Foreword: In celebration of Down Syndrome Awareness Month, I’m sharing
our journey as parents of a special needs baby who has Down syndrome.
On July 14, 2018, 12:05 am, I gave birth, via
Caesarean Section, to our baby girl – Amelia Lucia or simply Lia to us. She
weighed 5 pounds and 4 ounces. I heard my OB-GYNE commenting that my baby has
chinky eyes, just like me. When our pediatrician, Dr. Vina Cabahug, visited us
a few hours later, she didn’t dilly dally. She dropped a bomb. She told us that
our baby girl has most of the features of the babies with Down syndrome. She
was so sure that our baby has this genetic chromosomal disorder. Down
syndrome occurs when an individual has
a full or partial extra copy of chromosome
21. This additional genetic material alters the course of development and
causes the characteristics associated with Down syndrome (source: National Down Syndrome Society). Down syndrome varies in severity among
individuals, causing lifelong intellectual disability and developmental delays.
It's the most common genetic chromosomal disorder and cause of learning
disabilities in children (source: Mayo Clinic)
Lia has upward slanting eyelids, flat facial profile, small head,
smaller ears, short hands with a single crease on the palm, and the big space
between her toes. As she enumerated Lia’s features, my tears just kept rolling.
My husband and I were devastated. So many fears going through my head. We asked
if the diagnosis was fool-proof. She replied that Karyotyping, a blood test,
would confirm the diagnosis and identify the kind of Down Syndrome Lia has. Karyotyping is a
test to examine chromosomes in a sample of cells. This test can help identify
genetic problems as the cause of a disorder or disease (source: Medline Plus).
In my head, my party just stopped. It was as if someone popped all the
balloons in my party. I thought that my baby girl would never experience –
attending parties/prom, travel adventures or live independently on her own. For
someone who has a classic type ‘A’ personality like me – highly competitive,
centered on achievement and success and coming from a family of cerebrals, it
was hard for me to accept the news.
Then our pediatrician told us of the implications of this diagnosis. She
said that people with Down syndrome have an increased risk for certain
medical conditions such as congenital heart defects, respiratory and hearing
problems, Alzheimer’s disease, childhood leukemia and thyroid conditions. While
she was explaining all of these things, I just grasped Nelson’s hand. Maybe
because our pediatrician saw our anguished faces, she reminded us that Amelia
is still our baby. In spite of all these things, she will be loved. She can
live a normal life, with early intervention. She is a precious gift. She told
us that she would just need extra care and support; and that Kuya Joaqui will
help her too.
After she
left, Nelson and I started to research on Down syndrome. These are the facts we
discovered about it.
- Down syndrome
occurs when an individual has a full or partial extra copy of chromosome
21. This additional genetic material alters the course of development and
causes the characteristics associated with Down syndrome
- Down syndrome is
the most commonly occurring chromosomal condition. Approximately one in
every 700 babies in the United States is born with Down syndrome – about
6,000 each year
- Down syndrome
occurs in people of all races and economic levels
- The incidence of
births of children with Down syndrome increases with the age of the
mother. But due to higher fertility rates in younger women, 80% of
children with Down syndrome are born to women under 35 years of age
- People with Down
syndrome have an increased risk for certain medical conditions such as
congenital heart defects, respiratory and hearing problems, Alzheimer’s
disease, childhood leukemia and thyroid conditions. Many of these
conditions are now treatable, so most people with Down syndrome lead
healthy lives
- A few of the
common physical traits of Down syndrome are: low muscle tone, small
stature, an upward slant to the eyes, and a single deep crease across the
center of the palm. Every person with Down syndrome is a unique individual
and may possess these characteristics to different degrees or not at all
- Life expectancy
for people with Down syndrome has increased dramatically in recent decades
– from 25 in 1983 to 60 today
- People with Down
syndrome attend school, work, participate in decisions that affect them,
have meaningful relationships, vote and contribute to society in many
wonderful ways
- All people with
Down syndrome experience cognitive delays, but the effect is usually mild
to moderate and is not indicative of the many strengths and talents that
each individual possesses
- Quality
educational programs, a stimulating home environment, good health care and
positive support from family, friends and the community enable people with
Down syndrome to lead fulfilling and productive lives (source: National
Down Syndrome
Society)
The
three types of Down syndrome:
·
Trisomy 21. About 95 percent of the time, Down syndrome
is caused by trisomy 21 — the person has three copies of chromosome 21, instead
of the usual two copies, in all cells. This is caused by abnormal cell division
during the development of the sperm cell or the egg cell.
·
Mosaic Down
syndrome. In this
rare form of Down syndrome, a person has only some cells with an extra copy of
chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal
cell division after fertilization.
·
Translocation
Down syndrome. Down
syndrome can also occur when a portion of chromosome 21 becomes attached
(translocated) onto another chromosome, before or at conception. These children
have the usual two copies of chromosome 21, but they also have additional
genetic material from chromosome 21 attached to another chromosome.
