Hello World!

20 Apr

Welcome to our new blog! As promised, this is the space where we will share our journey in life. Writing in a blog has taken a whole new meaning for me now. It is a space to be honest and share the experiences I have had and the insight I’ve gained.  And perhaps even look for insight where I feel lost and struggle.

As most of you know, we have a very special little boy on our hands. Actually we have two very special kiddos. Lila is 4 years old and a sassy lady who means business. When we became her parents, our worlds turned upside down. We went through the same process that most people go through, the ups and downs filled with abundant joy and frustration of raising a typically developing child.

When my son Elliott came along, I expected it to be easier. I thought that having a second child would be extremely difficult and an adjustment but surely I had the skills to calm and soothe a newborn and support their development. Yet somehow, it didn’t feel that way. Instead, it felt as if things were just slightly off. His weight gain was low, he needed a lot of support to learn new concepts and didn’t seem to progress organically. Yet at the same time, he was this easy going happy baby. He kissed, walked and played. A natural comedian, he loves to make us laugh by falling down intentionally. To most, he appeared ‘normal’. I was even told that my background was influencing my fears. Prior to having my son, I graduated in law school with a child advocacy fellowship. I took a particular interest in special education law and ended up teaching special education where there were no full time legal positions available.

After a year of searching, we finally got some answers. The diagnoses are confusing at minimum. Elliott has two separate syndromes that, believe it or not, seemed to occur independent of each other at a very early stage (most likely the embryonic stage).

There is one word that will help understand these two conditions so it seems like a good starting point. Elliott has what is called mosaicism in his genetic makeup. Mosaicism is a condition in which cells have a different genetic makeup. This condition can affect any type of cell, including: blood cells; egg and sperm cells (gametes) and skin cells.

Elliott has a condition called 45Y/46X (mixed gonadal dysgenesis). What this means is that at some point during cell division, one of the Y-chromosomes dropped off in Elliott’s genetic makeup. Although he physically presents as a male without any external abnormalities in his genitals, he does not carry the complete set of Y-chromosomes that a male should have. This was probably the most shocking diagnosis even for the geneticist and certainly one that nobody expected to show up in labs. However it has been confirmed through multiple lab reports. The amount of cells that have the standard makeup of XY chromosomes and the ones carrying the XO (meaning where the syndrome occurs and the Y dropped off) can vary from child to child.

In Elliott, it appears to have affected in a significant portion of his genetic make up (For example 41 out of 50 cells analyzed had the XO makeup rather than XY). The way this syndrome works is it can affect just the blood (meaning genetic make up), it can affect the cells that eventually form the organs, or it can affect both. At this point, we don’t know the extent it has affected his internal organs. The geneticist said (and we agree) that it is quite remarkable Elliott has intact external genitalia given the percentage of XO in his blood work. But keep in mind, we don’t know what this means for his internal organs.

Our next step in terms of this specific syndrome is to determine whether Elliott’s reproductive organs are in tact and gender appropriate. There is a possibility that he has the internal reproductive organs you would expect to see in female or internal organs that are a combination of the two and potentially unrecognizable. We will be doing a sonogram of his reproductive organs to get a better understanding of what lies ahead in the upcoming weeks. He might need surgery and we’ll cross that bridge when we get to it. Right now my heart is breaking at thinking of Elliott going through numerous operations and I can’t really handle that possibility just yet. But I know that we will gather the courage and strength to do whatever we need to do.

That brings me to the second condition. In addition to 45Y/46X, Elliott has a condition called 18p syndrome. For me, this syndrome makes the most sense and explains a lot of what we have seen in the past year or so. But let’s back up a second. What we do know so far is that the cells affected by the 18p syndrome are the same cells with the missing Y chromosome. So far, our geneticist cannot find a single reported case of these two genetic syndromes coexisting. You’ll notice we are not using words like rare, uncommon, significant, etc. in this post. Well we don’t really feel comfortable with relying on statistics any more. Why? Well taking all of Elliott’s syndromes into consideration (including craniosynostosis which he had neurosurgery for at 5 mths), the chances of them coexisting is somewhere around 1 in a trillion, so obviously words like “rare” and “unlikely” mean nothing at this point, and in fact feel like a stab in the heart.

18p syndrome affects the short arm of the eighteenth chromosome (everyone usually has 46 pairs of chromosomes, one “long” and one “short”). It means that the cells of the body have a small but variable amount of genetic make-up missing. There is a large disparity in the symptoms for children with 18p syndrome. It is common for them to be smaller in stature, which is frequently caused by deficiencies in growth hormones. They also tend to be chronically sick until around 5-6 yrs of age. This has certainly been the case with Elliott and we will be working with an immunologist to get a better grasp on this symptom.
The range of cognitive impairment varies from mild to severe. For me, one of the scariest things is the “wait and see” that we will be facing for the years to come to see what exact symptoms will or may occur.  In Elliott’s case, the impairment appears to be mild or, in all hope, negligible.  We are trying to give Elliott a heavy level of support and he definitely shows that he can improve well (and actually has a great sense of humor!) with this level of support. One of the biggest areas children with 18p are impacted is expressive language, which we have certainly seen with Elliott. But again with early intervention supports in place, we have seen remarkable progress.

Just like the 45Y/46X, we have to check to see which of his organs the 18p syndrome impacts. There is some concern that his thyroid is affected because of conflicting lab reports that have indicated either hypothyroidism or hyperthyroidism. Similarly, we have to take a look at most of his organs via sonogram to see where the Mosaicism is present (e.g., heart, kidneys, etc.) that could potentially pose severe health issues. In other words, there are a lot of tests coming up.

There is one thing I cannot give a lot of information on because, quite frankly, we are absolutely terrified of this. It has been the most traumatic bit of information for us. In Elliott’s MRI, he presented with signs of Leukodystrophy, which is white brain matter disease. The geneticist suspects that this is not the case and that it is the result of his syndromes in how his brain appears (he bases this on one reported case of a child with 18p who had the exact same MRI results). But we have to continue to monitor his brain with another MRI in 6 months to a year to rule Leukodystrophy out.

While we work through the emotions that come along with these diagnoses, we are reminded how important it is to cherish and celebrate every single milestone. We know that no matter what happens in the future, we have a very special and happy baby and although we’ll never feel comfortable using words like unlikely, rare, significant (etc.), the one way we are comfortable using it is to describe Elliott. He is 1 in a trillion and that makes him so incredibly unique.


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