So heartbreaking…
Posted by Melissa | Filed under Gaucher Disease
I just finished reading a guest blog post on Carrie Ostrea’s blog about 23-month old Ethan, and my heart broke for that sweet little soul. He has just been diagnosed with Type 2 Gaucher since they originally thought it was Type 3.
He’s 23-months old…1 month shy of his second birthday, and most kids with Type 2 pass away by the time they are 2 years old.
Click Here to read his story and leave a comment for Ethan and his mom.
Children Fighting For Their Lives & Those We’ve Lost
Posted by Melissa | Filed under Gaucher Disease
As mentioned in a previous post, Carrie Ostrea is working with the National Gaucher Foundation to get our children listed in their newsletter in an effort to raise awareness, and hopefully get things moving more quickly on finding treatment and a cure for children with Types 2 & 3.
So far, these are the precious children who are fighting for their lives right now (as posted through the Yahoo! group set up for parents who have children with Gaucher).
Fighting Gaucher: 11 Children
* Addison B. from Virginia. Type 2, age 7 months (diagnosed at 7 months).
* Alexa I. from Kansas. Type 3, age 3 (diagnosed at 18 months).
* Ethan M. from Kansas City, Missouri. Type 2, age 23 months (diagnosed at 11 months).
* Hannah O. from The Woodlands, Texas. Unknown type, age 9 months (diagnosed at 5 months).
* Jordell W. from Mason City, Iowa. Type 3, age 3 years (diagnosed at 18 months).
* Kyle I. from Ontario, Canada. Type 3, age 10 months old (diagnosed at 8.5 months).
* Mario M. from Jamaica West Indies. Type 3, age 13 years 8 months (diagnosed at 5 years).
* Raechel R. from Tennessee. Type 3, age 17 years (diagnosed at 6 months).
* Tylan C. from Nevada. Type 3, age 4 years (diagnosed at 18 months).
* Connor M. from Leachville, AR. Type 3, age 11 (diagnosed at 15 months).
* Savannah H. from NC. Type 2 or 3, age 5 years (diagnosed at 1 year).
Children We Have Lost To This Disease: 7 Children
* Avery M. Type 2. Diagnosed at 4 months, passed away at 15 months.
* Joseph D. from Illinois. Type 2. Diagnosed at 12 months, passed away at 3 years 26 days.
* Kyle from New York. Type 2. Diagnosed at 7 months, passed away at 25 months.
* Aaliyah L. from Kentwood, MI. Type 2. Passed away just shy of 3 years (2008)
* David E. from Mexico. Type 2. Passed away at 7 months (2007).
* Josephine R. Lampitt from VA. Type 2. Diagnosed at 7 months, passed away at 9 months. (Feb `09)
* Ryan R. from TN. Type 2. Diagnosed at 11 months, passed away at 2 years.
And there are still more parents submitting their information that haven’t yet been added to this list.
This completely blows my mind…here we have this incredibly rare disease, yet everywhere you turn there are children diagnosed with it. And the list keeps growing. It makes me wonder, how rare is it really?
Considering how long it took Kyle to get a diagnosis. His first symptoms (enlarged liver, spleen) showed up at about 3 months and he wasn’t diagnosed with Gaucher Type 3 until he was 8.5 months old…5.5 months to get an answer.
So I have to wonder, how many other children are there around the world who haven’t yet been given a diagnosis? What about the children in countries where this isn’t seen, like the child in Jamaica who is the only child there with Gaucher disease? How many children are not being diagnosed because of poverty, lack of knowledge, misdiagnosis (like when everyone was so sure Kyle had cancer), etc.?
How long will it be before the rare diseases like Gaucher become as commonplace as cancer or aids?
A child of a parent who is a carrier of Gaucher has a 50% chance of being a carrier – now think of how that can snowball…as the mutated gene gets passed on and on and on…and spreads, and spreads, and spreads…
The chances of 2 carriers getting together and having children is rapidly increasing – more than I think we’re even aware of. And for every child those 2 carriers have, there’s a 1 in 4 chance their child will get Gaucher Disease.
Yes, 1 in 4.
My husband and I had 2 boys and one of them has Gaucher Disease Type 3…no, these aren’t astronomical lottery odds at play. That’s why I think it’s so damn important that these rare diseases get as much interest and funding as the other common diseases and cancers.
I mean shouldn’t we be finding a treatment and a cure before they become so wide-spread that they get added to our everyday disease list?
My Cherished Angel
Posted by Melissa | Filed under Pictures
First Treatment Date Set
Posted by Melissa | Filed under Appointments, Treatment
Finally, some progress has been made – we have a date for Kyle’s first enzyme replacement therapy session.
