MRI scan

Mathias first hospital stay for his MRI scan. This will be the first of our so called hotel stays. We stayed so long and for a few times that we jokingly termed it as a hotel stay, since I had to bring all his stuff, all my stuff, stay there for many nights, eat and sleep there. I remember those days with bittersweet nostalgia. I hated staying at the hospital as I couldn't sleep well. I was always getting up to check on him, the noise from the next bed, the interruptions from the nurses. It was basically draining. But I did it as we had to for the good of him.

Oh another hated thing was the non stop drop ins from training doctors. Everyone of them repeated the same set of questions and procedure till I felt like screaming at them. I get that they are trying to learn on the job but it would be preferable if they all came together at one time, or please take a look at the patient's file before asking whatever that could be found there. Some were polite while some were plain rude and obnoxious. They would proceed to ask many many questions about Mathias, why is he in the hospital, what is Menkes disease? What were the symptoms? Basically the entire history of Mathias. Then they would proceed to strip him down and look all over him. Mathias gets very annoyed with all this touching and stripping. He hates taking off his clothes and all this feely touchy that goes on all day long. Some even do it when he is sleeping. Until I scolded one of them. It is not easy for Mathias to fall asleep and for them to  be disturbing my sleeping child was really too much. Plus that particular group was super rude and stuck up.

I am happy to share with them about my child and the rare disease Menkes but please, we need our privacy as well and some time alone with our child. Anyways, its the usual when staying at the hospital. Sigh.

The little sweetie in hospital garb. :)

When he checked in, he had to start fasting till the next morning. Poor boy. He had never missed a meal before this. I had one super cranky kid. The time spent waiting for him while he was in the MRI was the longest I ever had to wait. Yeah, I know, it was just an hour or two but it felt like a lifetime to me. Not knowing what was going on inside and if he was alright sure killed me. Waiting for the results made me jittery cause at that point, we still did not know he had Menkes. This was where we met the visiting UK doctor. The scan showed that his brain formation(for lack of a better word) was at the 3 to 4 month stage. By right he should be about 8 months plus. Plus the scans showed that he had a minor stroke on one side of his brain awhile back. But they are not sure what was affected by it though. They couldn't tell me what was wrong with Mathias at that point.

Luckily for us, we had the UK visiting doctor. Because of her, they tested his blood for copper content. And that's how we confirmed that he was probably suffering from Menkes. They took his hair samples to get it checked. And eventually, we sent his blood and mine to U.S to get it confirmed. They couldn't do it in Singapore.

At that point, we were told of the prognosis that most Menkes babies do not live past 3 years of age. It was like a bombshell that went off in my life. Having to hear that there is no cure, and that there is nothing to be done, that your child will DIE, was horrific!

But life goes on doesn't it, whether you like it or not. We accepted the bad news and we made the best we could out of it. I will never forget that day. Up till today, its one of the worst words I ever heard in my life.

First Chinese New Year with him

 Stopped blogging for quite a few months. Had been doing basically anal things to get my mind off things. Will start to blog again on his life. Its now 9 months since he left us. His birthday is fast coming up. Two more weeks till he turns 4 yrs old. I hope he is going to have an awesome birthday party up in heaven with the rest of the Angels. Its a party where you will get to do everything you want to baby...and not just lie there and watch, never able to participate in whatevers going on.

We will be making a trip to the Botanical Gardens this weekend to let release some balloons for him. Will write messages and paste them on the balloons before releasing them. It will be a small celebration of him turning 4. We love you munchkins. Missing you so much that it hurts.


Pictures of him when we celebrated our 1st Chinese New Year in 2009. Don't he look cute? He probably thinks its hot.

I seriously miss those days. He was so nice and chubby. These were the good days before everything went dark for us.

Still staying with the in laws at that point. Here is a picture of him and his Grandma!

Touch of Hope Episode 7

In memory of Mathias Ong 2008-2011

4th to 6th months. Smily days!

This is a photo of one of the last times I saw him laughing or smiling at will. This was taken a few days before Christmas. He was happily playing with my dad.

Taken on the same day while he was at home with us. We just bought him this hippo chair for Christmas. Don't he look cute! Was hoping it would help him to sit up some.

Out at Paragon Shopping Centre. We were there to see the Christmas light up of Orchard Rd. Looking back now, it was easy to bring him out then as compared to later. But at that point, I found it heavy to carry him. Hahahaha. And of course, he couldn't lift up his head which made it a little harder to carry. What with his weight and all.

