MY BABY GIRL’S DIAGNOSIS – DOWN SYNDROME

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:

1. 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.
2. 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.
3. 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).
4. 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.
5. 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

I love you, Amelia Lucia Ledesma. You're simply amazing. You're our little angel on earth. 

P.S.

 A Down syndrome diagnosis is not a sentence nor a death sentence. It is merely a statement of condition that you can work around with. A diagnosis does not define a person or how your life will be. 

MIRACLE PREGNANCY @40

FOREWORD - I wrote this post to inspire other women who are suffering from fertility issues. I wanted others to remain hopeful in God's grace and mercy. I wanted to share the story behind my miracle pregnancy in my 40s. 

After my miscarriage in 2012, I worked on getting my mind, body and soul to heal from this heartbreak. I did yoga and Zumba. I was into healthy eating. But health issues continue to hound me (thanks to my genes). I have asthma, skin asthma, Polycystic Ovarian Syndrome (PCOS), and hypothyroidism. Then in 2015, I found out that I have endometriosis, endometrial cysts in my left ovary, multiple myomas and adenomyosis. My two auto-immune diseases and PCOS already made it difficult for me to conceive. Then add in the adenomyosis and endometriosis to the mix, my chances of having another baby was low. Plus the fact that hubby was onboard his ship, half of the year. Father Time was ticking away too. 

The odds were definitely stacked up against us. Our faith and trust in God kept us going. I firmly believe that God answers our prayer/fervent wish in His perfect's time. When I was wondering if we would ever have a chance to have another baby, God answered me through a dream. I dreamed that we were having a baptismal party. I was the one holding a baby. This dream took place two months after the miscarriage in 2012. I held on to this. 

Fast forward to August 2017, my hubby, Nelson, and I were having fertility treatment. I was taking Ovamit for 2 cycles, but no two lines yet. Hubby and I tried Eastern Medicine too. We had couple acupuncture sessions with Sister Regina Liu in Panay Avenue, QC. I was a patient of Sr. Regina after my miscarriage. The acupuncture would treat my hormonal imbalance and strengthen my immune system. She told me that our chances of conceiving would be better if hubby would also undergo acupuncture sessions. I really had to convince Nelson about this since he doesn't like small and multiple needles on the body. We had three sessions of acupuncture to align or harmonize our energies. 

However, Nelson was supposed to go back onboard in last week of October 2017. So we stopped the fertility drug (Ovamit). But God had other plans for us. Hubby's vacation was extended for another month. 

A week before I took the pregnancy test, I had a vivid dream. Again, we were having a party, a baptismal party. I was holding a baby girl. In my dream, she was named Amelia. Days after my dream, I took the pregnancy test, 2 lines appeared. Lo and behold! Tears welled in my eyes. I showed Nelson the test, and he couldn't believe it. He was speechless!

Because of the heartbreaking loss before, we decided to lie low and not tell anyone right away until further tests. We told my OB-Gyne about it. She advised us to wait for another 2 days and have another test, since it was only Day 40. On my second pregnancy test, there was only 1 line. We were confused with this result. My doctor explained that maybe it was too soon, and the hormones were not high enough to register in the test kit. She also said that it might be a chemical pregnancy. So we had to wait for another 3 days (Day 45) to take another pregnancy test. But deep inside, I knew that I was already pregnant. 

In between waiting, my days were chaotic. My Dad, a survivor of 3 mild strokes, suffered a heart attack and had an emergency angioplasty. Then on the following day, hubby had to embark his ship. 

Day 45 came, I took another pregnancy test. 2 bright red lines appeared on the stick. Oh what a glorious Monday that was! I could not stop smiling about it. Nelson was ecstatic but also worried for me.

Getting pregnant at 40 entailed a lot of tests and precautions. For this pregnancy, I had 4 doctors to monitor me and my baby. I would always be grateful to my OB-GYNE, Dr. Shiela Fajardo-Hernandez, Perinatologist Dr. Carmen Perez, Endocrinologist Dr. Thelma Crisostomo and my Allergologist Dr. Manuel Canlas. This was my team of doctors who helped me in my high-risk pregnancy. My endocrinologist had to monitor my hypothyroidism and made sure my TSH level (Thyroid-Stimulating Hormone) remain below 2.0 every month. She explained that this is crucial to the baby's brain development. While my allergologist monitored my oxygen level regularly (oxygen level should remain high/normal for the pregnancy to thrive) and assisted me in keeping my asthma and allergies at bay. It was like I was living/working in Makati Medical Center, since I was always there for my appointments with my doctors and tests. 

