Biotinidase Deficiency
Caleb - Possible Biotinidase Deficiency
Caleb's biotin level was low on his initial blood test. The concern is that he might have Biotinidase Deficiency.
The screening process at birth for biotin levels is new so a benchmark level has not yet been determined. Since Caleb's level was on the low side, more in-depth testing is being done to determine whether or not he in fact has Biotinidase Deficiency.
In very basic terms, Biotinidase Deficiency, is a lack of production of biotin. There is more to it than that so if you are interested in a detailed explanation, check out... http://www.emedicine.com/PED/topic239.htm
If it is determined that he does have Biotinidase Deficiency, the treatment is to give him biotin supplements for life. The condition is genetic so if the test comes back positive, we'll have to test Sarah as well.
We are very thankful that both our children are healthy and happy. We are also thankful that this condition is very minor considering what many other children have to deal with. We are careful to notice the many blessings we do have. Albeit minor, we are praying that the test will come back negative. Obviously we would love to have no problems at all; so, we would like to ask that you remember Caleb and Sarah in your prayers.
Thanks !!!
Caleb's Results Are In
The results are in. Personally I am a little confused on what they mean...
It has been determined that Caleb has Partial Biotinidase Deficiency. I'm still trying to wrap my head around what exactly that means. My understanding is that he is producing some biotin but "possibly" not enough. They said that if he was left untreated he may never have a problem but they want to treat him in case.
We have to make another trip in to CHEO so we can meet with the Doctor. At that time we will likely learn a lot more such as whether or not he will need to continue treatments for his entire life or just for a while. We were initially led to believe that if he has the deficiency, he'll have it for life; thus, meaning treatments for life.
While at our next visit to CHEO, both Sarah and Daddy will have to be tested as well. Mommy was tested at the same time as Caleb and her results came back fine.
For those that are interested, Craig sent us a couple additional links of sites with a description of Biotinidase Deficiency in layman's terms:
http://www.savebabies.org/diseasedescriptions/biotinidase.php
http://ghr.nlm.nih.gov/condition=biotinidasedeficiency
I'll continue to keep you updated as we learn more. In the meantime, your continued prayers to the Great Physician are appreciated.
Thanks,
Glenn
Caleb - A first for CHEO
Today was Caleb's first visit with our regular Doctor (which is a lady that attends our church). The visit was unrelated to the tests that CHEO is doing; however, the Doctor said that CHEO had called her to give her some details...
She was given the impression that Caleb was the first baby that they have ever diagnosed with Biotinidase Deficiency. We do know that they only started screening for the condition in February. Before February, babies with the condition wouldn't be diagnosed and treated until symptoms were found later on. When we meet with the Doctor @ CHEO next Monday, we'll find out if Caleb is truly the first for CHEO or just the first for the person that talked with our Doctor... In any case, we are treading fairly new ground as far as young babies are concerned.
Our Doctor had never heard of the condition before and only had a limited amount of information to give us. We'll get more details @ CHEO next Monday. From our talks with both the Genetics Counsellor at CHEO and with our Doctor we have been given the impression that when we meet with the Doctor @ CHEO, we'll be told that they want to do regular blood tests on Caleb and have us work closely with a Dietician.
Caleb and Allie have already been tested and it was determined that Caleb has Partial Biotinidase Deficiency and that Allie does not have it at all. Sarah and I are both to be tested on our next visit. Allie's results confuse us because the information we read at http://www.savebabies.org/diseasedescriptions/biotinidase.php and http://ghr.nlm.nih.gov/condition=biotinidasedeficiency and http://www.genetests.org/query?dz=biotin and other sites all say that Biotinidase deficiency is inherited when both parents are carriers. We'll ask the Doctor @ CHEO to clarify it all for us.
If you're confused, don't feel bad because you're in the same boat as me. Personally I think that Biotinidase Deficiency just means that Caleb is the cutest little guy in the world. :o)
Thank you all for your continued prayers. Many of you have sent us encouragement emails; we are so grateful for the support we have. Thank you all.
Glenn
A better explanation of Biotinidase Deficiency...
Ok, I'll try and do my best to explain it. By the time I'm done, I'm sure you'll find it all clear as mud. Here I go...
Some foods that we eat contain a vitamin called "biotin". Our bodies actually need quite a bit of biotin; however, generally speaking, we only ever consume a very tiny amount through the food we eat. That is ok because in our bodies we have an enzyme called "biotinidase". The biotinidase enzyme's job is to recycle the biotin in our bodies after the body has already used it. By recycling the used biotin, we do not have to introduce very much new biotin through our food.
"Biotinidase Deficiency" simply means a lack of the biotinidase enzyme. Without the enzyme, the recycling process is not happening; which it turn means there is a lack of biotin. Treatment for biotinidase deficiency is to simply take biotin as a vitamin supplement. Basically, if the enzyme is on strike, we do the job ourselves.