These were pictures taken from October to November while he smiled or laughed. He was such a chirpy baby. I miss you so much my little chickadee!

A picture of him and papa! He is the love of our lives! Even now!

Videos of him!

It is slightly better now as compared to the earlier days of losing him. I don't cry as much. Although the ache is still there all the time. I tend to compress it within me. I know there is nothing I can do about it and I need to continue on. I will always look forward to when I get to see him again in heaven. It is pure torture for me but life is harsh.

I still have Zebedee to look after and bring up to the best of my abilities.

First 3 months of his life

I am thankful for my husband. He is super supportive. He never complained that he had to take care of a son like Mathias. I know there are men out there who would have deserted their wives should this have happened or would rather not have bothered at all. Here he is feeding Mathias. Of course this picture was taken when we had no idea what was about to happen. But even then, he made sure that he was there for Mathias. Many a times, he will be the one to tell me to let it go. Ignore whatever thats making me vexed. Especially when we brought Mathias out with his feeding tube. He never once said, lets not do it cause people are staring. Thank you hubby for being there and being strong for both of us.

Here's Mathias with his stubborn and angry expression. He hated taking off his clothes. Hahaha. I think its cause of the doctors and nurses who kept stripping him to take a look at him. Whenever he had an appointment with his doctors, the first thing they do is take his clothes off to check him. Mathias came to dislike all the probing and checking. Hehe..... Look at that pissed off face!

He hated bathing too. After every bath, he looks like that. Boo hoo hoo.......... he is my very own grouchy baby!!!!

But he looks like an angel while he is sleeping. I loved to stare at him sleep. He is all peace at that moment and he looks so sweet. Such a cutie pie!

When awake, he will have tons of facial expressions. Its comical to watch him. I love his smiles the most at that point and the little sounds he makes especially after milk. He is a jovial and talkative boy. He would chuckle and laugh when I sit next to him. Those are special memories to me now. After he lost his ability to laugh and smile at will, I treasured those memories and moments when he suddenly smiled at us or laughed. It was super difficult to get those on camera. But we tried anyway.

Another one of Mathias hated things, was the exercises that I put him through each day. As mentioned before, he had tons of appointments with doctors which included therapists too. One of those were for his neck. He had tons of neck exercises each day. And each time, he would scream at the top of his lungs at me. I hated those sessions, but I had no choice. He had to stretch his left side of his neck muscles as they were a little shorter that the right side. I forgot the term they used to call it. We made him lie on his side as well. An hour on each side. Here he is lying on his front with his neck to the side. He would fight me each time. He had to do exercises to strengthen his neck muscles too as seen below. I hated it each time we had to do all these exercises but I gritted my teeth and did them with him. He probably hated me at that point. What with the way he was screaming at me.

I was happy to stop all these exercises when Dr Lai decided that if non of these were going to benefit him much, lets not do it anymore unless I wanted to. I decided that since he hated it, and there was no marked improvement unless an operation is done, lets just stop pissing him off with all these sessions everyday. This only happened after the diagnosis. We decided that we would only do things which bring comfort to him. And if anything that does not seem to have any contribution to that, we would stop it.

See that thing on his little hands? Yups, they said he needed that too. A brace to keep his fingers from clenching. Didn't help one bit. He was a little too smart for it. He either swung it off. I have no idea how he figured that one out. Or he would pull his thumb out of the brace. No mean feat for the little one. Eventually, we gave up. I did finger exercises with him, which was more beneficial. It worked and he actually stopped clenching for awhile. At least until the stroke. After that, his hands were usually clenched up. It is a trademark with most Menkes disease patients. Something I noticed.

Videos of Mathias in hospital

During the 5 days while you were in K.K Hospital. I couldn't wait for you to come home to me.

Getting ready to leave the hospital for home at last!

From the point when we were told you have limited time with us. We decided we wanted quality over quantity with you. Our goal was to make life as fun as possible for you. To create many wonderful memories together. Bring you wherever we went. Anything that was possible, we would do it together. We wanted you to have as good a life here with us as possible. Our goal was not to prolong your time here if its painful for you or not comfortable. It was to make it as comfortable and fun filled as possible.

We started going on holidays together! We drove up to Malaysia as you seemed to love going on holiday with us. We couldn't fly as we were not sure if you could take the air pressure. So we stuck to driving. Which we made into our routine. I loved and enjoyed those times with you. Especially bathing together in the bathtubs. Those were priceless memories.