I was on house arrest for this pregnancy. I was not allowed to travel farther than Manila. For someone who was used to travelling a lot, this was a big adjustment for me. My doctor told me to avoid driving so that there will be no stress for me. Hello, Grab!

In my fifth month of pregnancy, I was diagnosed to have gestational diabetes. i had to check my blood sugar, thrice a day, walk for 10 minutes after every meal. I had to strictly follow the nutritionist's personalized diet plan for me. Also, I had to monitor my blood pressure every day upon waking up. It was really a lot of tests for me. I endured all the needles and intrusive scanning, because at the end, we'll be able to have our baby. My cognitive scan proved what I have known all along. We were going to have a baby girl! Dream come true! I've always wanted to have a baby girl, a mini-me (perhaps). Everything was going well except that my baby's weight was below the average. The doctor prescribed me to eat more beef/meat, to have more protein intake. I was allowed to eat more steak and burger. My son, Joaqui, loved this part. He was my food buddy. He enjoyed the steaks and burgers. My baby's weight was slowly catching up. 

Because of my gestational diabetes, the Perinatologist required me to take a fetal heart scan or fetal echocardiography at 26 weeks. She explained to me that a high or a spike in blood sugar can sometimes cause fetal heart defects or sometimes seizures. This was one of the scariest parts of my pregnancy journey. I was so nervous when they did the fetal heart scan. I thank God that the fetal scan was clear and okay. Whew!!!

With this in mind, I really followed my diet and exercise regimen. I did yoga, walked a lot and did push-ups against the wall. I thought that my arms were slimmer than when I was not pregnant. On my 33rd week of pregnancy, I lost a lot of weight, 10 pounds. This alarmed my OB-GYNE, so I had another ultrasound just to check if everything was going smoothly. It went well. 

During my regular/weekly check-up for my 37th week of pregnancy, I had a stress test. Everything was normal. There was no sign of contraction or stress on the baby. So we went home. Traffic was horrible along EDSA (Makati-QC). It was Friday the 13th of July, payday also. When we got home, the condo was having its scheduled pest control measure (insecticide spray). To avoid the harmful chemical, we had to go a nearby mall. We walked around and had a snack. When we got back home, I noticed a brownish red smear on my underwear. When I peed, i saw a big blob of blood. i told my OB-GYNE about it. She said that my mucus plug came out already. She asked me if I was having contractions already. I replied that I felt some contractions but they were not regular. She instructed me to monitor my contractions. After awhile, I told her that my contractions were 10 minutes apart. She ordered us to go to the hospital right away, since the baby would come out soon and would not wait for another day. 

Our hospital bags were ready. I was giving last minute reminders to our helper, and was trying to wake up Joaqui so we could tell him what's happening, that his baby sister was about to come. I didn't think that Joaqui understood what was happening since he was so sleepy. We left the house around 9:45 pm. 

Traffic was light. We arrived in Makati Medical Center within 30 minutes. I was so happy that Nelson was present to witness the birth of our baby girl (with Joaqui, he was on-board their ship). He was "tuliro" or panicky. He couldn't believe that it was happening. He couldn't find our camera because I was the one who packed our stuff. 

I was more nervous this time around, given the high-risk pregnancy. Even after I was given the anesthesia. I was wide-awake and shaking from head to toes. I was having a hard time breathing. My doctors told me to calm down. So I remembered my yoga breathing and to just focus on one focal point (for me it was the huge light). Nelson was also reassuring me that everything will be okay. Then I heard our baby cry for the first time. They cleaned her up and placed her on my arms. It was one of the sweetest and amazing moments in my life. After 12 years of waiting, my miracle baby and rainbow baby came out. Welcome to the world, Amelia Lucia Ledesma!

All praise and glory to God!