An Answer

Since our precious child entered this world, we have had so many questions about his health. Most of these questions are ‘Why?’ questions. Why can’t my baby get the hang of nursing? Why does he sleep so much? Why is he delayed on his milestones? Why is he farsighted? Why so many allergies? Why does he have a hearing loss? WHY does my baby have SO MANY issues???? I always thought they must be somehow related.

After 2 years, we finally have an answer.

The answer came via mail on the morning on his second 2nd birthday party. It was a letter from the Geneticist we had just seen weeks prior. Judging by the size of the envelope, I knew it wasn’t going to be good news. I braced myself, and tore the envelope open… “the tip of the long arm of one of his 18th chromosomes is deleted”… “This confirms Graham has 18q deletion syndrome.”

*heart sinks*

I read the letter and its accompanying information several times, and then did my best to relay the information to Joel. Then I gave him the letter to read, while I scoured the internet. After about 20 minutes and a good cry between us, we had to wake our precious son from his nap to prepare for, of all things, a party. I pulled myself together remembering, “This is the same joyous child I put down for a nap 2 hrs ago. Nothing has changed; we just have an answer to all those questions.”

Celebrate we did. We celebrated the many blessings we’ve received over the last two years. Graham made us parents, made us a family. He is such a happy child who we love dearly. We couldn’t possibly love him more, no matter his genetic make-up. After the party, and an extra special birthday wish, we went back to our research. You could hardly tear me away from the computer until our appointment with the Geneticist the following week.

I’ll spare you the tutorial on Genetics and give a brief summary. We each have 23 pairs of chromosomes. The tip of one of Graham’s 18th chromosomes is missing, called 18q deletion syndrome. Some common characteristics include vision problems, hearing loss, hypotonia (low muscle tone), developmental delay, cleft palate, heart defects, growth hormone deficiency, reflux, hernias, skeletal abnormalities, allergies, facial physical characteristics, and some other things.

We made an appointment with the Geneticist the following week to discuss the next steps. By the time we got to the appointment we had done so much research that there were few surprises. Due to the above mentioned issues associated with this syndrome, his Geneticist recommended a barrage of testing, including cardiology (ECG and EEG), abdominal ultrasound, full skeletal survey (x-rays of entire body), metabolic screening, a lot of blood work, and an evaluation by a Neurosurgeon and an Endocrinologist. Additionally, we conducted a more detailed analysis to determine the extent of Graham’s deletion. On top of all of this, Joel and I had to be tested since this syndrome can be inherited or happen spontaneously.

The two weeks following Graham’s diagnosis were the difficult and heart-wrenching of my life. First off, we had to come to terms with the diagnosis itself, which will affect Graham for the rest of his life. Gone were the days of hoping he would catch up and this would somehow be over. Now we know that even if he does catch-up, he will always have to work harder than his peers. Good thing we’re hard workers in our family. Secondly, we were scared that one of these tests would reveal yet another health condition for our sweet boy who of course deserves none of this!! Lastly, we were facing the possibility of not being able to have more children. Sure we could adopt, but where would we find the time and money for that on top of everything else we’re already dealing with? I felt like all my hopes and dreams for my life, for our life, were crashing down. I couldn’t imagine having to deal with one more piece of bad news.

Fortunately, we received a lot of good news in the following weeks. Every test conducted on Graham came back normal. So, while I now can attribute all of his health issues (farsightedness, mild hearing loss, allergies, low muscle tone, delays) to his syndrome, nothing was found that we didn’t already know about. This made me feel good for two main reasons. The first and most obvious being, no new issues. The second being I now knew as parents we had not missed anything, nor had the doctors we had gone through such effort to select. Even more good news came when we found out that the chromosome analyses performed for Joel and I came back normal, meaning Graham’s syndrome happened spontaneously/randomly. Our risk of having another child with this is very close to that of the general population. We were elated…on cloud 9…never felt as blessed as we did after receiving such a string of good news! It’s amazing what we can take for granted isn’t it?

There is a wide range on how this syndrome expresses itself. Some are only affected physically, emotionally, or cognitively, most a combination of the three. The severity of the symptoms can also range drastically. The difficulty is that there is no crystal ball to tell you what the future has in store, but the nice part is that it leaves much hope. There are people with this condition that have gone on to get married and receive post-graduate degrees. We have much hope for Graham. We know that right now he is very high functioning for his syndrome. The fact that he walked at 17 months in itself is a miracle. Knowing all the challenges he has had to face has made me realize even more how AMAZING he is!!! In a way, I am glad we didn’t have an answer right away. Because of that our expectations of him were very high. We expected him to do all the same things his peers were doing and we pushed (still do) very hard. Day in, day out!! The last two years have made us realize how very capable he is! So, we will use the best possible information and treatments out there to continue to push him to reach all his goals and dreams.

For now, we will try not to worry too much, only enough to keep us moving in the right direction. He is happy and why shouldn’t we be? We just want to enjoy him and enjoy the journey. Isn’t that the best part?

Happiness is to be found along the way, not at the end of the road, for then the journey is over and it is too late. Today, this hour, this minute is the day, the hour, the minute for each of us to sense the fact that life is good, with all of its trials and troubles, and perhaps more interesting because of them.

- Robert R. Updegraff