Decisions

You are perfect! I cannot imagine a more perfect child than you Mathias. It makes no difference that you are not genetically perfect in medical terms. You are my precious baby boy. To me your mother, you are a normal baby boy. I don't think that the extra care needed is a burden nor is it difficult. They are just part and parcel of motherhood to me.

When we first confirmed that you were suffering from Menkes. I blamed myself. In most Menkes cases, its the mother who is a carrier and passes it to the male child. As seen in my earlier posting, the mutated gene is carried on genetically. But in my case, it was a total freak case. We sent my blood together with Mathias blood for testing in the States. While waiting for the results, I kept blaming myself for passing it to him. I was so upset. But it turns out that I was not a carrier and that it was a random case. How in the world does that happen?

That settled, we had to decide on whether we wanted to put you on the copper injections. We asked Dr Lai, to source for the copper supplements. They took a long long time sourcing for it. Eventually, they found that it was manufactured in the hospitals where they had Menkes patients. And not pharmaceuticals as they had searched for a long time in that direction.

Once found, we realised that we couldn't bring it into Singapore. Guess what? We couldn't bring it in cause it was not approved by the medical or health board here. No permit to bring it in. The hospital involved, gave us the ingredients list for us to manufacture it here but we could not do that either as there is not permit or approval. The hospital, namely KK had to apply for approval and that itself would take a long time.

In the meantime, while all these were happening, we were having a struggle deciding whether to put Mathias through the injections. As we heard from the doctors that the supplements work best when administered at birth. When started later, it may or may not have any affect or there could be side effects and poisoning. Plus he would need 2 injections a day, everyday. Did I want to put my child through that? All that pain?

I struggled with all these questions. What is the best for him? What should I do? Those were horrible days.

Finally, we made up our minds that we would not put Mathias through the injections. Not that I didn't want to save him. But that we would want him to live his life as pain free and comfortable as possible. Knowing that it is going to be very tough for him and limited time with us. We wanted him to have as good a time with us here as possible. I sometimes still wonder if I made the best possible decision at that point? Could I have made his life better if we started him on the injections although it was so late already? Would I have prolonged his time here so that I could still hold him now? Would he have been stronger? All these I ask myself still.

So finally when the doctors got back to me that if we really wanted to go ahead, they would have to apply for the permit, I told them our decision not to put Mathias through the injections. We also discussed that if I wanted another child again, we would then do the testing so that we know if the child is a carrier. If he is, they would start manufacturing the supplement.

At that point in time, there was another family with a child also suffering from Menkes. I never got to meet them. They had also opted not to use the supplement. I spoke to the doctor who was seeing them just to get some ideas. Had hope to link up with them but it seems that they were not open to the idea. It was a very lonely time. Not knowing much about this disease, and trying to cope. No one to talk to about what was happening was all so scary. I went online to search for support. It was a shocking discovery that no one here in Singapore had any inkling about Menkes at all. After much searching, I finally found a Menkes Organisation in the States. It was set up by another mother just like myself. Who's child also suffered from the same disease and who was trying to create more awareness of this disease to the masses. I am so thankful I found them. From there, I got to know many moms who were going through the same issues as me. The support there is tremendous. We linked up through facebook. It was such a relief to know that I was not alone. Thank you Jamie Eckman!!!!!!! Check out the website: http://themenkesfoundation.org/

After we made our decision not to administer the supplement, we tried to make Mathias as comfortable as possible. We continued as before until something crops up. He took his milk and was pretty happy most of the time. Here is a photo of us when he was less than a month old.

My dad feeding him.

On one of our outings.

29th June 2008 The day you were gifted to us!

It is now into the 4th month since you have left me my precious! Its been so tough but I will continue to strife to be happy. I have many memories of us together to keep me going to the day I get to see you again my love.

I am starting this blog so that I can jolt down all the wonderful times we have had together and also for others to come to know about you and the terrific battle you fought while you were here with us. I want them to be inspired by your life!

Lets start at the beginning then. Even before we found out that you had Menkes.

The day you were gifted to us. 29th June 2008, 9.14am at K.K Hospital!

Such a tiny little bundle of life! So miraculous! I named you Mathias Ong Lian Zheng! (Gift of God) That's what your name Mathias meant! To me, you were literally a gift from God! We didn't plan you at all. You decided that you wanted to be our child.

I enjoyed carrying you to term. Feeling you kicking and moving inside of me was the best experience ever. I will never forget that.

