Q. Will you please educate me? I also read Reagan Leigh's blog and know she is four. Is this a fatal disease or is it something they can survive? I would be grateful for some more info. Such beautiful little girls.
A. From Maggies mom.
Mitochondria affect every cell in your body except red blood cells. They provide more than 90% of the energy in your body. If they are damaged or don't work right then your body can't function properly. It depends on a lot of things on how much you will be affected by this. There are many types of the disease some fatal and some not. Mitochondrial diseases mainly affect children but they are becoming more common in adults. Researchers are finding links to Parkinsons, Alzeimers, Autism and some cancers. There is no cure and no real treatment at this time.
If they want more info they can go to www.umdf.org
Maggie had complexes I, III, IV and V. She had a chiari malformation, a tiny very floppy airway (laryngomalacia and tracheomalacia), hypotonia, nueropathy, liver disease, problems with her kidneys, heart problems including arrhythmias, prolapsed valve and dyskinesia of the left ventricle, high lactate, develpmental delays, malabsorption, dysautonomia, GI failure, atelectasis and other respiratory problems requiring night time ventilation, severe growth delay, GERD requiring Nissen and probably more that I'm forgetting.
Q.I've been curious, and I hope this isn't too much of an intrusion - what have you learned from raising Arina, being as she's your first "typical" (I mean, you know, she seems like a typical toddler to me!) child with Down syndrome? What have you learned or what's surprised you the most? Just curious. :)
A. Wow, I feel like a new DS mom all over again! I find myself asking questions to other moms that I really should know since I have a 6 year old with DS. But Jax is also CP, and will never do most things that other kids will! It actually makes me more angry, having Arina, towards the ignorant people. You spend 5 minutes with her, and the only way you know she has an extra chromosome is by her sweet little features. I'm sure you all can tell that I, as well as the rest of the family, absolutely adores her! She is everything I thought having a little girl would be. Mondo just told me the other night, as he was chasing her and making her giggle, that he wanted another sister. The biggest thing I worry about Arina, is her speech. She really has none. Since I don't know a lot about when they talk, but I do know they are behind, I never know how much to worry. She is finally get set up with the Regional Center here, so we'll get her evaluated and she what she needs. Other than that she plays and learns like any other child, and she is definitely our little princess!
Q.the zoo?
A. Ha Ha, that would be the San Diego Zoo. If you stay at Give Kids The World in Florida with Make a Wish, they give you a passport. Its good for a year to get into a bunch of fun places in all states for free. In California it has the Zoo and Wild Animal park. It also has Legoland, and Magic Mountain.
Q.Why dont you get nursing services?
Im a home health nurse for a vent kiddo and cant see why he would not qualify.A. Your right, he definitely qualifies for nursing. Here's the problem, private insurance NEVER pays for home nursing. No way are the going to use their precious millions any more than the bare minimum. Now that we are in California, he qualifies for their MediCal waiver, and he will get nursing. Its just taking them forever to get him into the Regional Center, the only place that can help us get the waiver. Even doctors offices don't really know how to apply. But we all know that private insurance just doesn't cover enough with our kids. I'm finding that my pharmacy insurance is the worst. Just yesterday I paid 70.00 for 4 days of zopenex. Insurance wants us to use the generic, which they say is albuterol. Albuterol is not just generic, its different, and a lot of kids can't have it because it raises their heartrate. With heart disease, not such a good idea! They are constantly not covering meds and I'm constantly fighting them for it. Its extremely frustrating!!
7 comments:
I'd like to add to what Maggie's mom already wrote. For Reagan (and most kids who are diagnosed with mito early on)...there is not a good prognosis. These kids have a wide variation of issues but most if not all of them are prone to rapid decompensation from something as simple as the common cold or flu virus. This causes something called a mitochondrial crisis that can result in their organs shutting down one by one and resulting in death. It's a very scary scenario to live with. Reagan has been diagnosed with deficiencies in Complex I, III, & IV. The majority of her issues are neurological (cortical visual impairment, seizures, movement disorder, quadriplegia, and dysautonomia) but her gastrointestinal system has also been greatly affected and at 2yrs old she all of a sudden went from eating 100% by mouth to getting everything 100% through a gj-tube (she can't even tolerate the food in her stomach because it makes her throw up...we have to bypass the stomach and put everything into her intestine). You never know what to expect with mito and unfortunately at this time there is no treatment or cure. It's my belief that mito is severely under diagnosed and many of the kids you see without a diagnosis (that they tell the parents it's just CP or encephalopathy), do in fact have mito. The problem is, it's not an easy thing to test for. The best way to test is to do a muscle biopsy (although many doctors still fail to order the correct testing) but DNA testing is not that successful because the majority of the DNA mutations that cause mito still have not been identified.
Thank you, this was my question so I appreciate the education. I am sorry for your loss and to Reagan's mom I thank you also for your answer. By the way congrats on baby this week :)
To help pay for his asthma meds you can go to the Healthwell Foundation. This organization helps people financially with many different diseases and disorders. There are forms you can fill out (it does not matter that you have insurance)I know someone who is able to get her meds free through this and she has insurance. They just send her a prescription card and all the copays for her asthma med are covered.
http://healthwellfoundation.org/
I hope this helps.
speech is Brooke's biggest delay too...
we just started SP and she's been saying some words, but I wonder if it's just the timing...know what I mean? I read she should have a word explosion about 2 months after walking and here it is...well, if you can call a few words an explosion...haha
I have a 17 year old daughter, Colleen, who has Down Syndrome too. She's also ADHD and OCD so we have behavioral issues, not medical ones. Speech is an issue since no one can understand her, and we are using an iPad to address that. But she is happy, has lots of friends, and is involved in community activities with her peers. I just wanted you to know you are my hero! I love your blog and your kids, you have such great pictures and stories!
Teryl
Hi I think Arina is so beautiful. She looks like she is so full of joy! I hope you apply for a make a wish trip for her too. My neighbor's child has DS too and now MAW is granting wishes for DS children. Also Reagan's mother should apply for her too.
Oh I meant to add that you can even nominate your own child now on the MAW website without a social work referral. They will then contact your child's doc for clearance. Minimum age is 2.5 yrs.
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