Playing at the doctors

Brooklynn's Dermatology Appointment

Check off another specialist on the list of follow up doctors for Brooklynn. Today we went to go visit a dermatologist due to her cafe au lait spots. She weighed in at 34 pounds, and is 37 inches tall. Her blood pressure was 88/54, so where it should be.We go in and Brooklynn put a gown on. They took her medical history. They looked at her skin. Dr. Newell took a Hood Lamp (I think that's the name of it) and took a look at her skin - it's a purple light that helps these cafe au lait spots pop out. They found 7 spots, all measuring >5mm. He said they were very light and not very noticeable. However, they did find 7, and anything greater than 6 is a cause for further investigation. He is going to present her at a radiology conference so they can take a look at her head scans - I guess sometimes there are certain bones in the face that are characteristic of what Brooklynn MAY have.What they are looking for is a thing called neurofibromatosis type 1. It's a genetic (I think) syndrome that can just pop up out of nowhere, or it can be something passed on. In order to get that diagnosis, you have to have 2 characteristics. Right now she only has one which is the 6 or more cafe au lait spots measuring >5mm. There are a few other criteria which can't be ruled out quite yet. Some other criteria is freckles in the underarms and groin, which can develop later in life. Also, neurofibromas which are tumors that are located on or just under the skin mostly in nerves, which also can develop later in life. If there is a family member who has it that would also be a criteria. There are also things that can develop on the eyes called Lisch nodules and tumors that can grow on the optic nerve.She doesn't have any of the symptoms listed above as of yet. I guess there are times when older people don't even know they have this until they have a family member who is diagnosed, and therefore that can't be 100% ruled out, but luckily we don't have any of this in our family that we know about. So now we have a referral to opthalmology where they will take a look at her eyes. This will be a big appointment - if they don't find anything than there is only a low risk that she has this disease. If they do find something, however, it is a good likelihood she has this disease, because than she would have met 2 of the criteria. Some other characteristics of this is scoliosis, macrocephaly or large head (as we all know she has this), high blood pressure, and short stature. Next week, we have the ophthalomology exam. So here's hoping they find absolutely nothing in her eyes.

Brooklynn's Hearing and Speech Appointment

Today I took Brooklynn to her hearing and speech appointment. We were referred due to her decreased words that she says (she says about 30 words, and should say 50-60 at this age). First we went in to have her hearing checked. They can only check for hearing with the good ear, since she won't wear head phones. So what that means is we sat in a room and the lady spoke through speakers on each side of her head and if Brooklynn turned to the speaker, than she passed. She did well with the speakers. THey can only check this way because she won't keep headphones on. There could still be some mild loss in one ear or the other, but we wouldn't know that until later. She passed the screens they could do at this age, which means she can at least hear. The second stage was the speech evaluation. Since she is 2, most of the evaluation was questions that they asked me as her parent. I had to either tell them all the time, sometimes, or never. Let me tell you this was really hard. We evaluated her receptive and her verbal language. Some of the questions included if you put out 5 objects, would she be able to pick out one object if you asked her - (yes if they were all objects she knew)? Can she follow 3 step commands - (sometimes)? Can she look at a book and pick out a picture if you asked her - (a few pictures)? The verbal one was a little tougher. They asked if she knew the difference between "her", him", etc (no); does she use inflection (yes); can she say her name (sometimes); can she name small body parts (not really). Well all in all, what we found out is that she as some mild receptive and expressive language disorder. She was on point with a 19 month old with her receptive and on point with a 20 month old with her expressive language development. They recommended we enroll her in therapy. There is a wait list I guess for 4 months to even get into the program. And than after she gets enrolled, they will only be able to do therapy for 6 months. She stated that most kids will need therapy for at least 12 months, but after she turns 3 than hopefully we can enroll her in a school therapy program. The therapy sessions will be once a week, 45 minute sessions. I have to find out if this is even covered by insurance - since it's due to delay and not other medical reason, they might not cover it. At that point we would have to evaluate other options. The speech pathologist also stated some of her concerns were that she sometimes says words great (like baby) and than sometimes cuts out constanants (such as making baby to bay, or not saying the first or last letter in her words). Also, she sticks her tongue out a lot, and breaths a lot through her mouth, which could indicate some low oral tone, which could produce speech problems later on, so we would work on that in the sessions I guess. I told her she will probably need her tonsils removed at some point because they are always swollen, and that's a lot to do with her mouth breathing. So all in all, not terrible, but again stuff we will need to work on when it comes to making sure Brooklynn hits her developmental milestones. I am glad we will be getting her into therapy sooner rather than later if she is going to be having problem with speech, I would rather catch it before she gets too far behind. We have a long way to go to hit 300 words by 2 1/2....