It was even more amazing when you were born and crying in the birthing room. You were all wrinkled and covered with blood and mucus but you were the perfect little baby boy of mine. All seemed fine and we were happy to settle into parenthood.

No warning signs until later that night when you were taken to the special ward downstairs for monitoring and oxygen. And even then, no one came to inform me about that as well until the next morning when I wanted to see you and then the nurses of the ward realised that you were not in the nursing ward but downstairs in the special ward.

You were sent for tests and more tests as no one was able to tell what was wrong and all seemed normal. You stayed another 5 more days before I was able to bring you home with us. You came home with lots of appointments scheduled at the Hospital with various doctors.

We were positive that they were wrong in their fears. We kept the appointments but we believed that you were fine. You grew well, but as the months wore on, we realised that you were not hitting the milestones. Being first time parents, we were optimistic that you were just slow. Why would we suspect that you were not well.

After seeing many doctors there, we finally met Dr Angeline Lai, Genetics dept. She was the first one who gave us any sense of hope that something will be done. We sent you for MRI scan which was postponed so many months cause you were sick n had tons of phlegm. Finally you went for the scan and we found out that you had suffered a mini stroke. Which may be why you stopped smiling and talking to us. By then, you were already 8mths old, but the scan showed that your brain development was about 3 to 4mths.

And the most amazing thing was, we met this visiting UK doctor doing the rounds with the KK doctors and when she saw you, she suspected that you had Menkes. Just from the texture of your hair! They did a blood test which showed that the level of copper in your blood was low. High chance that you had Menkes. We then sent your blood and my blood to the States to get it tested and finally we had a name to what's causing you all the delayed growth.

With all these confirmed, I finally had to face the most horrific truth. My child is suffering from Menkes Disease. I would have to deal with the fact that my child may not live to his fullest. That I may have very little time with him. How does one deal with that and accept it?

It was the lowest period in my life up to that point. I cried and cried for the what could have been. I was depressed and couldn't cheer up. All the lost future staring at my face. I would never see my child crawl, lift up his head, call me mama, walk, talk, go to school, run, grow up, get married, grow old. How does one deal with all that?

But my husband reminded me aptly at the point that, no matter what, he is still a gift from God!!!! And we will accept it and be happy with it still. I swear, sometimes my husband is wiser than me. How did I overlook that fact. From that point onwards, we both decided that we will make the best out of what we have. We will treasure it and create many wonderful and happy memories from it. No matter how much time we will be given with our child, we will make it count. We will give him the best of everything and make it the happiest time he will have here on earth with us. We will have that when he is no longer here with us to remember him with.

Hence, that is how we have lived our life from that moment on!

No path is too difficult if we stand by each other!

For those who need further clarification on what is Menkes:

Menkes syndrome

Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease

Last reviewed: May 15, 2011.

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.

Causes, incidence, and risk factors

Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute and absorb copper. As a result, the brain and other parts of the body do not get enough copper.

Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys.

Menkes syndrome is inherited, which means it runs in families.

Symptoms

• Bone spurs

• Brittle, kinky hair

• Feeding difficulties

• Irritability

• Lack of muscle tone, floppiness (hypotonia)

• Low body temperature

• Mental deterioration

• Pudgy, rosy cheeks

• Seizures

• Skeletal changes

Signs and tests

There is often a history of Menkes syndrome in a male relative.

Signs include:

• Abnormal appearance of the hair under the microscope

• Abnormally low body temperature

• Bleeding in the brain

• Slow growth in the womb

In males, all of the hairs will be abnormal. In females who carry this trait, only half of the hairs may be abnormal.

Tests include:

• Serum ceruloplasmin

• Serum copper level

• Skin cell (fibroblast) culture

• X-ray of the skeleton or x-ray of the skull

Genetic testing may show a change (mutation) in the ATP7A gene.

Treatment

Treatment usually only helps when started very early in the course of the disease. Injections of copper into a vein or under the skin have been used with mixed results.

Expectations (prognosis)

Most persons with this condition die within the first few years of life.

Complications

• Seizures

• Death

Calling your health care provider

Talk to your health care provider if you have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy.

Prevention

See a genetic counselor if you want to have children and you have a family history of Menkes syndrome. Maternal relatives of a boy with this syndrome should be seen by a geneticist to find out if they are carriers.

Review Date: 5/15/2011.

Reviewed by: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Disclaimer

Copyright © 2011, A.D.A.M., Inc.

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