A little Spanish for you all

I thought it would be important for me to post something in Spanish due to having family that are Spanish speakers. It's very important for me to educate people about Brielle's disease, so here it is..

I know I've been MIA for a few months, but I will soon catch you all up with our I-cell baby.

http://espanol.ninds.nih.gov/trastornos/mucolipidoses.htm
 
Disculpen que mi español no es muy bueno. Aquí esta un link que encontré en español de Mucoliposis.

Muchos no comprenden la enfermedad de Brielle que es Mucolipidosis II/I-cell disease. Entiendo que es una enfermedad que no han visto o están confundidos porque le paso o como paso. Para mi es importante educar a la gente de la enfermedad de mi hija, esta enfermedad es muy rara, es fatal, y no hay cura, ni tratamiento al momento.

Su papa y yo cargamos un gene afectado que es el de Mucoliposis, ese gene viene de nuestros padres, vino de nuestros abuelos etc. Como él y yo cargamos una copia de este gene, tenemos 25% posibilidad que esta enfermedad le pase a nuestros hijos. Así es como Brielle fue afectada, esta enfermedad es genética. Igual con la enfermedad de mi otra niña Jaileen que fue afectada de Autosomal Resesive Polycystic Kidney Disease.

Entiendo que es confuso por eso es tan importante para mi educarlos. La enfermedad de Brielle es muy seria. Ella se va a quedar pequeña así como es, a lo mejor crece un poco más pero no ha crecido o subido mucho de peso desde que cumplió un año. La expectativa de vida de esta enfermedad es muy corta, el promedio de vida es 3-5 anos, dependiendo su salud, unos viven menos otros más.  Esta enfermedad afecta el cuerpo mucho, estos niños se quedan bebes físicamente y mentalmente. Su esqueleto se daña muchísimo, tienen problemas de corazón, problemas respiratorias y muchos otros problemas.

Para mi es muy importante que mi niña este saludable, su salud es mi prioridad número uno, así es por eso que ella no puede estar con mucha gente o facilidades en riesgo de que se contagie con un virus. Sus pulmones están dañados y su vía respiratoria se esta cerrando y desafortunadamente con el tiempo se empeoran todos los síntomas. Si ella se contagia de una gripe, y se congestiona para sacarle la flema es muy difícil. La mayoría de estos niños mueren de problemas respiratorios, neumonía etc.

Gracias por tomar su tiempo de leer mi mensaje. Aprecio todas sus buenas palabras y mensajes pero no comentarios ignorantes.  Como saben, ya perdí una hija, así que mi punto de vista es muy diferente a otros. Yo tengo diferentes creencias, y no comparto los mismos pensamientos de otros. Entiendo que cada uno de nosotros tiene su propia opinión, la mía no es mejor de la de otros, igual que la de otros no es mejor que la mía.

Tengo fe, tengo fe que voy hacer lo máximo de mi hija, tengo fe que no nos vamos dar por vencidos, tengo fe que la voy hacer lo mas feliz que puedo y tengo fe que cuando le llegue su hora voy a sobrevivir. Este camino que voy a tener con mi niña no va hacer fácil, pero va hacer lo mas inmenso de mi vida!

I-cell it is…

The diagnosis has been confirmed; my little Brielle has Mucolipidosis II. It took us almost a year and half to figure it out, but I finally have an answer to all the questions that have been running through my head since the day she was born. Was it a shocker? Not really. I had a strong feeling this is what she was facing the day I started digging my claws into this horrible disease a few months back when I first heard of it. Looking at pictures of kiddos affected by this disease and comparing her to them, the characteristics were just too obvious. Naturally each child with this disease is affected differently, depending on the severity of each child due to the mutation of the gene and other affects of the disease. I could not believe my eyes when I was looking at these kids, I just could not believe a disease this terrible could exist on this earth. I guess at the moment I just could not believe that again my very own child could have a disease that would take them away from me far too soon. What are the chances? 1 in 640,000. So rare that there is not another known case in Arizona besides my little Brielle. I had never heard of this disease until it was mentioned by our geneticist. 

How do i feel? How am i doing? i am sad, disappointed, hopeless, and fearful. I am fearful for what her future holds. It’s unfair, very unfair. But who is to blame? No one. It’s a f***** up gene that was passed down to through generations. Both her parents are carriers, and 25% of our children had the chance of being affected, and it happened to be my precious Brielle. Am I angry? Of course, I am angry. She has this disease and there is absolutely nothing I can do to cure my daughter, nothing anyone can do. This disease has no treatment or cure. Before going to our appointment I had a talk with my Bri, I promised her that no matter the diagnosis, the challenges she will have to face, or the time she will be on this earth, I will be right by her side every step of the way; she will never be alone, I will forever be there to console her, I will help her fight until the end. I also promised her that I will try my best to give her a normal life, we will continue to be the strong, happy, optimistic family that we are and we will make the best out of her life.

Happy 1 ½ Birthday my sweet little BriBri!! ...big 18 in her world!

Here are some helpful links if you are interested in knowing more about this disease:

http://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta

http://www.ncbi.nlm.nih.gov/books/NBK1828/

http://www.ismrd.org/the_diseases/mucolipidosis_ii

https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/304/viewAbstract

...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!