...and the wait continues!

I was so anxious to finally get answers, yet I walked out without an official diagnosis. My little BriBri is so rare that they still can’t figure her out! A few days ago on Thursday 4/17, I met with Brielle’s geneticist who has been great and very helpful along the way. He’s dealt with other children diagnosed with LSD’s, which has been great for us because he understands the urgency of the situation. He walked me thru the results, which he said surprised them as well. An enzyme assay test was done which is supposed to give the enzyme activity levels to help narrow down which LSD she may have. They were expecting to see results clearly showing enzyme levels connected to one of these two diseases. However, the enzyme levels came back normal for all but one, and even that one was very close to normal. What our geneticist was able to tell me was from the results is that it is highly unlikely she has Hurler (MPS I). It is more likely that she has I-Cell (ML II), but because her enzyme levels are too normal for I-Cell also, there is also the possibility that it can be a different LSD. 

We know she does have a LSD due to the damage that the disease is doing to her skeletal system, organs, and brain; but we still do not know which one. For now, the plan is to run the same tests again at the Atlanta lab to ensure that the results were accurate. However, they will also be running tests at a different biochemical lab in Philadelphia with a doctor that specializes in LSD’s. We will be at the PCH lab this upcoming Monday morning to have more urine and blood drawn from Brielle. It is very difficult to push these negative thoughts and worries away from my mind. Throughout this whole process my emotions have been a roller coaster. I walked out without a diagnosis, but what does it matter what the exact diagnosis is; it really doesn’t change the overall outcome. She has one of the LSD’s (Lysosomal Storage Disease) for which the end result is the same, very rare and fatal. From my research and observations; including talking to many parents affected with that disease, I knew whatever Brielle had was more severe than MPS I. 

I know every child is different; it all depends on the severity of the disease and how much it has affected their bodies. The delays and the damage this disease has already caused my little Brielle’s body is more than an MPS I child.  I don’t call her little Brielle for nothing; she is 17 months old and weighs 17lbs. That was not a typo…17 freakin’ pounds! I have struggled to get this munchkin to gain any weight during the last 8 months, it’s very difficult to get her to eat much food.  Her joint mobility is really bad; she cannot raise her arms above her shoulders, she cannot stand and she cannot bare much weight on her legs. With all of her delays she is considered a baby of 6-10 months. I can go on with all of her issues, but I’ll stop here. If you met her you would not think there is anything wrong with her unless you were familiar with these diseases. The one thing that gives it away is when I am asked her age.

I was thinking of lying about her age every time a stranger asks me that question.  She will forever be the 8 month old baby to strangers. Why not? It’s too long of a story to repeat and I may not ever see them again. It’s the harsh truth, but as human beings we are only aware of what we have experienced and something this rare is not experienced by many people. But… this brings me to the reason why I started this blog in the first place. I want to share her story, let people know about this awful disease. My little Brielle may not have a treatment or cure for her disease now, but one day I hope there is a cure.

Tick tock… tick tock

Well, the day has finally arrived and our appointment is tomorrow 4/17/14 @ 1pm at PCH. We’ve been anxiously waiting to get the test results for Brielle. Is it going to be MPS I (Hurler Syndrome) or ML II (I-Cell Disease)? What obstacles lie ahead for my little Brielle? Now that we finally have the results, I wish I never went looking for answers. I feel crazy just thinking about it; I’m constantly looking at the clock and wishing I could somehow stop time. I get this adrenaline rush, the same kind of rush I get right before starting a race. I just want to run! Run away from reality, I don’t want to accept it; I am in constant denial. However, I am reminded of the harsh truth every time I look at my little baby. The evidence is there, this disease is damaging her  and the more time I go without knowing these results, the more time I am sitting here useless not being able to help her.

I was so happy before the diagnosis; I had accepted my little BriBri with all her little issues; issues that seemed so small before knowing about these diseases. I was so sure we were going to overcome them all; her not sitting up, crawling, walking, her lack of joint mobility, late speech and everything else! I really thought being the mommy that I am (a total push-over), I was going to get this baby all caught up. I have always been a very positive and optimistic... Things always seem to work themselves out, I always find a way to see the bright side. Nothing can really weigh me down, except my children… they are my kryptonite!

I want to thank everyone that has reached out with all the positive thoughts, prayers, emails, texts, calls, etc. Even family and friends that we have not talked to in a while and strangers, which are not such strangers anymore. THANK YOU!!! xoxo

Brielle eating mango!

The Story of My Life: B.R.I.E.L.L.E

4/12/14 – Today Brielle is 17 months old!