There are no known
behavioral or environmental factors that cause Down syndrome.
Translocation Down syndrome
can be passed from parent to child. However, only about 3 to 4 percent of children
with Down syndrome have translocation and only some of them inherited it from
one of their parents.
When balanced
translocations are inherited, the mother or father has some rearranged genetic
material from chromosome 21 on another chromosome, but no extra genetic
material. This means he or she has no signs or symptoms of Down syndrome, but
can pass an unbalanced translocation on to children, causing Down syndrome in
the children. (Source: Mayo Clinic)
While I was still
processing these loaded information, my sister-in-law Christy assured us that
Lia can lead a normal life with early intervention. She knows a lot of
individuals with special needs who were able to attain their dreams. Still I
tried to process all the information that were given to us. With the gnawing
pain from the surgery, plus my reaction to the pain relievers which made me
woozy and nauseous, and with the big news, my tears just kept rolling again. I
was in denial. I said to myself that maybe the test will turn out negative. The
next day, when I was breastfeeding Lia. I saw her face, her eyes, nose, ears,
neck and feet. I finally saw the real her. Her eyes were pleading me to just
accept her as she was. No matter what the test says, she is our much-awaited
rainbow baby girl. She is a precious gift from God. When I looked at her, I
knew that she has Down syndrome, what the pediatrician said was true. Right
there, I realized that my heart just expanded even more. I would do anything
for my baby girl. I would make sure that she would have all our support to live
a meaningful life. Nelson and I discussed it that it looked like that the Karyotyping
is mere formality for us. We’ll take it one step at a time. We’ll focus on
taking care of Lia.
Relatives
visited us. They tried to comfort us and assured us of their support. Then my
BFF January dropped in for a visit. She knew that something was amiss and that
I was not my usual self. I told her of the diagnosis. I broke down. She said
that she can relate to what we’re feeling, given that she’s also has a special
needs kid. She mentioned that babies/kids with special needs would develop at
their own pace; and that early intervention helps a lot. She reminded me that
God gives us trials to sharpen us and that He does not give us challenges that
we cannot handle. Later on, she sent me blog/articles about Down syndrome. I
felt better when I was able to verbalize my thoughts to my BFF. Her visit,
words of wisdom and handy articles eased my mind. I felt so relieved that we’re
not alone in this journey. One of my
Forever Friends (my high school barkada) – Jhoy reached out to me too. She is
also a special needs parent. Her words stayed with me, “the adventure will be
different, but we will still reach our destination.”
During our
confinement, the pediatrician or her interns checked if Lia had a heart murmur.
She had a hearing test. Thank God! Lia’s hearing was 98% okay! My recovery from
caesarean section was going well except for my reaction to the pain reliever.
On the third day, we were discharged, but Lia needed to have blood
extraction first for the Karyotyping. It took one whole day before they were able
to get the necessary amount of blood from Lia. It was heartbreaking for Nelson
and Kuya Joaqui to see the needle/s on Lia and hear her cry so loud. They both
cried. They were the ones who accompanied Lia to the extraction room.
When we got
home, we made a lot of research on this chromosomal disorder. We found out that
there a lot of individuals, who have Down syndrome, who overcame obstacles.
They were inspiring in their way – breaking the myths and perceptions. A good
example is Collete of Colletetey’s cookies. No one would hire her because they
deemed her not to be fit; so she opened her own business and sold a thousand of
cookies already. Her company has employed people with disability. She also
lives independently. We also read the story of Kanazawa Shoko, a woman with
Down syndrome, who is now one of Japan’s most acclaimed calligraphy artists.
My sister,
Beng, also referred us to DSAPI or Down Syndrome Association of the
Philippines, Inc. She instructed us to reach out to this group through their
Facebook page. And we did. Oh boy! We learned so many things about Down
syndrome. It felt so good to know that we’re not alone with what we’re going
through, that someone could relate to us.
As a family,
we made a decision that we would live it one day at a time. We would take care
of Lia. We would make sure that opportunities are provided for her to grow,
mature and live a meaningful and well-rounded life. Nelson and Joaqui were
assuring me that we got this. Team Ledesma would handle this journey together. I
know it’s not right to burden our eldest with this huge responsibility.
However, our son not only promised in words, but also shown it in his actions,
that he would take care of Lia when we’re too old or no longer around. I’ve
seen how he deeply loves his baby sister.
As I look
back at how I reacted initially about Lia’s condition, I felt so ashamed. I
felt so guilty that I was not that ecstatic after giving birth. I did not post
our pictures right away. I avoided social media. I only answered direct
messages. So many thoughts and worries were in my head. I felt that our baby
Lia deserved a better welcome from us. That night, I apologized to Lia. I told
her how sorry I was that I let my ego and the fear of unknown overwhelmed me. I
promised Lia that she would be loved and cherished; and that we would always
take care of her and be proud of her, of who she is. Then Lia simply grasped my
finger.
