Home » Forum » Parents of Children with Mito » The Journey to Diagnosis

A little about us and a question

Posted: August 25th 2009

saleav

 Print

My name is Sean and I am a stay at home dad of four wonderful boys (12,10,3, & 2).  Our youngest one has been low tone since birth.  At 6 months his parent educator noticed some delays and had him checked out.  He has been getting PT, OT, DT, Speech, and  Aqua for most of that time.  In the past month we have switched pediatricians and she thought that Alex might be ASD and ordered blood (heavy metal among other things) and fecal tests done and asked that we see a different neurologist.  We have done all of the above.  Last week we met our new neurologist and after reviewing Alex's tests and examining him he thought that he had Mito.  One of the determining factors that he noted is that he was making progress (currently he does not walk or talk, but does crawl and cruise with help) until he got sick and needed to be hospitalized in January (this was for dehydration).  It took him 4 months to get back to where he was before the illness.  My question is this, what are the disadvantages/advantages of a diagnosis?  The way that I see it is that the disadvantages are: Biopsy is painful, Travel to a different city disrupts whole family (neuro suggested Cleveland or Atlanta and we are just outside of St. Louis), Expensive test, chance of test being inconclusive.  The advantages are that MAYBE we find out what he might have.  Like I said before I am extremely new to this and I am just trying to weigh out our options and I though I would post something here to see what other opinions/experiences everyone else has.

In my opinion, and this is

Submitted by janice on Tue, 08/25/2009 - 7:56pm.

In my opinion, and this is just my opinion, I think it is important to know what dificiencies are going on, so that you can base treatment on those results. Since i have had a diagnosis, i have relieved many symptoms, and keep finding more. *just to note,there are a few mito moms that use the "sick formula" for their children,( as well as i do) when they get ill, and has brought them back quickly. It is on this site. All the best.
Anthonys mom's picture

Welcome Sean, I have to tell

Submitted by Anthonys mom on Wed, 08/26/2009 - 9:00am.

Welcome Sean, I have to tell you I have a son who will be 3 this weekend. I to thought biopsy would hurt him! To my suprise for him. He was running around the next day. I couldn't believe it. Really I had canceled all therapies for him that week thinking it was just going to be to much. I could have not been so wrong. He was 18 months when he had it done. We did not travel our doctors did the fresh testing here but also sent a frozen biopsy to Atlanta. I can only tell you our story. Finding out at first was vary hard. Not because he had it but because I felt there was not much I could do. In retro spect I am glad we found out. It has helped us learn things to look for and we have learned that doing certain things usually help him. He is doing well. He walks talks, plays, and was just tested for preschool and is developmentally age appropriate. It has really helped knowing becasue he does fatigue alot sometimes sleeping 20 hours a day. We know that things are modified for him. He will be starting school this Tuesday and having an IEP is helpfull. Starting the cocktail has made a big difference for him. We still have strugles as he is g-tube feed and dehydrates very easily. But for the most part he is doing Great! I believe finding out did let us help him better! Good luck with your decision. Remember what ever it is it will be the right one for you and your Family!

lorimar's picture

Hi Sean, I can tell you how

Submitted by lorimar on Thu, 08/27/2009 - 2:04pm.

Hi Sean, I can tell you how I feel about finding an answer.. I have terrible pain, but before I found out I wouldn't let them help me for fear of hiding the the truth,but all the other symptoms weren't adding up, you start to feel crazy. Doctors don't believe you. Yes biopsy's are painful,but I feel a strength in knowing the truth. I know what I'm fighting(it has a name)I know what I'm fighting, and I am fighting with everything I have. I can't wait until we all see a cure. I've been to the Cleveland clinic. Dr. Cohen is an excellent doctor. I wish you lots of luck, you are in my prayers....God Bless....Lori:)

Hi Sean, I went through the

Submitted by noor117 on Mon, 09/07/2009 - 11:53pm.

Hi Sean, I went through the biopsy in June for myself hoping to get answers for both my daughter and I. I have had many surgeries in my 29 years of life and that was by far the easiest and least painful. We still hesitate to have the biopsy on my 2 year old daughter. I am hoping my biopsy will provide results for both, but if not, I feel we need to pursue accurate diagnosis for her. Doctors take u so much more seriously when u have a true diagnosis in hand. For my child to have surgery is a tough decision as it is for every parent. We live in Atlanta, and we saw Dr. S.
__________________

My daughter is 28 months old, 20 pounds, 33 inches tall, and has a head circumference of 17.5 inches. She is suspected of mito, and has EGID. I am suspected of mito. and am awaiting biopsy results.