Welcome to my blog! First off, let me start by telling you that this is not my first time traveling down this dark and painful road. I had the unfortunate luck of losing my daughter Jaileen in 2009 to another genetic disease (autosomal recessive polycystic kidney disease). I still remember it like it was yesterday, the most bittersweet moment of my life. 
I would like to share Brielle’s journey to help educate and guide others, and to keep family and friends updated. Follow Brielle’s journey as she shows everyone that even though life has dealt her a crushing blow, she will continue to be the joyful, playful and a sweet little girl that will continue to create many wonderful memories for everyone that loves her.  

Brielle was born on November 12, 2012; she weighed 6.3 pounds and measured 19 inches. She passed all of her newborn tests and by all accounts she was considered a healthy baby. However, I knew from the start; the day I gave my sweet little Brielle life, that there was something different about her. I could not pinpoint exactly what it was, but as a mother you just know when something is not right with your child. She seemed very tiny and weak; didn’t have much movement and her cry was different; like a newborn kitten. My concerns only grew as I saw her struggle physically through the first 6 months of her life. I knew there was definitely something wrong then; at this time her sisters had already accomplished many of the milestones that she was struggling with.

Throughout this time I had made her pediatrician aware. He wasn’t overly concerned early on, but as the months passed by he was starting to worry about all her delays. He had urine and blood tests done on her and those came back normal. At about 8 months, he scheduled and appointment to see a neurologist. During the appointment, the neurologist did mention that she looked very different than us, was low in muscle-tone, and had developmental delays; but overall, she was not very concerned as well.  She also scheduled an MRI of the brain and spine to reassure her diagnosis. A few weeks later our fears were dismissed as we got the results and everything came back normal. Due to her developmental delays, we were advised to start her on occupational therapy, speech therapy and physical therapy.

I had accepted that my baby was delayed and for the next few months, i was focused on her therapies. I was hoping that I would see a great improvement with therapy. Although I did see a big improvement, she was still way behind in her development.  At around 10 months, her pediatrician told me he wanted us to see a geneticist. After months of trying to get her through the hoops of seeing a genetic counselor, we were finally able to schedule an appointment on 4/1/14. I really thought that once I had taken my baby home, we were safe and sound; I was going to watch her grow into a beautiful little girl like Ashley and Isabella. Then again, life had other plans. A few minutes into our appointment, the geneticist told us, “I know what is wrong with your baby. She has a lysosomal storage disease.” I had absolutely no clue what that was. As he broke it down, came to find out that it was a diagnosis never expected.

The disease she was diagnosed with is life threatening and there is no cure. Lysosomal storage disease is a genetic disease, and although her dad and I don’t have it, we do carry the defective gene (passed down from one or both of our parents). At this moment we are not sure which one of the metabolic LSD’s she has until we get her results back, which we are expecting within the next few days. From Brielle’s characteristics, the geneticist is testing her for Hurler syndrome (MPS I) and I-cell disease (ML II). These two diseases are terrible; they will be doing a lot of damage to my baby girl’s body. She will not be able to live a normal life, and the life expectancy is very short. Of the two, I-Cell is more severe and the one lacking much treatment. My wishful thinking is that when we get her results they tell me she has none and that she was misdiagnosed. However, putting miracles aside and based on the research I’ve done, I really fear that it is going to be I-cell.

If we’re lucky and the results come back with MPS I, then that gives us a lot more hope for her future. From the research I have done, there are some treatments that have been successful in slowing down MPS I. The most successful would be stem cell therapy; either through a bone marrow transplant or an umbilical cord blood transplant. She will also need enzyme replacement treatment. The stem cell treatments represent the best change at fighting this disease, but the procedure itself can be fatal. It’s an arduous process that can take anywhere from 6 months to almost 2 years.  For now, she’s had blood and urine tests, and x-rays done on her arms, legs and spinal c scan, and echo scan. These tests have revealed additional concerns with her heart and ribcage. Yesterday, we were told that she has a dilated aorta, which they will discuss with us in our next appointment along with the final confirmation of her diagnosis and her future ahead.

Everyone has their own battles to fight…some bigger than others. For now, I am continuing to educate myself about this disease and trying to stay positive and hopeful for my little girl. As hard as it was for me to be faced with Brielle’s heartbreaking diagnosis, I am thankful that she is here to give us these adorable smiles and fill our lives with many wonderful memories. I don’t see myself losing another child, so I will fight for her and be by her side every step of the way. I’m not sure what will be left of me, how long this journey will take or where it will end for me; but, I do know that it pales in comparison to the battle that my daughter is facing. She has been blessed to have encountered a great team of doctors, specialists, and therapists that have been great support and are doing everything possible to expedite the next step of her journey!