To date, Lia
is 19 months old now. The Karyotyping test confirms that Lia has Down Syndrome. She has Trisomy 21. She is healthy and strong. She does not have heart
defect/s nor thyroid problems. She is thriving. She is able to eat and digest
any kind of food. She is able to sit. She can swim. We’re still practicing her
walking and standing. She can say “Mama,” “Papa,” “Oya,” “Yay,” and “Mamam” for
water. She can communicate with us to express her wants/needs. She can imitate
the actions in Cocomelon. I know and believe that she will master those skills
at her own pace. We started her early intervention – physical therapy when she
was 3 months old. We continue to do her home physical therapy. We found a very
good Physical Therapist – Teacher Anna Domingo. Our pediatrician referred us to
her. Lia likes her. I’m fortunate that I’m a stay-at-home mom. I’m able to
supervise Lia’s daily regimen of exercises and do her massages as well.
After a year
and half passed since Lia’s birth, our family is closer than ever. Lia has
brought so much joy into our lives. I have come across so many realizations in
this new chapter of our family life, to wit:
- Humility - Humble yourselves before the Lord. Bow before him and pray for guidance. Admit it to yourself that you’re not in control of everything and let God handle it for you. This is a crucial step for me. It is the first step of accepting challenging things in life.
- Appreciation of small things – Lia has taught us to be grateful always. I appreciate the small things that I have overlooked before. I appreciate the effort more than the result. I am grateful for every smile or any small act of kindness thrown in my way. When you realize how hard it is for some, you appreciate what you have.
- Perspective/Mindset – It is the only thing that limits us from attaining
our dreams/goals in life. It also blocks our happiness. If we keep on insisting
of what our life should be and missing out on what’s really happening on the
ground, then we end up miserable and frustrated. With Lia, we needed a new
perspective of what our life should be, of our family, of our faith, and of our
unconditional love. We focused on what she could do and not what she could not.
We’re no longer obsessed with meeting the milestones like a deadline or within
the prescribed timeframe. We believe that Lia will hit those milestones at her
own pace, in God’s perfect time. I think that each individual is unique. We
have different talents and skills. I believe Gardner’s Theory of Multiple
Intelligence. Gardner theorizes that people do not
have just an intellectual capacity, but have many kinds of
intelligence, including musical, interpersonal, spatial-visual, and
linguistic intelligences (source: Very Well Mind).
- Compassion and understanding of others – Now, I understand other moms who have special needs kids. Parenting a typical child is already challenging and you add in more extra tasks that one has to take, like bringing your kid to different doctors’ appointments and physical therapy/occupational therapy sessions. I learned that each of has many things on our plate and we don’t know each of their struggles. So be kind to anyone that you meet.
- Passion and purpose - I’m at this point in my life that I always assess and seek out my passion and purpose (I feel old, LOL) in life. Also I’m a firm believer that everyone that we meet or cross path has some purpose in our life. At the start, I thought God gave Lia to us because she needed the kind of care that we could offer, that she was the one who needed us. Now I realized, it was us who needed Lia more. She taught us real unconditional love. When I became a mother, I thought I knew unconditional love. But my heart expanded even more with Lia. She taught me to look past the diagnosis, condition or her disability and just love her for who she is, her essence. She made us realize that we should not let a diagnosis or condition define who we are. We are more than that. Lia is more than her condition. She taught me to value the little things and savor each moment of our lives. We celebrate her milestones like it was the championship because it took a lot of hard work to reach that. Through Lia, I found my calling or advocacy. I could use my writing skill to raise awareness about Down syndrome through social media. I could share information to debunk the myths and misconceptions surrounding this condition. I could reach out to fellow special needs parents who struggle with our situation. Also, I would lobby for inclusion of special needs individuals in school and work place. I would fight for the rights of special needs. I never knew that I could be an advocate for special needs individuals until Lia came along.
Our baby girl Amelia Lucia simply has brought so many blessings in our
lives, material things or nuggets of wisdom. She is indeed the light of our
family.
My song for Lia is Bruno Mar's Just The Way You Are. Whenever I hear this, I cry. I know it's an upbeat song but I can't seem to stop crying. This is my favorite stanza:
When I see your face (face, face...)
There's not a thing that I would change
'Cause you're amazing (amazing)
Just the way you are (are)
And when you smile (smile, smile...)
The whole world stops and stares for a while
'Cause, girl, you're amazing (amazing)
Just the way you are (are)
Yeah
There's not a thing that I would change
'Cause you're amazing (amazing)
Just the way you are (are)
And when you smile (smile, smile...)
The whole world stops and stares for a while
'Cause, girl, you're amazing (amazing)
Just the way you are (are)
Yeah
I love you, Amelia Lucia Ledesma. You're simply amazing. You're our little angel on earth.
P.S.