired of all the stress and the performance related pressure. Maybe hunted by questions, maybe the victim of stigma’s themselves. In that place we want to share the wisdom from Victor. Where through Victor’s lessons people can find rest, and learn to love unconditionally. Call me a dreamer (to afford such a place we need to win at least the lottery), but until that day we will share the lessons, the hard lessons, the lessons of love and exceeding joy with the world. We see Victor touches lives, opens hearts. Let him be an example.

Victor was fearfully and wonderfully made. And yes, our road has more bumps. But with the bumps comes way better views – and for that we are deeply thankful.

Pauline’s Story- A 1 in 10 Chance of Down Syndrome

December 17, 2018 by Guest Post Leave a Comment

Pauline’s Story- A 1 in 10 Chance of Down Syndrome

The initial early tests for trisomy disorders can cause alarm, and more often than not they cause a family to hold out on the hope that their child will not be the 1 in 10. It can also be something that puts a stumbling block in the road of acceptance as a parent is not fully able to embrace the diagnosis when there is a chance that the baby will be born with the standard chromosomal makeup instead of a little something extra. This is Pauline’s story, a beautiful little girl who had a 1 in 10 chance of Down Syndrome.

We were told our child had a 1 in 10 chance of having Down Syndrome due to physical markers like her nuchal fold. I was told this over the phone by my OB. Over the telephone made it feel a bit distant and not as personal. I also think that some of the messaging or caution is around the health of a baby with DS. The medical community is risk-averse and kids with DS can have complex health issues or not so many. The explanations for having a baby with DS seem very cautionary and can paint a very risky future. My husband and I both knew that with pregnancy–any pregnancy–complications can come up and once your babe is born, the future is still unknown. So it seems a bit harsh to be so cautious about having a baby with Down Syndrome. With all our medical advances, you would think this would be different. I think it’s fine to be realistic and provide a balanced view versus being overly cautious.

I was definitely sad about the type of future my child would encounter. Also, being a first-time Mum, I did not feel confident raising a child with a disability. I was afraid more for selfish reasons about how others would judge me, my child and my family. I had also envisioned a perfect future for my child. The diagnosis changed that and made the future seem more uncertain. It was mainly my own projection of what the future should be, so that it would be convenient and something I could predict and control.

I think most of my fears were around people we knew not being supportive and loving to our child. I’m by nature a very anxious person, so knowing that some babies with Down Syndrome may have complications made me super-paranoid. I also had anxiety from a previous miscarriage, so that baggage came with me, sadly!

We did not tell all our family about our child having Down Syndrome until they met her and then we explained it to them.

We had never really known anyone with Down Syndrome before our daughter was born, there was a girl at our parish, but we did not know the family personally. We were lucky to have watched “Imagine a world without Down Syndrome” back when I was 4 weeks pregnant. At the time, I had no idea our little one had Down Syndrome.

I worried about telling others because I was afraid of another miscarriage, mainly, and the possible health risks for a child with Down Syndrome, which could result in a miscarriage or a stillbirth. I also did not want to tell too many people about it and then have to explain it. We even waited to announce our pregnancy until our 4th or 5th month.

My biggest obstacle to accepting the diagnosis was that I thought maybe the 1% chance of the NIPT test being wrong was a possibility to hold out for. I did not accept the diagnosis. I loved our baby whichever way it turned out, though. For some reason, though, I felt maybe once she was born, against all odds, we would find out our little one would be a typical kid. It’s sad. I think I prayed that her Down Syndrome would be cured. I had a lack of understanding and just my own way of wishing and praying our future would be a different path. It’s strange how even our hearts can pray for the wrong thing and how I was so close-minded to this different path.

As far as health problems, our daughter needed CPAP for 12 hours and went immediately to the NICU. I had the flu, so I did not get to hold her until 16 hours after delivery. Once she stopped needing CPAP, she lost 10 ounces of weight and was not latching for breastfeeding. So we stayed until she reliably started bottle feeding. We did that so we could get our little one home sooner. We worked on breastfeeding again after she was gaining weight and becoming a champ at drinking from her bottle.

This was our second pregnancy as we lost our first at 7 weeks. This time around we had complications. I had a flu while giving birth and then had too much amniotic fluid. Our daughter was a breach baby and she had a few heart decelerations in the womb. At 37 weeks, when I went in for a regular OB appointment, I was told I would have to deliver that day. I was hopeful they could manually move our babe from breach position, but they did not want to do it with the risk of the heart decelerations. So we waited for 20 hours for a OR to be open, since we were not an emergency case. At 8pm the following night, she was delivered via C-section.

My husband Pete was more positive when I gave him the news. He was the one who said we get the opportunity to be parents and for him to be a father. It did not matter to him that our child had Down Syndrome.

After going through a miscarriage and then having another high-risk pregnancy, it felt like a lot. Some of it was a challenging time not knowing what to expect. It did bring us together more as a couple, since we had to lean on each other for support–more me relying on him. We try hard to navigate decisions for our daughter together, we share appointments and we try to both be engaged with therapists, doctors, and daycare staff. He has been 100% supportive and sometimes does more than me on a daily basis to take care of our little girl. It’s amazing to see his love for her.