His appointment was originally set for tomorrow, but unfortunately, his Doctor was not able to be there to supervise his treatment, and then the doctor they had lined up to replace Kyle’s doctor is also away. So with no doctor available to supervise him tomorrow, his first treatment has been scheduled for May 13th.
They are starting him out at a very high dosage because they really want to get his liver and spleen back down to normal, so that means he’ll be hooked up to an IV for 6 hours. When I asked how long it would take to see a difference, she said it would happen really quickly – not overnight – but we’ll see an improvement pretty fast because he’s on such a high dosage. Once things start to go back to normal, his dosage level will go down and he won’t have to spend so much time tied up to an IV.
I’m so glad that he’s finally going to get the treatment he so badly needs. This will increase his comfort level, his breathing, improve his appetite (I think because his tummy will have room to expand and he won’t feel full after so little), he’ll grow (I’ve heard of kids having growth spurts after getting started on treatment), it will prevent bone pain and crisis…basically it will stop and reverse all the symptoms of Gaucher disease, except for the neurological effects associated with Type III.
How old is your baby?
Posted by Melissa | Filed under Home Life
This is a question I get asked a lot, the same as any other mom. So when we’re out running errands, the check-out gals, the grandmothers, and other mothers are all asking, “How old is your baby?”
So when I say that he is 10-months old, you can see the surprise and question in their eyes. So the next question that naturally follows is, “Was he a preemie?” When I say no, then they’re really confused.
They’re wondering why he’s so little, why he doesn’t have the chubbiness of other babies, and why he doesn’t seem to like other 10-month old babies they know.
It’s frustrating and heart-breaking for me. God how I wish that he was just like every other baby. There’s not a day that doesn’t go by that I wonder why he can’t be like every other baby. Why does he have to suffer? Why can’t we be like every other family dragging their 3 healthy kids around, dealing with normal parenting issues? Why do we have to wonder how many days he has left with us?
It’s hard to believe that he’s going to be a year old on June 27th. His disease has delayed so many things that are normal for other babies.
He can’t crawl. Though he tries his hardest, pulling his legs up onto his knees and moving himself just far enough to grasp that toy out of reach.
He can’t pull himself up on furniture, toddling from one thing to the next.
He can’t pull himself up in his crib to greet me each morning. In fact, his crib is still at the highest level made for newborns.
He can’t get into a sitting position on his own.
He has trouble balancing himself when he sits in a shopping cart, so we always try to get the cart with the baby seat attached.
Because he lacks rapid eye movement, he can’t watch his brother and sister race by him just by moving his eyes back and forth quickly. He has to turn his entire head to see something. He can’t just look at me when he hears me talking to him, he has to turn his entire head and focus on me.
All the things he can’t do like other babies breaks my heart everyday. God, how I wish he could just be normal!
I try not to think of it, I try to just focus on all the things he can do. But it’s hard when you see the confusion on the faces of those who ask how old my baby is. Hard when you see other healthy babies, in all their chubby glory.
But Kyle can also:
Roll all over the floor from one place to another. He did this right on target for his age.
Laughs and smiles.
Respond to those who talk to him.
Play with toys in his exersaucer.
He can sit up on his own. Though I do have to sit with him because after awhile of sitting he’ll just throw himself back. And I think it’s because with his big tummy, the pressure of it pushing everything up into his lungs gets to be too much, so he throws himself back to relieve the pressure.
He can jump in his jolly jumper.
He can hold his own bottle.
He can eat baby food like strawberries, blueberries, cereal. And now he loves the Primo chicken and vegetable soup when I blend it up like baby food. He loves cheezies and baby cookies.
So I try to remember all the things he can do. He’s my sweet cherished angel, and I love him with all my heart and soul.
I pray that God doesn’t take him home too soon…
Fighting For Gaucher Types 2 & 3 Children
Posted by Melissa | Filed under Research
I received this email the other day from Carrie Ostrea who’s 9-month old daughter Hannah is fighting Gaucher’s Disease Type 2 or 3. I’m really excited and amazed by what she is doing to help our children, and I really believe this is an important step in raising awareness and funds to find treatment and a cure. I’ve sent her Kyle’s information and picture to be included.
This is her message:
Hey,
I’m sending this message off the Gaucher’s mailing list, as this message is just for those of us with children who are still fighting against neuronopathic Gaucher’s Disease. Would you believe that there are thirteen families in this group?
I have been in talks with the National Gaucher Foundation, and they are enthusiastically joining our fight for our kids. They are creating an entire GD23 section within their organization for creating awareness, raising funds, and to help further research into finding our kids a treatment. The list that they have already offered in just a couple of conversation is just overwhelming, and I’m so excited about the fact that this is just the vehicle we need to help raise awareness and funds!