Now let me confuse you a little more... Each one of us has a gene that contains the "recipe" that the enzyme uses to recreate the needed biotin. As is with every gene, we have 2 copies of the gene. One copy is obtained from each of our parents. A carrier of the deficiency is someone that has at least one messed up copy of the gene. Generally speaking, carriers have no problems because they still have one good copy.
When 2 carriers have a child, there is a possibility that they will both pass on the messed up copy of their gene. As a result, the child will have a low level of the enzyme. The level is determined by the degree of screwedupness in the genes the child received.
A while back, both Caleb and Allie were tested for the level of enzymes in their body. Sarah and I were tested yesterday; however, we do not have the results yet. Based strictly on the enzyme level in Caleb and the medical fields knowledge of Biotinidase Deficiency, it is "assumed" that both Allie and I are carriers and that Caleb was simply unlucky enough to have gotten bad copies of our genes. Using this same assumption, it is possible that the roll of the dice might show that Sarah is deficient as well. Without trying to explain the reasons why, a child born to 2 carriers has a 25% change of being perfect, a 50% chance of being a carrier and a 25% chance of being deficient.
Prior to February 28 of this year (2007), Ontario did not screen newborn babies for their biotinidase level. Only after symptoms started to show, would they check the level. Since some symptoms such as hearing and vision loss are irreversible, it was determined that it would be best to start screening before the symptoms show.
Since Caleb only has Partial Biotinidase Deficiency or only partially messed up genes, nobody knows for sure if he would have any symptoms if he was left untreated. Since there is no problems with taking too much biotin, it has been determined the best course of action is to give him biotin supplements so we are certain he will have no symptoms.
I hope I haven't confused you too much.
Biotinidase Test Results for Sarah and Glenn
In previous postings I mentioned that Caleb has Partial Biotinidase Deficiency. Many of you have only recently been added to our mailing list so, if you missed the explanation of what that is, take a look at the last posting. I recommend you read that posting before continuing with this one; otherwise, you may be a little confused.
The results for Sarah and Glenn are now in. Basically it's in the roll of the dice...
As mentioned in the previous post, if parents are carriers of the deficiency, there is only a possibility that their child will be deficient.
Whether or not you have the deficiency is only the first roll of the dice. If it is determined that you do have the deficiency, the dice is rolled again to determine what, if any, symptoms may come as a result.
If the initial roll determines that someone has the full deficiency, then the second roll of the dice is certain to bring rather severe symptoms. If the initial roll determines that there is only a partial deficiency, then the second roll may show a variety of symptoms ranging from none at all to some of the more severe symptoms such as, hearing loss, vision loss, seizures or death.
It was previously decided that Allie is a carrier of the deficiency and Caleb has a partial deficiency. The recent results show that in addition to Caleb, both Sarah and I are both partially deficient.
The only symptom I have ever experienced is hair loss; however, that may or not be related. I actually haven't "lost" any hair... it just migrated south to my chest :o)
Sarah had a rather severe rash as a baby that they now figure was as a result of the deficiency.
We now have a choice, continue to roll the dice and see if any symptoms come up or treat the kids with biotin supplements so no symptoms come at all. Since some symptoms such as vision/hearing loss can not be reversed, we have decided to start giving them the supplements. As for me, I appear to have been lucky so far so the likelihood of it affecting me now is quite slim.
Needed Biotin Not Available In Canada
In my last posting I told you the results of the tests and that we will soon begin giving biotin supplements to both Caleb and Sarah.
It has been awhile and we had not received the biotin or any more information so I decided to contact CHEO and what I found out was that Biotin is not approved by Health Canada...
The email I received from CHEO said this...
"We are in the works to get the biotin for Caleb and Sarah; however, as biotin is not approved by health Canada, we have to apply to bring it into the country. That application is submitted now. I know that this is a lot of bureaucracy to go through to get a vitamin. I will be in touch soon after I hear back from Health Canada."
Hmmmmm.... I guess now I have a few more questions.
On another note, while browsing through the CHEO website, I came across this link... http://www.health.gov.on.ca/english/providers/program/child/screening/pdf/fs_biot.pdf That link will give you yet another explanation of Biotinidase Deficiency. It is produced by the Ontario Government as does an better job of explaining it than I have.
The Biotin Has Arrived
I'm sorry I don't have a lot of news but it has been a while since I sent out an update so I wanted to touch base with everyone again. In the last update I told you that there would be a delay in getting the biotin into Canada, well, it is here now...
CHEO has the biotin and we can pick it up. Both Caleb and Sarah are doing well. The next appointment is September 17th. I guess I won't have much news until then.
I know I don't have much to say this time but I do want to thank you for your continued prayers.
Thanks!!!
