Tag Archives: parenting

Setbacks…

14 Jun

Argh. Elliott has a serious case of the snots. Gross, I know. But this kid’s nose is like a running faucet. You know the kind where you think something you did makes a difference because it momentarily stops leaking. But then you climb into your bed, exhausted, a few nights later and all you hear is the drip drop drip drop of the water? THAT IS ELLIOTT!

We’ve tested his immunology and everything comes back within normal range or borderline low. We give this kiddo every supplement you can think of: Vit. C & D, calcium magnesium, iron (he does have an iron deficiency). elderberry and vegan probiotics, cod liver oil and a multi.

We also started him on some chinese herbs from a new holistic developmental pediatrician, Dr. Stephen Cowan, who is amazing. He really looks at the whole child rather than an individual system. With his help, we did start to see some signs of improvement in the snots. We noticed a strong correlation between his diet and the excessive mucus. Specifically we had to decrease dairy and gluten. In the past, we’d tried elimination diets and reduced diary independently, then gluten. This didn’t make a lick of a difference. Combined, we saw improvement!

But then they came back. It is really hard when we are out and about with gluten being handed out like vitamins at parties, etc. So I’m pretty sure, he got a little too much of gluten. And now our poor little guy is all congested again. I’d say out of everything we deal with, this can be the most frustrating. As a mama, we want to keep our little ones safe, healthy and happy. But there are little setbacks and we just have to plug through and try to conquer them.

And for the record, when I hear the things I say and I completely realize it might sound like I have it all figured out. I am this self reflective person who gives everything to her kiddos. But that is far from the truth! My smile is quite often forced and I am tired. But I refuse to give up or throw in the towel. Because setbacks are just that….setbacks…..they are not the end of the road and there is still another day. And obviously we are talking about more than just snots here. Alexei and I have had a tough life in the 5 short years that we’ve been together. Little things can often feel like final straw, the end of the line.

I found this picture of me rock climbing waaaay before I had kids and it touched me today. Reminded me of a time when I found the space to do what I loved. Rock climbing is like this mental game between you and the wall. There’s nothing stopping you but your own limitations. Whether you get the next rock depends on what you choose to work on and overcome. There was this one path I bouldered in Tallahassee that just kept getting me. I would get to the last rock and fall, over and over again until my butt was bruised. Sometimes I only went back at it because I was so damn angry that I kept falling.

Other times, I went back full of optimism, calm and ready to try again. It didn’t matter how I went back, just that I did. I had to work on areas where I was weak, strengthen my shoulders and fingers. And I had to have patience, something I am really lacking.

As I sit here today, feeling sad and tired, I keep thinking about that course and the day I made it to the last rock. The owner of the rock climbing gym actually left it there longer than he planned (they usually swap them out to keep the climb fresh) because he knew what it meant to me. It took over three weeks and I climbed every single day. But god, when I got that last rock and held on, I soared. So I’ll keep plugging through even if sometimes, I really don’t want to. Because I want to soar again.

Dinner Time Woes

12 Jun

Am I the only mama out there that finds dinnertime the most exhausting time of the day? Everyone is screaming, something is always burning (eeeek, assuming this is ok as long as it isn’t Lila or Elliott). No matter how much I plan, kids are crying foul and asking for a snack 15 minutes before it is ready. Since Elliott is on a minimal gluten and dairy diet, grabbing something quick to shut them…..errrrrr I mean keep them happy can be hard. That is until I started stocking up on avocado. Armed and ready, I had it cut up and handed it to them before they could be the melodramatics.

So lesson learned. And sheesh, it didn’t take long enough. Four years into being a parent, I have learned slicing up an avocado as my weapon and keeping the troops full. Best thing about it? Avocado is a super food! There are so many nutritional benefits to this little guy, you simply can’t feel bad about giving it to your kiddo. Image

Link

The Special Connection: Sharing Our Feelings—The Good and the Bad

11 Jun

I am published!

This was a nerve-wracking article to write! I knew that I had a message to share and needed to get it out. But you never know how people are going to respond and receive the message. Thankfully I was given a platform where I could genuinely express what some of this process has been like for me. I hope that you can help me spread the word. Share this article! It doesn’t have to be a family of special needs, give to anyone you feel would benefit from it.

Lookin’ Good.

8 May

We recently completed several of the tests that needed to take place after our last appointment with the geneticist. I have to say the anxiety build up until the day of the internal sonograms was excruciating. Thankfully, the little guy did beautifully (with the help of a mild sedative) and all organs were intact.

Although we were told it was unlikely that there was going to be a huge rearrangement of internal organs, it is REALLY hard to find comfort in statistics at this point. The reason they suspected Elliott’s internal reproductive organs were in tact is the normal appearance of his external organs. In other words, if Elliott had ambiguous genitalia (which he does not have), it would be more likely for a rearrangement internally.

During my research of 45Y/46X, I spoke with a therapist who told me that in some studies there has been evidence of a higher proportion of undetected 45Y/46X genetic makeup in the LBGT population. I am by no means suggesting that being a member of this community is a defect, merely sharing something I found interesting. I read heartbreaking stories of families who had to ‘pick’ the gender of their child when they were born with MGD. And on the opposite end, there are people who believe that unless there is a health risk, the child should not have reassignment surgery. I don’t know how I would have reacted if this was our situation. But I can’t lie…I am thankful that the decision was made for us.

Masquerade.

21 Apr

Lila’s birthday party is today. It is the day after we got Elliott’s CGH results back and final diagnoses were shelled out. Even though I am absolutely dreading the thought of having a party, I know the show must go on. I refuse to be less of a mother to Lila than I am to Elliott. And trust me, you don’t have to tell me that I could have canceled it and Lila would have been fine, etc. Sometimes we can’t help how we feel and it is better to just give ourselves the freedom to experience the feeling. And for me, canceling that party would have meant that Lila was suffering and she didn’t deserve that. She is amazing.

We all know I am not a very religious person but I have a new understanding for things. I look at Lila and think to myself there has to be a reason that she is this phenomenal big sister. Don’t get me wrong, she’s had not-so-nice moments, including er…..a little smack or two when she was angry. But, she genuinely takes care of Elliott even when we aren’t looking and has from day one. So the show must go on. Because she deserves it. Sometimes typically developing kiddos have special needs to and I never want to forget that.

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.