I’ll share much of it on the mailing list later this week, but one of the things they are going to do is to create a GD23 section in their quarterly newsletter. I am going to be in charge of this section. I want the GD1 community to not only know that GD23 exists, but how devastating THEIR disease is to families. Almost all people with GD1 think that is it — just some painful physical symptoms and lifelong treatment. They don’t have any clue as to what GD23 really are. They are our biggest audience, and the ones most willing to help us spread the word and help raise funds.
Within this section, I want to give updates on ALL of our children that are still fighting. I hope that all of you are willing to participate in this quarterly section. It is SO important that people reading this quarterly newsletter (which goes not only to the entire GD community but also physicians offices, related disease organizations, etc.) get to know our kids and want to fight for them with us.
Finally Getting Treatment
Posted by Melissa | Filed under Appointments, Updates
I finally got a call from the genetics/metabolics doctor this afternoon. She said the enzyme replacement therapy medication has been released for Kyle. They’ll be in touch with me to set up a date for his first treatment, and she’s looking at it being next week. Woo hoo! We’re finally getting somewhere!
When asked if I had any other questions, I asked her if the HLA typing results had come in yet for the bone marrow transplant match. Unfortunately, they haven’t, so we’ll have to hang tight and keep praying that Jason (Kyle’s 4-year old brother) is a match.
But I did forget to ask about the results for the hearing/brainwave test they did last Thursday. His hearing is perfect, they know that already, but what they want to know his how his brain is processing. So I’ll have to be sure to ask about it when they call to set up his first treatment appointment.
Wordless Wednesday
Posted by Melissa | Filed under Pictures, Wordless Wednesday
Tags: baby, brothers, Pictures
A New Day…What Will It Bring?
Posted by Melissa | Filed under Home Life
Today is so beautiful. The crisp morning and the warm sun tickle the senses and promise good things to come. I plan to sit on my porch with my first cup of coffee in a few minutes while my 4-year old races around the yard and my precious little one still sleeps in his bed.
He sleeps more than the usual baby because his lowered blood counts make him more tired. He also doesn’t eat as much as a normal 10-month old baby does. His main source of food is still formula. He’ll have at least 3 bottles through the night and another shortly after waking. Then a little while later he’ll have breakfast, either cereal or fruit.
I worry because his arms and legs are so skinny. He’s missing the usual baby chubbiness that my other 2 children had. His spleen and liver are so big that they’re cramming everything else inside his tummy, which causes him to feel full after eating a small amount. He does drink 5-6 oz of formula every 2-3 hours during the day, but when he has solids for breakfast, lunch, and dinner, it’s only about a small jar of baby food.
Gosh, my other 2 were eating big jars of baby food and full bottles by this age, as well as a variety of table foods. Oh, I wish they would hurry up and start enzyme replacement therapy (ERT). ERT takes care of all the other symptoms of Gaucher Disease – it’s just not capable of crossing the blood-brain barrier to get rid of Gaucher cells there, so it doesn’t help the neurologic effects of this disease.
But the ERT treatment will eventually return his spleen and liver to normal size so he can eat normal, and breathe normal. He breathes really quick and shallow because his lungs don’t have room to expand to full capacity. Oh, how my heart breaks with all that he has to deal with on a daily basis.
We’re supposed to hear something this week about when we’ll be starting treatment. It costs thousands of dollars per treatment, so it has to be approved by our government, which means a lot of red tape to get through before approval. It certainly won’t be fun for him because it means an hour drive to the hospital every 2 weeks, then he has to have an IV in for at least 2 hours, but it will be worth it knowing that it’s helping.
I’m praying today that we’ll hear that our 4-year old son is a bone marrow match for Kyle – it’s his best chance of not rejecting the transplant. Please God let something go our way for a change!
No Word Yet…
Posted by Melissa | Filed under Updates
Today has officially been 2 weeks since myself, my husband, and our 4-year old son had blood work done to find out if any of us are a bone marrow match for Kyle.
But the day went by without a phone call, and now I’m worried that none of us are a match so they didn’t bother to call. For some reason a phone call from those people seems to be too much to ask. Whenever I call their office to get an update, I never get a call back and then they wonder why I keep talking to the doctors in Toronto.
To be honest, I don’t like the doctors in London. I feel as though we don’t really matter, that we’re not doctors so we don’t need to be kept in the loop until decisions are made. But I don’t care if you don’t know what’s going on yet, or you don’t have answers, at least have the decency to tell me that so I don’t wonder and worry.
Whatever happened to the bedside manner of the old days?
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