I know this is weird, but I kept saying to myself, “Oh, you can barely tell that she has DS.” In my eyes, that’s what I thought. Some others at drop-in Mum groups noticed it, but not often. So I just left it at that and would not even mention that my daughter has Down Syndrome. Only at about 8 or 9 months did I start to say it more publicly to strangers that I’d meet. Ironically, this was the time that I felt that this was her normal. Having Down Syndrome was part of made her unique and I felt comfortable talking about it without feeling like others would judge her or me. I just wanted to be her advocate and, at the end of the day, for people to just see her for her, a little girl a with personality and individual traits, DS being just one of them.

Can you be honest about your initial feelings and share what they were, this could be a huge help to new mamas so they know that all of us share some thoughts and feelings when we grieve what we thought we were having.

I was mainly sorry for myself and not knowing what kind of a pregnancy I would be in for. It felt like the Down Syndrome diagnosis meant that something could go wrong that would cause a miscarriage, so that made me super worried and anxious. I did not know what to expect, from a health perspective, at all as to what our kiddo or we as parents would go through. I was definitely unsure about her future in the school system, since bullying and judgements are part of that environment. That part still puts me on edge.

What enabled you to move from learning the diagnosis to embracing it?

I think I always accepted my child and I was grateful for a mostly uncomplicated pregnancy and a healthy baby. The first time I got to see her and hold her was the best feeling in my entire life. She was perfect, Down Syndrome and all. That felt like heaven on earth for me.

I also had a strange dream the night after I met her for the first time, I dreamt about seeing myself in the mirror and as I looked at myself my features changed and l looked like I had Down Syndrome. I think that image is so vivid still. It for me still shows me what other people will see, but that means nothing. It’s just an appearance and not who a person is.

How did friends and family respond and was their response what you expected?

Some of the family was very supportive, some shocked and some did not have any reaction. It was all over the place when they first met our daughter.

I find the hardest part for me has been around hospitalization and doctors’ appointments and how sometimes the assumption from family is that my daughter is sick or sickly. For sure, sometimes we’ve been in hospital because our child was very sick. For the most part, though, the appointments are follow-ups to keep her on course. It’s been hard to deal with that perception. Family and friends are curious about her milestones. That is always a challenge to explain. I try to explain hypotonia or developmental delays to help them understand why she is not reaching some of the milestones like her peers yet and how she’ll have to work twice as hard.

How has your life changed?

For me, just becoming a parent is a huge change. I totally did not know what I signed up for–and oh yeah, I’m an only child. My parish priest always talks about the onlies, including himself, being very used to everything being about themselves, ha ha! That changed. Breastfeeding, pumping and the lack of sleep made the first 3 months feel like a tidal wave! It’s not different from the experience of any other new parent. For both me and my husband, this is our new normal. Our parish priest actually helped us understand this; our daughter is our “typical” kid cause she’s our first kiddo!

Angelique is a wife to her husband Peter, a mother to her daughter Pauline and baby Pat in heaven, and works full-time as a UX researcher. She lives in Toronto, Canada. She has always been inspired by her Catholic Christian faith and to walk with Christ on this journey called life. You can follow along on Instagram @angelqube.

What is Down Syndrome Life Expectancy?

November 16, 2018 by Dawn@cedarsstory.com Leave a Comment

What is the Down Syndrome Life Expectancy?

When a mother learns that her baby has Down Syndrome, she is often overcome with fear of the future. There are fears about what the child’s life will look like as well as what medical conditions there may be to overcome. We also worry about the life expectancy of someone who has Down Syndrome as moms tend to worry. So, What is the Down Syndrome Life Expectancy?

Well, if you look at the history in many developed countries you may be discouraged, however, the times they are changing. Historically, Down Syndrome Life Expectancy was short. There are a lot of reasons for that including lack of health screening tests, medical procedures we can now perform, and medications that now often alleviate health problems. If you look at the timeline provided by Global Down Syndrome Association you can see the evolution of this trend.

“In 1929 the life expectancy was 9 years”

“In 1946 it was 12 years”

“in the 1970s it was 25 years”

“In 1997 it was 49 years”

Today the Down Syndrome Life Expectancy is 60 years plus with good medical management.

You can make sense of the upward trend like this, heart abnormalities are found in approximately 60% of all individuals with Down Syndrome. In times past, these heart defects caused a shortened life expectancy of only a few years, but now, with modern technology, many of these children are able to have life-saving heart surgeries performed so that they can grow and develop normally.

More Information about Down Syndrome 101

Doctors now typically screen all newborns identified as having Trisomy 21 or Down Syndrome for heart abnormalities. This is done in prenatal screenings through high-level ultrasounds and at birth through a painless echocardiogram that allows technicians a view of the heart, its chambers and interworkings. Doctors now can put an action plan into place almost immediately so that these babies get medical intervention that will allow them to grow and turn into rambunctious toddlers and fun loving children who grow into teens and young adults. This means that the down syndrome life expectancy increases.

As there are other health-related issues that can often go hand in hand with a Down Syndrome Diagnosis, proper medical screening has become somewhat of a norm. This too has contributed to an increased Down Syndrome Life Expectancy.